CR2Cancer

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF01388 ARID/BRIGHT DNA binding domain
PF02373 JmjC domain
PF02375 jmjN domain
PF00628 PHD-finger
PF08429 PLU-1-like protein
PF02928 C5HC2 zinc finger

Function

Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity).

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification erase	Histone methylation	H3K4me3	H3K4me2, H3K4me1	17320160

> Gene Ontology [ TOP ]
Biological Process	GO:0006482 protein demethylation GO:0008214 protein dealkylation GO:0016570 histone modification GO:0016577 histone demethylation GO:0034720 histone H3-K4 demethylation GO:0048511 rhythmic process GO:0070076 histone lysine demethylation GO:0070988 demethylation
Molecular Function	GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors GO:0032451 demethylase activity GO:0032452 histone demethylase activity GO:0032453 histone demethylase activity (H3-K4 specific) GO:0051213 dioxygenase activity
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-3214842: HDMs demethylate histones

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM1122933	c.3642_3643delGT	p.V1216fs*83	Deletion - Frameshift	Endometrium
COSM1122921	c.4451G>A	p.S1484N	Substitution - Missense	Endometrium
COSM1161914	c.4213G>C	p.E1405Q	Substitution - Missense	Kidney
COSM3364050	c.4372C>T	p.R1458W	Substitution - Missense	Kidney
COSM249345	c.2206delG	p.D736fs*28	Deletion - Frameshift	Kidney
COSM4695006	c.4665G>A	p.P1555P	Substitution - coding silent	Large_intestine
COSM5348737	c.3126_3127insTAGAATGGT	p.G1042_D1043ins*	Insertion - In frame	Liver
COSM4110035	c.4489G>C	p.E1497Q	Substitution - Missense	Stomach
COSM71284	c.2735G>A	p.G912E	Substitution - Missense	Liver
COSM1211782	c.472G>A	p.E158K	Substitution - Missense	Large_intestine
COSM3358416	c.2962delC	p.H988fs*18	Deletion - Frameshift	Kidney
COSM1161914	c.4213G>C	p.E1405Q	Substitution - Missense	Kidney
COSM756947	c.503A>T	p.Q168L	Substitution - Missense	Lung
COSM4490542	c.3657C>T	p.L1219L	Substitution - coding silent	Skin
COSM5623705	c.4003C>A	p.P1335T	Substitution - Missense	Oesophagus
COSM4848764	c.96G>C	p.A32A	Substitution - coding silent	Cervix
COSM4110079	c.631C>T	p.R211W	Substitution - Missense	Stomach
COSM1169643	c.2724_2725insG	p.R909fs*9	Insertion - Frameshift	Kidney
COSM5433309	c.1006G>A	p.D336N	Substitution - Missense	Oesophagus
COSM5723305	c.2341C>T	p.L781L	Substitution - coding silent	Skin
COSM4188109	c.1487G>C	p.G496A	Substitution - Missense	Kidney
COSM30339	c.3385_3386insT	p.D1129fs*75	Insertion - Frameshift	Kidney
COSM4110085	c.476G>A	p.R159H	Substitution - Missense	Stomach
COSM4110037	c.4426G>A	p.E1476K	Substitution - Missense	Stomach
COSM1161911	c.4219delG	p.D1407fs*5	Deletion - Frameshift	Kidney
COSM4993553	c.4192C>T	p.P1398S	Substitution - Missense	Skin
COSM5414599	c.2248C>T	p.R750W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4567649	c.805_806CC>TT	p.P269F	Substitution - Missense	Skin
COSM488460	c.2189G>T	p.C730F	Substitution - Missense	Kidney
COSM5006562	c.?	p.T978I	Substitution - Missense	Kidney
COSM6005252	c.4176T>C	p.P1392P	Substitution - coding silent	Prostate
COSM756948	c.1156G>C	p.E386Q	Substitution - Missense	Lung
COSM3364163	c.357G>C	p.V119V	Substitution - coding silent	Kidney
COSM5778374	c.1867-5C>A	p.?	Unknown	Breast
COSM3844996	c.3227T>C	p.L1076P	Substitution - Missense	Breast
COSM1161958	c.2062-2A>T	p.?	Unknown	Kidney
COSM1122931	c.3691C>A	p.P1231T	Substitution - Missense	Endometrium
COSM4186905	c.845delA	p.K282fs*17	Deletion - Frameshift	Kidney
COSM1122945	c.2806C>T	p.R936C	Substitution - Missense	Endometrium
COSM3914072	c.3447C>T	p.A1149A	Substitution - coding silent	Skin
COSM1625980	c.3160C>A	p.L1054I	Substitution - Missense	Liver
COSM4110058	c.1836C>T	p.A612A	Substitution - coding silent	Stomach
COSM488467	c.643A>T	p.R215*	Substitution - Nonsense	Kidney
COSM5561840	c.56C>A	p.P19H	Substitution - Missense	Prostate
COSM30390	c.781+1_781+11delCGGAAGAAAGG	p.?	Unknown	Kidney
COSM245199	c.1973T>C	p.L658P	Substitution - Missense	Prostate
COSM488465	c.963+2T>C	p.?	Unknown	Kidney
COSM5627967	c.2150C>G	p.S717*	Substitution - Nonsense	Oesophagus
COSM5616338	c.3319G>A	p.D1107N	Substitution - Missense	Lung
COSM3562297	c.692C>T	p.P231L	Substitution - Missense	Skin
COSM249258	c.4270C>T	p.Q1424*	Substitution - Nonsense	Kidney
COSM1122952	c.2138C>T	p.T713M	Substitution - Missense	Endometrium
COSM1122958	c.1737T>C	p.H579H	Substitution - coding silent	Endometrium
COSM1169519	c.227A>G	p.E76G	Substitution - Missense	Kidney
COSM1122925	c.4255A>G	p.I1419V	Substitution - Missense	Endometrium
COSM1717704	c.4231G>A	p.V1411M	Substitution - Missense	Adrenal_gland
COSM71284	c.2735G>A	p.G912E	Substitution - Missense	Liver
COSM1293026	c.3176G>T	p.R1059L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3759523	c.4472A>G	p.E1491G	Substitution - Missense	Large_intestine
COSM4695012	c.3826G>A	p.E1276K	Substitution - Missense	Large_intestine
COSM4589479	c.1764G>A	p.Q588Q	Substitution - coding silent	Bone
COSM5413596	c.2890C>T	p.P964S	Substitution - Missense	Prostate
COSM2967894	c.3765G>A	p.L1255L	Substitution - coding silent	Large_intestine
COSM1734848	c.592C>T	p.R198*	Substitution - Nonsense	Pancreas
COSM3562294	c.714C>T	p.I238I	Substitution - coding silent	Skin
COSM488463	c.1586G>A	p.G529D	Substitution - Missense	Kidney
COSM2967945	c.2386G>A	p.A796T	Substitution - Missense	Large_intestine
COSM4110085	c.476G>A	p.R159H	Substitution - Missense	Skin
COSM2967981	c.1674T>A	p.D558E	Substitution - Missense	Large_intestine
COSM1468501	c.2005_2007delGAG	p.E669delE	Deletion - In frame	Large_intestine
COSM1122954	c.2109T>C	p.D703D	Substitution - coding silent	Endometrium
COSM1122973	c.471C>T	p.Y157Y	Substitution - coding silent	Bone
COSM4110067	c.1134G>A	p.R378R	Substitution - coding silent	Stomach
COSM4110082	c.487C>T	p.P163S	Substitution - Missense	Stomach
COSM4110073	c.957C>T	p.A319A	Substitution - coding silent	Stomach
COSM4168318	c.151-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4424438	c.1327G>C	p.D443H	Substitution - Missense	Oesophagus
COSM1161911	c.4219delG	p.D1407fs*5	Deletion - Frameshift	Kidney
COSM5778277	c.1570A>C	p.N524H	Substitution - Missense	Breast
COSM1625980	c.3160C>A	p.L1054I	Substitution - Missense	Liver
COSM1161914	c.4213G>C	p.E1405Q	Substitution - Missense	Kidney
COSM4110049	c.2416T>C	p.F806L	Substitution - Missense	Stomach
COSM249455	c.4008_4009insA	p.R1337fs*10	Insertion - Frameshift	Kidney
COSM457720	c.483T>G	p.V161V	Substitution - coding silent	Breast
COSM5723305	c.2341C>T	p.L781L	Substitution - coding silent	Skin
COSM1161911	c.4219delG	p.D1407fs*5	Deletion - Frameshift	Kidney
COSM3364149	c.2143T>G	p.F715V	Substitution - Missense	Kidney
COSM1331807	c.1524_1532delCTCAGCCTT	p.S509_F511delSAF	Deletion - In frame	Ovary
COSM1196158	c.938G>A	p.R313Q	Substitution - Missense	Lung
COSM1161911	c.4219delG	p.D1407fs*5	Deletion - Frameshift	Kidney
COSM4951676	c.4250A>G	p.H1417R	Substitution - Missense	Liver
COSM1211777	c.1772G>A	p.G591E	Substitution - Missense	Large_intestine
COSM1682623	c.2758C>T	p.Q920*	Substitution - Nonsense	Breast
COSM3562276	c.4365G>A	p.L1455L	Substitution - coding silent	Skin
COSM1161914	c.4213G>C	p.E1405Q	Substitution - Missense	Kidney
COSM4110076	c.861G>A	p.S287S	Substitution - coding silent	Stomach
COSM756952	c.1937A>T	p.E646V	Substitution - Missense	Lung
COSM1662407	c.1396G>T	p.E466*	Substitution - Nonsense	Kidney
COSM3562299	c.200C>T	p.P67L	Substitution - Missense	Skin
COSM77943	c.536G>A	p.R179H	Substitution - Missense	Breast
COSM5028928	c.2090T>C	p.F697S	Substitution - Missense	Breast
COSM4969952	c.2332C>T	p.R778*	Substitution - Nonsense	Central_nervous_system
COSM5366729	c.589delC	p.L197fs*37	Deletion - Frameshift	Large_intestine
COSM4154970	c.2755C>T	p.Q919*	Substitution - Nonsense	Kidney
COSM5032212	c.?	p.P380fs*50	Frameshift	Lung
COSM5006564	c.?	p.I1511T	Substitution - Missense	Kidney
COSM5005311	c.3401G>A	p.G1134E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4110088	c.407G>A	p.R136Q	Substitution - Missense	Stomach
COSM1732197	c.1104C>A	p.C368*	Substitution - Nonsense	Kidney
COSM5734875	c.3940C>T	p.R1314W	Substitution - Missense	Pancreas
COSM30387	c.807delC	p.T270fs*2	Deletion - Frameshift	Kidney
COSM1756615	c.1539G>T	p.W513C	Substitution - Missense	Pancreas
COSM4609845	c.2438_2439delAG	p.Q813fs*8	Deletion - Frameshift	Adrenal_gland
COSM1161911	c.4219delG	p.D1407fs*5	Deletion - Frameshift	Kidney
COSM1122973	c.471C>T	p.Y157Y	Substitution - coding silent	Endometrium
COSM5885053	c.4652G>A	p.C1551Y	Substitution - Missense	Large_intestine
COSM1122969	c.999G>A	p.G333G	Substitution - coding silent	Endometrium
COSM3364143	c.3454G>A	p.E1152K	Substitution - Missense	Kidney
COSM77943	c.536G>A	p.R179H	Substitution - Missense	Salivary_gland
COSM3358413	c.3391delG	p.E1131fs*16	Deletion - Frameshift	Kidney
COSM219390	c.2150C>T	p.S717L	Substitution - Missense	Breast
COSM5990383	c.197C>T	p.T66I	Substitution - Missense	Liver
COSM4169711	c.?	p.V833fs*21	Unknown	Adrenal_gland
COSM4777523	c.3997T>G	p.S1333A	Substitution - Missense	Breast
COSM30386	c.661G>T	p.E221*	Substitution - Nonsense	Kidney
COSM116591	c.67G>C	p.E23Q	Substitution - Missense	Ovary
COSM5732055	c.4423G>C	p.E1475Q	Substitution - Missense	Pancreas
COSM249564	c.179_180delTG	p.V60fs*14	Deletion - Frameshift	Kidney
COSM4188544	c.2091delC	p.F697fs*67	Deletion - Frameshift	Kidney
COSM5881445	c.?	p.C1247*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM488461	c.1775A>T	p.E592V	Substitution - Missense	Kidney
COSM3358425	c.365_371delAAGGTGG	p.E122fs*14	Deletion - Frameshift	Kidney
COSM5835981	c.3850_3851delAG	p.R1284fs*15	Deletion - Frameshift	Breast
COSM5803018	c.4587G>A	p.A1529A	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM30387	c.807delC	p.T270fs*2	Deletion - Frameshift	Kidney
COSM3759526	c.564G>A	p.K188K	Substitution - coding silent	Large_intestine
COSM1491071	c.3227_3228insACC	p.L1076_T1077insP	Insertion - In frame	Breast
COSM1169520	c.1880G>C	p.R627P	Substitution - Missense	Kidney
COSM249275	c.1553A>G	p.H518R	Substitution - Missense	Kidney
COSM3364154	c.1938G>T	p.E646D	Substitution - Missense	Kidney
COSM4186908	c.703_704delAA	p.K235fs*27	Deletion - Frameshift	Kidney
COSM191436	c.3497G>A	p.R1166H	Substitution - Missense	Central_nervous_system
COSM4110055	c.1901G>A	p.R634H	Substitution - Missense	Stomach
COSM1122956	c.1771G>A	p.G591R	Substitution - Missense	Endometrium
COSM4154973	c.1787C>G	p.T596S	Substitution - Missense	Kidney
COSM5985487	c.1711A>G	p.M571V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM123893	c.1006G>C	p.D336H	Substitution - Missense	Upper_aerodigestive_tract
COSM249258	c.4270C>T	p.Q1424*	Substitution - Nonsense	Kidney
COSM5990383	c.197C>T	p.T66I	Substitution - Missense	Liver
COSM404762	c.1546G>C	p.E516Q	Substitution - Missense	Lung
COSM1734845	c.1650G>T	p.K550N	Substitution - Missense	Pancreas
COSM3800667	c.4351C>A	p.R1451R	Substitution - coding silent	Urinary_tract
COSM30389	c.3148delG	p.D1050fs*5	Deletion - Frameshift	Kidney
COSM219390	c.2150C>T	p.S717L	Substitution - Missense	Breast
COSM5813719	c.738G>T	p.M246I	Substitution - Missense	Liver
COSM3364146	c.2188T>C	p.C730R	Substitution - Missense	Kidney
COSM1169518	c.2273C>T	p.A758V	Substitution - Missense	Kidney
COSM3562291	c.1048C>T	p.H350Y	Substitution - Missense	Skin
COSM4169837	c.2042G>T	p.R681L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5611568	c.1920C>T	p.C640C	Substitution - coding silent	Adrenal_gland
COSM5723305	c.2341C>T	p.L781L	Substitution - coding silent	Skin
COSM3358422	c.1410_1413delTACC	p.T471fs*5	Deletion - Frameshift	Kidney
COSM488459	c.2198A>C	p.H733P	Substitution - Missense	Kidney
COSM4110040	c.3120+2T>C	p.?	Unknown	Stomach
COSM613037	c.2023C>T	p.Q675*	Substitution - Nonsense	Kidney
COSM1468495	c.2949G>A	p.W983*	Substitution - Nonsense	Large_intestine
COSM1756615	c.1539G>T	p.W513C	Substitution - Missense	Urinary_tract
COSM5412836	c.1359C>T	p.F453F	Substitution - coding silent	Skin
COSM1122977	c.248T>C	p.L83P	Substitution - Missense	Endometrium
COSM457719	c.1377A>C	p.K459N	Substitution - Missense	Breast
COSM5437780	c.3814C>G	p.L1272V	Substitution - Missense	Oesophagus
COSM5990383	c.197C>T	p.T66I	Substitution - Missense	Liver
COSM457718	c.2941G>A	p.E981K	Substitution - Missense	Breast
COSM3844993	c.3319G>C	p.D1107H	Substitution - Missense	Breast
COSM4110064	c.1203C>T	p.A401A	Substitution - coding silent	Stomach
COSM3358430	c.80delC	p.P27fs*46	Deletion - Frameshift	Kidney
COSM1122981	c.64G>A	p.A22T	Substitution - Missense	Endometrium
COSM5006565	c.?_?del?	p.?fs*?	Deletion - Frameshift	Kidney
COSM1161914	c.4213G>C	p.E1405Q	Substitution - Missense	Kidney
COSM3708667	c.3868G>T	p.G1290C	Substitution - Missense	Liver
COSM1161958	c.2062-2A>T	p.?	Unknown	Kidney
COSM1242419	c.4247A>G	p.N1416S	Substitution - Missense	Oesophagus
COSM5990383	c.197C>T	p.T66I	Substitution - Missense	Liver
COSM3725462	c.4039-4G>A	p.?	Unknown	Lung
COSM4186798	c.1614delC	p.S539fs*10	Deletion - Frameshift	Kidney
COSM4695015	c.3825C>T	p.G1275G	Substitution - coding silent	Large_intestine
COSM1211789	c.1133G>T	p.R378L	Substitution - Missense	Large_intestine
COSM3562285	c.2293G>A	p.V765I	Substitution - Missense	Skin
COSM5450655	c.839A>T	p.D280V	Substitution - Missense	Large_intestine
COSM2968010	c.819G>T	p.V273V	Substitution - coding silent	Large_intestine
COSM4110052	c.2262T>C	p.D754D	Substitution - coding silent	Stomach
COSM140896	c.4468G>T	p.E1490*	Substitution - Nonsense	Skin
COSM1211793	c.1853G>A	p.C618Y	Substitution - Missense	Large_intestine
COSM4154979	c.958C>T	p.Q320*	Substitution - Nonsense	Kidney
COSM5765615	c.3374T>C	p.L1125S	Substitution - Missense	Large_intestine
COSM5485345	c.2783C>T	p.A928V	Substitution - Missense	Large_intestine
COSM1468510	c.1719C>A	p.P573P	Substitution - coding silent	Large_intestine
COSM1665532	c.2412delG	p.R805fs*11	Deletion - Frameshift	Kidney
COSM1732113	c.4649C>T	p.P1550L	Substitution - Missense	Kidney
COSM1468516	c.1395A>T	p.E465D	Substitution - Missense	Large_intestine
COSM321153	c.3460G>T	p.E1154*	Substitution - Nonsense	Lung
COSM191438	c.2041C>T	p.R681*	Substitution - Nonsense	Kidney
COSM1122937	c.3546C>A	p.S1182S	Substitution - coding silent	Endometrium
COSM4110061	c.1218T>C	p.A406A	Substitution - coding silent	Stomach
COSM4965661	c.2509G>A	p.E837K	Substitution - Missense	Pancreas
COSM30391	c.1935_1936GG>CT	p.E645_E646>D*	Complex - compound substitution	Kidney
COSM1682620	c.2761C>G	p.L921V	Substitution - Missense	Breast
COSM1732203	c.351+1G>A	p.?	Unknown	Kidney
COSM4695024	c.2113C>T	p.R705C	Substitution - Missense	Large_intestine
COSM1161914	c.4213G>C	p.E1405Q	Substitution - Missense	Kidney
COSM3562282	c.3652C>T	p.R1218C	Substitution - Missense	Skin
COSM4695012	c.3826G>A	p.E1276K	Substitution - Missense	Oesophagus
COSM75105	c.1928C>T	p.S643F	Substitution - Missense	Ovary
COSM249215	c.142C>T	p.P48S	Substitution - Missense	Kidney
COSM5723305	c.2341C>T	p.L781L	Substitution - coding silent	Skin
COSM488457	c.2437C>T	p.Q813*	Substitution - Nonsense	Kidney
COSM4489883	c.3545C>T	p.S1182F	Substitution - Missense	Skin
COSM4187791	c.1747-1G>C	p.?	Unknown	Kidney
COSM2967911	c.3436G>A	p.V1146M	Substitution - Missense	Large_intestine
COSM4882640	c.4548C>A	p.S1516R	Substitution - Missense	Upper_aerodigestive_tract
COSM4853020	c.93C>T	p.I31I	Substitution - coding silent	Cervix
COSM69188	c.1688_1689insT	p.L564fs*58	Insertion - Frameshift	Ovary
COSM1732148	c.1864T>C	p.W622R	Substitution - Missense	Large_intestine
COSM5567721	c.860C>T	p.S287L	Substitution - Missense	Prostate
COSM1169564	c.1894C>T	p.H632Y	Substitution - Missense	Kidney
COSM312108	c.1074G>C	p.L358L	Substitution - coding silent	Lung
COSM4811260	c.331G>A	p.D111N	Substitution - Missense	Urinary_tract
COSM5787662	c.3936C>A	p.R1312R	Substitution - coding silent	Breast
COSM1122939	c.3316G>A	p.A1106T	Substitution - Missense	Endometrium
COSM1161958	c.2062-2A>T	p.?	Unknown	Kidney
COSM3844990	c.3881A>T	p.Q1294L	Substitution - Missense	Breast
COSM488462	c.1606G>T	p.G536W	Substitution - Missense	Kidney
COSM1122979	c.230C>T	p.A77V	Substitution - Missense	Endometrium
COSM488457	c.2437C>T	p.Q813*	Substitution - Nonsense	Large_intestine
COSM5652246	c.2585A>T	p.N862I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1161911	c.4219delG	p.D1407fs*5	Deletion - Frameshift	Kidney
COSM5414599	c.2248C>T	p.R750W	Substitution - Missense	Skin
COSM3364050	c.4372C>T	p.R1458W	Substitution - Missense	Skin
COSM6019338	c.?	p.?	Unknown	Ovary
COSM3390701	c.1622C>T	p.A541V	Substitution - Missense	Pancreas
COSM249273	c.388A>T	p.K130*	Substitution - Nonsense	Kidney
COSM4974971	c.472G>T	p.E158*	Substitution - Nonsense	Oesophagus
COSM4911234	c.509G>T	p.G170V	Substitution - Missense	Liver
COSM4154976	c.1636G>A	p.E546K	Substitution - Missense	Kidney
COSM2967981	c.1674T>A	p.D558E	Substitution - Missense	Large_intestine
COSM3364157	c.1375A>T	p.K459*	Substitution - Nonsense	Kidney
COSM28454	c.1933G>T	p.E645*	Substitution - Nonsense	Kidney
COSM1169514	c.65C>T	p.A22V	Substitution - Missense	Kidney
COSM4695009	c.3934C>T	p.R1312C	Substitution - Missense	Large_intestine
COSM5006563	c.?	p.V783E	Substitution - Missense	Kidney
COSM4187632	c.1688T>C	p.L563P	Substitution - Missense	Kidney
COSM3358410	c.4242_4252del11	p.D1414fs*54	Deletion - Frameshift	Kidney
COSM4650891	c.4375C>T	p.R1459W	Substitution - Missense	Large_intestine
COSM5621089	c.3136C>T	p.P1046S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4695021	c.2167G>A	p.D723N	Substitution - Missense	Large_intestine
COSM1122971	c.690T>C	p.N230N	Substitution - coding silent	Endometrium
COSM71283	c.4286C>T	p.P1429L	Substitution - Missense	Ovary
COSM302468	c.2764delC	p.Q922fs*13	Deletion - Frameshift	Central_nervous_system
COSM4598780	c.1596G>T	p.K532N	Substitution - Missense	Upper_aerodigestive_tract
COSM4695027	c.634C>T	p.R212W	Substitution - Missense	Large_intestine
COSM191438	c.2041C>T	p.R681*	Substitution - Nonsense	Kidney
COSM1169516	c.464C>T	p.S155F	Substitution - Missense	Kidney
COSM2967957	c.1988C>T	p.A663V	Substitution - Missense	Breast
COSM3562274	c.4610C>T	p.S1537L	Substitution - Missense	Skin
COSM77943	c.536G>A	p.R179H	Substitution - Missense	Ovary
COSM380717	c.3820G>A	p.E1274K	Substitution - Missense	Lung
COSM5020847	c.2280G>A	p.L760L	Substitution - coding silent	Soft_tissue
COSM5457495	c.2409G>A	p.E803E	Substitution - coding silent	Large_intestine
COSM1122975	c.276C>A	p.F92L	Substitution - Missense	Endometrium
COSM191435	c.3563G>C	p.C1188S	Substitution - Missense	Large_intestine
COSM5443393	c.3964G>C	p.E1322Q	Substitution - Missense	Oesophagus
COSM4816004	c.345C>T	p.L115L	Substitution - coding silent	Breast
COSM5985487	c.1711A>G	p.M571V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5006563	c.?	p.V783E	Substitution - Missense	Kidney
COSM1122929	c.3869_3874delGCCGCG	p.G1290_R1291delGR	Deletion - In frame	Endometrium
COSM1122941	c.3158G>A	p.G1053D	Substitution - Missense	Endometrium
COSM249215	c.142C>T	p.P48S	Substitution - Missense	Kidney
COSM488464	c.1536C>G	p.C512W	Substitution - Missense	Kidney
COSM30388	c.352-4_367del20	p.?	Unknown	Kidney
COSM5006565	c.?_?del?	p.?fs*?	Deletion - Frameshift	Kidney
COSM1169563	c.2269C>T	p.P757S	Substitution - Missense	Kidney
COSM4755392	c.773G>A	p.R258Q	Substitution - Missense	Stomach
COSM1122949	c.2296C>T	p.R766W	Substitution - Missense	Endometrium
COSM756948	c.1156G>C	p.E386Q	Substitution - Missense	Endometrium
COSM1625983	c.1861G>T	p.D621Y	Substitution - Missense	Liver
COSM5990383	c.197C>T	p.T66I	Substitution - Missense	Liver
COSM4629041	c.3410C>T	p.A1137V	Substitution - Missense	Large_intestine
COSM1169517	c.3187G>A	p.V1063M	Substitution - Missense	Kidney
COSM1122964	c.1493A>G	p.K498R	Substitution - Missense	Endometrium
COSM1122923	c.4304G>A	p.R1435H	Substitution - Missense	Endometrium
COSM5064756	c.1508A>G	p.Y503C	Substitution - Missense	Stomach
COSM4110070	c.1122G>A	p.A374A	Substitution - coding silent	Stomach
COSM3765021	c.632G>A	p.R211Q	Substitution - Missense	Central_nervous_system
COSM5954167	c.294C>T	p.S98S	Substitution - coding silent	Upper_aerodigestive_tract
COSM5711703	c.824A>G	p.E275G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1578843	c.1726C>G	p.L576V	Substitution - Missense	Meninges
COSM5621092	c.760G>A	p.D254N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1161958	c.2062-2A>T	p.?	Unknown	Kidney
COSM3708667	c.3868G>T	p.G1290C	Substitution - Missense	Liver
COSM3390706	c.202C>T	p.R68*	Substitution - Nonsense	Pancreas
COSM4110090	c.242T>C	p.V81A	Substitution - Missense	Stomach
COSM756946	c.202C>A	p.R68R	Substitution - coding silent	Lung
COSM1211786	c.1810G>A	p.G604S	Substitution - Missense	Kidney
COSM1211786	c.1810G>A	p.G604S	Substitution - Missense	Large_intestine
COSM4695018	c.2178C>T	p.D726D	Substitution - coding silent	Large_intestine
COSM1732148	c.1864T>C	p.W622R	Substitution - Missense	Kidney
COSM1169644	c.704_705insA	p.L236fs*27	Insertion - Frameshift	Kidney
COSM488456	c.3329C>G	p.S1110*	Substitution - Nonsense	Kidney
COSM5700093	c.229-1G>A	p.?	Unknown	Soft_tissue
COSM5711700	c.4441A>G	p.R1481G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3357449	c.2721G>A	p.R907R	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM3424853	c.259G>A	p.D87N	Substitution - Missense	Large_intestine
COSM1665535	c.1984delC	p.L662fs*102	Deletion - Frameshift	Kidney
COSM1169513	c.93delC	p.I31fs*42	Deletion - Frameshift	Kidney
COSM356556	c.1494G>T	p.K498N	Substitution - Missense	Lung
COSM3719987	c.1678C>A	p.Q560K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4993550	c.4193C>T	p.P1398L	Substitution - Missense	Skin
COSM1122943	c.3076C>T	p.L1026F	Substitution - Missense	Endometrium
COSM4927424	c.2267T>A	p.L756H	Substitution - Missense	Liver
COSM5729719	c.147C>T	p.P49P	Substitution - coding silent	Skin
COSM1732045	c.2962C>T	p.H988Y	Substitution - Missense	Kidney
COSM1122947	c.2516G>T	p.G839V	Substitution - Missense	Endometrium
COSM1468492	c.3177G>T	p.R1059R	Substitution - coding silent	Large_intestine
COSM5938513	c.4190C>T	p.A1397V	Substitution - Missense	Skin
COSM1122935	c.3640G>A	p.V1214M	Substitution - Missense	Endometrium
COSM370636	c.3635G>T	p.R1212L	Substitution - Missense	Lung
COSM4547241	c.4187G>C	p.R1396P	Substitution - Missense	Skin
COSM3844987	c.3883G>C	p.A1295P	Substitution - Missense	Breast
COSM4755389	c.1646T>G	p.M549R	Substitution - Missense	Stomach
COSM1625983	c.1861G>T	p.D621Y	Substitution - Missense	Liver
COSM27612	c.3664T>C	p.S1222P	Substitution - Missense	Kidney
COSM5064753	c.3079G>A	p.A1027T	Substitution - Missense	Stomach
COSM3844999	c.3000C>T	p.A1000A	Substitution - coding silent	Breast
COSM71284	c.2735G>A	p.G912E	Substitution - Missense	Ovary
COSM5485345	c.2783C>T	p.A928V	Substitution - Missense	Biliary_tract
COSM5412833	c.3548C>T	p.S1183F	Substitution - Missense	Skin
COSM756951	c.1840G>T	p.A614S	Substitution - Missense	Lung
COSM1169520	c.1880G>C	p.R627P	Substitution - Missense	Kidney
COSM756953	c.2266C>A	p.L756I	Substitution - Missense	Lung
COSM457717	c.2955G>A	p.E985E	Substitution - coding silent	Breast
COSM3765021	c.632G>A	p.R211Q	Substitution - Missense	Skin
COSM756953	c.2266C>A	p.L756I	Substitution - Missense	Endometrium
COSM3562279	c.3792C>T	p.A1264A	Substitution - coding silent	Skin
COSM5960522	c.3341A>G	p.K1114R	Substitution - Missense	Thyroid
COSM380717	c.3820G>A	p.E1274K	Substitution - Missense	Breast
COSM297688	c.2662_2663insCC	p.R888fs*48	Insertion - Frameshift	Large_intestine
COSM4185990	c.2347G>T	p.V783L	Substitution - Missense	Kidney
COSM1196158	c.938G>A	p.R313Q	Substitution - Missense	Skin
COSM1178391	c.3534G>T	p.S1178S	Substitution - coding silent	Prostate
COSM3562288	c.1360C>T	p.P454S	Substitution - Missense	Skin
COSM4951676	c.4250A>G	p.H1417R	Substitution - Missense	Liver
COSM3358419	c.1915_1916insA	p.Y639fs*1	Insertion - Frameshift	Kidney
COSM1756618	c.1538G>T	p.W513L	Substitution - Missense	Urinary_tract
COSM4943430	c.2733G>C	p.L911L	Substitution - coding silent	Liver
COSM5021054	c.2292G>A	p.K764K	Substitution - coding silent	Soft_tissue
COSM488466	c.865A>T	p.K289*	Substitution - Nonsense	Kidney
COSM3390704	c.1601G>T	p.W534L	Substitution - Missense	Pancreas
COSM3358427	c.167_168delTT	p.F56fs*18	Deletion - Frameshift	Kidney
COSM488458	c.2392G>T	p.E798*	Substitution - Nonsense	Kidney
COSM128304	c.2559C>T	p.L853L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1122945	c.2806C>T	p.R936C	Substitution - Missense	Pancreas
COSM370969	c.272A>T	p.K91I	Substitution - Missense	Lung
COSM4969952	c.2332C>T	p.R778*	Substitution - Nonsense	Pancreas
COSM4824711	c.3847G>A	p.E1283K	Substitution - Missense	Cervix
COSM1122962	c.1497G>A	p.V499V	Substitution - coding silent	Endometrium
COSM4110043	c.2848A>G	p.M950V	Substitution - Missense	Stomach
COSM4633092	c.3921G>A	p.R1307R	Substitution - coding silent	Large_intestine
COSM1122960	c.1720A>G	p.N574D	Substitution - Missense	Endometrium
COSM1161914	c.4213G>C	p.E1405Q	Substitution - Missense	Kidney
COSM5006565	c.?_?del?	p.?fs*?	Deletion - Frameshift	Kidney
COSM3364160	c.850G>T	p.E284*	Substitution - Nonsense	Kidney
COSM249438	c.840_841insGATG	p.V281fs*10	Insertion - Frameshift	Kidney
COSM3406468	c.1879C>T	p.R627C	Substitution - Missense	Central_nervous_system
COSM1665538	c.693_696delAGAG	p.E232fs*1	Deletion - Frameshift	Kidney
COSM312108	c.1074G>C	p.L358L	Substitution - coding silent	Soft_tissue
COSM1122927	c.3874G>A	p.A1292T	Substitution - Missense	Endometrium
COSM4189245	c.426_427insA	p.Y143fs*23	Insertion - Frameshift	Kidney
COSM4566752	c.4635_4636CC>TT	p.R1546W	Substitution - Missense	Skin
COSM3358407	c.4280_4283delAGCC	p.Q1427fs*50	Deletion - Frameshift	Kidney
COSM3992532	c.856A>G	p.T286A	Substitution - Missense	Kidney
COSM4110046	c.2475C>T	p.C825C	Substitution - coding silent	Stomach
COSM4827149	c.2067C>T	p.I689I	Substitution - coding silent	Cervix
COSM4169850	c.?	p.L1305fs*5	Unknown	Adrenal_gland
COSM1161911	c.4219delG	p.D1407fs*5	Deletion - Frameshift	Kidney
COSM2967897	c.3668C>T	p.P1223L	Substitution - Missense	Large_intestine
COSM3406465	c.3493C>T	p.R1165C	Substitution - Missense	Central_nervous_system
COSM1122967	c.1104C>T	p.C368C	Substitution - coding silent	Endometrium

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
27282397	Mutation	Pineoblastoma	Genetic analysis of a pineoblastoma case identified somatic mutations of DICER1, ARID1A, and KDM5C genes.
27626165	Mutation	Thyroid Gland Follicular Carcinoma	In addition, we found eleven potential cancer-related genes with mutations (EZH1, SPOP, NF1, TCF12, IGF2BP3, KMT2C, CNOT1, BRIP1, KDM5C, STAG2 and MAP4K3) that have not been reported in thyroid follicular tumors.
27282397	Mutation	Pineoblastoma	Genetic analysis of a pineoblastoma case identified somatic mutations of DICER1, ARID1A, and KDM5C genes.
25873528	Mutation	Clear Cell Renal Cell Carcinoma	JARID1C and UTX, two histone H3 demethylases, were also found to harbor mutations in ccRCC, albeit at lower rates
24029645	Mutation	Clear Cell Renal Cell Carcinoma	Mutation frequencies among clear cell RCCs were as follows: VHL, 53.2% (124 of 233); PBRM1, 28.8% (67 of 233); SETD2, 7.3% (17 of 233); KDM5C, 6.9% (16 of 233); and BAP1, 6.0% (14 of 233).
23644518	Mutation	Renal Cell Carcinomas	We further analyzed the exomes of 15 renal cell carcinomas and confirmed MLH1 haploinsufficiency. We observed a much higher rate of indel mutations in the affected cases and identified recurrent truncating indels in several cancer genes such as VHL, PBRM1, and JARID1C.
21725364	Mutation	Clear Cell Renal Cell Carcinoma	Recently, a large-scale genomic sequencing study of ccRCC tumors revealed that enzymes that regulate histone H3 lysine 4 trimethylation (H3K4Me3), such as JARID1C/KDM5C/SMCX and MLL2, were mutated in ccRCC tumors, suggesting that H3K4Me3 might have an important role in regulating gene expression and tumorigenesis.
20054297	mutation (loss of function)	Clear Cell Renal Cell Carcinoma	To determine further the genetics of ccRCC, we have sequenced 101 cases through 3,544 protein-coding genes. Here we report the identification of inactivating mutations in two genes encoding enzymes involved in histone modification-SETD2, a histone H3 lysine 36 methyltransferase, and JARID1C (also known as KDM5C), a histone H3 lysine 4 demethylase-as well as mutations in the histone H3 lysine 27 demethylase, UTX (KMD6A), that we recently reported.

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
P41229	301	S	Phosphoserine	-	No	None detected
P41229	317	S	Phosphoserine	-	No	None detected
P41229	893	S	Phosphoserine	-	No	None detected
P41229	897	S	Phosphoserine	-	No	None detected
P41229	1359	S	Phosphoserine	-	No	None detected

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.762	7.052	0.181	0.224	NS
BRCA	Breast invasive carcinoma	112	1100	6.905	7.241	0.411	1.3e-21	NS
CESC	Cervical and endocervical cancers	3	306	7.204	7.383	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.895	7.209	0.282	0.00516	NS
ESCA	Esophageal carcinoma	11	185	7.087	7.07	-0.037	0.865	NS
GBM	Glioblastoma multiforme	5	166	7.245	6.636	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	7.042	6.855	-0.072	0.478	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.37	6.659	0.278	2.72e-05	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.589	6.66	0.094	0.323	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.573	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	7.035	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	5.444	5.741	0.292	0.000459	NS
LUAD	Lung adenocarcinoma	59	517	6.712	7.043	0.359	4.21e-06	NS
LUSC	Lung squamous cell carcinoma	51	501	6.528	7.066	0.517	1.4e-10	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	7.17	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.839	6.817	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	7.024	7.028	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.642	6.83	0.197	0.000255	NS
READ	Rectum adenocarcinoma	10	167	6.903	7.237	0.514	0.00809	NS
SARC	Sarcoma	2	263	6.23	7.132	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.364	7.16	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.86	6.957	0.18	0.0918	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	7.522	NA	NA	NA
THCA	Thyroid carcinoma	59	509	7.029	7.126	0.152	0.00309	NS
THYM	Thymoma	2	120	8.005	7.304	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	7.214	7.515	0.305	2.6e-05	NS

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	25.4
Adrenal gland	33.7
Appendix	38.8
Bone marrow	22.4
Breast	23.4
Cerebral cortex	36.5
Cervix, uterine	38
Colon	20.2
Duodenum	26.9
Endometrium	46.7
Epididymis	17.4
Esophagus	24.8
Fallopian tube	44.5
Gallbladder	27
Heart muscle	11.7
Kidney	16.2
Liver	7.2
Lung	30
Lymph node	38.8
Ovary	37.8
Pancreas	5.5
Parathyroid gland	65.5
Placenta	33.5
Prostate	26.6
Rectum	17
Salivary gland	13.5
Seminal vesicle	25.5
Skeletal muscle	12.2
Skin	39.8
Small intestine	22.5
Smooth muscle	39
Spleen	39.6
Stomach	20.1
Testis	23.7
Thyroid gland	37.1
Tonsil	25.4
Urinary bladder	19.1

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
26858085	Overexpression	Gastric Carcinoma	In present study, we found that KDM5C was overexpressed in gastric cancer cell lines and gastric cancer tissues but not in normal gastric tissues.
26858085	Overexpression	Gastric Carcinoma	In present study, we found that KDM5C was overexpressed in gastric cancer cell lines and gastric cancer tissues but not in normal gastric tissues.
26503415	Overexpression	Hepatocellular Carcinoma	In this study, we report that KDM5C is abundantly expressed in invasive human HCC cells.
26182878	Overexpression	Breast Carcinoma	In clinical breast cancer samples, we found that JARID1C expression was significantly upregulated in cancer lesions compared with paired normal breast tissues and its expression level is positively correlated with metastasis.

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.385	1.04e-15	20	64.4	15.6	Neutral
BRCA	Breast invasive carcinoma	1075	0.305	1.37e-24	16.7	66.1	17.2	Neutral
CESC	Cervical and endocervical cancers	292	0.281	1.09e-06	24.7	63	12.3	Neutral
COAD	Colon adenocarcinoma	449	0.241	2.27e-07	14.7	69	16.3	Neutral
ESCA	Esophageal carcinoma	183	0.401	1.88e-08	34.4	50.8	14.8	Loss
GBM	Glioblastoma multiforme	147	-0.025	0.762	23.1	73.5	3.4	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.338	3.57e-15	26.7	63.6	9.7	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.231	9.11e-08	9.5	85.1	5.3	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	-0.251	1.6e-05	11.1	55.9	33	Neutral
LAML	Acute Myeloid Leukemia	166	0.22	0.00442	3	95.8	1.2	Neutral
LGG	Brain Lower Grade Glioma	513	0.079	0.0743	18.1	76.2	5.7	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.134	0.0105	26.9	61.8	11.3	Neutral
LUAD	Lung adenocarcinoma	512	0.356	1.05e-16	18.9	69.5	11.5	Neutral
LUSC	Lung squamous cell carcinoma	498	0.336	1.24e-14	26.3	59.2	14.5	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.475	2.67e-18	42.3	29.7	28	Loss
PAAD	Pancreatic adenocarcinoma	177	0.36	8.46e-07	16.4	79.7	4	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.362	2.18e-06	27.8	66.7	5.6	Neutral
PRAD	Prostate adenocarcinoma	491	-0.033	0.467	6.5	90.6	2.9	Neutral
READ	Rectum adenocarcinoma	164	0.349	4.5e-06	18.3	64.6	17.1	Neutral
SARC	Sarcoma	255	0.41	9.04e-12	18.4	43.5	38	Gain
SKCM	Skin Cutaneous Melanoma	367	0.116	0.0268	22.6	61.9	15.5	Neutral
STAD	Stomach adenocarcinoma	413	0.264	5.35e-08	14.8	72.9	12.3	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.266	0.00102	19.3	63.3	17.3	Neutral
THCA	Thyroid carcinoma	497	0.034	0.448	1	97.6	1.4	Neutral
THYM	Thymoma	119	0.152	0.0987	5.9	92.4	1.7	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.285	1.64e-11	11.5	72.6	15.8	Neutral

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.437	0	17	408	0.001	0.75	NS/NA
BRCA	Breast invasive carcinoma	-0.247	1.91e-13	83	785	-0.134	2.76e-80	NS/NA
CESC	Cervical and endocervical cancers	-0.314	1.95e-08	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.514	0	19	297	-0.002	0.406	NS/NA
ESCA	Esophageal carcinoma	-0.583	0	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.537	5.62e-06	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.498	0	20	522	0.001	0.2	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.504	0	24	319	0.001	0.000112	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.525	0	23	275	0.003	0.0227	NS/NA
LAML	Acute Myeloid Leukemia	-0.598	0	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.48	0	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.535	0	41	373	0.001	0.00115	NS/NA
LUAD	Lung adenocarcinoma	-0.291	1.12e-10	21	456	-0.004	0.379	NS/NA
LUSC	Lung squamous cell carcinoma	-0.279	3.83e-08	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.783	0.0172	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.554	0	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.619	0	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.355	2.25e-17	35	498	-0.192	1.75e-07	NS/NA
READ	Rectum adenocarcinoma	-0.617	0	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.631	0	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.493	0	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.439	0	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.328	3.27e-05	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.501	0	50	509	-0.001	0.921	NS/NA
THYM	Thymoma	-0.642	0	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.201	1.33e-05	34	431	-0.001	0.0694	NS/NA

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA) [ TOP ]
There is no antibody staining data.

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.918	NS	24476821
BRCA	Breast invasive carcinoma	521	3.47e-08	Significant	23000897
COAD	Colon adenocarcinoma	149	0.00594	Significant	22810696
GBM	Glioblastoma multiforme	157	0.00111	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.0888	NS	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.118	NS	26536169
LGG	Brain Lower Grade Glioma	513	3.12e-07	Significant	26824661
LUAD	Lung adenocarcinoma	230	1.5e-05	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.00537	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.0167	Significant	21720365
PRAD	Prostate adenocarcinoma	333	2.01e-06	Significant	26544944
READ	Rectum adenocarcinoma	67	0.0956	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.352	NS	26091043
STAD	Stomach adenocarcinoma	277	0.128	NS	25079317
THCA	Thyroid carcinoma	391	0.618	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.163	NS	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.976	0.905	NS
BRCA	Breast invasive carcinoma	1079	1.614	0.0344	Shorter
CESC	Cervical and endocervical cancers	291	1.214	0.544	NS
COAD	Colon adenocarcinoma	439	1.272	0.429	NS
ESCA	Esophageal carcinoma	184	1.211	0.558	NS
GBM	Glioblastoma multiforme	158	0.987	0.957	NS
HNSC	Head and Neck squamous cell carcinoma	518	1.01	0.959	NS
KIRC	Kidney renal clear cell carcinoma	531	1.547	0.0389	Shorter
KIRP	Kidney renal papillary cell carcinoma	287	1.703	0.193	NS
LAML	Acute Myeloid Leukemia	149	0.971	0.926	NS
LGG	Brain Lower Grade Glioma	511	0.876	0.601	NS
LIHC	Liver hepatocellular carcinoma	365	1.564	0.0663	NS
LUAD	Lung adenocarcinoma	502	0.995	0.978	NS
LUSC	Lung squamous cell carcinoma	494	1.124	0.551	NS
OV	Ovarian serous cystadenocarcinoma	303	0.933	0.738	NS
PAAD	Pancreatic adenocarcinoma	177	0.849	0.598	NS
PCPG	Pheochromocytoma and Paraganglioma	179	1.147	0.923	NS
PRAD	Prostate adenocarcinoma	497	3.478	0.292	NS
READ	Rectum adenocarcinoma	159	1.044	0.939	NS
SARC	Sarcoma	259	1.667	0.0839	NS
SKCM	Skin Cutaneous Melanoma	459	1.105	0.614	NS
STAD	Stomach adenocarcinoma	388	0.635	0.0424	Longer
TGCT	Testicular Germ Cell Tumors	134	0	0.153	NS
THCA	Thyroid carcinoma	500	0.65	0.519	NS
THYM	Thymoma	119	0.815	0.788	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	0.979	0.938	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.147	0.00306	Lower
BRCA	Breast invasive carcinoma	1071	0.012	0.695	NS
CESC	Cervical and endocervical cancers	167	0.11	0.157	NS
COAD	Colon adenocarcinoma	445	0.038	0.42	NS
ESCA	Esophageal carcinoma	162	-0.107	0.175	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.034	0.478	NS
KIRC	Kidney renal clear cell carcinoma	531	0.015	0.724	NS
KIRP	Kidney renal papillary cell carcinoma	260	0.113	0.0689	NS
LIHC	Liver hepatocellular carcinoma	347	0.151	0.00472	Higher
LUAD	Lung adenocarcinoma	507	-0.027	0.545	NS
LUSC	Lung squamous cell carcinoma	497	-0.008	0.858	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.063	0.272	NS
PAAD	Pancreatic adenocarcinoma	176	-0.014	0.854	NS
READ	Rectum adenocarcinoma	156	0.07	0.384	NS
SKCM	Skin Cutaneous Melanoma	410	-0.005	0.912	NS
STAD	Stomach adenocarcinoma	392	-0.057	0.262	NS
TGCT	Testicular Germ Cell Tumors	81	0.144	0.201	NS
THCA	Thyroid carcinoma	499	-0.071	0.113	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.027	0.55	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.029	0.635	NS
HNSC	Head and Neck squamous cell carcinoma	498	-0.115	0.0105	Lower
KIRC	Kidney renal clear cell carcinoma	525	-0.018	0.679	NS
LGG	Brain Lower Grade Glioma	514	-0.005	0.903	NS
LIHC	Liver hepatocellular carcinoma	366	0.096	0.066	NS
OV	Ovarian serous cystadenocarcinoma	296	0.065	0.267	NS
PAAD	Pancreatic adenocarcinoma	176	-0.111	0.143	NS
STAD	Stomach adenocarcinoma	406	-0.072	0.149	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.088	0.0414	Higher

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for KDM5C.

Summary
Symbol	KDM5C
Name	lysine demethylase 5C
Aliases	DXS1272E; XE169; SMCX; JARID1C; MRX13; Jumonji, AT rich interactive domain 1C (RBP2-like); Smcy homolog, X-l ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
26858085	Gastric Carcinoma	upstream	miR-138	Regulation	We discovered that KDM5C is overexpressed in breast cancer cells, providing evidence that miR-138 regulates its expression.
26858085	Gastric Carcinoma	downstream	p53	Negative regulation	Cells with overexpression of KDM5C exhibited greatly decreased p53 expression, whereas silencing of KDM5C expression dramatically increased p53 expression at both the messenger RNA and protein levels.
26551685	Renal Cell Carcinoma	partner	H3K9; SUV39H1; HP1α; DDB1.	binding	Here, we determined that JARID1C binds broadly to chromatin domains characterized by the trimethylation of lysine 9 (H3K9me3), which is a histone mark enriched in heterochromatin. Moreover, we found that JARID1C localizes on heterochromatin, is required for heterochromatin replication, and forms a complex with established players of heterochromatin assembly, including SUV39H1 and HP1α, as well as with proteins not previously associated with heterochromatin assembly, such as the cullin 4 (CUL4) complex adaptor protein DDB1.
26503415	Hepatocellular Carcinoma	downstream	BMP7	Negative regulation	Furthermore, ectopic expression of KDM5C in HCC cells promoted cell migration, invasion and epithelial-mesenchymal transition via the inactivation of BMP7.
26182878	Breast Carcinoma	downstream	BRMS1	Negative regulation	Moreover, we also found that the expression of BRMS1 was modulated by JARID1C. Silencing of JARID1C dramatically increased BRMS1 expression both at mRNA and protein level. Mechanistically, we found JARID1C exerts its function through modulation of H3K4me3 at the BRMS1 gene promoter, which was associated with inactive BRMS1 transcription.
21725364	Clear Cell Renal Cell Carcinoma	downstream	H3K4Me3	regulation	Recently, a large-scale genomic sequencing study of ccRCC tumors revealed that enzymes that regulate histone H3 lysine 4 trimethylation (H3K4Me3), such as JARID1C/KDM5C/SMCX and MLL2, were mutated in ccRCC tumors, suggesting that H3K4Me3 might have an important role in regulating gene expression and tumorigenesis.