Evidence Details for BBS7


Gene Symbol: | BBS7 ( BBS2L1,FLJ10715 ) |
---|---|
Gene Full Name: | Bardet-Biedl syndrome 7 |
Band: | 4q27 |
Quick Links | Entrez ID:55212; OMIM: 607590; Uniprot ID:BBS7_HUMAN; ENSEMBL ID: ENSG00000138686; HGNC ID: 18758 |
Relate to Another Database: | SFARIGene; denovo-db |


>BBS7|55212|nucleotide
ATGGATCTGATTTTAAACCGAATGGATTATCTGCAGGTGGGAGTAACATCTCAGAAGACTATGAAGCTAATTCCTGCCTCAAGACACAGAGCTACACAAAAGGTG
GTTATTGGAGATCATGATGGGGTAGTTATGTGCTTTGGCATGAAGAAAGGAGAAGCAGCAGCAGTGTTCAAGACTTTACCCGGGCCGAAGATTGCAAGGCTGGAA
CTGGGAGGGGTTATCAACACACCTCAGGAGAAAATTTTTATTGCTGCAGCATCTGAGATTAGAGGCTTCACAAAAAGAGGAAAACAGTTCCTCTCCTTTGAAACA
AACCTCACTGAAAGCATTAAAGCTATGCACATATCTGGCTCAGACCTCTTTCTCAGTGCAAGTTACATCTATAACCATTATTGTGACTGCAAAGACCAACATTAT
TACCTTTCTGGGGATAAAATCAATGATGTGATCTGCCTTCCAGTGGAAAGATTATCTCGTATCACACCTGTATTGGCCTGCCAGGACAGAGTGCTCAGAGTTTTA
CAGGGATCTGATGTGATGTATGCAGTTGAAGTTCCTGGACCCCCTACTGTCTTAGCACTACACAATGGAAATGGCGGTGACTCTGGAGAAGACCTTTTGTTTGGG
ACATCAGACGGAAAACTTGCGCTTATACAGATTACTACATCCAAACCAGTACGCAAGTGGGAAATTCAAAATGAGAAAAAGAGAGGAGGTATTTTGTGTATTGAC
AGCTTTGACATTGTGGGTGATGGGGTTAAAGATTTACTTGTTGGGAGAGATGACGGAATGGTGGAAGTGTATAGTTTTGATAATGCAAATGAACCTGTTCTACGA
TTTGATCAGATGTTGTCTGAAAGCGTCACATCTATCCAGGGTGGTTGTGTAGGAAAAGACAGCTATGATGAAATCGTGGTGTCCACATATTCAGGCTGGGTTACA
GGTCTGACAACAGAGCCCATTCATAAGGAAAGTGGACCAGGAGAAGAACTAAAAATTAATCAGGAGATGCAGAATAAAATTTCTTCCTTACGGAATGAGTTGGAA
CATTTGCAGTATAAGGTATTGCAGGAAAGAGAGAATTATCAACAGTCTTCTCAATCAAGCAAAGCAAAATCAGCAGTACCTTCCTTTGGTATAAATGATAAATTT
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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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MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKTLPGPKIARLELGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFET
NLTESIKAMHISGSDLFLSASYIYNHYCDCKDQHYYLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDVMYAVEVPGPPTVLALHNGNGGDSGEDLLFG
TSDGKLALIQITTSKPVRKWEIQNEKKRGGILCIDSFDIVGDGVKDLLVGRDDGMVEVYSFDNANEPVLRFDQMLSESVTSIQGGCVGKDSYDEIVVSTYSGWVT
GLTTEPIHKESGPGEELKINQEMQNKISSLRNELEHLQYKVLQERENYQQSSQSSKAKSAVPSFGINDKFTLNKDDASYSLILEVQTAIDNVLIQSDVPIDLLDV
DKNSAVVSFSSCDSESNDNFLLATYRCQADTTRLELKIRSIEGQYGTLQAYVTPRIQPKTCQVRQYHIKPLSLHQRTHFIDHDRPMNTLTLTGQFSFAEVHSWVV
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |














Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |






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