AutismKB 2.0

Evidence Details for SLCO1B3


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Basic Information Top
Gene Symbol:SLCO1B3 ( LST-3TM13,LST3,OATP1B3,OATP8,SLC21A8 )
Gene Full Name: solute carrier organic anion transporter family, member 1B3
Band: 12p12.2
Quick LinksEntrez ID:28234; OMIM: 605495; Uniprot ID:SO1B3_HUMAN; ENSEMBL ID: ENSG00000111700; HGNC ID: 10961
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLCO1B3|28234|nucleotide
ATGGACCAACATCAACATTTGAATAAAACAGCAGAGTCAGCATCTTCAGAGAAAAAGAAAACAAGACGCTGCAATGGATTCAAGATGTTCTTGGCAGCCCTGTCA
TTCAGCTATATTGCTAAAGCACTAGGTGGAATCATTATGAAAATTTCCATCACTCAAATAGAAAGGAGATTTGACATATCCTCTTCTCTTGCTGGTTTAATTGAT
GGAAGCTTTGAAATTGGAAATTTGCTTGTGATTGTATTTGTAAGTTACTTTGGATCTAAACTACACAGACCGAAGTTAATTGGAATTGGTTGTCTCCTTATGGGA
ACTGGAAGTATTTTGACATCTTTACCACATTTCTTCATGGGATATTATAGGTATTCTAAAGAAACCCATATTAATCCATCAGAAAATTCAACATCAAGTTTATCA
ACCTGTTTAATTAATCAAACCTTATCATTCAATGGAACATCACCTGAGATAGTAGAAAAAGATTGTGTAAAGGAATCTGGGTCACACATGTGGATCTATGTCTTC
ATGGGGAATATGCTTCGTGGCATAGGGGAAACCCCCATAGTACCATTGGGGATTTCATACATTGATGATTTTGCAAAAGAAGGACATTCTTCCTTGTATTTAGGT
AGTTTGAATGCAATAGGAATGATTGGTCCAGTCATTGGCTTTGCACTGGGATCTCTGTTTGCTAAAATGTACGTGGATATTGGATATGTAGATCTGAGCACTATC
AGAATAACTCCTAAGGACTCTCGTTGGGTTGGAGCTTGGTGGCTTGGTTTCCTTGTGTCTGGACTATTTTCCATTATTTCTTCCATACCATTTTTTTTCTTGCCG
AAAAATCCAAATAAACCACAAAAAGAAAGAAAAATTTCACTATCATTGCATGTGCTGAAAACAAATGATGATAGAAATCAAACAGCTAATTTGACCAACCAAGGA
AAAAATGTTACCAAAAATGTGACTGGTTTTTTCCAGTCTTTGAAAAGCATCCTTACCAATCCCCTGTATGTTATATTTCTGCTTTTGACATTGTTACAAGTAAGC
AGCTTTATTGGTTCTTTTACTTACGTCTTTAAATATATGGAGCAACAGTACGGTCAGTCTGCATCTCATGCTAACTTTTTGTTGGGAATCATAACCATTCCTACG
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>SLCO1B3|28234|protein
MDQHQHLNKTAESASSEKKKTRRCNGFKMFLAALSFSYIAKALGGIIMKISITQIERRFDISSSLAGLIDGSFEIGNLLVIVFVSYFGSKLHRPKLIGIGCLLMG
TGSILTSLPHFFMGYYRYSKETHINPSENSTSSLSTCLINQTLSFNGTSPEIVEKDCVKESGSHMWIYVFMGNMLRGIGETPIVPLGISYIDDFAKEGHSSLYLG
SLNAIGMIGPVIGFALGSLFAKMYVDIGYVDLSTIRITPKDSRWVGAWWLGFLVSGLFSIISSIPFFFLPKNPNKPQKERKISLSLHVLKTNDDRNQTANLTNQG
KNVTKNVTGFFQSLKSILTNPLYVIFLLLTLLQVSSFIGSFTYVFKYMEQQYGQSASHANFLLGIITIPTVATGMFLGGFIIKKFKLSLVGIAKFSFLTSMISFL
FQLLYFPLICESKSVAGLTLTYDGNNSVASHVDVPLSYCNSECNCDESQWEPVCGNNGITYLSPCLAGCKSSSGIKKHTVFYNCSCVEVTGLQNRNYSAHLGECP
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 1 (1) 0 (0) 10 (6)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top