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  Chromosome X

Genes Linked with Cancer (73)

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
KDM6A Xp11.2 UTX, KABUK2, bA386N14.2Somatic-Medulloblastoma
-Kidney Cancer
-Prostate Cancer
TSPYL2 Xp11.2 CDA1, CTCL, NP79, TSPX, CINAP, DENTT, SE204, HRIHFB2216-Gonadoblastoma
-Non-Hodgkin Lymphoma
ELK1 Xp11.2 -Breast Cancer
-Prostate Cancer
SSX2 Xp11.22 SSX, HD21, CT5.2, CT5.2A, HOM-MEL-40Somatic
Translocation
-Synovial Sarcoma
TFE3 Xp11.22 TFEA, RCCP2, RCCX1, bHLHe33Somatic
Translocation
-Kidney Cancer
-Lung Cancer
-Soft Tissue Sarcoma
KDM5C Xp11.22-p11.21 MRXJ, SMCX, MRX13, MRXSJ, XE169, MRXSCJ, JARID1C, DXS1272ESomatic-Kidney Cancer
-Pancreatic Cancer
FOXP3 Xp11.23 JM2, AIID, IPEX, PIDX, XPID, DIETER-Breast Cancer
-Colorectal Cancer
-Melanoma
-Prostate Cancer
-Skin Cancer
SSX1 Xp11.23 SSRC, CT5.1Somatic
Translocation
-Synovial Sarcoma
GAGE1 Xp11.23 CT4.1, GAGE-1-Liver Cancer
-Lung Cancer
-Melanoma
-Neuroblastoma
-Ovarian Cancer
-Pancreatic Cancer
-Thyroid Cancer
SSX4 Xp11.23 CT5.4Somatic
Translocation
-Synovial Sarcoma
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
-Leukaemia
-Myeloproliferative Disorders
PIM2 Xp11.23 -Acute Myeloid Leukaemia
-Liver Cancer
HDAC6 Xp11.23 HD6, JM21, CPBHM, PPP1R90-Bladder Cancer
-Breast Cancer
-Stomach Cancer
-Thyroid Cancer
TIMP1 Xp11.3-p11.23 EPA, EPO, HCI, CLGI, TIMP-Breast Cancer
-Cervical Cancer
-Lung Cancer
-Melanoma
-Thyroid Cancer
WAS Xp11.4-p11.21 THC, IMD2, SCNX, THC1, WASP
ARAF Xp11.4-p11.2 PKS2, A-RAF, ARAF1, RAFA1-Thyroid Cancer
BCOR Xp11.4 MAA2, ANOP2, MCOPS2Somatic-Acute Myeloid Leukaemia
-Ewing's Sarcoma
-Soft Tissue Sarcoma
SRPX Xp21.1 DRS, ETX1, SRPX1, HEL-S-83p-Bladder Cancer
-Lung Cancer
-Small Cell Lung Cancer
-Multiple Myeloma
-Prostate Cancer
NR0B1 Xp21.3 AHC, AHX, DSS, GTD, HHG, AHCH, DAX1, DAX-1, NROB1, SRXY2-Adrenocortical Cancer
-Bone Cancer (primary)
-Ewing's Sarcoma
-Lung Cancer
-Wilms Tumour
MAGEB2 Xp21.3 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
ZRSR2 Xp22.1 URP, U2AF1L2, U2AF1RS2, U2AF1-RS2Somatic-Acute Myeloid Leukaemia
-Chronic Myelogenous Leukemia
-Myelodysplastic Syndromes
FANCB Xp22.2 FA2, FAB, FACB, FAAP90, FAAP95Germline-Fanconi Anaemia
TLR7 Xp22.3 TLR7-like-Cervical Cancer
-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Multiple Myeloma
HCCS Xp22.3 MLS, CCHL, MCOPS7-Liver Cancer
CD99 Xp22.32 and Yp11.3 MIC2, HBA71, MIC2X, MIC2Y, MSK5XOverexpression-Bone Cancer (primary)
-Ewing's Sarcoma
-Kidney Cancer
-Soft Tissue Sarcoma
-Vulvar Cancer
-Wilms Tumour
MSN Xq11.1 HEL70Somatic-Breast Cancer
-Lung Cancer
-Melanoma
-Skin Cancer
AMER1 Xq11.2 WTX, OSCS, FAM123BSomatic-Wilms Tumour
AR Xq12 KD, AIS, TFM, DHTR, SBMA, HYSP1, NR3C4, SMAX1, HUMARA-Bladder Cancer
-Breast Cancer
-Prostate Cancer
-Rhabdomyosarcoma
MED12 Xq13 OKS, FGS1, HOPA, OPA1, OHDOX, ARC240, CAGH45, MED12S, TNRC11, TRAP230Somatic-Adrenocortical Cancer
-Prostate Cancer
-Soft Tissue Sarcoma
-Uterine Sarcoma
CXCR3 Xq13 GPR9, MigR, CD182, CD183, Mig-R, CKR-L2, CMKAR3, IP10-R-Cervical Cancer
-Kidney Cancer
-Lung Cancer
-Stomach Cancer
NONO Xq13.1 P54, NMT55, NRB54, P54NRB, PPP1R114Somatic-Bladder Cancer
-Kidney Cancer
FOXO4 Xq13.1 AFX, AFX1, MLLT7Somatic-Prostate Cancer
IL2RG Xq13.1 P64, CIDX, IMD4, CD132, SCIDX, IL-2RG, SCIDX1-Acute Myeloid Leukaemia
-Leukaemia
CITED1 Xq13.1 MSG1-Kidney Cancer
-Melanoma
-Thyroid Cancer
-Wilms Tumour
XIST Xq13.2 SXI1, swd66, DXS1089, DXS399E, LINC00001, NCRNA00001-Breast Cancer
-Germ Cell Tumours
-Ovarian Cancer
-Testicular Cancer
UPRT Xq13.3 UPP, FUR1-Brain Tumours, Childhood
-Pancreatic Cancer
-Prostate Cancer
PGK1 Xq13.3 PGKA, MIG10, HEL-S-68p-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Prostate Cancer
ATP7A Xq21.1 MK, MNK, DSMAX, SMAX3-Breast Cancer
-Colorectal Cancer
-Ovarian Cancer
-Skin Cancer
ATRX Xq21.1 JMS, SHS, XH2, XNP, ATR2, SFM1, RAD54, MRXHF1, RAD54L, ZNF-HXSomatic-Astrocytoma, Childhood
-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Neuroblastoma
-Pancreatic Cancer
-von Hippel-Lindau Disease
COL4A5 Xq22 ATS, ASLN, CA54-Esophageal Cancer
COL4A6 Xq22 DFNX6, DELXq22.3, CXDELq22.3-Esophageal Cancer
NOX1 Xq22 MOX1, NOH1, NOH-1, GP91-2-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Prostate Cancer
-Stomach Cancer
AGTR2 Xq22-q23 AT2, ATGR2, MRX88-Adrenocortical Cancer
-Bladder Cancer
-Breast Cancer
-Pancreatic Cancer
-Prostate Cancer
TCEAL7 Xq22.1 WEX5, MPMGp800C04260Q003-Ovarian Cancer
-Stomach Cancer
PSMD10 Xq22.3 p28, p28(GANK), dJ889N15.2-Bone Cancer (primary)
-Colorectal Cancer
-Liver Cancer
IL13RA1 Xq24 NR4, CD213A1, IL-13Ra-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Hodgkin Lymphoma
-Prostate Cancer
SEPT6 Xq24 SEP2, SEPT2Somatic-Acute Myeloid Leukaemia
-Leukaemia
SH2D1A Xq25 LYP, SAP, XLP, DSHP, EBVS, IMD5, XLPD, MTCP1, XLPD1, SAP/SH2D1A-Hodgkin Lymphoma
-Non-Hodgkin Lymphoma
STAG2 Xq25 SA2, SA-2, SCC3B, bA517O1.1-Acute Myeloid Leukaemia
-Bladder Cancer
-Ewing's Sarcoma
-Transitional Cell Cancer of the Renal Pelvis and Ureter
XIAP Xq25 API3, ILP1, MIHA, XLP2, BIRC4, IAP-3, hIAP3, hIAP-3-Bladder Cancer
-Colorectal Cancer
-Ovarian Cancer
ELF4 Xq26 MEF, ELFRSomatic-Leukaemia
AIFM1 Xq26.1 AIF, CMT2D, CMTX4, COWCK, NADMR, NAMSD, PDCD8, COXPD6-Bladder Cancer
-Liver Cancer
-Prostate Cancer
GPC3 Xq26.1 SGB, DGSX, MXR7, SDYS, SGBS, OCI-5, SGBS1, GTR2-2Germline-Breast Cancer
-Liver Cancer
-Lung Cancer
-Thyroid Cancer
-Wilms Tumour
HPRT1 Xq26.1 HPRT, HGPRT-Bladder Cancer
-Cervical Cancer
-Skin Cancer
-Wilms Tumour
PHF6 Xq26.3 BFLS, BORJ, CENP-31Somatic-Acute Myeloid Leukaemia
TGCT1 Xq27 -Testicular Cancer
MCF2 Xq27 DBL, ARHGEF21-Ewing's Sarcoma
-Neuroblastoma
HPCX Xq27-q28 -Prostate Cancer
LINC00632 Xq27.1 -Bladder Cancer
-Breast Cancer
-Cervical Cancer
-Colorectal Cancer
-Lung Cancer
-Prostate Cancer
-Uterine Sarcoma
FMR1 Xq27.3 POF, FMRP, POF1, FRAXA-Brain Tumours, Childhood
-Ovarian Cancer
MAGEA2 Xq28 CT1.2, MAGE2, MAGEA2A-Melanoma
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
FLNA Xq28 FLN, FMD, MNS, OPD, ABPX, CSBS, CVD1, FLN1, NHBP, OPD1, OPD2, XLVD, XMVD, FLN-A, ABP-280-Acute Myeloid Leukaemia
-Bladder Cancer
-Melanoma
-Prostate Cancer
DKC1 Xq28 DKC, CBF5, DKCX, NAP57, NOLA4, XAP101-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Skin 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
G6PD Xq28 G6PD1-Chronic Myelogenous Leukemia
-Leukaemia
-Myeloproliferative Disorders
-Parathyroid Cancer
-Thyroid Cancer
-Wilms Tumour
L1CAM Xq28 S10, HSAS, MASA, MIC5, SPG1, CAML1, CD171, HSAS1, N-CAML1, NCAM-L1, N-CAM-L1-Breast Cancer
-Melanoma
-Ovarian Cancer
MTCP1 Xq28 p8MTCP1, P13MTCP1Somatic-Ataxia-telangiectasia
-Leukaemia
IRAK1 Xq28 IRAK, pelle-Bladder Cancer
-Pancreatic Cancer
-Waldenstrom's Macroglobulinemia
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
-Soft Tissue Sarcoma
-Stomach Cancer
-Testicular Cancer
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

Structural Abnormalities

Selected list of common recurrent structural abnormalities - Chromosome X:

Abnormality Type Gene(s)
ALK-CTCL Rearrangements in diffuse large B-cell lymphomaTSPYL2 (Xp11.2)ALK (2p23)
der(17)t(X;17) (p11.2;q25) in Alveolar Soft-Part SarcomaTranslocation
t(X;18)(p11.2;q11.2) SS18-SSX1 in Synovial SarcomaTranslocationSSX1 (Xp11.23)SS18 (18q11.2)
t(X;18)(p11.2;q11.2) SS18-SSX2 in Synovial SarcomaTranslocationSSX2 (Xp11.22)SS18 (18q11.2)
t(X;18)(p11.2;q11.2) SS18-SSX4 in Synovial SarcomaTranslocationSSX4 (Xp11.23)SS18 (18q11.2)
der(17)t(X;17)(p11.2;q25) in Alveolar Soft-Part SarcomaTranslocationTFE3 (Xp11.22)ASPSCR1 (17q25.3)
t(X;1)(p11;q21) in Papillary Renal Cell CarcinomaTranslocationTFE3 (Xp11.22)PRCC (1q21.1)

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.


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Cite this page: Cotterill SJ. Chromosome X, Cancer Genetics Web: http://www.cancerindex.org/geneweb/clinkc23.htm Accessed: date

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