AutismKB 2.0

Evidence Details for KDM6B


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Basic Information Top
Gene Symbol:KDM6B ( JMJD3,KIAA0346 )
Gene Full Name: lysine (K)-specific demethylase 6B
Band: 17p13.1
Quick LinksEntrez ID:23135; OMIM: 611577; Uniprot ID:KDM6B_HUMAN; ENSEMBL ID: ENSG00000132510; HGNC ID: 29012
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KDM6B|23135|nucleotide
ATGCATCGGGCAGTGGACCCTCCAGGGGCCCGCGCTGCACGGGAAGCCTTTGCCCTTGGGGGCCTGAGCTGTGCTGGGGCCTGGAGCTCCTGCCCGCCTCATCCC
CCTCCTCGTAGCGCATGGCTGCCTGGAGGCAGATGCTCAGCCAGCATTGGGCAGCCCCCGCTTCCTGCTCCCCTACCCCCTTCACATGGCAGTAGTTCTGGGCAC
CCCAGCAAACCATATTATGCTCCAGGGGCGCCCACTCCAAGACCCCTCCATGGGAAGCTGGAATCCCTGCATGGCTGTGTGCAGGCATTGCTCCGGGAGCCAGCC
CAGCCAGGGCTTTGGGAACAGCTTGGGCAACTGTACGAGTCAGAGCACGATAGTGAGGAGGCCACACGCTGCTACCACAGCGCCCTTCGATACGGAGGAAGCTTC
GCTGAGCTGGGGCCCCGCATTGGCCGACTGCAGCAGGCCCAGCTCTGGAACTTTCATACTGGCTCCTGCCAGCACCGAGCCAAGGTCCTGCCCCCACTGGAGCAA
GTGTGGAACTTGCTACACCTTGAGCACAAACGGAACTATGGAGCCAAGCGGGGAGGTCCCCCGGTGAAGCGAGCTGCTGAACCCCCAGTGGTGCAGCCTGTGCCT
CCTGCAGCACTCTCAGGCCCCTCAGGGGAGGAGGGCCTCAGCCCTGGAGGCAAGCGAAGGAGAGGCTGCAACTCTGAACAGACTGGCCTTCCCCCAGGGCTGCCA
CTGCCTCCACCACCATTACCACCACCACCACCACCACCACCACCACCACCACCACCCCTGCCTGGCCTGGCTACCAGCCCCCCATTTCAGCTAACCAAGCCAGGG
CTGTGGAGTACCCTGCATGGAGATGCCTGGGGCCCAGAGCGCAAGGGTTCAGCACCCCCAGAGCGCCAGGAGCAGCGGCACTCGCTGCCTCACCCATATCCATAC
CCAGCTCCAGCGTACACCGCGCACCCCCCTGGCCACCGGCTGGTCCCGGCTGCTCCCCCAGGCCCAGGCCCCCGCCCCCCAGGAGCAGAGAGCCATGGCTGCCTG
CCTGCCACCCGTCCCCCCGGAAGTGACCTTAGAGAGAGCAGAGTTCAGAGGTCGCGGATGGACTCCAGCGTTTCACCAGCAGCAACCACCGCCTGCGTGCCTTAC
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>KDM6B|23135|protein
MHRAVDPPGARAAREAFALGGLSCAGAWSSCPPHPPPRSAWLPGGRCSASIGQPPLPAPLPPSHGSSSGHPSKPYYAPGAPTPRPLHGKLESLHGCVQALLREPA
QPGLWEQLGQLYESEHDSEEATRCYHSALRYGGSFAELGPRIGRLQQAQLWNFHTGSCQHRAKVLPPLEQVWNLLHLEHKRNYGAKRGGPPVKRAAEPPVVQPVP
PAALSGPSGEEGLSPGGKRRRGCNSEQTGLPPGLPLPPPPLPPPPPPPPPPPPPLPGLATSPPFQLTKPGLWSTLHGDAWGPERKGSAPPERQEQRHSLPHPYPY
PAPAYTAHPPGHRLVPAAPPGPGPRPPGAESHGCLPATRPPGSDLRESRVQRSRMDSSVSPAATTACVPYAPSRPPGLPGTTTSSSSSSSSNTGLRGVEPNPGIP
GADHYQTPALEVSHHGRLGPSAHSSRKPFLGAPAATPHLSLPPGPSSPPPPPCPRLLRPPPPPAWLKGPACRAAREDGEILEELFFGTEGPPRPAPPPLPHREGF
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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) 1 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top