AutismKB 2.0

Evidence Details for SLCO1B1


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Basic Information Top
Gene Symbol:SLCO1B1 ( LST-1,LST1,MGC133282,OATP-C,OATP1B1,OATP2,OATPC,SLC21A6 )
Gene Full Name: solute carrier organic anion transporter family, member 1B1
Band: 12p12.1
Quick LinksEntrez ID:10599; OMIM: 604843; Uniprot ID:SO1B1_HUMAN; ENSEMBL ID: ENSG00000134538; HGNC ID: 10959
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLCO1B1|10599|nucleotide
ATGGACCAAAATCAACATTTGAATAAAACAGCAGAGGCACAACCTTCAGAGAATAAGAAAACAAGATACTGCAATGGATTGAAGATGTTCTTGGCAGCTCTGTCA
CTCAGCTTTATTGCTAAGACACTAGGTGCAATTATTATGAAAAGTTCCATCATTCATATAGAACGGAGATTTGAGATATCCTCTTCTCTTGTTGGTTTTATTGAC
GGAAGCTTTGAAATTGGAAATTTGCTTGTGATTGTATTTGTGAGTTACTTTGGATCCAAACTACATAGACCAAAGTTAATTGGAATCGGTTGTTTCATTATGGGA
ATTGGAGGTGTTTTGACTGCTTTGCCACATTTCTTCATGGGATATTACAGGTATTCTAAAGAAACTAATATCAATTCATCAGAAAATTCAACATCGACCTTATCC
ACTTGTTTAATTAATCAAATTTTATCACTCAATAGAGCATCACCTGAGATAGTGGGAAAAGGTTGTTTAAAGGAATCTGGGTCATACATGTGGATATATGTGTTC
ATGGGTAATATGCTTCGTGGAATAGGGGAGACTCCCATAGTACCATTGGGGCTTTCTTACATTGATGATTTCGCTAAAGAAGGACATTCTTCTTTGTATTTAGGT
ATATTGAATGCAATAGCAATGATTGGTCCAATCATTGGCTTTACCCTGGGATCTCTGTTTTCTAAAATGTACGTGGATATTGGATATGTAGATCTAAGCACTATC
AGGATAACTCCTACTGATTCTCGATGGGTTGGAGCTTGGTGGCTTAATTTCCTTGTGTCTGGACTATTCTCCATTATTTCTTCCATACCATTCTTTTTCTTGCCC
CAAACTCCAAATAAACCACAAAAAGAAAGAAAAGCTTCACTGTCTTTGCATGTGCTGGAAACAAATGATGAAAAGGATCAAACAGCTAATTTGACCAATCAAGGA
AAAAATATTACCAAAAATGTGACTGGTTTTTTCCAGTCTTTTAAAAGCATCCTTACTAATCCCCTGTATGTTATGTTTGTGCTTTTGACGTTGTTACAAGTAAGC
AGCTATATTGGTGCTTTTACTTATGTCTTCAAATACGTAGAGCAACAGTATGGTCAGCCTTCATCTAAGGCTAACATCTTATTGGGAGTCATAACCATACCTATT
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>SLCO1B1|10599|protein
MDQNQHLNKTAEAQPSENKKTRYCNGLKMFLAALSLSFIAKTLGAIIMKSSIIHIERRFEISSSLVGFIDGSFEIGNLLVIVFVSYFGSKLHRPKLIGIGCFIMG
IGGVLTALPHFFMGYYRYSKETNINSSENSTSTLSTCLINQILSLNRASPEIVGKGCLKESGSYMWIYVFMGNMLRGIGETPIVPLGLSYIDDFAKEGHSSLYLG
ILNAIAMIGPIIGFTLGSLFSKMYVDIGYVDLSTIRITPTDSRWVGAWWLNFLVSGLFSIISSIPFFFLPQTPNKPQKERKASLSLHVLETNDEKDQTANLTNQG
KNITKNVTGFFQSFKSILTNPLYVMFVLLTLLQVSSYIGAFTYVFKYVEQQYGQPSSKANILLGVITIPIFASGMFLGGYIIKKFKLNTVGIAKFSCFTAVMSLS
FYLLYFFILCENKSVAGLTMTYDGNNPVTSHRDVPLSYCNSDCNCDESQWEPVCGNNGITYISPCLAGCKSSSGNKKPIVFYNCSCLEVTGLQNRNYSAHLGECP
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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 (3) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top