AutismKB 2.0

Evidence Details for HERC6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HERC6 ( FLJ20637 )
Gene Full Name: hect domain and RLD 6
Band: 4q22.1
Quick LinksEntrez ID:55008; OMIM: 609249; Uniprot ID:HERC6_HUMAN; ENSEMBL ID: ENSG00000138642; HGNC ID: 26072
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HERC6|55008|nucleotide
ATGTACTTCTGTTGGGGCGCCGACTCCAGGGAGCTGCAGCGCCGGAGGACGGCGGGCAGCCCCGGGGCTGAGCTACTGCAGGCGGCCAGCGGGGAGCGCCACTCT
CTGCTGCTGCTGACCAACCACAGGGTCCTCTCGTGCGGAGACAACAGCAGGGGTCAGCTGGGCCGCAGGGGCGCGCAGCGCGGGGAGCTGCCAGAACCAATTCAG
GCATTGGAAACCCTAATTGTTGATCTCGTGAGCTGCGGGAAGGAGCACTCCCTGGCTGTGTGCCACAAAGGAAGGGTCTTCGCATGGGGAGCTGGTTCTGAAGGG
CAGCTGGGGATTGGAGAATTCAAGGAAATAAGTTTCACACCTAAGAAAATAATGACTCTGAATGATATAAAAATAATACAAGTTTCCTGTGGACACTACCACTCC
CTGGCATTATCAAAAGATAGCCAAGTGTTTTCGTGGGGAAAGAACAGCCATGGGCAGCTGGGCTTGGGGAAGGAGTTCCCCTCCCAAGCCAGCCCGCAGAGGGTG
AGGTCCCTGGAGGGGATCCCACTGGCTCAGGTGGCTGCCGGAGGGGCTCACAGCTTTGCCCTGTCTCTCTGTGGGACTTCGTTTGGCTGGGGAAGTAACAGTGCC
GGGCAGCTGGCCCTCAGTGGGCGTAATGTCCCAGTGCAAAGCAACAAGCCTCTCTCAGTCGGTGCACTGAAGAATCTAGGTGTGGTTTATATCAGCTGTGGTGAT
GCACACACTGCGGTGCTTACCCAGGACGGGAAAGTGTTCACATTTGGAGACAATCGCTCTGGACAGCTGGGATACAGCCCCACTCCTGAGAAGAGAGGTCCACAA
CTTGTGGAAAGAATTGATGGCCTAGTTTCGCAGATAGATTGTGGAAGTTATCACACCCTGGCATATGTGCACACCACTGGTCAGGTGGTATCTTTTGGTCATGGA
CCAAGTGACACAAGCAAGCCAACTCATCCGGAGGCCCTGACAGAGAACTTTGACATTAGCTGCCTGATTTCTGCTGAAGACTTCGTGGATGTTCAAGTCAAACAC
ATTTTTGCTGGAACATATGCCAACTTTGTGACAACTCATCAGGATACTAGTTCCACACGTGCTCCCGGGAAAACCCTGCCAGAAATAAGCCGAATTAGCCAGTCC
Show »

>HERC6|55008|protein
MYFCWGADSRELQRRRTAGSPGAELLQAASGERHSLLLLTNHRVLSCGDNSRGQLGRRGAQRGELPEPIQALETLIVDLVSCGKEHSLAVCHKGRVFAWGAGSEG
QLGIGEFKEISFTPKKIMTLNDIKIIQVSCGHYHSLALSKDSQVFSWGKNSHGQLGLGKEFPSQASPQRVRSLEGIPLAQVAAGGAHSFALSLCGTSFGWGSNSA
GQLALSGRNVPVQSNKPLSVGALKNLGVVYISCGDAHTAVLTQDGKVFTFGDNRSGQLGYSPTPEKRGPQLVERIDGLVSQIDCGSYHTLAYVHTTGQVVSFGHG
PSDTSKPTHPEALTENFDISCLISAEDFVDVQVKHIFAGTYANFVTTHQDTSSTRAPGKTLPEISRISQSMAEKWIAVKRRSTEHEMAKSEIRMIFSSPACLTAS
FLKKRGTGETTSIDVDLEMARDTFKKLTKKEWISSMITTCLEDDLLRALPCHSPHQEALSVFLLLPECPVMHDSKNWKNLVVPFAKAVCEMSKQSLQVLKKCWAF
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top