Chromosome X

Genes Linked with Cancer (74)

How to use this data table Click on the gene name for detailed information. Type in the Search box e.g. 'germline' or 'Breast Cancer' to search within Chromosome X; or Sort by clicking on a column heading e.g. 'Gene'.

Gene Location Aliases Abnormalities Implicated in
TSPYL2 Xp11.22 CDA1, CTCL, NP79, TSPX, CINAP, DENTT, SE204, HRIHFB2216-Gonadoblastoma
-Non-Hodgkin Lymphoma
SSX2 Xp11.22 SSX, HD21, CT5.2, CT5.2A, HOM-MEL-40Somatic
Translocation
-Synovial Sarcoma
KDM5C Xp11.22 MRXJ, SMCX, MRX13, MRXSJ, XE169, MRXSCJ, JARID1C, DXS1272ESomatic-Kidney Cancer
-Pancreatic Cancer
WAS Xp11.23 THC, IMD2, SCNX, THC1, WASP, WASPA
PIM2 Xp11.23 -Acute Myeloid Leukaemia
-Liver Cancer
-Multiple Myeloma
-Prostate Cancer
SSX1 Xp11.23 SSRC, CT5.1Somatic
Translocation
-Synovial Sarcoma
SSX4 Xp11.23 CT5.4Somatic
Translocation
-Synovial Sarcoma
TFE3 Xp11.23 TFEA, RCCP2, RCCX1, bHLHe33Somatic
Translocation
-Kidney Cancer
-Lung Cancer
-Soft Tissue Sarcoma
HDAC6 Xp11.23 HD6, JM21, CPBHM, PPP1R90-Bladder Cancer
-Breast Cancer
-Skin Cancer
-Stomach Cancer
-Thyroid Cancer
ELK1 Xp11.23 -Breast Cancer
-Prostate Cancer
FOXP3 Xp11.23 JM2, AIID, IPEX, PIDX, XPID, DIETER-Breast Cancer
-Colorectal Cancer
-Melanoma
-Prostate Cancer
-Skin Cancer
SUV39H1 Xp11.23 MG44, KMT1A, SUV39H, H3-K9-HMTase 1-Acute Myeloid Leukaemia
-Breast Cancer
-Leukaemia
-Lung Cancer
-Pancreatic Cancer
-Prostate Cancer
GATA1 Xp11.23 GF1, GF-1, NFE1, XLTT, ERYF1, NF-E1, XLANP, XLTDA, GATA-1Somatic-Acute Myeloid Leukaemia
-Down Syndrome
-Leukaemia
-Myeloproliferative Disorders
GAGE1 Xp11.23 CT4.1, CT4.4, GAGE4, GAGE-1, GAGE-4-Liver Cancer
-Lung Cancer
-Melanoma
-Neuroblastoma
-Ovarian Cancer
-Pancreatic Cancer
-Stomach Cancer
-Thyroid Cancer
ARAF Xp11.3 PKS2, A-RAF, ARAF1, RAFA1-Thyroid Cancer
TIMP1 Xp11.3 EPA, EPO, HCI, CLGI, TIMP, TIMP-1-Breast Cancer
-Cervical Cancer
-Lung Cancer
-Melanoma
-Thyroid Cancer
KDM6A Xp11.3 UTX, KABUK2, bA386N14.2Somatic-Breast Cancer
-Kidney Cancer
-Medulloblastoma
-Pancreatic Cancer
-Prostate Cancer
SRPX Xp11.4 DRS, ETX1, SRPX1, HEL-S-83p-Bladder Cancer
-Lung Cancer
-Small Cell Lung Cancer
-Multiple Myeloma
-Prostate Cancer
BCOR Xp11.4 MAA2, ANOP2, MCOPS2Somatic-Acute Myeloid Leukaemia
-Bone Cancer (primary)
-Endometrial Cancer
-Ewing's Sarcoma
-Kidney Cancer
-Skin Cancer
-Soft Tissue Sarcoma
DDX3X Xp11.4 DBX, DDX3, HLP2, DDX14, CAP-Rf, MRX102-Liver Cancer
-Medulloblastoma
NR0B1 Xp21.2 AHC, AHX, DSS, GTD, HHG, AHCH, DAX1, DAX-1, NROB1, SRXY2-Adrenocortical Cancer
-Bone Cancer (primary)
-Ewing's Sarcoma
-Lung Cancer
-Wilms Tumour
MAGEB2 Xp21.2 DAM6, CT3.2, MAGE-XP-2-Breast Cancer
-Colorectal Cancer
-Eye Cancer
-Head and Neck Cancers
-Liver Cancer
-Lung Cancer
-Melanoma
-Ovarian Cancer
-Skin Cancer
-Stomach Cancer
-Testicular Cancer
TLR7 Xp22.2 TLR7-like-Cervical Cancer
-Chronic Lymphocytic Leukemia
-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Multiple Myeloma
-Pancreatic Cancer
-Skin Cancer
-Basal Cell Carcinoma (BCC) - Skin
ZRSR2 Xp22.2 URP, ZC3H22, U2AF1L2, U2AF1RS2, U2AF1-RS2Somatic-Acute Myeloid Leukaemia
-Chronic Myelogenous Leukemia
-Haematological Malignancies
-Myelodysplastic Syndromes
FANCB Xp22.2 FA2, FAB, FACB, FAAP90, FAAP95Germline-Fanconi Anaemia
HCCS Xp22.2 MLS, CCHL, MCOPS7, LSDMCA1-Liver Cancer
CD99 Xp22.33 and Yp11.2 MIC2, HBA71, MIC2X, MIC2Y, MSK5XOverexpression-Bone Cancer (primary)
-Ewing's Sarcoma
-Kidney Cancer
-Soft Tissue Sarcoma
-Vulvar Cancer
-Wilms Tumour
AMER1 Xq11.2 WTX, OSCS, FAM123BSomatic-Wilms Tumour
AR Xq12 KD, AIS, AR8, TFM, DHTR, SBMA, HYSP1, NR3C4, SMAX1, HUMARA-Bladder Cancer
-Breast Cancer
-Melanoma
-Multiple Myeloma
-Pancreatic Cancer
-Prostate Cancer
-Rhabdomyosarcoma
MSN Xq12 HEL70, IMD50Somatic-Breast Cancer
-Lung Cancer
-Melanoma
-Ovarian Cancer
-Skin Cancer
CITED1 Xq13.1 MSG1-Kidney Cancer
-Melanoma
-Thyroid Cancer
-Wilms Tumour
IL2RG Xq13.1 P64, CIDX, IMD4, CD132, SCIDX, IL-2RG, SCIDX1-Acute Myeloid Leukaemia
-Breast Cancer
-Chronic Myelogenous Leukemia
-Leukaemia
-Lung Cancer
CXCR3 Xq13.1 GPR9, MigR, CD182, CD183, Mig-R, CKR-L2, CMKAR3, IP10-R-Cervical Cancer
-Kidney Cancer
-Lung Cancer
-Stomach Cancer
FOXO4 Xq13.1 AFX, AFX1, MLLT7Somatic-Bladder Cancer
-Bone Cancer (primary)
-Ewing's Sarcoma
-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Prostate Cancer
MED12 Xq13.1 OKS, FGS1, HOPA, OPA1, OHDOX, ARC240, CAGH45, MED12S, TNRC11, TRAP230Somatic-Adrenocortical Cancer
-Breast Cancer
-Prostate Cancer
-Soft Tissue Sarcoma
-Uterine Sarcoma
NONO Xq13.1 P54, NMT55, NRB54, MRXS34, P54NRB, PPP1R114Somatic-Bladder Cancer
-Kidney Cancer
-Melanoma
XIST Xq13.2 SXI1, swd66, DXS1089, DXS399E, LINC00001, NCRNA00001-Breast Cancer
-Colorectal Cancer
-Germ Cell Tumours
-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Ovarian Cancer
-Prostate Cancer
-Stomach Cancer
-Testicular Cancer
-Uterine Sarcoma
UPRT Xq13.3 UPP, FUR1-Brain Tumours, Childhood
-Pancreatic Cancer
-Prostate Cancer
ATP7A Xq21.1 MK, MNK, DSMAX, SMAX3-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Ovarian Cancer
-Skin Cancer
PGK1 Xq21.1 PGKA, MIG10, HEL-S-68p-Bladder Cancer
-Brain Tumours, Childhood
-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Lung Cancer
-Prostate Cancer
-Stomach Cancer
ATRX Xq21.1 JMS, XH2, XNP, MRX52, RAD54, RAD54L, ZNF-HXSomatic-Astrocytoma, Childhood
-Brain and CNS Tumours
-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Neuroblastoma
-Pancreatic Cancer
-von Hippel-Lindau Disease
NOX1 Xq22.1 MOX1, NOH1, NOH-1, GP91-2-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Prostate Cancer
-Stomach Cancer
TCEAL7 Xq22.2 WEX5-Esophageal Cancer
-Ovarian Cancer
-Stomach Cancer
COL4A5 Xq22.3 ATS, ASLN, ATS1, CA54-Esophageal Cancer
COL4A6 Xq22.3 DFNX6, DELXq22.3, CXDELq22.3-Esophageal Cancer
-Stomach Cancer
PSMD10 Xq22.3 p28, p28(GANK), dJ889N15.2-Bone Cancer (primary)
-Colorectal Cancer
-Liver Cancer
-Stomach Cancer
AGTR2 Xq23 AT2, ATGR2, MRX88-Adrenocortical Cancer
-Bladder Cancer
-Breast Cancer
-Liver Cancer
-Lung Cancer
-Pancreatic Cancer
-Prostate Cancer
SEPTIN6 Xq24 SEP2, SEPT2, SEPT6Somatic-Acute Myeloid Leukaemia
-Leukaemia
IL13RA1 Xq24 NR4, CT19, CD213A1, IL-13Ra-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Hodgkin Lymphoma
-Prostate Cancer
XIAP Xq25 API3, ILP1, MIHA, XLP2, BIRC4, IAP-3, hIAP3, hIAP-3-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Ovarian Cancer
-Pancreatic Cancer
-Stomach Cancer
STAG2 Xq25 SA2, SA-2, SCC3B, NEDXCF, bA517O1.1-Acute Myeloid Leukaemia
-Bladder Cancer
-Bone Cancer (primary)
-Ewing's Sarcoma
-Myelodysplastic Syndromes
-Salivary Gland Cancer
-Transitional Cell Cancer of the Renal Pelvis and Ureter
SH2D1A Xq25 LYP, SAP, XLP, DSHP, EBVS, IMD5, XLPD, MTCP1, XLPD1, SAP/SH2D1A-Hodgkin Lymphoma
-Non-Hodgkin Lymphoma
AIFM1 Xq26.1 AIF, AUNX1, CMT2D, CMTX4, COWCK, DFNX5, NADMR, NAMSD, PDCD8, COXPD6-Bladder Cancer
-Breast Cancer
-Liver Cancer
-Prostate Cancer
ELF4 Xq26.1 MEF, ELFRSomatic-Acute Myeloid Leukaemia
-Cervical Cancer
-Leukaemia
-Liver Cancer
PHF6 Xq26.2 BFLS, BORJ, CENP-31Somatic-Acute Myeloid Leukaemia
GPC3 Xq26.2 SGB, DGSX, MXR7, SDYS, SGBS, OCI-5, SGBS1, GTR2-2Germline-Breast Cancer
-Liver Cancer
-Lung Cancer
-Thyroid Cancer
-Wilms Tumour
MIR106A Xq26.2 mir-106, MIRN106A, mir-106a-Bladder Cancer
-Cervical Cancer
-Colorectal Cancer
-Kidney Cancer
-Ovarian Cancer
HPRT1 Xq26.2-q26.3 HPRT, HGPRT-Bladder Cancer
-Cervical Cancer
-Skin Cancer
-Wilms Tumour
TGCT1 Xq27 -Testicular Cancer
HPCX Xq27-q28 -Prostate Cancer
MCF2 Xq27.1 DBL, ARHGEF21-Ewing's Sarcoma
-Neuroblastoma
-Testicular Cancer
FMR1 Xq27.3 POF, FMRP, POF1, FRAXA-Acute Lymphocytic Leukaemia (ALL)
-Brain Tumours, Childhood
-Breast Cancer
-Liver Cancer
-Ovarian Cancer
FLNA Xq28 FLN, FMD, MNS, OPD, ABPX, CSBS, CVD1, FGS2, FLN1, NHBP, OPD1, OPD2, XLVD, XMVD, FLN-A, ABP-280-Acute Myeloid Leukaemia
-Bladder Cancer
-Breast Cancer
-Melanoma
-Prostate Cancer
DKC1 Xq28 DKC, CBF5, DKCX, NAP57, NOLA4, XAP101-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Pituitary Tumors
-Prostate Cancer
-Skin Cancer
IRAK1 Xq28 IRAK, pelle-Bladder Cancer
-Liver Cancer
-Pancreatic Cancer
-Prostate Cancer
-Waldenstrom's Macroglobulinemia
MTCP1 Xq28 p8MTCP1, P13MTCP1Somatic-Ataxia-telangiectasia
-Leukaemia
MAGEA3 Xq28 HIP8, HYPD, CT1.3, MAGE3, MAGEA6-Bladder Cancer
-Liver Cancer
-Lung Cancer
-Melanoma
-Neuroblastoma
-Ovarian Cancer
-Skin Cancer
-Soft Tissue Sarcoma
-Stomach Cancer
-Testicular Cancer
MECP2 Xq28 RS, RTS, RTT, PPMX, MRX16, MRX79, MRXSL, AUTSX3, MRXS13-Breast Cancer
-Prostate Cancer
L1CAM Xq28 S10, HSAS, MASA, MIC5, SPG1, CAML1, CD171, HSAS1, N-CAML1, NCAM-L1, N-CAM-L1-Breast Cancer
-Endometrial Cancer
-Melanoma
-Osteosarcoma
-Ovarian Cancer
-Pancreatic Cancer
-Skin Cancer
-Stomach Cancer
G6PD Xq28 G6PD1-Chronic Myelogenous Leukemia
-Leukaemia
-Myeloproliferative Disorders
-Parathyroid Cancer
-Thyroid Cancer
-Wilms Tumour
CTAG1B Xq28 CTAG, ESO1, CT6.1, CTAG1, LAGE-2, LAGE2B, NY-ESO-1-Bladder Cancer
-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Melanoma
-Prostate Cancer
-Skin Cancer
-Soft Tissue Sarcoma
-Stomach Cancer
-Testicular Cancer
MAGEA1 Xq28 CT1.1, MAGE1-Bladder Cancer
-Eye Cancer
-Liver Cancer
-Melanoma
-Neuroblastoma
-Ovarian Cancer
-Skin Cancer
-Stomach Cancer
-Testicular Cancer
-Thyroid Cancer
-Wilms Tumour
MAGEA4 Xq28 CT1.4, MAGE4, MAGE4A, MAGE4B, MAGE-41, MAGE-X2-Breast Cancer
-Eye Cancer
-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Melanoma
-Ovarian Cancer
-Testicular Cancer
MAGEA2 Xq28 CT1.2, MAGE2, MAGEA2A-Melanoma

Structural Abnormalities

Selected list of common recurrent structural abnormalities - Chromosome X:

This is a highly selective list aiming to capture structural abnormalies which are frequesnt and/or significant in relation to diagnosis, prognosis, and/or characterising specific cancers. For a much more extensive list see the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer.

Further Resources (3 links)

Disclaimer: This site is for educational purposes only; it can not be used in diagnosis or treatment.

Cite this page: Cotterill SJ. Chromosome X, Cancer Genetics Web: http://www.cancer-genetics.org/clinkc23.htm Accessed:

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