AutismKB

Evidence Detail for KDM5C


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Basic Information Top
Gene Symbol:KDM5C ( DXS1272E,JARID1C,MRXJ,MRXSJ,SMCX,XE169 )
Gene Full Name: lysine (K)-specific demethylase 5C
Band: Xp11.22-p11.21
Quick LinksEntrez ID:8242; OMIM: 314690; Uniprot ID:KDM5C_HUMAN; ENSEMBL ID: ENSG00000126012
Sequences Top
>KDM5C|8242|nucleotide
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>KDM5C|8242|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 2 (2) 16 (2)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation, X-linked, syndromic, JARID1C-related (300534)
DescriptionLarge spectrum of phenotypes including ID with microcephaly, spasticity, short stature, epilepsy, and facial anomalies, as well as non-syndromic ID
Reference(s)18203167;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Adegbola, 2008_1 human blood--ASD genetics
  • Subjects: 1
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: Mutational analysis revealed a novel missense mutation in exon 16 of the JARID1C gene that results in an arginine to tryptophan substitution at amino acid 766 (R766W)
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 161 X-linked synapic genes
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000714 X Xp11.22-p11.23 gain 1 - CNVs Only Present In Patients; Edens, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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