AutismKB 2.0

Evidence Details for TSPAN10


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Basic Information Top
Gene Symbol:TSPAN10 ( FLJ39607,OCSP )
Gene Full Name: tetraspanin 10
Band: 17q25.3
Quick LinksEntrez ID:83882; OMIM: NA; Uniprot ID:TSN10_HUMAN; ENSEMBL ID: ENSG00000182612; HGNC ID: 29942
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TSPAN10|83882|nucleotide
ATGGAGGAGGGGGAGAGGAGCCCCTTACTGTCCCAGGAAACTGCAGGCCAGAAGCCCCTCTCTGTGCACAGGCCACCCACCTCAGGCTGCCTAGGTCCAGTGCCC
AGGGAGGACCAGGCGGAGGCCTGGGGCTGCAGCTGCTGTCCCCCGGAGACCAAGCACCAGGCCTTGAGTGGCACCCCCAAGAAAGGACCAGCCCCTTCCCTCTCC
CCAGGGAGCAGCTGCGTCAAGTATCTGATCTTCCTCTCCAACTTCCCCTTCTCCCTGCTGGGGCTGCTGGCCCTGGCCATCGGGCTCTGGGGCCTGGCTGTCAAG
GGGTCTCTGGGAAGTGATCTGGGGGGGCCCCTGCCCGCAGACCCCATGCTGGGGCTGGCACTGGGAGGGCTGGTGGTCAGCGCAGTGAGCCTGGCTGGCTACCTG
GGCGCCCTCTGTGAGAACACCTGCCTGTTACGTGGCTTCTCTGGGGGCATCCTTGCCTTCCTGGTGCTTGAGGCCGTGGCGGGGGCCCTGGTGGTGGCCCTCTGG
GGCCCGCTGCAAGACAGCCTGGAGCACACCCTGCGTGTGGCCATCGCCCACTACCAGGACGACCCAGACCTGCGCTTCCTCCTCGACCAAGTCCAGCTCGGGCTG
AGGTGCTGCGGAGCTGCCTCCTACCAGGACTGGCAGCAGAACCTGTACTTTAACTGCAGCTCCCCCGGGGTGCAGGCCTGCAGCCTTCCCGCCTCCTGCTGCATC
GACCCCCGCGAAGATGGAGCCTCTGTCAACGACCAGTGCGGCTTCGGGGTCCTGCGCCTGGATGCGGACGCAGCTCAGAGAGTGGTGTACCTGGAGGGCTGCGGC
CCGCCGCTCCGGCGGTGGCTGCGCGCGAACCTGGCTGCCTCGGGCGGCTACGCAATCGCGGTGGTGCTGCTGCAGGGCGCGGAGCTCCTGCTGGCCGCCCGGCTA
CTCGGGGCCCTCGCTGCCCGCAGGGGGGCGGCGTACGGCCCCGGAGCGCGCGGGGAGGACCGCGCTGGCCCCCAGAGCCCCAGCCCCGGCGCCCCGCCCGCTGCC
AAGCCCGCCCGGGGCTGA
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>TSPAN10|83882|protein
MEEGERSPLLSQETAGQKPLSVHRPPTSGCLGPVPREDQAEAWGCSCCPPETKHQALSGTPKKGPAPSLSPGSSCVKYLIFLSNFPFSLLGLLALAIGLWGLAVK
GSLGSDLGGPLPADPMLGLALGGLVVSAVSLAGYLGALCENTCLLRGFSGGILAFLVLEAVAGALVVALWGPLQDSLEHTLRVAIAHYQDDPDLRFLLDQVQLGL
RCCGAASYQDWQQNLYFNCSSPGVQACSLPASCCIDPREDGASVNDQCGFGVLRLDADAAQRVVYLEGCGPPLRRWLRANLAASGGYAIAVVLLQGAELLLAARL
LGALAARRGAAYGPGARGEDRAGPQSPSPGAPPAAKPARG

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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (5)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Auranen, 2002 Finland microsatellite-based genomic screenautism 19 - 19 - 54 - -
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
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

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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