AutismKB 2.0

Evidence Details for SLCO2B1


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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 LinksEntrez 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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>SLCO2B1|11309|protein
MGTENTPGGKASPDPQDVRPSVFHNIKLFVLCHSLLQLAQLMISGYLKSSISTVEKRFGLSSQTSGLLASFNEVGNTALIVFVSYFGSRVHRPRMIGYGAILVAL
AGLLMTLPHFISEPYRYDNTSPEDMPQDFKASLCLPTTSAPASAPSNGNCSSYTETQHLSVVGIMFVAQTLLGVGGVPIQPFGISYIDDFAHNSNSPLYLGILFA
VTMMGPGLAFGLGSLMLRLYVDINQMPEGGISLTIKDPRWVGAWWLGFLIAAGAVALAAIPYFFFPKEMPKEKRELQFRRKVLAVTDSPARKGKDSPSKQSPGES
TKKQDGLVQIAPNLTVIQFIKVFPRVLLQTLRHPIFLLVVLSQVCLSSMAAGMATFLPKFLERQFSITASYANLLIGCLSFPSVIVGIVVGGVLVKRLHLGPVGC
GALCLLGMLLCLFFSLPLFFIGCSSHQIAGITHQTSAHPGLELSPSCMEACSCPLDGFNPVCDPSTRVEYITPCHAGCSSWVVQDALDNSQVFYTNCSCVVEGNP
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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) 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 microarrayASD - - - - 396 5023 5419
Linkage Studies Top