AutismKB 2.0

Evidence Details for BBS1


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Basic Information Top
Gene Symbol:BBS1 ( BBS2L2,FLJ23590,MGC126183,MGC126184,MGC51114 )
Gene Full Name: Bardet-Biedl syndrome 1
Band: 11q13.2
Quick LinksEntrez ID:582; OMIM: 209901; Uniprot ID:BBS1_HUMAN; ENSEMBL ID: ENSG00000174483; HGNC ID: 966
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BBS1|582|nucleotide
ATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCAC
ACCTTTTCTGCCTGCCTAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGCTGGTGGTAGGGGACCTTGGCCCTGGTGGGCAGCAGCCCCGCCTGAAGGTG
CTCAAAGGACCACTGGTGATGACCGAAAGCCCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGGACCCCAGCTCTGGCA
CTTGCTTCAGGCCCTTGTGTCTATGTGTATAAGAATCTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAAC
CAGGCCAAAGAGGACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCGGGAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAGGTTTCTG
CAGCTGGAGCTAAGTGAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTG
GCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGATGAGCCTTCCC
AGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGAGACTCCAAG
CACCCCAAGTACTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTATCCGGGTACACAAGGTCCTAGTGGTGGGCAGCACCCAAGACAGCCTGCATGGCTTCACC
CACAAGGGGAAGAAGCTGTGGACAGTGCAGATGCCCGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCATTCCCGGGGCCTGCAGGCCGTCATGGCTGGGCTG
GCCAATGGAGAGGTCCGCATTTATCGTGACAAGGCCCTGCTCAATGTCATCCACACCCCGGATGCAGTGACCAGCCTTTGCTTTGGCCGGTACGGGCGGGAGGAC
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>BBS1|582|protein
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPRTPALA
LASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNL
ADEDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFT
HKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGGSEVGPPPA
QAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLSTTAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNE
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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 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top