KDM5C lysine demethylase 5C

Information
Symbol
KDM5C
Type
protein-coding
Description
lysine demethylase 5C
Entrez Gene ID
8242
Genome
hg19
Position
chrX:53,221,340-53,254,389
Genome
hg38
Position
chrX:53,192,158-53,225,207
MIM
314690 OMIM
HGNC
HGNC:11114 HGNC
Ensembl
ENSG00000126012 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 160
Likely pathogenic 0 108
Benign 0 196
Likely benign 0 474
Conflicting classifications of pathogenicity 0 58
not provided 30 14
Uncertain significance 0 494
Ranking
ClinVar
0
0
170
1,166
36
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM DXS1272E
SYNONYM JARID1C
SYNONYM MRX13
SYNONYM MRXJ
SYNONYM MRXSCJ
SYNONYM MRXSJ
SYNONYM SMCX
SYNONYM XE169
MIM 314690 OMIM
HGNC HGNC:11114 HGNC
Ensembl ENSG00000126012 Ensembl
AllianceGenome HGNC:11114
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000688699.1 hg38 chrX 53,191,080 53,225,208 34,129
ENST00000375383.7 hg38 chrX 53,192,929 53,225,422 32,494
ENST00000693277.1 hg38 chrX 53,176,343 53,224,801 48,459
ENST00000375379.7 hg38 chrX 53,192,929 53,225,422 32,494
ENST00000404049.7 hg38 chrX 53,192,257 53,225,176 32,920
ENST00000691505.1 hg38 chrX 53,192,292 53,225,193 32,902
ENST00000452825.7 hg38 chrX 53,191,321 53,225,422 34,102
ENST00000685641.1 hg38 chrX 53,176,288 53,225,224 48,937
ENST00000375401.8 hg38 chrX 53,192,158 53,225,207 33,050
ENST00000452825.7 hg19 chrX 53,220,503 53,254,604 34,102
ENST00000375401.8 hg19 chrX 53,221,340 53,254,389 33,050
ENST00000404049.7 hg19 chrX 53,221,439 53,254,358 32,920
ENST00000375379.7 hg19 chrX 53,222,111 53,254,604 32,494
ENST00000375383.7 hg19 chrX 53,222,111 53,254,604 32,494
ENST00000691505.1 hg19 chrX 53,221,474 53,254,375 32,902
ENST00000688699.1 hg19 chrX 53,220,262 53,254,390 34,129
ENST00000685641.1 hg19 chrX 53,205,470 53,254,406 48,937
ENST00000693277.1 hg19 chrX 53,205,525 53,253,983 48,459
KeyValue
strand-
start53,220,502
VogelsteinTSG
Gene SymbolKDM5C
Entrez GeneId8,242
Chr BandXp11.22-p11.21
end53,254,603
chrchrX
Namelysine (K)-specific demethylase 5C (JARID1C)
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