AutismKB 2.0

Evidence Details for TMEM85


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Basic Information Top
Gene Symbol:TMEM85 ( FLJ90746,MGC24415,PIG17 )
Gene Full Name: transmembrane protein 85
Band: 15q14
Quick LinksEntrez ID:51234; OMIM: NA; Uniprot ID:TMM85_HUMAN; ENSEMBL ID: ENSG00000128463; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM85|51234|nucleotide
ATGACGGCCCAGGGGGGCCTGGTGGCTAACCGAGGCCGGCGCTTCAAGTGGGCCATTGAGCTAAGCGGGCCTGGAGGAGGCAGCAGGGGTCGAAGTGACCGGGGC
AGTGGCCAGGGAGACTCGCTCTACCCAGTCGGTTACTTGGACAAGCAAGTGCCTGATACCAGCGTGCAAGAGACAGACCGGATCCTGGTGGAGAAGCGCTGCTGG
GACATCGCCTTGGGTCCCCTCAAACAGATTCCCATGAATCTCTTCATCATGTACATGGCAGGCAATACTATCTCCATCTTCCCTACTATGATGGTGTGTATGATG
GCCTGGCGACCCATTCAGGCACTTATGGCCATTTCAGCCACTTTCAAGATGTTAGAAAGTTCAAGCCAGAAGTTTCTTCAGGGTTTGGTCTATCTCATTGGGAAC
CTGATGGGTTTGGCATTGGCTGTTTACAAGTGCCAGTCCATGGGACTGTTACCTACACATGCATCGGATTGGTTAGCCTTCATTGAGCCCCCTGAGAGAATGGAG
TTCAGTGGTGGAGGACTGCTTTTGTGA





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>TMEM85|51234|protein
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMAGNTISIFPTMMVCMM
AWRPIQALMAISATFKMLESSSQKFLQGLVYLIGNLMGLALAVYKCQSMGLLPTHASDWLAFIEPPERMEFSGGGLLL



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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 (3) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (4)
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
Philippe, 1999 Sweden, France, Norway, Italy, Austria, Belgium, U microsatellite-based genomic screenautism 51 - 51 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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
Reference Case Number Family Number de novo Number Title
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
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