AutismKB 2.0

Evidence Details for KDM4C


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Basic Information Top
Gene Symbol:KDM4C ( FLJ25949,GASC1,JHDM3C,JMJD2C,KIAA0780,bA146B14.1 )
Gene Full Name: lysine (K)-specific demethylase 4C
Band: 9p24.1
Quick LinksEntrez ID:23081; OMIM: 605469; Uniprot ID:KDM4C_HUMAN; ENSEMBL ID: ENSG00000107077; HGNC ID: 17071
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KDM4C|23081|nucleotide
ATGGAGGTGGCCGAGGTGGAAAGTCCTCTGAACCCCAGCTGTAAGATAATGACCTTCAGACCCTCCATGGAGGAGTTCCGGGAGTTCAACAAATACCTTGCATAC
ATGGAGTCTAAAGGAGCCCATCGTGCGGGTCTTGCAAAGGTGATTCCTCCTAAGGAGTGGAAGCCAAGACAGTGCTATGATGACATTGATAATTTGCTCATTCCA
GCACCAATTCAGCAGATGGTCACAGGGCAGTCAGGACTGTTCACTCAGTACAACATCCAGAAAAAAGCGATGACTGTGAAGGAGTTCAGGCAGCTGGCCAACAGT
GGCAAATATTGTACTCCAAGATACTTGGATTACGAAGATTTGGAGCGCAAGTACTGGAAGAACTTAACTTTTGTGGCACCTATCTATGGTGCAGATATTAATGGG
AGCATATATGATGAGGGTGTGGATGAATGGAACATAGCTCGCCTCAATACAGTCTTGGATGTGGTTGAAGAAGAGTGTGGCATTTCTATTGAGGGTGTAAATACC
CCATATCTCTATTTTGGCATGTGGAAGACCACGTTTGCATGGCACACCGAAGACATGGACCTCTATAGCATTAATTATCTCCACTTTGGAGAGCCCAAGTCTTGG
TATGCTATACCTCCGGAGCATGGAAAACGACTTGAAAGACTAGCTCAAGGTTTTTTCCCAAGCAGCTCCCAAGGGTGTGATGCATTTCTTCGCCACAAGATGACA
TTGATTTCTCCATCAGTATTGAAGAAATATGGTATTCCCTTTGACAAGATAACCCAGGAGGCTGGAGAATTCATGATCACTTTCCCATATGGCTACCATGCTGGT
TTTAATCATGGTTTCAACTGTGCAGAATCTACAAATTTTGCTACTGTCAGATGGATTGACTATGGAAAAGTTGCCAAATTGTGCACTTGCAGGAAAGACATGGTG
AAGATTTCAATGGATATCTTTGTGAGGAAATTTCAGCCAGACAGATATCAGCTTTGGAAACAAGGAAAGGATATATACACCATTGATCACACGAAGCCTACTCCA
GCATCCACCCCTGAAGTAAAAGCATGGCTGCAGAGGAGGAGGAAAGTAAGAAAAGCATCCCGAAGCTTCCAGTGTGCTAGGTCTACCTCTAAAAGGCCTAAGGCT
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>KDM4C|23081|protein
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIDNLLIPAPIQQMVTGQSGLFTQYNIQKKAMTVKEFRQLANS
GKYCTPRYLDYEDLERKYWKNLTFVAPIYGADINGSIYDEGVDEWNIARLNTVLDVVEEECGISIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFGEPKSW
YAIPPEHGKRLERLAQGFFPSSSQGCDAFLRHKMTLISPSVLKKYGIPFDKITQEAGEFMITFPYGYHAGFNHGFNCAESTNFATVRWIDYGKVAKLCTCRKDMV
KISMDIFVRKFQPDRYQLWKQGKDIYTIDHTKPTPASTPEVKAWLQRRRKVRKASRSFQCARSTSKRPKADEEEEVSDEVDGAEVPNPDSVTDDLKVSEKSEAAV
KLRNTEASSEEESSASRMQVEQNLSDHIKLSGNSCLSTSVTEDIKTEDDKAYAYRSVPSISSEADDSIPLSSGYEKPEKSDPSELSWPKSPESCSSVAESNGVLT
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018