AutismKB 2.0

Evidence Details for SLCO3A1


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Basic Information Top
Gene Symbol:SLCO3A1 ( FLJ40478,OATP-D,OATP3A1,OATPD,SLC21A11 )
Gene Full Name: solute carrier organic anion transporter family, member 3A1
Band: 15q26.1
Quick LinksEntrez ID:28232; OMIM: 612435; Uniprot ID:SO3A1_HUMAN; ENSEMBL ID: ENSG00000176463; HGNC ID: 10952
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLCO3A1|28232|nucleotide
ATGCAGGGGAAGAAGCCGGGCGGTTCGTCGGGCGGCGGCCGGAGCGGCGAGCTGCAGGGGGACGAGGCGCAGAGGAACAAGAAAAAGAAAAAGAAGGTGTCCTGC
TTTTCCAACATCAAGATCTTCCTGGTGTCCGAGTGCGCCCTGATGCTGGCGCAGGGCACGGTGGGCGCCTACCTGGTGAGCGTCCTGACCACCCTGGAGCGTAGG
TTCAACCTGCAGAGCGCTGACGTGGGTGTGATCGCTAGCAGCTTCGAGATCGGGAACCTGGCGCTCATCCTCTTCGTGAGCTACTTCGGGGCACGCGGGCACCGG
CCGCGCCTGATCGGCTGCGGCGGCATCGTCATGGCGCTGGGCGCGCTGCTGTCGGCGCTGCCCGAGTTCCTGACCCACCAGTACAAGTACGAGGCGGGCGAGATC
CGCTGGGGCGCCGAGGGCCGCGACGTCTGCGCAGCCAACGGCTCGGGCGGCGACGAGGGGCCCGACCCCGACCTCATCTGCCGCAACCGGACGGCTACCAACATG
ATGTACTTGCTGCTCATTGGGGCCCAGGTGCTCCTGGGCATCGGTGCTACCCCTGTGCAGCCCCTGGGCGTCTCCTACATCGACGACCACGTGCGGAGGAAGGAC
TCCTCGCTCTATATAGGAATCCTGTTCACGATGCTGGTATTTGGACCAGCCTGCGGGTTTATCCTGGGCTCTTTCTGTACCAAAATCTACGTGGATGCGGTCTTC
ATTGACACAAGTAACCTGGACATCACTCCGGACGACCCCCGCTGGATCGGAGCCTGGTGGGGTGGCTTTCTGCTCTGCGGTGCCTTACTCTTCTTCTCTTCCCTC
TTGATGTTTGGGTTTCCACAGTCCCTGCCCCCGCACTCAGAGCCCGCCATGGAAAGCGAGCAGGCCATGCTCTCCGAAAGAGAATACGAGAGACCCAAGCCCAGC
AACGGGGTCCTGAGGCACCCCCTGGAGCCAGACAGCAGTGCCTCCTGTTTCCAGCAGCTGAGAGTGATCCCGAAGGTCACCAAGCACCTGCTCTCAAACCCTGTG
TTCACCTGCATCATCCTGGCCGCCTGCATGGAGATTGCAGTGGTGGCTGGCTTCGCTGCCTTTTTGGGGAAGTACCTGGAGCAGCAGTTTAACCTCACCACCTCT
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>SLCO3A1|28232|protein
MQGKKPGGSSGGGRSGELQGDEAQRNKKKKKKVSCFSNIKIFLVSECALMLAQGTVGAYLVSVLTTLERRFNLQSADVGVIASSFEIGNLALILFVSYFGARGHR
PRLIGCGGIVMALGALLSALPEFLTHQYKYEAGEIRWGAEGRDVCAANGSGGDEGPDPDLICRNRTATNMMYLLLIGAQVLLGIGATPVQPLGVSYIDDHVRRKD
SSLYIGILFTMLVFGPACGFILGSFCTKIYVDAVFIDTSNLDITPDDPRWIGAWWGGFLLCGALLFFSSLLMFGFPQSLPPHSEPAMESEQAMLSEREYERPKPS
NGVLRHPLEPDSSASCFQQLRVIPKVTKHLLSNPVFTCIILAACMEIAVVAGFAAFLGKYLEQQFNLTTSSANQLLGMTAIPCACLGIFLGGLLVKKLSLSALGA
IRMAMLVNLVSTACYVSFLFLGCDTGPVAGVTVPYGNSTAPGSALDPYSPCNNNCECQTDSFTPVCGADGITYLSACFAGCNSTNLTGCACLTTVPAENATVVPG
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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 (1) 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Risch, 1999 USA microsatellite-based genomic screenPDD 90 - 90 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Doan RN, 2016 - ---ASD - - - - -
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018