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