Evidence Details for ABCB11
Basic Information Top
Gene Symbol: | ABCB11 ( ABC16,BRIC2,BSEP,PFIC-2,PFIC2,PGY4,SPGP ) |
---|---|
Gene Full Name: | ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
Band: | 2q31.1 |
Quick Links | Entrez ID:8647; OMIM: 603201; Uniprot ID:ABCBB_HUMAN; ENSEMBL ID: ENSG00000073734; HGNC ID: 42 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ABCB11|8647|nucleotide
ATGTCTGACTCAGTAATTCTTCGAAGTATAAAGAAATTTGGAGAGGAGAATGATGGTTTTGAGTCAGATAAATCATATAATAATGATAAGAAATCAAGGTTACAA
GATGAGAAGAAAGGTGATGGCGTTAGAGTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCATCAACTGACATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTT
CTCCATGGAATAGCCCAGCCAGGCGTGCTACTCATTTTTGGCACAATGACAGATGTTTTTATTGACTACGACGTTGAGTTACAAGAACTCCAGATTCCAGGAAAA
GCATGTGTGAATAACACCATTGTATGGACTAACAGTTCCCTCAACCAGAACATGACAAATGGAACACGTTGTGGGTTGCTGAACATCGAGAGCGAAATGATCAAA
TTTGCCAGTTACTATGCTGGAATTGCTGTCGCAGTACTTATCACAGGATATATTCAAATATGCTTTTGGGTCATTGCCGCAGCTCGTCAGATACAGAAAATGAGA
AAATTTTACTTTAGGAGAATAATGAGAATGGAAATAGGGTGGTTTGACTGCAATTCAGTGGGGGAGCTGAATACAAGATTCTCTGATGATATTAATAAAATCAAT
GATGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGACCTCGACCATCTGTGGTTTCCTGTTGGGATTTTTCAGGGGTTGGAAACTGACCTTGGTTATT
ATTTCTGTCAGCCCTCTCATTGGGATTGGAGCAGCCACCATTGGTCTGAGTGTGTCCAAGTTTACGGACTATGAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTG
GCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAAGAGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGA
ATTAGAAAAGGAATAGTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTCATCTTTTTGTGTTATGCACTGGCCTTCTGGTACGGCTCCACACTTGTCCTGGAT
GAAGGAGAATATACACCAGGAACCCTTGTCCAGATTTTCCTCAGTGTCATAGTAGGAGCTTTAAATCTTGGCAATGCCTCTCCTTGTTTGGAAGCCTTTGCAACT
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ATGTCTGACTCAGTAATTCTTCGAAGTATAAAGAAATTTGGAGAGGAGAATGATGGTTTTGAGTCAGATAAATCATATAATAATGATAAGAAATCAAGGTTACAA
GATGAGAAGAAAGGTGATGGCGTTAGAGTTGGCTTCTTTCAATTGTTTCGGTTTTCTTCATCAACTGACATTTGGCTGATGTTTGTGGGAAGTTTGTGTGCATTT
CTCCATGGAATAGCCCAGCCAGGCGTGCTACTCATTTTTGGCACAATGACAGATGTTTTTATTGACTACGACGTTGAGTTACAAGAACTCCAGATTCCAGGAAAA
GCATGTGTGAATAACACCATTGTATGGACTAACAGTTCCCTCAACCAGAACATGACAAATGGAACACGTTGTGGGTTGCTGAACATCGAGAGCGAAATGATCAAA
TTTGCCAGTTACTATGCTGGAATTGCTGTCGCAGTACTTATCACAGGATATATTCAAATATGCTTTTGGGTCATTGCCGCAGCTCGTCAGATACAGAAAATGAGA
AAATTTTACTTTAGGAGAATAATGAGAATGGAAATAGGGTGGTTTGACTGCAATTCAGTGGGGGAGCTGAATACAAGATTCTCTGATGATATTAATAAAATCAAT
GATGCCATAGCTGACCAAATGGCCCTTTTCATTCAGCGCATGACCTCGACCATCTGTGGTTTCCTGTTGGGATTTTTCAGGGGTTGGAAACTGACCTTGGTTATT
ATTTCTGTCAGCCCTCTCATTGGGATTGGAGCAGCCACCATTGGTCTGAGTGTGTCCAAGTTTACGGACTATGAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTG
GCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAAGAGAGGTTGAAAGGTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGA
ATTAGAAAAGGAATAGTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTCATCTTTTTGTGTTATGCACTGGCCTTCTGGTACGGCTCCACACTTGTCCTGGAT
GAAGGAGAATATACACCAGGAACCCTTGTCCAGATTTTCCTCAGTGTCATAGTAGGAGCTTTAAATCTTGGCAATGCCTCTCCTTGTTTGGAAGCCTTTGCAACT
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>ABCB11|8647|protein
MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQIPGK
ACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKIN
DAIADQMALFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWG
IRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEI
EFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATM
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MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQIPGK
ACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKIN
DAIADQMALFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWG
IRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEI
EFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATM
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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 |
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Score (No. of Studies) | No | 0 (0) | 0 (0) | 2 (4) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 5 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Monaco, 2001 | - | microsatellite-based genomic screen | PDD | 152 | - | 152 | - | - | - | - | ||
Buxbaum, 2001 | USA | microsatellite-based genomic screen | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - | ||
Lamb, 2005 | - | microsatellite-based genomic screen | autism | 207 | - | 207 | - | 420 | - | - | ||
Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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