AutismKB 2.0

Evidence Details for BBS7


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Basic Information Top
Gene Symbol:BBS7 ( BBS2L1,FLJ10715 )
Gene Full Name: Bardet-Biedl syndrome 7
Band: 4q27
Quick LinksEntrez ID:55212; OMIM: 607590; Uniprot ID:BBS7_HUMAN; ENSEMBL ID: ENSG00000138686; HGNC ID: 18758
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BBS7|55212|nucleotide
ATGGATCTGATTTTAAACCGAATGGATTATCTGCAGGTGGGAGTAACATCTCAGAAGACTATGAAGCTAATTCCTGCCTCAAGACACAGAGCTACACAAAAGGTG
GTTATTGGAGATCATGATGGGGTAGTTATGTGCTTTGGCATGAAGAAAGGAGAAGCAGCAGCAGTGTTCAAGACTTTACCCGGGCCGAAGATTGCAAGGCTGGAA
CTGGGAGGGGTTATCAACACACCTCAGGAGAAAATTTTTATTGCTGCAGCATCTGAGATTAGAGGCTTCACAAAAAGAGGAAAACAGTTCCTCTCCTTTGAAACA
AACCTCACTGAAAGCATTAAAGCTATGCACATATCTGGCTCAGACCTCTTTCTCAGTGCAAGTTACATCTATAACCATTATTGTGACTGCAAAGACCAACATTAT
TACCTTTCTGGGGATAAAATCAATGATGTGATCTGCCTTCCAGTGGAAAGATTATCTCGTATCACACCTGTATTGGCCTGCCAGGACAGAGTGCTCAGAGTTTTA
CAGGGATCTGATGTGATGTATGCAGTTGAAGTTCCTGGACCCCCTACTGTCTTAGCACTACACAATGGAAATGGCGGTGACTCTGGAGAAGACCTTTTGTTTGGG
ACATCAGACGGAAAACTTGCGCTTATACAGATTACTACATCCAAACCAGTACGCAAGTGGGAAATTCAAAATGAGAAAAAGAGAGGAGGTATTTTGTGTATTGAC
AGCTTTGACATTGTGGGTGATGGGGTTAAAGATTTACTTGTTGGGAGAGATGACGGAATGGTGGAAGTGTATAGTTTTGATAATGCAAATGAACCTGTTCTACGA
TTTGATCAGATGTTGTCTGAAAGCGTCACATCTATCCAGGGTGGTTGTGTAGGAAAAGACAGCTATGATGAAATCGTGGTGTCCACATATTCAGGCTGGGTTACA
GGTCTGACAACAGAGCCCATTCATAAGGAAAGTGGACCAGGAGAAGAACTAAAAATTAATCAGGAGATGCAGAATAAAATTTCTTCCTTACGGAATGAGTTGGAA
CATTTGCAGTATAAGGTATTGCAGGAAAGAGAGAATTATCAACAGTCTTCTCAATCAAGCAAAGCAAAATCAGCAGTACCTTCCTTTGGTATAAATGATAAATTT
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>BBS7|55212|protein
MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKTLPGPKIARLELGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFET
NLTESIKAMHISGSDLFLSASYIYNHYCDCKDQHYYLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDVMYAVEVPGPPTVLALHNGNGGDSGEDLLFG
TSDGKLALIQITTSKPVRKWEIQNEKKRGGILCIDSFDIVGDGVKDLLVGRDDGMVEVYSFDNANEPVLRFDQMLSESVTSIQGGCVGKDSYDEIVVSTYSGWVT
GLTTEPIHKESGPGEELKINQEMQNKISSLRNELEHLQYKVLQERENYQQSSQSSKAKSAVPSFGINDKFTLNKDDASYSLILEVQTAIDNVLIQSDVPIDLLDV
DKNSAVVSFSSCDSESNDNFLLATYRCQADTTRLELKIRSIEGQYGTLQAYVTPRIQPKTCQVRQYHIKPLSLHQRTHFIDHDRPMNTLTLTGQFSFAEVHSWVV
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top