AutismKB 2.0

Evidence Details for TMEM87A


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Basic Information Top
Gene Symbol:TMEM87A ( DKFZp564G2022 )
Gene Full Name: transmembrane protein 87A
Band: 15q15.1
Quick LinksEntrez ID:25963; OMIM: NA; Uniprot ID:TM87A_HUMAN; ENSEMBL ID: ENSG00000103978; HGNC ID: 24522
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM87A|25963|nucleotide
ATGGCGGCGGCTGCGTGGCTTCAGGTGTTGCCTGTCATTCTTCTGCTTCTGGGAGCTCACCCGTCACCACTGTCGTTTTTCAGTGCGGGACCGGCAACCGTAGCT
GCTGCCGACCGGTCCAAATGGCACATTCCGATACCGTCGGGGAAAAATTATTTTAGTTTTGGAAAGATCCTCTTCAGAAATACCACTATCTTCCTGAAGTTTGAT
GGAGAACCTTGTGACCTGTCTTTGAATATAACCTGGTATCTGAAAAGCGCTGATTGTTACAATGAAATCTATAACTTCAAGGCAGAAGAAGTAGAGTTGTATTTG
GAAAAACTTAAGGAAAAAAGAGGCTTGTCTGGGAAATATCAAACATCATCAAAATTGTTCCAGAACTGCAGTGAACTCTTTAAAACACAGACCTTTTCTGGAGAT
TTTATGCATCGACTGCCTCTTTTAGGAGAAAAACAGGAGGCTAAGGAGAATGGAACAAACCTTACCTTTATTGGAGACAAAACCATTCAGATGCCTTTCTTGAAG
AAACATTTCTTGGATTGTTGA





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>TMEM87A|25963|protein
MAAAAWLQVLPVILLLLGAHPSPLSFFSAGPATVAAADRSKWHIPIPSGKNYFSFGKILFRNTTIFLKFDGEPCDLSLNITWYLKSADCYNEIYNFKAEEVELYL
EKLKEKRGLSGKYQTSSKLFQNCSELFKTQTFSGDFMHRLPLLGEKQEAKENGTNLTFIGDKTIQMPFLKKHFLDC



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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 (0) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 3 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
NGS Other Studies Top
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