Evidence Details for SLCO2B1
Basic Information Top
Gene Symbol: | SLCO2B1 ( DKFZp686E0517,KIAA0880,OATP-B,OATP2B1,OATPB,SLC21A9 ) |
---|---|
Gene Full Name: | solute carrier organic anion transporter family, member 2B1 |
Band: | 11q13 |
Quick Links | Entrez ID:11309; OMIM: 604988; Uniprot ID:SO2B1_HUMAN; ENSEMBL ID: ENSG00000137491; HGNC ID: 10962 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SLCO2B1|11309|nucleotide
ATGGGCACAGAAAACACACCTGGAGGCAAAGCCAGCCCAGACCCTCAGGACGTGCGGCCAAGTGTGTTCCATAACATCAAGCTGTTCGTTCTGTGCCACAGCCTG
CTGCAGCTGGCGCAGCTCATGATCTCCGGCTACCTAAAGAGCTCCATCTCCACAGTGGAGAAGCGCTTCGGCCTCTCCAGCCAGACGTCGGGGCTGCTGGCCTCC
TTCAACGAGGTGGGGAACACAGCCTTGATTGTGTTTGTGAGCTATTTTGGCAGCCGGGTGCACCGACCCCGAATGATTGGCTATGGGGCTATCCTTGTGGCCCTG
GCGGGCCTGCTCATGACTCTCCCGCACTTCATCTCGGAGCCATACCGCTACGACAACACCAGCCCTGAGGATATGCCACAGGACTTCAAGGCTTCCCTGTGCCTG
CCCACAACCTCGGCCCCAGCCTCGGCCCCCTCCAATGGCAACTGCTCAAGCTACACAGAAACCCAGCATCTGAGTGTGGTGGGGATCATGTTCGTGGCACAGACC
CTGCTGGGCGTGGGCGGGGTGCCCATTCAGCCCTTTGGCATCTCCTACATCGATGACTTTGCCCACAACAGCAACTCGCCCCTCTACCTCGGGATCCTGTTTGCA
GTGACCATGATGGGGCCAGGCCTGGCCTTTGGGCTGGGCAGCCTCATGCTGCGCCTTTATGTGGACATTAACCAGATGCCAGAAGGTGGTATCAGCCTGACCATA
AAGGACCCCCGATGGGTGGGTGCCTGGTGGCTGGGTTTCCTCATCGCTGCCGGTGCAGTGGCCCTGGCTGCCATCCCCTACTTCTTCTTCCCCAAGGAAATGCCC
AAGGAAAAACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAGACTCACCTGCCAGGAAGGGCAAGGACTCTCCCTCTAAGCAGAGCCCTGGGGAGTCC
ACGAAGAAGCAGGATGGCCTAGTCCAGATTGCACCAAACCTGACTGTGATCCAGTTCATTAAAGTCTTCCCCAGGGTGCTGCTGCAGACCCTACGCCACCCCATC
TTCCTGCTGGTGGTCCTGTCCCAGGTATGCTTGTCATCCATGGCTGCGGGCATGGCCACCTTCCTGCCCAAGTTCCTGGAGCGCCAGTTTTCCATCACAGCCTCC
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ATGGGCACAGAAAACACACCTGGAGGCAAAGCCAGCCCAGACCCTCAGGACGTGCGGCCAAGTGTGTTCCATAACATCAAGCTGTTCGTTCTGTGCCACAGCCTG
CTGCAGCTGGCGCAGCTCATGATCTCCGGCTACCTAAAGAGCTCCATCTCCACAGTGGAGAAGCGCTTCGGCCTCTCCAGCCAGACGTCGGGGCTGCTGGCCTCC
TTCAACGAGGTGGGGAACACAGCCTTGATTGTGTTTGTGAGCTATTTTGGCAGCCGGGTGCACCGACCCCGAATGATTGGCTATGGGGCTATCCTTGTGGCCCTG
GCGGGCCTGCTCATGACTCTCCCGCACTTCATCTCGGAGCCATACCGCTACGACAACACCAGCCCTGAGGATATGCCACAGGACTTCAAGGCTTCCCTGTGCCTG
CCCACAACCTCGGCCCCAGCCTCGGCCCCCTCCAATGGCAACTGCTCAAGCTACACAGAAACCCAGCATCTGAGTGTGGTGGGGATCATGTTCGTGGCACAGACC
CTGCTGGGCGTGGGCGGGGTGCCCATTCAGCCCTTTGGCATCTCCTACATCGATGACTTTGCCCACAACAGCAACTCGCCCCTCTACCTCGGGATCCTGTTTGCA
GTGACCATGATGGGGCCAGGCCTGGCCTTTGGGCTGGGCAGCCTCATGCTGCGCCTTTATGTGGACATTAACCAGATGCCAGAAGGTGGTATCAGCCTGACCATA
AAGGACCCCCGATGGGTGGGTGCCTGGTGGCTGGGTTTCCTCATCGCTGCCGGTGCAGTGGCCCTGGCTGCCATCCCCTACTTCTTCTTCCCCAAGGAAATGCCC
AAGGAAAAACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAGACTCACCTGCCAGGAAGGGCAAGGACTCTCCCTCTAAGCAGAGCCCTGGGGAGTCC
ACGAAGAAGCAGGATGGCCTAGTCCAGATTGCACCAAACCTGACTGTGATCCAGTTCATTAAAGTCTTCCCCAGGGTGCTGCTGCAGACCCTACGCCACCCCATC
TTCCTGCTGGTGGTCCTGTCCCAGGTATGCTTGTCATCCATGGCTGCGGGCATGGCCACCTTCCTGCCCAAGTTCCTGGAGCGCCAGTTTTCCATCACAGCCTCC
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>SLCO2B1|11309|protein
MGTENTPGGKASPDPQDVRPSVFHNIKLFVLCHSLLQLAQLMISGYLKSSISTVEKRFGLSSQTSGLLASFNEVGNTALIVFVSYFGSRVHRPRMIGYGAILVAL
AGLLMTLPHFISEPYRYDNTSPEDMPQDFKASLCLPTTSAPASAPSNGNCSSYTETQHLSVVGIMFVAQTLLGVGGVPIQPFGISYIDDFAHNSNSPLYLGILFA
VTMMGPGLAFGLGSLMLRLYVDINQMPEGGISLTIKDPRWVGAWWLGFLIAAGAVALAAIPYFFFPKEMPKEKRELQFRRKVLAVTDSPARKGKDSPSKQSPGES
TKKQDGLVQIAPNLTVIQFIKVFPRVLLQTLRHPIFLLVVLSQVCLSSMAAGMATFLPKFLERQFSITASYANLLIGCLSFPSVIVGIVVGGVLVKRLHLGPVGC
GALCLLGMLLCLFFSLPLFFIGCSSHQIAGITHQTSAHPGLELSPSCMEACSCPLDGFNPVCDPSTRVEYITPCHAGCSSWVVQDALDNSQVFYTNCSCVVEGNP
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MGTENTPGGKASPDPQDVRPSVFHNIKLFVLCHSLLQLAQLMISGYLKSSISTVEKRFGLSSQTSGLLASFNEVGNTALIVFVSYFGSRVHRPRMIGYGAILVAL
AGLLMTLPHFISEPYRYDNTSPEDMPQDFKASLCLPTTSAPASAPSNGNCSSYTETQHLSVVGIMFVAQTLLGVGGVPIQPFGISYIDDFAHNSNSPLYLGILFA
VTMMGPGLAFGLGSLMLRLYVDINQMPEGGISLTIKDPRWVGAWWLGFLIAAGAVALAAIPYFFFPKEMPKEKRELQFRRKVLAVTDSPARKGKDSPSKQSPGES
TKKQDGLVQIAPNLTVIQFIKVFPRVLLQTLRHPIFLLVVLSQVCLSSMAAGMATFLPKFLERQFSITASYANLLIGCLSFPSVIVGIVVGGVLVKRLHLGPVGC
GALCLLGMLLCLFFSLPLFFIGCSSHQIAGITHQTSAHPGLELSPSCMEACSCPLDGFNPVCDPSTRVEYITPCHAGCSSWVVQDALDNSQVFYTNCSCVVEGNP
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
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 | ||||||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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