Cancer Genes Volume 1 E-Book

• Herausgeber: Bentham Science Publishers
• Kategorie: Fachliteratur
• Serie: Cancer Genes
• Sprache: Englisch

Seitenzahl: 832

Veröffentlichungsjahr: 2009

Beschreibung

Cancer Genes is a comprehensivelist of the most critical genes known to contribute to cancer imitation andprogression. The book delves into their location on each chromosome, providingvaluable insights into the mechanisms of cancer gene dysregulation and genetic mutationswhich provide cancer cells with an advantage during each stage oftumorigenesis. The reference will familiarize readers with the location of cancergenes and equip them with the necessary information to identify relevant geneexpression targets for research aimed at preventing the disease. The book is divided into two volumes focusing oncancer-causing genes found in chromosome pairs 1-12 (volume 1), and chromosomes13-23 (volume 2). A key features of the book is a detailed reference list for advancedreaders. The compilation is therefore a quick and handy reference on cancercausing genes for researchers, medical professionals, and anyone interested inunderstanding the genetic basis of cancer.

Leseprobe

Table of Contents

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FOREWORD

PREFACE

List of Contributors

Chromosome 1

Abstract

1. INTRODUCTION

1.1. MUC1: Mucin-1 Chromosome 1; 1q22

1.2. NTRK1: Neurotrophic receptor Tyrosine Kinase-1 Location: Chromosome 1; 1q23.3

1.3. PBX1: Pre-B-Cell Leukemia Transcription Factor-1 Chromosome 1; 1q23.3

1.4. ABL2: Tyrosine Protein Kinase ABL2 Chromosome 1; 1q25.2

1.5. Notch2: Neurogenic Locus Notch Homolog Protein-2 Chromosome 1; 1p12

1.6. NRAS: NRAS Proto-Oncogene Chromosome 1; 1p13.2

1.7. JUN: Jun Proto-Oncogene Chromosome 1; 1p32.1

1.8. TAL1: T-Cell Acute Lymphocytic Leukemia Protein-1 Chromosome 1; 1p33

1.9. JAK1: Jenus Kinase-1 Chromosome 1; 1p31.3

1.10. SFPQ: Splicing Factor, Proline and Glutamine-Rich Chromosome 1; 1p34.3

1.11. ARNT: Aryl Hydrocarbon Translocator Chromosome 1; 1q21.3

1.12. REG4: Regenerating Islet-Derived Protein-4 Chromosome 1; 1p12

1.13. CD58: Cluster of Differentiation 58 Chromosome 1; 1p13.1

1.14. RAP1A: Ras-Related Protein Rap-1A Chromosome 1; 1p13.2

1.15. GSTM3: Glutathione S-Transferase M3C Chromosome 1; 1p13.3

1.16. YBX1: Y-Box Binding Protein Chromosome 1; 1p34.2

1.17. STMN1: Stahmin-1 Chromosome 1; 1p36.11

1.18. WNT4: WNT Family Member 4 Chromosome 1; 1p36.12

1.19. E2F2: Transcription Factor E2F2 Chromosome 1; 1p36.12

1.20. PARK7: Parkinson Disease Protein-7 Chromosome 1; 1p36.23

1.21. ARID1A: AT-Rich Interaction Domain-1A Chromosome 1; 1p36.11

1.22. ENO1: Enolase-1 Chromosome 1; 1p36.23

1.23. SMYD3: SET and MYND Domain-Containing Protein-3 Chromosome 1; 1q44

1.24. TP53BP2: Tumor Suppressor p53 Binding Protein-2 Chromosome 1; 1q41

1.25. PDPN: Podoplanin Chromosome 1; 1p36.21

1.26. SHC1: SHC Adaptor Protein-1 Chromosome 1; 1q21.3

1.27. MDM4: Mouse Double Minute-4 Chromosome 1; 1q32.1

1.28. ADAR: Adenosine Deaminases Acting on RNA Chromosome 1; 1q21.3

1.29. HDGF: Hepatoma-Derived Growth Factor Chromosome 1; 1q23.1

1.30. MUTYH: mutY DNA Glycosylase Chromosome 1; 1p34.1

1.31. SDHB: Succinate Dehydrogenase Iron-Sulfur Subunit B Chromosome 1; 1p36.13

1.32. EXO1: Exonuclease-1 Chromosome 1; 1q43

1.33. FH: Fumarate Hydratase Chromosome 1; 1q43

1.34. RHOC: RAS Homolog Gene Family Member C Chromosome 1; 1p13.2

1.35. TGFBR3: Transforming Growth Factor-Beta Receptor-3 Chromosome 1; 1p22.1

1.36. CCN1: CCN Family Member-1 Chromosome 1; 1p22.3

1.37. IL23R: Interleukin 23 Receptor Chromosome 1; 1p31.3

1.38. ROR1: Receptor Tyrosine kinase-Like Orphan Receptor-1 Chromosome 1; 1p31.3

1.39. PTPRF: Protein Tyrosine Phosphatase Receptor Type-F Chromosome 1; 1p34.2

1.40. PUM1: Pumilio-1 Chromosome 1; 1q35.2

CONCLUSION

REFERENCES

Chromosome 2

Abstract

1.1. APOB - APOLIPOPROTEIN B CHROMOSOME 2; 2p24.1

1.2. BOLL - Boule Homolog, RNA Binding Protein Chromosome 2; 2q33.1

1.3. BUB1 - BUB1 Mitotic Checkpoint Serine/Threonine Kinase Chromosome 2; 2q13

1.4. CCL20 - C-C Motif Chemokine Ligand 20 Chromosome 2; 2q36.3

1.5. CFLAR - CASP8 and FADD-Like Apoptosis Regulator Chromosome 2; 2q33.1

1.6. CREB1 - cAMP Responsive Element Binding Protein 1 Chromosome 2; 2q33.3

1.7. CTLA4 - Cytotoxic T-Lymphocyte Associated Protein 4 Chromosome 2; 2q33.2

1.8. CXCR4 - C-X-C Motif Chemokine Receptor 4 Chromosome 2; 2q22.1

1.9. CYP1B1 - Cytochrome P450 Family 1 Subfamily B Member 1 Chromosome 2; 2p22.2

1.10. DDX1 – DEAD-Box Helicase 1 Chromosome 2; 2p24.3

1.11. DNMT3A - DNA Methyl Transfer Ase 3 Alpha Chromosome 2; 2p23.3

1.12. EFEMP1 - EGF Containing Fibulin Extracellular Matrix Protein 1 Chromosome 2; 2p16.1

1.13. EpCAM - Epithelial Cell Adhesion Molecule Chromosome 2; 2p21

1.14. ERBB4 - Erb-b2 Receptor Tyrosine Kinase 4 Chromosome 2; 2q34

1.15. FHL2 - Four and a Half LIM Domains 2 Chromosome 2; 2q12.2

1.16. FOSL2 - FOS Like 2, AP-1 Transcription Factor Subunit Chromosome 2; 2p23.2

1.17. FRZB - Frizzled Related Protein Chromosome 2; 2q32.1

1.18. FZD7 - Frizzled Class Receptor 7 Chromosome 2; 2q33.1

1.19. GREB1 - Growth Regulating Estrogen Receptor Binding 1 Chromosome 2; 2p25.1

1.20. GLI2 - GLI Family Zinc Finger 2 Chromosome 2; 2q14.2

1.21. HDAC4 - Histone Deacetylase 4 Chromosome 2; 2q37.3

1.22. HOXD10 - Homeobox D10 Chromosome 2; 2q31.1

1.23. ID2 - Inhibitor of DNA Binding 2 Chromosome 2; 2p25.1

1.24. IDH1 - Isocitrate Dehydrogenase (NADP (+)) 1 Chromosome 2; 2q34

1.25. IL1B - Interleukin 1 Beta Chromosome 2; 2q14.1

1.26. ING5 - Inhibitor of Growth Family Member 5 Chromosome 2; 2q37.3

1.27. IRS1- Insulin Receptor Substrate 1 Chromosome 2; 2q36.3

1.28. MEIS1 - Meis Homeobox 1 Chromosome 2; 2p14

1.29. MYCN - MYCN Proto-Oncogene, bHLH Transcription Factor Chromosome 2; 2p24.3

1.30. NCOA1 - Nuclear Receptor Coactivator 1 Chromosome 2; 2p23.3

1.31. NR4A2 - Nuclear Receptor Subfamily 4 Group A Member 2 Chromosome 2; 2q24.1

1.32. ODC1 - Ornithine Decarboxylase 1 Chromosome 2; 2p25.1

1.33. PAX3 - Paired Box 3 Chromosome 2; 2q36.1

1.34. PAX8 - Paired Box 8 Chromosome 2; 2q14.1

1.35. RALB - RAS Like Proto-Oncogene B Chromosome 2; 2q14.2

1.36. RANBP2 - RAN Binding Protein 2 Chromosome 2; 2q13

1.37. REG1A - Regenerating Family Member 1 Alpha Chromosome 2; 2p12

1.38. REL - REL Proto-Oncogene, NF-kB Subunit Chromosome 2; 2p16.1

1.39. REV1 - REV1 DNA Directed Polymerase Chromosome 2; 2q11.2

1.40. RHOB - Ras Homolog Family Member B Chromosome 2; 2p24.1

1.41. ROCK2 – Rho-Associated Coiled-Coil Containing Protein Kinase 2 Chromosome 2; 2p25.1

1.42. RRM2 - Ribonucleotide Reductase Regulatory Subunit M2 Chromosome 2; 2p25.1

1.43. SDC1 – Syndecan 1 Chromosome 2; 2p24.1

1.44. SOX11 – SRY-Box Transcription Factor 11 Chromosome 2; 2p25.2

1.45. STAT1 - Signal Transducer and Activator of Transcription 1 Chromosome 2; 2q32.2

1.46. SUMO1 - Small Ubiquitin-Like Modifier 1 Chromosome 2; 2q33.1

1.47. TCF7L1 - Transcription Factor 7 Like 1 Chromosome 2; 2p11.2

1.48. TIA1 - TIA1 Cytotoxic Granule Associated RNA Binding Protein Chromosome 2; 2p13.3

1.49. TRPM8 - Transient Receptor Potential Cation Channel Subfamily M, Member 8 Chromosome 2; 2q37.1

1.50. TWIST2 - Twist Family bHLH Transcription Factor 2 Chromosome 2; 2q37.3

CONCLUSION

REFERENCES

Chromosome 3

Abstract

1. INTRODUCTION

1.1. BCL6: B-Cell Lymphoma 6 Chromosome 3; 3q27.3

1.2. RAF1: Rapidly Accelerated Fibrosarcoma, Chromosome 3; 3p25.2

1.3. TFG: Tropomyosin-Receptor Kinase Fused Gene Chromosome 3; 3q12.2

1.4. SRGAP3: SLIT-ROBO Rho GTPase-Activating Protein 3 Chromosome 3; 3p25.3

1.5. GATA2: GATA Binding Protein 2 Chromosome 3; 3q21.3

1.6. RPN1: Ribophorin I Chromosome 3; 3q21.3

1.7. CNBP: Cellular Nucleic Acid-Binding Protein Chromosome 3; 3q21.3

1.8. FHIT: Fragile Histidine Triad Diadenosine Triphosphatase Chromosome 3; 3p14.2

1.9. PPARG: Peroxisome Proliferator-Activated Receptor Gamma Chromosome 3; 3p25.2

1.10. MECOM: MDS1 and EVI1 Complex Locus Chromosome 3; 3q26.2

1.11. MITF – Melanocyte Inducing Transcription Factor Chromosome 3; 3p13

1.12. FOXP1: Forkhead Box Protein P1 Chromosome 3; 3p13

1.13. PBRM1: Polybromo-1 Chromosome 3; 3p21.1

1.14. BAP1: BRCA1 Associated Protein 1 Chromosome 3; 3p21.1

1.15. NCKIPSD: NCK Interacting Protein with SH3 Domain Chromosome 3; 3p21.31

1.16. SETD2: Set Domain Containing 2 Chromosome 3; 3p21.31

1.17. CTNNB1 Gene: Catenin Beta 1 Chromosome 3; 3p22.1

1.18. MYD88: Myeloid Differentiation Primary Response 88 Chromosome 3; 3p22.2

1.19. CBLB: Cbl Proto-Oncogene B Chromosome 3; 3q13.11

1.20. FOXL2: Forkhead Box Protein L2 Chromosome 3; 3q22.3

1.21. WWTR1: WW Domain Containing Transcription Regulator 1 Chromosome 3; 3q25.1

1.22. GMPS: Guanine Monophosphate Synthase Chromosome 3; 3q25.31

1.23. MLF1: Myeloid Leukemia Factor 1 Chromosome 3; 3q25.32

1.24. PIK3CA: Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Chromosome 3; 3q26.32

1.25. SOX2: Sex-Determining Region Y [SRY]-Box Rranscription Factor 2 Chromosome 3; 3q26.33

1.26. ETV5: ETS Variant Transcription Factor 5 Chromosome 3; 3q27.2

1.27. EIF4A2: Eukaryotic Translation Initiation Factor 4A, Isoform 2 Chromosome 3; 3q27.3

1.28. LPP: Lipoma Preferred Partner Chromosome 3; 3q27.3-q28

1.29. RASSF1: Ras Association Domain-Containing Protein 1 Chromosome 3; 3p21.31

1.30. MLH1: MutL Homolog 1 Chromosome 3; 3p22.2

1.31. VHL: Von Hippel-Lindau Chromosome 3; 3p25.3

1.32. XPC: Xeroderma Pigmentosum Complementation Group C [XP Complex Subunit C] Chromosome 3; 3p25.1

1.33. FANCD2: Fanconi Anemia Complementation Group D2 Protein Chromosome 3; 3p25.3

1.34. POU1F1: POU Class 1 Homeobox 1 Chromosome 3; 3p11.2

1.35. EPHA3: EPH Receptor A3 Chromosome 3; 3p11.1

1.36. ROBO1: Roundabout Guidance Receptor 1 Chromosome 3; 3p12.3

1.37. LRIG1: Leucine-Rich Repeats and Immunoglobulin-Like Domains 1 Chromosome 3; 3p14.1

1.38. ADAMTS9: ADAM Metallopeptidase with Thrombospondin Type 1 Motif 9 Chromosome 3; 3p14.1

1.39. WNT5A: Wnt Family Member 5A. Chromosome 3; 3p14.3

1.40. CCR1: C-C Motif Chemokine Receptor 1 Chromosome 3; 3p21.31

CONCLUSION

REFERENCES

Chromosome 4

Abstract

1.1. AAA2 - AORTIC ANEURYSM, FAMILIAL ABDOMINAL 2 CHROMOSOME 4; 4q31

1.2. ABCG2- ATp Binding Cassette Subfamily G Member Domain 29 Chromosome 4; 4q34.1

1.3. AFF1- AF4/FMR2 Family Member 1 Chromosome 4; 4q21.3-q22.1

1.4. AFP-AlpHa-Fetoprotein Chromosome 4; 4q13.3

1.5. AREG- Amphiregulin Chromosome 4; 4q13.3

1.6. CCNG2- Cyclin G2 Chromosome 4; 4q21.1

1.7. CD38 Chromosome 4: 4p15.32

1.8. CLOCK- Clock Circadian Regulator Chromosome 4; 4q12

1.9. CXLC1- C-X-C Motif Chemokine Ligand 1 Chromosome 4; 4q13.3

1.10. CXCL 2- C-X-C Motif Chemokine Ligand 2 Chromosome 4; 4q13.3

1.11. CXCL3- C-X-C Motif Chemokine Ligand 3 Chromosome 4; 4q13.3

1.12. CXCL5- C-X-C Motif Chemokine Ligand 5 Chromosome 4; 4q13.3

1.13. CXCL9- C-X-C Motif Chemokine Ligand 9 Chromosome 4; 4q21.1

1.14. CXCL11- C-X-C Motif Chemokine Ligand 11 Chromosome 4: 4q21.1

1.15. CXCL13- C-X-C Motif Chemokine Ligand 13 Chromosome 4; 4q21.1

1.16. CtBP1- C-Terminal Binding Protein 1 Chromosome 4; 4p16.3

1.17. DUX4L1- Double Homeobox 4 like 1 Chromosome 4; 4q35.2

1.18. EphA5- Erythropoietin Producing Hepatocellular Receptor A5 Chromosome 4; 4q13.1- q13.2

1.19. EREG- Epiregulin Chromosome 4; 4q13.3

1.20. FBXW7- F-box WD Repeat Domain Containing 7 Chromosome 4; 4q31.3

1.21. GnRHR- Gonadotropin-Releasing Hormone Receptor Chromosome 4; 4q13.2

1.22. IGFBP7- Insulin-Like Growth Factor Binding Protein 7 Chromosome 4; 4q12

1.23. IL2- Interleukin 2 Chromosome 4; 4q27

1.24. KIT- KIT Proto-Oncogene Receptor Tyrosine Kinase Chromosome 4; 4q12

1.25. MUC7- Mucin 7 Chromosome 4; 4q13.3

1.26. PCDH7- Protocadherin 7 Chromosome 4; 4p15.1

1.27. PDGFRA- Platelet-Derived Growth Factor Receptor Alpha Chromosome 4;4q12

1.28. PPARGC1A- Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Alpha Chromosome 4; 4p15.2

1.29. RASSF6- Ras Association Domain Family Member 6 Chromosome 4; 4q13.3

1.30. RBPJ- Recombinant Signal Binding Protein for Immunoglobin Kappa J Region Chromosome 4; 4p15.2

1.31. RFC1- Replication Factor C subunit 1 Chromosome 4; 4p14

1.32. S100P- S100 CalciumBinding Protein P Chromosome 4; 4p16.1

1.33. SLC34A2- Solute Carrier Family 34 Member 2 Chromosome 4; 4p15.2

1.34. SLIT2- Slit Guidance Ligand 2 Chromosome 4; 4p15.31

1.35. SPP1 Secreted Phosphoprotein 1 Chromosome: 4; 4q22.1

1.36. SPRY1 Sprouty RTK Signalling Antagonist 1 Chromosome: 4; 4q28.1

1.37. TACC3-Transforming Acidic Coiled Coil Protein 3 Chromosome: 4;4p16.3

1.38. TLR1- Toll-Like Receptor 1 Chromosome 4; 4p14

1.39. TET2-TET Methylcytosine Dioxygenase2 Chromosome 4; 4q24

1.40. UCHL1- Ubiquitin C- Terminal Hydrolase L1 Chromosome 4; 4p13

CONCLUSION

REFERENCES

Chromosome 5

Abstract

1.1. AACSP1: ACETOACETYL-CoA SYNTHETASE PSUEDOGENE 1. CHROMOSOME 5; 5q35.3

1.2. ABLIM3: Actin Binding LIM Protein Family Member 3. Chromosome 5; 5q32

1.3. ACOT12: Acyl-CoA Thioesterase 12. Chromosome 5; 5q14.1

1.4. ACSL6: Acyl-CoA Synthetase Long-Chain Family 6. Chromosome 5; 5q31.1

1.5. ACTBL2: Actin Beta Like 2 [Homo Aapiens (Human)]. Chromosome 5; 5q11.2

1.6. ACTBP2: ACTB Pseudogene 2 [Homo Sapiens (Human)]. Chromosome 5; 5q14.1

1.7. ADAM19: ADAM Metallopeptidase Domain 19. Chromosome 5; 5q33.3

1.8. ADAMTS12: ADAM Metallopeptidase with Thrombospondin Type 1 Motif 1. Chromosome 5; 5p13.3-p13.2

1.9. ADAMTS16: ADAM Metallopeptidase with Thrombospondin Type 1 Motif 16. Chromosome 5; 5p15.32

1.10. ADRA1B: Adreno Receptor Alpha 1B Motif 16. Chromosome 5; 5q33.3

1.11. ADRB2: Adrenoceptor Beta 2. Chromosome 5; 5q33.3

1.12. AFAP1L1: Actin Filament-Associated Protein 1. Chromosome 5; 5q32

1.13. AFF4: AF4/FMR2 Family Member 4. Chromosome 5; 5q31.1

1.14. AGGF1: Angiogenic Factor with G-Patch And Fha Domains 1. Chromosome 5; 5q13.3

1.15. AHHR: Aryl-Hydrocarbon Receptor Repressor. Chromosome 5; 5p15.33

1.16. AMACR: Alpha-Methylacyl-Coa Racemase. Chromosome 5; 5p13.2

1.17. ANKHD1: Ankyrin Repeat and Kh Domain Containing 1. Chromosome 5; 5q31.3

1.18. ANXA2R: Annexin A2 Receptor. Chromosome 5; 5p12

1.19. APC: APC Regulator of Wnt Signaling Pathway/adenomatous Polyposis Coli. Chromosome 5; 5q22.2

1.20. ARAP3: ArfGAP with RhoGAP Domain, Ankyrin Repeat, and Pf Domains 3. Chromosome 5; 5q31.3

1.21. ARHGEF28: Rho Guanine Nucleotide Exchange Factor 28. Chromosome 5; 5q13.2

1.22. ARHGAP26: Rho GTPase Activating Protein 26. Chromosome 5; 5q31.3

1.23. ARL10: ADP Ribosylation Factor Like GTPase 10. Chromosome 5; 5q35.2

1.24. ARL14EPL: ADP Ribosylation Factor Like GTPase 14 Effector Protein. Chromosome 5; 5q23.1

1.25. ARL15: ADP Ribosylation Factor Like GTPase. Chromosome 5; 5q11.2

1.26. ARRDC3: Arrestin Domain Containing 3. Chromosome 5; 5q14.3

1.27. ATG10: Autophagy Related 10. Chromosome 5; 5q14.1-q14.2

1.28. ATG12: Autophagy Related 12. Chromosome 5; 5q22.3

1.29. ATOX1: Antioxidant 1 Copper Chaperone. Chromosome 5; 5q33.1

1.30. CAST: Calpastatin. Chromosome 5; 5q15

1.31. CCNB1: Cyclin B1. Chromosome 5; 5q13.2

1.32. CCNG1: Cyclin G1. Chromosome 5; 5q34

1.33. CD74: CD74 Molecule. Chromosome 5; 5q33.1

1.34. CDC25C: Cell Division Cycle 25. Chromosome 5; 5q31.2

1.35. CDK7: Cyclin-Dependent Kinase 7. Chromosome 5; 5q13.2

1.36. CDX1: Caudal Type Homeobox 1. Chromosome 5; 5q32

1.37. CLPTM1L: Cleft Lip and Palate Transmembrane Protein 1-Like Protein. Chromosome 5 ; 5p15.33

1.38. CSF1R: Colony Stimulating Factor 1 Receptor. Chromosome 5; 5q32

1.39. CTNNA1: Catenin Alpha 1. Chromosome 5; 5q31.2

1.40. CXCL14: C-X-C Motif Chemokine Ligand 14. Chromosome 5; 5q31.1

1.41. DAB2: DAB Adaptor Protein 2. Chromosome 5; 5p13.1

1.42. DHFR: Dihydrofolate Reductase. Chromosome 5; 5q14.1

1.43. DROSHA: Drosha Ribonuclease Iii. Chromosome 5; 5p13.3

1.44. DUSP1: Dual Specificity Phosphatase 1. Chromosome 5; 5q35.1

1.45. EBF1: EBF Transcription Factor 1. Chromosome 5; 5q33.3

1.46. EGR1: Early Growth Response 1. Chromosome 5; 5q31.2

1.47. FAT2: FAT Atypical Cadherin 2. Chromosome 5; 5q33.1

1.48. FER: FER Tyrosine Kinase. Chromosome 5 ; 5q21.3

1.49. FGF1: Fibroblast Growth Factor 1. Chromosome 5; 5q31

1.50. FGF10: Fibroblast Growth Factor 10. Chromosome 5; 5p12

1.51. FGFR4: Fibroblast Growth Factor Receptor 4. Chromosome 5; 5q35.2

1.52. FLT4: FMS-Related Receptor Tyrosine Kinase 4. Chromosome 5; 5q35.3

1.53. GDNF: Glial Cell-Derived Neurotrophic Factor. Chromosome 5; 5p13.2

1.54. GPX3: Glutathione Peroxidase 3. Chromosome 5; 5q33.1

1.55. HAVCR2: Hepatitis A Virus Cellular Receptor 2. Chromosome 5; 5q33.3

1.56. HBEGF: Heparin-Binding Egf-Like Growth Factor. Chromosome 5; 5q31.3

1.57. HDAC3: Histone Deacetylase 3. Chromosome 5; 5q31.3

1.58. HINT1: Histidine Triad Nucleotide-Binding Protein 1. Chromosome 5; 5q23.3

1.59. HMMR: Hyaluronan-Mediated Motility Receptor. Chromosome 5; 5q34

1.60. IL12B: Interleukin 12B. Chromosome 5 ; 5q33.3

1.61. IL13: Interleukin 13. Chromosome 5 ; 5q31.1

1.62. IL4: Interleukin 4. Chromosome 5; 5q31.1

1.63. IL6ST: Interleukin 6 Signal Transducer. Chromosome 5; 5q11.2

1.64. IL7R: Interleukin 7 Receptor. Chromosome 5; 5p13.2

1.65. IRF1: Interferon Regulatory Factor 1. Chromosome 5; 5q31.1

1.66. ITGA1: Integrin Subunit Alpha 1. Chromosome 5; 5q11.2

1.67. ITK: IL2 Inducible T Cell Kinase. Chromosome 5; 5q33.3

1.68. LIFR: LIF Receptor Subunit Alpha. Chromosome 5; 5p13.1

1.69. LOX: Lysyl Oxidase. Chromosome 5; 5q23.1

1.70. MAML1: Mastermind-Like Transcriptional Coactivator 1. Chromosome 5; 5q35.3

1.71. MAP3K1: Mitogen-Activated Protein Kinase Kinase Kinase 1. Chromosome 5; 5q11.2

1.72. MCC: MCC Regulator of Wnt Signaling Pathway. Chromosome 5; 5q22.2

1.73. MEF2C: Myocyte Enhancer Factor 2c. Chromosome 5; 5q14.3

1.74. MTRR: 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase. Chromosome 5; 5q15.31

1.75. NEUROG1: Neurogenin 1. Chromosome 5 ; 5q14.3

1.76. NSD1: Nuclear Receptor Binding Set Domain Protein 1. Chromosome 5; 5q35.3

1.77. PITX1: Paired Like Homeodomain 1. Chromosome 5; 5q35.3

1.78. PDGFRB: Platelet-Derived Growth Factor Receptor Beta. Chromosome 5; 5q32

1.79. PLK2: Polo-Like Kinase 2. Chromosome 5; 5q11.2

1.80. POLK: DNA Polymerase Kappa. Chromosome 5; 5q13.3

1.81. PTTG1: PTTG1 Regulator of Sister Chromatid Separation, Securing. Chromosome 5; 5q33.3

1.82. PRLR: Prolactin Receptor. Chromosome 5; 5p13.2

1.83. RAD50: RAD50 Double Strand Break Repair Protein. Chromosome 5; 5q31.1

1.84. RICTOR: RPTOR Independent Companion of Mtor Complex 2. Chromosome 5 ; 5p13.1

1.85. RACK1: Receptor for Activated C Kinase 1. Chromosome 5; 5q35.3

1.86. SPRY4: Sprouty RTK Signaling Antagonist 4. Chromosome 5; 5q31.3

1.87. SDHA: Succinate Dehydrogenase Complex Flavoprotein Subunit A. Chromosome 5 ; 5p15.33

1.88. SELENOP: Selenoprotein P. Chromosome 5 ; 5p12

1.89. SKP1: S-Phase Kinase-Associated Protein 1. Chromosome 5; 5q31.1

1.90. SMAD5: SMAD Family Member 5. Chromosome 5; 5q31.1

1.91. SPARC: Secreted Protein Acidic and Cysteine-Rich. Chromosome 5; 5q33.1

1.92. SPINK1: Serine Peptidase Inhibitor Kazal Type 1. Chromosome 5; 5q32

1.93. TCF7: Transcription Factor 7. Chromosome 5; 5q31.1

1.94. TERT: Telomerase Reverse Transcriptase. Chromosome 5 ; 5p15.33

1.95. TGFB1: Transforming Growth Factor Beta-Induced. Chromosome 5; 5q31.1

1.96. TLX3: T Cell Leukemia Homeobox 3. Chromosome 5; 5q35.1

1.97. TRIO: Trio Rho Guanine Nucleotide Exchange Factor. Chromosome 5; 5p15.2

1.98. VCAN: Versican. Chromosome 5; 5q14.2-q14.3

1.99. XRCC4: X-Ray Repair Cross-complementing 4. Chromosome 5; 5q14.2

CONCLUSION

REFERENCES

Chromosome 6

Abstract

1.1. Gene- AFDN; AF-6; Afadin, Adherens Junction Formation Factor Location: 6p27

1.1.1. The Disease of Relevance

1.2. Gene- DEK; DEK Proto-Oncogene Location: 6p22.3

1.2.1. The Disease of Relevance

1.3. Gene: ROS1, ROS Proto-Oncogene 1, Receptor Tyrosine Kinase Location: 6q22.1

1.3.1. The Disease of Relevance

1.4. Gene: CCND3, Cyclin D3 Location: 6p21.1

1.4.1. The Disease of Relevance:

1.5. Gene: CCN2, Cellular Communication Network Factor 2, CTGF Location: 6q23.2

1.5.1. The Disease of Relevance:

1.6. Gene: GOPC, Golgi-Associated PDZ, and Coiled-Coil Motif-Containing Protein, FIG Location: 6q22.1

1.6.1. The Disease of R Elevance:

1.7. Gene: MAP3K5, Mitogen-Activated Protein Kinase Kinase Kinase 5 Location: 6q23.3

1.7.1. The Disease of Relevance:

1.8. Gene: FOXC1, Forkhead Box C1 Location: 6p25.3

1.8.1. The Disease of Relevance:

1.9. Gene: FGFR1OP, FGFR1 Oncogene Partner Location: 6q27

1.9.1. The Disease of Relevance:

1.10. Gene: IGF2R, Insulin-Like Growth Factor 2 Receptor Location: 6q25.3

1.10.1. The Disease of Relevance

1.11. Gene: AIM1, Absent In Melanoma, CRYBG1 Location: 6q21

1.11.1. The Disease of Relevance:

1.12. Gene: HACE1, HECT Domain, and Ankyrin Repeat-Containing E3 Ubiquitin-Protein Ligase 1 Location: 6q16.3

1.12.1. The Disease of Relevance:

1.13. Gene: RIPK1, Receptor-Interacting Serine/Threonine Kinase 1 Location: 6p25.2

1.13.1. The Disease of Relevance:

1.14. Gene: THSB2, thrombospondin 2 Location: 6q27

1.14.1. The Disease of Relevance:

1.15. Gene: PTPRK, Protein Tyrosine Phosphatase Receptor Type k Location: 6q22.33

1.15.1. The Disease of Relevance:

1.16. Gene: HSP90AB1; Heat Shock Protein 90 Alpha Family Class B Member 1 Location: 6p21.1

1.16.1. The Disease of Relevance:

1.17. Gene: IRF4, Interferon Regulatory Factor 4 Location: 6p25.3

1.17.1. The Disease of Relevance:

1.18. Gene: VIP, Vasoactive Intestinal Peptide Location: 6q25.2

1.18.1. The Disease of Relevance:

1.19. Gene: HMGA1, High Mobility Group AT-hook 1 Location: 6p21.31

1.19.1. The Disease of Relevance:

1.20. Gene: MYB, MYB Proto-Oncogene Location: 6q23.3

1.20.1. The Disease of Relevance:

1.21. Gene: TNF, Tumor Necrosis Factor, TNF-Alpha Location: 6p21.33

1.21.1. The Disease of Relevance:

1.22. Gene: SRSF3, Serine And Arginine-Rich Splicing Factor 3 Location: 6p21.31-p21.2

1.22.1. The Disease of Relevance:

1.23. Gene: CD24, CD24 ZMolecule Location: 6q21

1.23.1. The Disease of Relevance:

1.24. Gene: VEGFA, Vascular Endothelial Growth Factor A Location: 6p21.1

1.24.1. The Disease of Relevance:

1.25. Gene: LTA, Lymphotoxin A Location: 6p21.33

1.25.1. The Disease of Relevance:

1.26. Gene: LIN28B, lin-28 homolog B Location: 6q16.3-q21

1.26.1. The Disease of Relevance:

1.27. Gene: LTB, Lymphotoxin Beta Location: 6p21.33

1.27.1. The Disease of Relevance:

1.28. Gene: LATS1, Large Tumor Suppressor Kinase 1 Location: 6q25.1

1.28.1. The Disease of Relevance:

1.29. Gene: IL17A, Interleukin 17A Location: 6p12.2

1.29.1. The Disease of Relevance:

1.30. Gene 30: SOX4, SRY-Box Transcription Factor 4 Location: 6p22.3

1.30.1. The Disease of Relevance:

1.31. Gene: ESR1; Estrogen Receptor 1, ER Location: 6q25.1-q25.2

1.31.1. The Disease of Relevance:

1.32. Gene: CDKN1A, Cyclin Dependent Kinase Inhibitor 1A, P21 Location: 6p21.2

1.32.1. The Disease of Relevance:

1.33. Gene: TRIM27. Tripartite Mot6if Containing 27 Location: 6p22.1

1.31.1. The Disease of Relevance:

1.34. Gene: PLAGL1; PLAG1 Like Zinc Finger 1 Location: 6q24.2

1.34.1. The Disease of Relevance:

1.35. Gene: NOTCH4; Notch Receptor 4 Location: 6p21.32

1.35.1. The Disease of Relevance:

1.36. Gene: NEDD9; Neural Precursor Cell Expressed, Developmentally Down-Regulated 9 Location: 6p24.2

1.36.1. Disease if Relevance:

1.37. Gene: MAPK14; Mitogen Activated Protein Kinase 14; p38 Location: 6p21.31

1.37.1. The Disease of Relevance:

1.38. Gene: GSTA1; Glutathione S-Transferase Alpha 1 Location: 6p12.2

1.38.1. The Disease of Relevance:

39. Gene: GJA1; Gap Junction Protein Alpha 1, Connexin 43 [Cx43] Location: 6q22.31

1.39.1. The Disease of Relevance:

1.40. Gene: DAXX, Death Domain-Associated Protein Location: 6p21.32

1.40.1. The Disease of Relevance

CONCLUSION

REFERENCES

Chromosome 7

Abstract

1.1. ABCB5 - ATP Binding Cassette Subfamily B Member 5 Location: Chromosome 7; 7p21.1

1.2. ACTB – Actin Beta Location: Chromosome 7; 7p22.1

1.3. AGR2 - Anterior Gradient 2 Location: Chromosome 7; 7p21.1

1.4. AKAP9 - A-Kinase Anchoring Protein 9 Location: Chromosome 7; 7q21.2

1.5. AMPH – Amphiphysin Location: Chromosome 7; 7p14.1

1.6. AQP1 - Aquaporin 1 Location: Chromosome 7; 7p14.3

1.7. BRAF - B-Raf Proto-Oncogene, Serine/Threonine Kinase Location: Chromosome 7; 7q34

1.8. CARD11 - Caspase Recruitment Domain Family Member 11 Location: Chromosome 7; 7p22.2

1.9. CCM2 - CCM2 Scaffold Protein Location: Chromosome 7; 7p13

1.10. CDK6 - Cyclin-Dependent Kinase 6 Location: Chromosome 7; 7q21.2

1.11. CREB3L2 - cAMP Responsive Element Binding Protein Three Like 2 Location: Chromosome 7; 7q33

1.12. CUX1 - Cut Like Homeobox 1 Location: Chromosome 7; 7q22.1

1.13. EGFR - Epidermal Growth Factor Receptor Location: Chromosome 7; 7p11.2

1.14. ELN – Elastin Location: Chromosome 7; 7q11.23

1.15. ETV1 - ETS Variant Transcription Factor 1 Location: Chromosome 7; 7p21.2

1.16. EZH2 - Enhancer of Zeste 2 Polycomb Repressive Complex 2 Subunit Location: Chromosome 7; 7q36.1

1.17. GLI3 - GLI Family Zinc Finger 3 Location: Chromosome 7; 7p14.1

1.18. HIP1 - Huntingtin Interacting Protein 1 Location: Chromosome 7; 7q11.23

1.19. HNRNPA2B1 - Heterogeneous Nuclear Ribonucleoprotein A2/B1 Location: Chromosome 7; 7p15.2

1.20. HOXA1 - Homeobox A1 Location: Chromosome 7; 7p15.2

1.21. HOXA4 - Homeobox A4 Location: Chromosome 7; 7p15.2

1.22. HOXA5 - Homeobox A5 Location: Chromosome 7; 7p15.2

1.23. IGFBP1 - InsulinInsulin-Like Factor Binding Protein 1 Location: Chromosome 7; 7p12.3

1.24. IGFBP3 - Insulin-Like Growth Factor Binding Protein 3 Location: Chromosome 7; 7p12.3

1.25. IL6 - Interleukin 6 Location: Chromosome 7; 7p15.3

1.26. INHBA - Inhibin Subunit Beta A Location: Chromosome 7; 7p14.1

1.27. JAZF1 - JAZF Zinc Finger 1 Location: Chromosome 7; 7p15.2-p15.1

1.28. KIAA1549 - KIAA1549 Protein Location: Chromosome 7; 7q34

1.29. MACC1 - MET Transcriptional Regulator MACC1 Location: Chromosome 7; 7p21.1

1.30. MET - MET Proto-Oncogene, Receptor Tyrosine Kinase Location: Chromosome 7; 7q31.2

1.31. MNX1 - Motor Neuron And Pancreas Homeobox 1 Location: Chromosome 7; 7q36.3

1.32. PMS2 - PMS1 Homolog 2, Mismatch Repair System Component Location: Chromosome 7; 7p22.1

1.33. RAC1 - Rac Family Small GTPase 1 Location: Chromosome 7; 7p22.1

1.34. RALA - RAS Like Proto-Oncogene A Location: Chromosome 7; 7p14.1

1.35. SBDS - SBDS Ribosome Maturation Factor Location: Chromosome 7; 7q11.21

1.36. SEPT7 - Septin 7 Location: Chromosome 7; 7p14.2

1.37. SMO - Smoothened, Frizzled Class Receptor Location: Chromosome 7; 7q32.1

1.38. TES - Testin LIM Domain Protein Location: Chromosome 7; 7q31.2

1.39. TRIM24 - Tripartite Motif-Containing 24 Location: Chromosome 7; 7q33-q34

1.40. TWIST1 - Twist Family bHLH Transcription Factor 1 Location: Chromosome 7; 7p21.1

CONCLUSION

REFERENCES

Chromosome 8

Abstract

1.1. ADAM28: ADAM Metallopeptidase Domain 28 Chromosome 8; 8p21.2

1.2. ADAM32: ADAM Metallopeptidase Domain 32 Chromosome 8; 8p11.22

1.3. ADAM7: ADAM Metallopeptidase Domain 7 Chromosome 8; 8p21.2

1.4. ADAM9: ADAM Metallopeptidase Domain 9 Chromosome 8; 8p11.22

1.5. ADGRB1: Adhesion G Protein-Coupled Receptor B1 Chromosome 8; 8q24.3

1.6. ADHFE1: Alcohol Dehydrogenase Iron Containing 1 Chromosome 8; 8q13.1

1.7. AGO2: Argonaute RISC Catalytic Component 2 Chromosome 8; 8q24.3

1.8. ANGPT1: Angiopoietin 1 Chromosome 8; 8q23.1

1.9. ANGPT2: Angiopoietin 2 Chromosome 8; 8p23.1

1.10. ANK1: Ankyrin 1 Chromosome 8; 8p11.21

1.11. ANKRD46: Ankyrin Repeat Domain 46 Chromosome 8; 8q22.3

1.12. ANXA13: Annexin A13 Chromosome 8; 8q24.13

1.13. ARC: Activity Regulated Cytoskeleton Associated Protein Chromosome 8; 8q24.3

1.14. ARFGEF1: ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 1 Chromosome 8; 8q13.2

1.15. ARHGEF10: Rho Guanine Nucleotide Exchange Factor 10 Chromosome 8; 8p23.3

1.16. ASAH1: N-Acylsphingosine Amidohydrolase 1 Chromosome 8; 8p22

1.17. ASAP1: ArfGAP with SH3 Domain, Ankyrin Repeat, and PH Domain 1 Chromosome 8; 8q24.21-q24.22

1.18. ASH2L: ASH2-like, Histone Lysine Methyltransferase Complex Subunit Chromosome 8; 8p11.23

1.19. ASPH: Aspartate Beta-Hydroxylase Chromosome 8; 8q12.3

1.20. ATAD2: ATPase Family AAA Domain Containing 2 Chromosome 8; 8q24.13

1.21. ATP6V0D2: ATPase H+ Transporting V0 Subunit d2 Chromosome 8; 8q21.3

1.22. ATP6V1B2: ATPase H+ Transporting V1 Subunit B2 Chromosome 8; 8p21.3

1.23. ATP6V1C1: ATPase H+ Transporting V1 Subunit C1 Chromosome 8; 8q22.3

1.24. AZIN1: Antizyme Inhibitor 1 Chromosome 8; 8q22.3

1.25. BAALC: BAALC Binder of MAP3K1 and KLF4 Chromosome 8; 8q22.3

1.26. BLK: BLK Proto-Oncogene, Src Family Tyrosine Kinase Chromosome 8; 8p23.1

1.27. BNIP3L: BCL2 Interacting Protein 3 like Chromosome 8; 8p21.27

1.28. CCDC26: CCDC26 Long Non-Coding RNA Chromosome 8; 8q24.21

1.29. CCNE2: Cyclin NE2 Chromosome 8; 8q22.1

1.30. CDH17: Cadherin 17 Chromosome 8; 8q22.1

1.31. CEBPD: CCAAT Enhancer Binding Protein Delta Chromosome 8; 8q11.21

1.32. CLU: Clusterin Chromosome 8; 8p21.1

1.33. COPS5: COP9 Signalosome Subunit 5 Chromosome 8; 8q13.1

1.34. COX6C: Cytochrome C Oxidase Subunit 6C Chromosome 8; 8q22.2

1.35. CTSB: Cathepsin B Chromosome 8; 8p23.1

1.36. DLC1: DLC1 Rho GTPase Activating Protein Chromosome 8; 8p22

1.37. DOK2: Docking Protein 2 Chromosome 8; 8p21.3

1.38. DUSP4: Dual Specificity Phosphatase 4 Chromosome 8; 8p12

1.39. E2F5: E2F Transcription Factor 5 Chromosome 8; 8q21.2

1.40. EBAG9: Estrogen Receptor Binding Site Associated Antigen 9 Chromosome 8; 8q23.2

1.41. EIF3E: Eukaryotic Translation Initiation Factor 3 Subunit E Chromosome 8; 8q23.1

1.42. EXT1: Exostosin Glycosyltransferase 1 Chromosome 8; 8q24.11

1.43. FABP5: Fatty Acid Binding Protein 5 Chromosome 8; 8q21.13

1.44. FGFR1: Fibroblast Growth Factor Receptor 1 Chromosome 8; 8p11.23

1.45. GATA4: GATA Binding Protein 4 Chromosome 8; 8p23.1

1.46. HAS2: Hyaluronan Synthase 2 Chromosome 8; 8q24.13

1.47. HEY1: he's a Related Family bHLH Transcription Factor with YRPW Motif 1 Chromosome 8; 8q21.13

1.48. HSF1: Heat Shock Transcription Factor 1 Chromosome 8; 8q24.3

1.49. IDO1: Indoleamine 2,3-Dioxygenase 1 Chromosome 8; 8p11.21

1.50. IKBKB: Inhibitor of Nuclear Factor Kappa B Kinase Subunit Beta Chromosome 8; 8p11.21

1.51. IL7: Interleukin 7 Chromosome 8; 8q21.13

1.52. KAT6A: Lysine Acetyltransferase 6A Chromosome 8; 8p11.21

1.53. LOXL2: Lysyl Oxidase-Like 2 Chromosome 8; 8p21.3

1.54. LYN: LYN Proto-Oncogene, Src Family Tyrosine Kinase Chromosome 8; 8q12.1

1.55. LZTS1: Leucine Zipper Tumor Suppressor 1 Chromosome 8; 8p21.3

1.56. MCM4: Minichromosome Maintenance Complex Component 4 Chromosome 8; 8q11.21

1.57. MIR124-1: MicroRNA 124-1 Chromosome 8; 8p23.1

1.58. MOS: MOS Proto-Oncogene, Serine/Threonine Kinase Chromosome 8; 8q12.1

1.59. MSR1: Macrophage Scavenger Receptor 1 Chromosome 8; 8p22

1.60. MTDH: Metadherin Chromosome 8; 8q22.1

1.61. MTSS1: MTSS I-BAR Domain Containing 1 Chromosome 8; 8q24.13

1.62. MYC: MYC Proto-Oncogene, bHLH Transcription Factor Chromosome 8; 8q24.21

1.63. NAT1: N-Acetyltransferase 1 Chromosome 8; 8p22

1.64. NAT2: N-Acetyltransferase 2 Chromosome 8; 8p22

1.65. NBN: Nibrin Chromosome 8; 8q21.3

1.66. NCOA2: Nuclear Receptor Coactivator 2 Chromosome 8; 8q13.3

1.67. NDRG1: N-Myc Downstream Regulated 1 Chromosome 8; 8q24.22

1.68. NEFL: Neurofilament Light Chromosome 8; 8p21.2

1.69. CCN3: Cellular Communication Network Factor 3 Chromosome 8; 8q24.12

1.70. NRG1: Neuregulin 1 Chromosome 8; 8p12

1.71. NSD3: Nuclear Receptor Binding SET Domain Protein 3 Chromosome 8; 8p11.23

1.72. PCM1: Pericentriolar Material 1 Chromosome 8; 8p22

1.73. PINX1: PIN2 [TERF1] Interacting Telomerase Inhibitor 1 Chromosome 8; 8p23.1

1.74. PLAG1: Pleomorphic Adenoma G1 Zinc Finger Chromosome 8; 8q12.1

1.75. PLAT: Plasminogen Activator, Tissue Type Chromosome 8; 8p11.21

1.76. POLB: DNA Polymerase Beta Chromosome 8; 8p11.21

1.77. PRKDC: Protein Kinase, DNA-Activated, Catalytic Subunit Chromosome 8; 8q11.21

1.78. PSCA: Prostate Stem Cell Antigen Chromosome 8; 8q24.3

1.79. PTK2: Protein Tyrosine Kinase 2 Chromosome 8; 8q24.3

1.80. PTP4A3: Protein Tyrosine Phosphatase 4A3 Chromosome 8; 8q24.3

CONCLUSION

REFERENCES

Chromosome 9

Abstract

1.1. ABCA1 - ATP-Binding Cassette, Subfamily A, Member 1 Chromosome 9; 9q31.1

1.2. ANXA1 - Annexin A1 Chromosome 9; 9q21.13

1.3. AQP3 - Aquaporin 3 Chromosome 9; 9p13.3

1.4. BAG1 - BCL2- Associated Anthanogene 1 Chromosome 9; 9p13.3

1.5. BRINP1 - Bone Morphogenetic Protein/Retinoic Acid-Inducible Neural-Specific Protein 1 Chromosome 9; 9q33.1

1.6. CA9 - Carbonic Anhydrase 9 Chromosome 9; 9p13.3

1.7. CCL19 - C-C Motif Chemokine Ligand 19 Chromosome 9; 9p13.3

1.8. CCL21 - C-C Motif Chemokine Ligand 21 Chromosome 9; 9p13.3

1.9. CD274 - Molecule Programmed Cell Death 1 Ligand 1 Chromosome 9; 9p24.1

1.10. CDK9 - Cyclin-Dependent Kinase 9 Chromosome 9; 9q34.11

1.11. CDKN2B - Cyclin-Dependent Kinase Inhibitor 2B Chromosome 9; 9p21.3

1.12. CDKN2B-AS1- CDKN2B Antisense RNA 1 Chromosome 9; 9p21.3

1.13. CKS2 - CDC28 Protein Kinase Regulatory Subunit 2 Chromosome 9; 9q22.2

1.14. DAB2IP - DAB2 Interacting Protein Chromosome 9; 9q33.2

1.15. DAPK1-Death-Associated Protein Kinase 1 Chromosome 9; 9q21.33

1.16. DEC1- Deleted in Esophageal Cancer 1 Chromosome 9; 9q33.1

1.17. FOXE1- Forkhead Box E1 Chromosome 9; 9q22.33

1.18. GALT - Galactose-1-Phosphate Uridylyltransferase Chromosome 9; 9p13.3

1.19. GAS1 - Growth Arrest-Specific 1 Chromosome 9; 9q21.33

1.20. JAK2 - Janus Kinase 2 Chromosome 9; 9p24.1

1.21. KDM4C - Kysine Demethylase 4C Chromosome 9; 9p24.1

1.22. LCN2 - Lipocalin 2 Chromosome 9; 9q34.11

1.23. MELK - Maternal Embryonic Leucine Zipper Kinase Chromosome 9; 9p13.2

1.24. MLANA - Melan-A Chromosome 9; 9p24.1

1.25. MLLT3 - Super Elongation Complex Subunit Chromo some 9; 9p 21.3

1.26. MTAP - Methyl thio adenosine Phosphorylase Chromo some 9; 9p 21.3

1.27. NFIB - Nuclear Factor I B Chromosome 9; 9p23-p22.3

1.28. NOTCH1 - Notch Receptor 1 Chromosome 9; 9q34.3

1.29. NR4A3 - Nuclear Receptor Subfamily 4 Group A Member 3 Chromosome 9; 9q31.1

1.30. NUP214 - Nucleoporin 214 Chromosome 9; 9q34.13

1.31. PAX5 - Paired Box 5 Chromosome 9; 9p13.2

1.32. PBX3 - PBX Homeobox 3 Chromosome 9; 9q33.3

1.33. PCA3 - Prostate Cancer-Associated 3 Chromosome 9; 9q21.2

1.34. PSIP1 - PC4 and SFRS1 Interacting Protein 1 Chromosome 9; 9p22.3

1.35. PTCH1 - Patched 1 Chromosome 9; 9q22.32

1.36. PTPRD - Protein Tyrosine Phosphatase Receptor Type D Chromosome 9; 9p24.1-p23

1.37. RAD23B - RAD23 Homolog B Chromosome 9; 9q31.2

1.38. RAPGEF1 - RAP Guanine Nucleotide Exchange Factor 1 Chromosome 9; 9q34.13

1.39. RECK - Reversion-Inducing Cysteine-Rich Protein With Kazal Motifs Chromosome 9; 9p13.3

1.40. ROR2 - Receptor Tyrosine Kinase-Like Orphan Receptor 2 Chromosome 9; 9q22.31

CONCLUSION

REFERENCES

Chromosome 10

Abstract

1.1. ALL1 – Acute Lymphocytic Leukemia Location: Chromosome 10; 10q21

1.2. ALOX5 - Arachidonate 5-Lipoxygenase Location: Chromosome 10; 10q11.21

1.3. CAMK1D- Calcium/Calmodulin-Dependent Protein Kinase ID ` Location: Chromosome 10; 10p13

1.4. ARID5B: AT-Rich Interaction Domain 5B Location: Chromosome 10; 10q21.2

1.5. ARHGAP21 - Rho GTPase Activating Protein 21 Location: Chromosome 10; 10p12.1 – 10p12.3

1.6. AFAP1L2 - Actin Filament Associated Protein 1 Like 2 Location: Chromosome 10; 10q25.3

1.7. CCDC3 - Coiled Coil Domain-Containing 3 Chromosome 10; 10p13

1.8. CCNY - Cell Cycle Protein Cyclin Y Chromosome 10; 10p11.21

1.9. CDC 123 – Cell Division Cycle protein 123 Chromosome 10; 10p14-p13

1.10. CDH23 – Cadherin Related 23 Chromosome 10; 10q22.1

1.11. CCAR1- Cell division Cycle and Apoptosis Regulator 1 Chromosome 10; 10q21.3

1.12. COMMD3: COMM Domain Containing 3 Chromosome 10; 10p12.2

1.13. CXCL12: C-X-C Chemokine Ligand 12 Chromosome 10; 10q11.21

1.14. DDX50: Chromosome 10; 10p15.3

1.15. DEPP: Decidual Protein Induced by Progesterone [DEPP] Chromosome 10; 10q11.21

1.16. DHX32; DEAH Box Helicase 32 Chromosome 10; 10q26.2

1.17. EGR2 – Early Growth Response 2 Chromosome 10; 10q21.3

1.18. ECD: Human Ecdysoneless Chromosome 10; 10q22.2

1.19. EPC1 Gene: Enhancer of Polycomb Homolog 1 Chromosome 10; 10p11.22

1.20. ERCC6:Cockayne Syndrome B Protein Chromosome 10; 10q11.23

1.21. FAM107B Chromosome 10; 10p13

1.22. FAM13C: Family with Sequence Similarity 13C Chromosome 10; 10q21.1

1.23. FAM170B: Family with Sequence Similarity 170 Member B Chromosome 10; 10q11.23

1.24. FAM188A: Family with Sequence Similarity 188, Member A Chromosome 10; 10p13

1.25. FAM231A: Family Member Chromosome 10; 10q23.1

1.26. FAS-AS1: FAS Antisense RNA 1 [FAS-AS1] Chromosome 10; 10q23.31

1.27. FGFR2: Fibroblast Growth Factor Receptor 2 Chromosome 10; 10q26

1.28. FRA10AC1: FRA10A Associated CGG Repeat 1 Chromosome 10; 10q23.33

1.29. FRAT1: Chromosome 10; 10q24.1

1.30. FRAT2 Chromosome 10; 10q24.1

1.31. FRMPD2: FERM and PDZ Domain Containing 2 Chromosome 10; 10q11.22

1.32. GATA3: Chromosome 10; 10p14

1.33. GHITM: Growth Hormone Inducible Transmembrane Protein Chromosome 10; 10q23.1

1.34. GPRIN2: G Protein-Regulated Inducer of Neurite Outgrowth 2 Chromosome 10; 10q11.22

1.35. GTPBP4: Guanosine Triphosphate Binding Protein 4 Chromosome 10; 10p15.3

1.36. HELLS: Helicase, Lymphoid Specific Chromosome 10; 10q23.33

1.37. HKDC1: Hexokinase Domain Component 1 Chromosome 10; 10q22.1

1.38. KIN17: DNA/RNA Binding Protein Kin17 Chromosome 10; 10p14

1.39. MTG1 Mitochondrial Ribosome-Associated GTPase 1 Chromosome 10;

1.40. NRBF2: Nuclear Receptor-Binding Factor 2 Chromosome 10; 10q21.3

1.41. OTUD1: OTU Domain-Containing Protein-1 /OTU Deubiquitinase ` Chromosome 10; 10p12.2

1.42. PCDH15: Protocadherin 15 Chromosome 10; 10q21.1

1.43. PI4K2A: PhosphatidyLinositol 4-kinase 2-Alpha Chromosome 10; 10q24.2

1.44. PIP4K2A: Phosphatidylinositol-5-Phosphate 4-Kinase Type-2 Alpha Chromosome 10; 10p12.2

1.45. PLEKHS1: Pleckstrin Homology Domain-Containing S1 Chromosome 10; 10q25.3

1.46. PLXDC2: Plexin Domain-Containing Protein 2 Chromosome 10: 10p12.31

1.47. PTEN: Phosphatase and Tensin Homolog Chromosome 10; 10q23.31

1.48. FGF8: Fibroblast Growth Factor8 Chromosome 10; 10q24.32

1.49. FGFR2: Fibroblast Growth Factor Receptor2 Chromosome 10; 10q26.13

1.50. TACC2: Transforming Acidic Coiled-Coil Containing Protein 2 Chromosome 10; 10q26.13

1.51. CCDC6: Coiled -Coil Domain Containing 6 Chromosome 10; 10q21.2

1.52. KIF5B: Kinesin Family Member 5B Chromosome 10; 10p11.22

1.53. RET: Rearranged During Transfection Chromosome 10; 10q11.21

1.54. DKK1: Dickkopf WNT Signaling Pathway Inhibitor 1 Chromosome 10; 10q21.1

1.55. VTI1A: Vesicle Transport Through Interaction with t-SNAREs 1A Chromosome 10; 10q25.2

1.56. FAS: Fas Cell Surface Death Receptor Chromosome 10; 10q23.31

1.57. ZEB1: Zinc Finger E-Box Binding Homeobox 1 Chromosome 10; 10p11.22

1.58. NODAL: Nodal Growth Differentiation Factor Chromosome 10; 10q22.1

1.59. PRINS: Psoriasis-Associated Non-Protein Coding RNA Induced by Stress Chromosome 10; 10p12.1

1.60. VIM: Vimentin Chromosome 10; 10p13

1.61. MAPK8: Mitogen-Activated Protein Kinase 8/ JNK1 Chromosome 10; 10q11.22

1.62. PAX2: Paired Box 2 Chromosome 10; 10q24.31

1.63. TCF7L2: Transcription Factor 7 Like 2: Chromosome 10; 10q25.2-q25.3

1.64. TET1: Tet-Methylcytosine Dioxygenase 1 /Ten Eleven Translocation Chromosome 10; 10q21.3

1.65. KLF6: Kruppel-Like Factor 6 Chromosome 10; 10p15.2

1.66. MLLT10: MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor Chromosome 10 ; 10p12.31

1.67. MGMT: O-6-Methylguanine-DNA Methyltransferase Chromosome 10; 10q26.3

1.68. BAG3: Bcl-2 Associated Athanogene 3 Chromosome 10; 10q26.11

1.69. BTRC: Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase Chromosome 10; 10q24.32

1.70. POLL: DNA Polymerase Lambda Chromosome 10; 10q24.32

CONCLUSION

REFERENCES

Chromosome 11

Abstract

1.1. Gene - NUP98; Nucleoporin 98. Location - 11p15.4.

1.2. Gene - CCND1; Cyclin D1 Location - 11q13.3

1.3. Gene -BIRC3; Baculoviral-IAP Repeat Containing-3. Location - 11q22.2

1.4. Gene - POU2AF1; POU-Class 2 Homeobox-Associating Factor 1 Location - 11q23.1

1.5. Gene -KMT2A; Lysine-Methyltransferase 2 A. Location - 11q23.3.

1.6. Gene -CREB3L1; cAMP-Responsive Element-Binding Protein3 lik1. Location - 11p11.2

1.7. Gene - CARS1; Cysteinyl-Trna Synthetase 1. Location - 11p15.4

1.8. Gene - MALAT1; Metastasis-Associated Lung Adenocarcinoma Transcript 1. Location - 11q13.1

1.9. Gene -NUMA1; Nuclear-Mitotic Apparatus Protein1. Location - 11q13.4

1.10. Gene - MAML2; Mastermind-Like Transcriptional Co-Activator2 Location - 11q21

1.11. Gene -DDX10; DEAD Box Helicase10. Location - 11q22.3

1.12. Gene - PCSK7; Proprotein Convertase Subtilisin/Kexin Type 7. Location - 11q23.3

1.13. Gene - CBL; Cbl Proto-Oncogene. Location - 11q23.3

1.14. Gene -ARHGEF12; Rho-Guanine Nucleotide-Exchange Factor12. Location - 11q23.3.

1.15. Gene - RASSF5; Ras Association Domain Family Member 5, Location - 11q32.1

1.16. Gene -IGF2; Insulin-like Growth Factor 2. Location - 11p15.5

1.17. Gene - WT1; WT1 Transcription Factor. Location - 11p13.

1.18. Gene - HRAS; H-Ras Proto-Oncogene, GTPase. Location - 11p15.5

1.19. Gene - MEN1; Menin 1 Location - 11q13.1

1.20. Gene -ATM; ATM-Serine/Threonine-Kinase. Location - 11q22.3

1.21. Gene -SDHAF2; Succinate-Dehydrogenase Complex-Assembly Factor2 Location - 11q12.2

1.22. Gene - BDNF; Brain-Derived Neurotrophic Factor Location - 11p14.1

1.23. Gene - CD44; CD44 Molecule (Indian Blood Group) Location - 11p13

1.24. Gene - CD82; CD82 Molecule Location - 11p11.2

1.25. Gene - NOX4 Location - 11q14.3

1.26. Gene - CHEK1; Checkpoint Kinase 1. Location - 11q24.2

1.27. Gene -STIM1; Stromal-Interaction Molecule1. Location - 11p15.4

1.28. Gene - CCKBR; Cholecystokinin B Receptor Location - 11p15.4

1.29. Gene - IFITM1; Interferon-Induced Transmembrane Protein 1 Location - 11p15.5

1.30. Gene -MUC5AC; mucin5AC, Oligomeric-Mucus/Gel-Forming. Location - 11p15.5

1.31. Gene -MUC5B; Mucin5B, Oligomeric-Mucus/Gel-Forming. Location - 11p15.5

1.32. Gene - FEN1; flap structure-specific endonuclease Location - 11q12.2

1.33. Gene - PLAAT4; Phospholipase A and Acyltransferase 4 or RARRES3 (Retinoic Acid Receptor Responder Protein 3). Location - 11q12.3

1.34. Gene- IGF2-AS; IGF2 Antisense RNA Location - 11p15.5

1.35. Gene -MS4A1; Membrane-Spanning 4-Domains A1 Location - 11q12.2

1.36. Gene -CD151; CD151-Molecule (Raph Blood-Group) Location - 11p15.5

1.37. Gene - CTSD; Cathepsin D Location - 11p15.5

1.38. Gene - IL18; Interleukin 18 Location - 11q23.1

1.39. Gene - DRD2; Dopamine-ReceptorD2 Location - 11q23.2

1.40. Gene -CLMP; CXADR-like Membrane Protein Location - 11q24.1

1.41. Gene -KCNQ1OT1; KCNQ1 Opposite-Strand/Antisense Transcript1 Location - 11p15.5

CONCLUSION

REFERENCES

Chromosome 12

Abstract

1.1. A2M – Alpha-2-Macroglobulin, Chromosome 12; 12p13.31

1.2. A2LM1 - Alpha 2 Microglobulin like 1 Chromosome 12; 12p13.31

1.3. AACS-Acetoacetyl-CoA Synthetase Chromosome 12; 12q24.31

1.4. ABCB9 - ATP-Binding Cassette, Subfamily B, Member 9 Chromosome 12; 12q24.31

1.5. ABCC9 - ATP-Binding Cassette, Subfamily C, Member 9 Chromosome 12; 12p12.1

1.6. ABCD2 - ATP-Binding Cassette, Subfamily 3, Member 2 Chromosome 12; 12q12

1.7. ACRBP - Acrosin-Binding Protein Chromosome 12; 12p13-p12

1.8. ACSS3 - ACYL-CoA Synthetase Short Chain Family, Member 3Chromosome 12; 12q21.31

1.9. ACTR6 - Actin Related Protein 6 Chromosome 12; 12q23.1

1.10. ACVR1B - Activin A Receptor, Type IB Chromosome 12; 12q13.13

1.11. ACVRL1 - Activin A Receptor, Type Ii-Like 1 Chromosome 12;12q13.13

1.12. ADCY6 - Adenylate Cyclase 6 Chromosome 12; 12q13.12

1.13. ADGRD1 - Adhesion G Protein-Coupled Receptor D1 Chromosome 12; 12q24.33

1.14. ADIPOR2 - Adiponectin Receptor 2 Chromosome 12;12p13.33

1.15. AEBP2 - Ae-Binding Protein 2 Chromosome 12; 12p12.3

1.16. AGAP2 - ARF GTPase-Activating Protein With Gtpase Domain, Ankyrin Repeat, And Pleckstrin Homology Domain 2 Chromosome 12; 12q14.1

1.17. AICDA - Activation-Induced Cytidine Deaminase Chromosome 12; 12p13.31

1.18. ALDH1L2 - Aldehyde Dehydrogenase 1 Family, Member L2 Chromosome 12; 12q23.3

1.19. ALDH2 - Aldehyde Dehydrogenase 2 Family Chromosome 12;12q24.12

1.20. ALX1 - Aristaless-Like Homeobox 1 Chromosome 12; 12q21.31

1.21. AMHR2 - Anti-Mullerian Hormone Type Ii Receptor Chromosome 12; 12q13.13

1.22. AMIGO2 - Adhesion Molecule With Ig-Like Domain 2 Chromosome 12; 12q13.11

1.23. ANAPC7 - Anaphase-Promoting Complex, Subunit 7 Chromosome 12; 12q24.11

1.24. ANKRD33 - Ankyrin Repeat Domain 33 Chromosome 12; 12q13.13

1.25. ANKRD52 - Ankyrin Repeat Domain 52 Chromosome 12; 12q13.3

1.26. ANKS1B - Ankyrin Repeat And Sterile Alpha Motif Domains-Containing Protein 1B Chromosome 12;12q23.1

1.27. ANO6 - Anoctamin 6 Chromosome 12; 12q12

1.28. APAF1 - Apoptotic Protease Activating Factor 1 Chromosome 12;12q23.1

1.29. APOBEC1 - Apolipoprotein B Mrna-Editing Enzyme, Catalytic Polypeptide 1 Chromosome 12;12p13.31

1.30. APOF - Apolipoprotein F Chromosome 12; 12q13.3

1.31. APOLD1 -Apolipoprotein L Domain-Containing 1 Chromosome 12; 12p13.1

1.32. APPL2 - Adaptor Protein, Phosphotyrosine Interaction, Ph Domain, And Leucine Zipper-Containing Protein 2 Chromosome 12;12q23.3

1.33. AQP2 - Aquaporin 2 Chromosome 12; 12q13.12

1.34. AQP5 - Aquaporin 5 Chromosome 12;12q13.12

1.35. AQP6 - Aquaporin 6 Chromosome 12; 12q13.12

1.36. ARF3 - Adp-Ribosylation Factor 3 Chromosome 12; 12q13.12

1.37. ARHGAP9 - Rho Gtpase-Activating Protein 9 Chromosome 12; 12q13.3

1.38. ARHGDIB - Rho Gdp-Dissociation Inhibitor Beta Chromosome 12;12p12.3

1.39. ARID2 - At-Rich Interaction Domain-Containing Protein 2 Chromosome 12;12q12

1.40. ARL1 - Adp-Ribosylation Factor-Like 1 Chromosome 12;12q23.2

1.41. ARNTL2 - Aryl Hydrocarbon Receptor Nuclear Translocator-Like Proteinp Chromosome 12;12p11.232

1.42. ARPC3 - Actin-Related Protein 2/3 Complex, Subunit 3 Chromosome 12;12q24.11

1.43. ART4 - Adp-Ribosyltransferase 4 Chromosome 12;12p12.3

1.44. ASB8 - Ankyrin Repeat- And Socs Box-Containing Protein 8 Chromosome 12;12q13.11

1.45. ASCL1 - Achaete-Scute Family Bhlh Transcription Factor 1 Chromosome 12;12q23.2

1.46. ASCL4 - Achaete-Scute Family Bhlh Transcription Factor 4 Chromosome 12; 12q24.1

1.47. ASIC1 - Acid Sensing Ion Channel Subunit 1 Chromosome 12; 12q13.12

1.48. ATF1 - Activating Transcription Factor 1 Chromosome 12;12q13.12

1.49. ATF7 - Activating Transcription Factor 7 Chromosome 12;12q13.13

1.50. ATF7IP - Activating Transcription Factor 7- Interacting Protein Chromosome 12;12p13.1

1.51. BCL7A - B-Cell Cll/Lymphoma 7A Chromosome 12;12q24.31

1.52. BRAP - Brca1-Associated Protein Chromosome 12;12q24.12

1.53. BTG1 - B-Cell Translocation Gene 1 Chromosome 12;12q21.33

1.54. CCND2 - Cyclin D2 Chromosome 12;12p13.32

1.55. CD163 - CD163 Antigen Chromosome 12;12p13.31

1.56. CD63 - CD63 Antigen Chromosome 12;12q13.2

1.57. CD9 - CD9 Antigen Chromosome 12;12q13.31

1.58. CDK2 - Cyclin-Dependent Kinase 2 Chromosome 12;12q13.2

1.59. CDK2AP1 - CDK2-Associated Protein 1 Chromosome 12;12q24.31

1.60. CDK4 - Cyclin-Dependent Kinase 4 Chromosome 12;12q14.1

1.61. CDKN1B - Cyclin-Dependent Kinase Inhibitor 1B Chromosome 12;12p13.1

1.62. CHFR - Checkpoint Protein With Fha And Ring Finger Domains Chromosome 12;12q24.33

1.63. CKAP4 - Cytoskeleton-Associated Protein 4 Chromosome 12;12q23.3

1.64. CRY1 - Cryptochrome 1 Chromosome 12;12q23.3

CONCLUSION

REFERENCES

Cancer Genes

(Volume 1)

Edited by

Satish Ramalingam

Department of Genetic Engineering, School of Bioengineering

SRM Institute of Science and Technology

Kattankulathur-603203

India

BENTHAM SCIENCE PUBLISHERS LTD.

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FOREWORD

The collection of diseases known as cancer has been recognized as a deadly disease for more than 4000 years. Amazing improvements in the treatment of cancer have occurred in the past century. Still, however, understanding the molecular basis of cancers' origins remains incomplete. Neoplasms are complex diseases that involve mutations or aberrant expression of dozens of genes. The pace of cancer genetics research has expanded exponentially following the sequencing of the human genome. While a tremendous boon for cancer researchers, there have been numerous missed opportunities because the overwhelming numbers of papers published make it nearly impossible for any cancer researcher to keep up.

Dr. Satish Ramalingam and colleagues provide this extensive compendium of cancer genes. The catalog summarizes key data which implicates each gene in one or more cancers and summarizes key studies that explore each mechanism of action. The organization, by the chromosomes on which the genes are encoded, allows both experts and neophytes to cross-reference and facilitate their research objective(s).

The monograph is a compendious primer that will be a valuable resource for cancer biologists, clinical oncologists and students engaging in basic discovery, translational research, or clinical treatment of cancer.

Danny R. Welch, PhD University of Kansas Cancer Center Kansas City, Kansas, USA

PREFACE

Cancer incidence is rising and has become a leading cause of death in many cities worldwide. It is well documented that cancer initiation and progression depend on the genes expressed in the cell's genome. It is imperative to understand the genetics of this dreaded disease to win the war against it. As we attempted to understand the latest update about all cancer-related genes in all the chromosomes, we noticed a clear lacuna because no books cover all the important genes that play a role in cancer presented chromosome-wise for easy understanding. We have decided to fill the gap and compiled most of the genes that are identified to play an important role in cancer. We delve into the world of cancer-causing genes and their location on each chromosome. This book will provide valuable mechanistic insights about the mutations and dysregulation of cancer genes that provide an advantage for cancer cell survival during each stage of tumorigenesis. This volume provides a comprehensive overview of the cancer-causing genes located on chromosomes 1-12 and serves as an invaluable resource for researchers, medical professionals, and anyone interested in the genetic basis of cancer.

Satish Ramalingam Department of Genetic Engineering, School of Bioengineering SRM Institute of Science and Technology Kattankulathur-603203 India

List of Contributors

Abhishek MitraDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Aishwarya RajaDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Anindita MenonDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Harini HariharanDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Muthu Vijai Bharath VairamaniDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Ravi GorDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Satish RamalingamDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Saurav PanickerDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Sayooj MadhusoodananDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Shivani SinghDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Sivasankari RamaduraiDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Thilaga ThirugnanamDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203Yamini ChandraprakshDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India 603203

Chromosome 1

Ravi Gor1,Saurav Panicker1,Satish Ramalingam1,*

1 Department of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India

Abstract

Chromosome 1 is the largest human chromosome, constituting approxi-mately 249 million base pairs. Chromosome 1 is the largest metacentric chromosome, with “p” and “q” arms of the chromosome almost similar in length. Chromosome 1 abnormalities or inclusion of any mutations leads to developmental defects, mental, psychological, cancer, etc., among the most common diseases. 1/10th of the genes in chromosome 1 have been reported its involvement in cancer growth and development. These cancer genes result from chromosomal rearrangement, fusion genes, somatic mutations, point mutation, gene insertion, gene deletion, and many more. Some of these cancer-causing genes appear to be involved in cancer more often, and other novel genes are also enlisted in this chapter.

Keywords: Cancer, Developmental defects, Fusion gene, Gene, Gene insertion, Gene deletion, Metacentric, Mutation, p-arm, Point mutation, Psychological, q-arm, Somatic mutation.

*Corresponding author Satish Ramalingam: Department of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India; E-mail: [email protected]

1. INTRODUCTION

Chromosomes are the large chunk of hereditary material that carries information from four nucleotides. This together makes a list of instructions for making proteins, regulatory elements, and other nucleotides required to maintain the growth and normal development of the cells. A human cell constitutes 22 pairs of autosomes and two sex chromosomes, one from each parent. Chromosome 1 is the largest human chromosome, with about 249 million long DNA base pairs, representing about 8% of the total DNA in cells. Chromosome 1 likely contains 2000 to 2100 genes that function cooperatively to achieve the existence of a well-functioning cell. Since we know there are approximately more than 2000 genes coded in chromosome 1 alone, we take a deep look into how many are reported to be involved in cancer disease. The Atlas of Cancer Genetics and Cytogenetics in Oncology and Haematology is a freely available database where all the inform-

ation about the genes involved or has been reported for the cancer disease is updated regularly.

The list involves the proteins, microRNA, long non-coding RNA, etc., which are now included in the list. Among the 2000 genes on chromosome 1, 1/10th of its dynamic cancer growth and development have been reported. Out of these many genes, we have listed here some t, some top-notch genes that are repeatedly coming into the limelight and showing involvement in cancer.

1.1. MUC1: Mucin-1 Chromosome 1; 1q22

MUC1 protein is widely studied, and its expression is increased in various cancer types like breast, pancreatic, colon, etc. Human MUC1 protein is translated as a long single polypeptide, which auto cleaves into two subunits resulting in the formation of a non-covalent heterodimer. The MUC1-N subunit is expressed at the cell surface by forming a complex with the MUC1-C cytoplasmic subunit located in the cytoplasm [1]. Under typical situations, this assembly helps define polarity and create a protective mucous barrier in specialized organs, gastroin-testinal and respiratory tracts, or lumen lining ducts. In a different scenario of stress conditions, the cell’s polarity is lost, and the MUC1 protein is now positioned everywhere. MUC1-C cytoplasm domain is a 72 amino acid-long polypeptide and consists of various motifs which play an essential role in signaling. One of the binding motifs is CQC which is necessary to form a MUC1-C oligomer. The oligomerization process is critical for transporting MUC1-C to the nucleus and further its interaction with importin β, which helps transport MUC1-C to the nucleus. Inside the nucleus, MUC1-C associates with p53, β-catenin/TCF4, estrogen receptor α [ERα], NF-κB p65, and STATs. In MUC1-C, phosphorylation of the YEKV site induces the binding of β-catenin to the SAGNGGSSLS sequence. This stabilizes the β- catenin and activates Wnt target genes, such as cyclin D1 and CTFG. The cytoplasm subunit MUC1-C interacts with receptor tyrosine kinases [e.g., ErbB1- 4] and participates in downstream signaling pathways activating EGFR, FGFR3, PDGFRβ, and Met [2, 3]. MUC1-C tail domain also starts EZH2 and BMI1 in triple-negative breast cancer epigenetic reprogramming. MUC1-C interacts with MYC and selectively activates the MTA1 and MBD3 genes. These are components of NuRD signaling. This results in the activation of the NuRD complex and drives dedifferentiation and reprogramming of triple Negative Breast Cancer Cells [4].

1.2. NTRK1: Neurotrophic receptor Tyrosine Kinase-1 Location: Chromosome 1; 1q23.3

NTRK1 encodes a Tropomyosin receptor kinase [Trk]; these tyrosine kinases are membrane-bound and activated by neurotrophins. Some neutrophils which activate the receptors are Brain-derived neurotrophic factor [BDNF], nerve growth factor [NGF], neurotrophin-3, and neurotrophin-4. Neutrophine signaling results in cell proliferation, survival, the fate of the neural precursor's cell, programmed cell death, etc [5]. As the Trk receptors are activated by the neurotrophins, their function independent of the neurotrophins is also reported, which makes them an oncogene. The fusion of the tropomyosin gene with the locus of the extracellular locus of the Trk gene leads to the constitutive expression of the Trk gene, which results in continuous cellular proliferation [6]. Higher expression of the neurotrophins is a clear indication of the progression of cancer and decreases the survival of the patients [7].

1.3. PBX1: Pre-B-Cell Leukemia Transcription Factor-1 Chromosome 1; 1q23.3

PBX1 (Fig. 1) encodes a protein involved as a transcription factor and belongs to the PBX homeobox family. A fusion protein E2A-PBX1 is produced by the translocation of the t(1;19) (q23.3;p13). This chimeric protein contains transcrip-tional activation domains from E2A and the homeodomain of PBX1. This complex will disrupt the transcriptional regulation of genes under PBX1 control [8]. Fusion protein E2A-PBX1 has been reportedly associated with pre-B-Cell acute lymphoblastic leukemia. Overexpression of the chimeric protein E2A-PBX1 positive cells in mice has shown hyper-phosphorylation of PLCγ2, which is essential in the proliferation. Its binding has been located to understand the mechanism behind the E2A-PBX1 for enhancing the proliferation using bioinformatics analysis. It has been found that the chimeric protein binds to the kinases located upstream of the PLCγ2 gene, that is, ZAP70, LCK, and SYK. Expression of these kinases helps in the phosphorylation of the PLCγ2 and further its involvement in the proliferation [9]. The E2A-PBX1 fusion protein is also detected in non-small cell lung cancer, shows a standard genetic change, and can be used as a biomarker for the early detection of the disease [10].

1.4. ABL2: Tyrosine Protein Kinase ABL2 Chromosome 1; 1q25.2

ABL2 is a tyrosine-protein kinase that activates the cell's survival, invasion, angiogenesis and growth. ABL2 shows overlapping functions with its family member ABL1. A consistent increase in the expression of ABL2 has been reported in advanced high-grade renal, colorectal, and pancreatic tumors. This shows the direct involvement of the ABL2 in the tumor progression [11-13]. Reduced expression of ABL2 in non-small cell lung cancer lines reduced cell growth [14]. In the case of other solid tumors like invasive breast carcinoma, lung squamous cell carcinoma, etc., ABL2 showed higher amplification and higher mRNA expression in the cell, which correlates to the aggressiveness of the solid tumors [15].

Fig. (1)) This figure displays the loci of the genes from Chromosome 1 whose roles in cancer have been explained in this chapter. Sayooj Madhusoodanan designs this diagram.

1.5. Notch2: Neurogenic Locus Notch Homolog Protein-2 Chromosome 1; 1p12

Notch signaling is juxtracrine signaling which is also called contact-dependent signaling. Here, the Notch receptor physically contacts the ligand molecules from a member of the Delta, Serrate, and lag2 [DSL] family of proteins. Notch signaling is widely studied in cancer disease progression; out of the four subtypes of the Notch receptors, Notch2 is commonly found overexpressed in different types of cancer. The typical role of notch signaling in cell growth, survival, deciding the cell’s fatal, maintaining stemness, metastasis, and epithelial to mesenchymal transitional [16]. A recent study in breast cancer found that Notch2 signaling helps maintain breast cancer cell dormancy and safe mobilization to the bone microenvironment. These cancer cells compete with the Hematopoietic Stem Cells in the bone marrow in the endosteal niche made by N- cadherin-positive osteoblasts called SNPs. In this area, the cell remains in the dormant state until a significant change in cellular activity. Disrupting the notch2 signaling pathway makes the dormant cell divide and metastasize to a distant organ,s and the cancer relapse again. This shows the involvement of the notch2 signaling in maintaining the stemness properties of cancer and increases the cancer relapse after the treatment [17]. Notch2 has demonstrated its crucial role in regulating self-renewal and tumorigenicity in hepatocellular carcinoma cells [18]. Cancer stem cell-based gene expression studies have shown a novel gene signature of GSK3B [high], β-catenin [high], and notch2 [low] shown to correlate with a better patient survival rate [19]. Overall Notch2 expression is found to be high in cancer. It also indicates its involvement in maintaining the cancer cell's stem cell properties and increases the disease's prognosis.

1.6. NRAS: NRAS Proto-Oncogene Chromosome 1; 1p13.2

NRAS gene (Fig. 1) belongs to the family of RAS oncogenes. N-Ras protein is a GTPase and acts like a switch turned on and off by GTP and GDP molecules. Oncogenic mutation in the ras gene prevents GTP hydrolysis, resulting in constitutively active RAS protein and downstream signaling. In human melanoma cells, it is found that NRAS plays an essential role in protecting the cell from apoptosis. Most likely, it is done through activation of PKB/Akt via phosphoino-sitide 3’ [PI3]-kinase. Ras protein is also involved in maintaining the proliferation of cells by applying the Ras-Raf-mitogen-activated Protein kinase [MAPK] pathway [20]. This is how the NRAS oncogene shows its importance in tumorgenicity in different types of cancer like melanoma, leukemia, skin cancer, colorectal cancer, acute myeloid leukemia, thyroid, neuroblastoma, bladder cancer, etc.

1.7. JUN: Jun Proto-Oncogene Chromosome 1; 1p32.1

JUN (Fig. 1). encodes a protein c-jun similar to the v-jun protein [from avian sarcoma virus 17] and can induce oncogenic transformation in the targeted cells. C-Jun protein plays a vital role in the formation of transcription factors, which is essential in the various downstream processes, including proliferation, differen-tiation, Oncogenic Transformation, and Apoptosis. C-Jun protein forms a heterodimer with the Fos protein to form the transcription factor Activator Protein-1 [AP-1] [21-23]. c-Jun protein is the first cellular oncogene found to be overexpressed in human breast cancer. Knockdown c-June reduces memosphere formation, cell migration, and invasion. While the expression of c- Jun induces expansion of SCF and CCL5 for directly increasing the cellular migration and mammosphere expansion [24]. Tumor angiogenesis and further metastasis is the higher risk for the disease prognosis. C-Jun protein was found to play an essential role in the proliferation and angiogenesis of breast cancer [25].

1.8. TAL1: T-Cell Acute Lymphocytic Leukemia Protein-1 Chromosome 1; 1p33

T-cell acute lymphoblastic leukemia 1[TAL1], also known as Stem Cell Leuke-mia [SCL,] is a class II basic helix-loop-helix [bHLH] family of transcription factors and plays a critical role in the regulation of hematopoiesis [26]. TAL1 has an independent DNA binding motif and can bind to the other proteins to form significant transcription factors to regulate prior downstream example; the TAL1 p protein forms a heterodimer with E-proteins, binds to the E-box DNA-binding motif, ding motif, and holds several genes such as HBA [27, 28]. Ectopic overexpression of TAL1 is observed in most cases of T-Cell Acute Myeloid Leukemia. One of the researches, a transgenic mouse model with TAL1 misexpression in the thymus, shows that overexpressing TAL1 alone can play a transforming role. The tumorigenesis is drastically increased by co-expressing the catalytic domain of casein kinase IIalpha [CKIIalpha]. The higher expression of the TAL1 protein competes with the E-proteins and eventually leads to tumor formation. E-protein functions as a counter role to suppress the tumor, competing with the TAL-1 to form a heterodimer, does not allow the regular expression of the E-protein to repress the tumor formation and increases the ability of a transformed cell to create a tumor [27, 29]. Other studies have shown that TAL1 interactions with rising LMO1 oncogene the thymocyte progenitors inhibit the later differentiation of the cells. This makes the cell surface with the T-cell receptor and respective T-cell antigen receptor signaling. These conditions favor the NOTCH1 mutations and lead to the emergence of self-renewing leukemia-initiating cells in T-ALL [30].

1.9. JAK1: Jenus Kinase-1 Chromosome 1; 1p31.3

Janus kinase 1 [JAK1