AutismKB 2.0

Evidence Details for SLC35A1


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Basic Information Top
Gene Symbol:SLC35A1 ( CDG2F,CMPST,CST,FLJ76955,hCST )
Gene Full Name: solute carrier family 35 (CMP-sialic acid transporter), member A1
Band: 6q15
Quick LinksEntrez ID:10559; OMIM: 605634; Uniprot ID:S35A1_HUMAN; ENSEMBL ID: ENSG00000164414; HGNC ID: 11021
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC35A1|10559|nucleotide
ATGGCTGCCCCGAGAGACAATGTCACTTTATTATTCAAGTTATACTGCTTGGCAGTGATGACCCTGATGGCTGCAGTCTATACCATAGCTTTAAGATACACAAGG
ACATCAGACAAAGAACTCTACTTTTCAACCACAGCCGTGTGTATCACAGAAGTTATAAAGTTATTGCTAAGTGTGGGAATTTTAGCTAAAGAAACTGGTAGTCTG
GGTAGATTCAAAGCATCTTTAAGAGAAAATGTCTTGGGGAGCCCCAAGGAACTGTTGAAGTTAAGTGTGCCATCGTTAGTGTATGCTGTTCAGAACAACATGGCT
TTCCTAGCTCTTAGCAATCTGGATGCAGCAGTGTACCAGGTGACCTACCAGTTGAAGATTCCGTGTACTGCTTTATGCACTGTTTTAATGTTAAACCGGACACTC
AGCAAATTACAGTGGGTTTCAGTTTTTATGCTGTGTGCTGGAGTTACGCTTGTACAGTGGAAACCAGCCCAAGCTACAAAAGTGGTGGTGGAACAAAATCCATTA
TTAGGGTTTGGCGCTATAGCTATTGCTGTATTGTGCTCAGGATTTGCAGTTCTTGCAAGTGTTGGTGGCCTCTACACTTCTGTTGTGGTTAAGTACACAGACAAC
ATCATGAAAGGCTTTTCTGCAGCAGCGGCCATTGTCCTTTCCACCATTGCTTCAGTAATGCTGTTTGGATTACAGATAACACTCACCTTTGCCCTGGGTACTCTT
CTTGTATGTGTTTCCATATATCTCTATGGATTACCCAGACAAGACACTACATCCATCCAACAAGGAGAAACAGCTTCAAAGGAGAGAGTTATTGGTGTGTGA



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>SLC35A1|10559|protein
MAAPRDNVTLLFKLYCLAVMTLMAAVYTIALRYTRTSDKELYFSTTAVCITEVIKLLLSVGILAKETGSLGRFKASLRENVLGSPKELLKLSVPSLVYAVQNNMA
FLALSNLDAAVYQVTYQLKIPCTALCTVLMLNRTLSKLQWVSVFMLCAGVTLVQWKPAQATKVVVEQNPLLGFGAIAIAVLCSGFAVLASVGGLYTSVVVKYTDN
IMKGFSAAAAIVLSTIASVMLFGLQITLTFALGTLLVCVSIYLYGLPRQDTTSIQQGETASKERVIGV


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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 (2) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (4)
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
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Quintela I, 2015 - ---autistic disorder - - - - 1 - 1
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Ma, 2007 USA SNP-based genomic screenautism 26 - 26 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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