AutismKB 2.0

Evidence Details for SLC26A3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC26A3 ( CLD,DRA )
Gene Full Name: solute carrier family 26, member 3
Band: 7q22.3-q31.1
Quick LinksEntrez ID:1811; OMIM: 126650; Uniprot ID:S26A3_HUMAN; ENSEMBL ID: ENSG00000091138; HGNC ID: 3018
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC26A3|1811|nucleotide
ATGATTGAACCCTTTGGGAATCAGTATATTGTGGCCAGGCCAGTGTATTCTACAAATGCTTTTGAGGAAAATCATAAAAAGACAGGAAGACATCATAAGACATTT
CTGGATCATCTCAAAGTGTGTTGTAGCTGTTCCCCACAAAAGGCCAAGAGAATTGTCCTCTCTTTGTTCCCCATAGCATCTTGGTTGCCAGCATACCGGCTTAAA
GAATGGTTGCTCAGTGATATTGTTTCTGGTATCAGCACAGGGATTGTGGCCGTACTACAAGGTTTAGCATTTGCTCTGCTGGTCGACATTCCCCCAGTCTATGGG
TTGTATGCATCCTTTTTCCCAGCCATAATCTACCTTTTCTTCGGCACTTCCAGACACATATCCGTGGGTCCGTTTCCGATTCTGAGTATGATGGTGGGACTAGCA
GTTTCAGGAGCAGTTTCAAAAGCAGTCCCAGATCGCAATGCAACTACTTTGGGATTGCCTAACAACTCGAATAATTCTTCACTACTGGATGACGAGAGGGTGAGG
GTGGCGGCGGCGGCATCAGTCACAGTGCTTTCTGGAATCATCCAGTTGGCTTTTGGGATTCTGCGGATTGGATTTGTAGTGATATACCTGTCTGAGTCCCTCATC
AGTGGCTTCACTACTGCTGCTGCTGTTCATGTTTTGGTTTCCCAACTCAAATTCATTTTTCAGTTGACAGTCCCGTCACACACTGATCCAGTTTCAATTTTCAAA
GTACTATACTCTGTATTCTCACAAATAGAGAAGACTAATATTGCAGACCTGGTGACAGCTCTGATTGTCCTTTTGGTTGTATCCATTGTTAAAGAAATAAATCAG
CGCTTCAAAGACAAACTTCCAGTGCCCATTCCAATCGAATTCATTATGACCGTGATTGCAGCAGGTGTATCCTACGGCTGTGACTTTAAAAACAGGTTTAAAGTG
GCTGTGGTTGGGGACATGAATCCTGGATTTCAGCCCCCTATTACACCTGACGTGGAGACTTTCCAAAACACCGTAGGAGATTGCTTCGGCATCGCAATGGTTGCA
TTTGCAGTGGCCTTTTCAGTTGCCAGCGTCTATTCCCTCAAATACGATTATCCACTTGATGGCAATCAGGAGTTAATAGCCTTGGGACTGGGTAACATAGTCTGT
Show »

>SLC26A3|1811|protein
MIEPFGNQYIVARPVYSTNAFEENHKKTGRHHKTFLDHLKVCCSCSPQKAKRIVLSLFPIASWLPAYRLKEWLLSDIVSGISTGIVAVLQGLAFALLVDIPPVYG
LYASFFPAIIYLFFGTSRHISVGPFPILSMMVGLAVSGAVSKAVPDRNATTLGLPNNSNNSSLLDDERVRVAAAASVTVLSGIIQLAFGILRIGFVVIYLSESLI
SGFTTAAAVHVLVSQLKFIFQLTVPSHTDPVSIFKVLYSVFSQIEKTNIADLVTALIVLLVVSIVKEINQRFKDKLPVPIPIEFIMTVIAAGVSYGCDFKNRFKV
AVVGDMNPGFQPPITPDVETFQNTVGDCFGIAMVAFAVAFSVASVYSLKYDYPLDGNQELIALGLGNIVCGVFRGFAGSTALSRSAVQESTGGKTQIAGLIGAII
VLIVVLAIGFLLAPLQKSVLAALALGNLKGMLMQFAEIGRLWRKDKYDCLIWIMTFIFTIVLGLGLGLAASVAFQLLTIVFRTQFPKCSTLANIGRTNIYKNKKD
Show »

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
Score (No. of Studies) No 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (3)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
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
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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