AutismKB 2.0

Evidence Details 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
Quick LinksEntrez ID:8242; OMIM: 314690; Uniprot ID:KDM5C_HUMAN; ENSEMBL ID: ENSG00000126012; HGNC ID: 11114
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KDM5C|8242|nucleotide
ATGGAGCCGGGGTCCGACGATTTCCTACCGCCACCGGAGTGCCCGGTGTTCGAGCCTAGCTGGGCCGAGTTCCGAGACCCTCTTGGCTACATCGCGAAAATCAGG
CCCATCGCAGAGAAATCGGGCATTTGCAAGATCCGCCCACCCGCGATTGTGGTGGAGGAAGGTGGTTATGAAGCTATCTGCAAGGACCGTCGGTGGGCTCGGGTA
GCCCAGCGCCTCAACTATCCACCAGGCAAAAATATTGGCTCCTTGCTACGCTCCCACTACGAACGCATTGTTTATCCCTATGAAATGTACCAGTCTGGAGCCAAC
CTTGTGCAGTGTAACACACGTCCATTTGATAATGAGGAGAAGGACAAGGAATACAAACCCCACAGCATCCCCCTACGACAGTCTGTGCAGCCTTCCAAGTTCAAC
AGCTATGGCCGGCGGGCCAAGAGACTGCAGCCTGATCCGGAACCCACAGAGGAAGACATTGAGAAGAATCCAGAGCTGAAAAAGCTACAGATCTATGGGGCAGGC
CCCAAGATGATGGGCCTGGGCCTCATGGCCAAAGACAAGACTCTGCGGAAGAAAGATAAGGAGGGGCCTGAGTGTCCCCCCACAGTAGTGGTGAAGGAGGAGTTA
GGTGGGGATGTGAAGGTGGAGTCAACATCGCCTAAGACCTTCCTGGAGAGCAAGGAGGAGCTGAGTCACAGCCCAGAACCCTGCACCAAGATGACCATGAGGCTA
CGGAGGAACCACAGCAATGCCCAGTTTATTGAGTCATATGTCTGCCGGATGTGTTCTCGAGGGGATGAGGATGACAAGCTCCTGCTGTGTGATGGCTGTGATGAC
AACTACCACATCTTCTGCCTGCTGCCTCCTCTGCCTGAGATCCCCAAGGGTGTCTGGCGGTGCCCAAAGTGTGTCATGGCGGAGTGTAAGCGGCCCCCAGAAGCC
TTTGGCTTTGAGCAGGCTACCCGGGAATACACTCTGCAGAGCTTTGGCGAGATGGCCGACTCCTTTAAAGCTGACTACTTCAACATGCCCGTGCATATGGTGCCC
ACAGAACTTGTGGAGAAGGAGTTCTGGAGGCTGGTAAATAGCATTGAGGAAGATGTGACTGTTGAGTATGGAGCTGACATCCATTCCAAAGAATTTGGCAGCGGT
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>KDM5C|8242|protein
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPAIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGAN
LVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDPEPTEEDIEKNPELKKLQIYGAGPKMMGLGLMAKDKTLRKKDKEGPECPPTVVVKEEL
GGDVKVESTSPKTFLESKEELSHSPEPCTKMTMRLRRNHSNAQFIESYVCRMCSRGDEDDKLLLCDGCDDNYHIFCLLPPLPEIPKGVWRCPKCVMAECKRPPEA
FGFEQATREYTLQSFGEMADSFKADYFNMPVHMVPTELVEKEFWRLVNSIEEDVTVEYGADIHSKEFGSGFPVSDSKRHLTPEEEEYATSGWNLNVMPVLEQSVL
CHINADISGMKVPWLYVGMVFSAFCWHIEDHWSYSINYLHWGEPKTWYGVPSLAAEHLEEVMKKLTPELFDSQPDLLHQLVTLMNPNTLMSHGVPVVRTNQCAGE
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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) Yes 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 1 (1) 12 (6)
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.
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
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Fieremans N, 2015 - X chromosome-specific aCGH--- 1 1 - - 1 - 1
Linkage Studies Top