AutismKB 2.0

Evidence Details for KDM5B


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Basic Information Top
Gene Symbol:KDM5B ( CT31,FLJ10538,FLJ12459,FLJ12491,FLJ16281,FLJ23670,JARID1B,PLU-1,PLU1,PUT1,RBBP2H1A )
Gene Full Name: lysine (K)-specific demethylase 5B
Band: 1q32.1
Quick LinksEntrez ID:10765; OMIM: 605393; Uniprot ID:KDM5B_HUMAN; ENSEMBL ID: ENSG00000117139; HGNC ID: 18039
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KDM5B|10765|nucleotide
ATGGAGGCGGCCACCACACTGCACCCAGGCCCGCGCCCGGCGCTGCCCCTCGGGGGCCCGGGCCCGCTGGGCGAGTTCCTGCCTCCACCCGAGTGCCCGGTCTTC
GAACCCAGCTGGGAAGAGTTCGCGGACCCCTTCGCTTTCATCCACAAGATCCGGCCCATAGCCGAGCAGACTGGCATCTGTAAGGTGCGGCCGCCGCCGGATTGG
CAGCCACCATTTGCATGTGATGTTGATAAACTTCATTTTACGCCACGTATCCAGAGACTGAATGAATTGGAGGCCCAAACTCGTGTAAAATTGAATTTCTTGGAC
CAGATTGCAAAGTACTGGGAGTTACAGGGAAGTACTCTGAAAATTCCACATGTGGAGAGGAAGATCTTGGACTTATTTCAGCTTAATAAGTTAGTTGCAGAAGAA
GGTGGATTTGCAGTTGTTTGCAAGGATAGAAAATGGACCAAAATTGCTACCAAGATGGGGTTTGCTCCTGGCAAAGCAGTGGGCTCACATATCAGAGGGCATTAT
GAACGAATTCTCAACCCCTACAACTTATTCCTGTCCGGAGACAGCCTAAGGTGTTTGCAGAAGCCAAACCTGACCACAGACACTAAGGACAAGGAGTACAAACCC
CATGATATTCCCCAGAGGCAGTCTGTGCAGCCTTCGGAAACGTGCCCCCCAGCCCGACGAGCAAAACGCATGAGAGCAGAGGCCATGAATATTAAAATAGAACCC
GAGGAGACAACGGAAGCCAGAACTCATAATCTGAGACGTCGAATGGGTTGTCCAACTCCAAAATGTGAAAATGAGAAAGAAATGAAGAGTAGCATCAAGCAAGAA
CCTATTGAGAGGAAAGATTATATTGTAGAAAATGAGAAGGAAAAGCCCAAGAGTCGATCTAAAAAAGCCACCAATGCTGTGGACCTGTATGTCTGTCTTTTATGT
GGCAGTGGCAATGATGAAGACCGGCTACTGTTGTGTGATGGCTGTGATGACAGTTACCATACCTTTTGCTTGATCCCACCTCTCCATGATGTTCCCAAGGGAGAC
TGGAGGTGTCCTAAGTGTTTGGCTCAGGAATGTAGTAAGCCACAAGAAGCATTTGGCTTTGAACAAGCAGCCAGGGACTATACCCTCCGTACTTTTGGGGAAATG
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>KDM5B|10765|protein
MEAATTLHPGPRPALPLGGPGPLGEFLPPPECPVFEPSWEEFADPFAFIHKIRPIAEQTGICKVRPPPDWQPPFACDVDKLHFTPRIQRLNELEAQTRVKLNFLD
QIAKYWELQGSTLKIPHVERKILDLFQLNKLVAEEGGFAVVCKDRKWTKIATKMGFAPGKAVGSHIRGHYERILNPYNLFLSGDSLRCLQKPNLTTDTKDKEYKP
HDIPQRQSVQPSETCPPARRAKRMRAEAMNIKIEPEETTEARTHNLRRRMGCPTPKCENEKEMKSSIKQEPIERKDYIVENEKEKPKSRSKKATNAVDLYVCLLC
GSGNDEDRLLLCDGCDDSYHTFCLIPPLHDVPKGDWRCPKCLAQECSKPQEAFGFEQAARDYTLRTFGEMADAFKSDYFNMPVHMVPTELVEKEFWRLVSTIEED
VTVEYGADIASKEFGSGFPVRDGKIKLSPEEEEYLDSGWNLNNMPVMEQSVLAHITADICGMKLPWLYVGMCFSSFCWHIEDHWSYSINYLHWGEPKTWYGVPGY
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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 (1) 0 (0) 0 (0) 0 (0) 2 (6) 0 (0) 0 (0) 0 (0) 20 (7)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top