AutismKB 2.0

Evidence Details for TMEM106B


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Basic Information Top
Gene Symbol:TMEM106B ( FLJ11273,MGC33727 )
Gene Full Name: transmembrane protein 106B
Band: 7p21.3
Quick LinksEntrez ID:54664; OMIM: 613413; Uniprot ID:T106B_HUMAN; ENSEMBL ID: ENSG00000106460; HGNC ID: 22407
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM106B|54664|nucleotide
ATGGGAAAGTCTCTTTCTCATTTGCCTTTGCATTCAAGCAAAGAAGATGCTTATGATGGAGTCACATCTGAAAACATGAGGAATGGACTGGTTAATAGTGAAGTC
CATAATGAAGATGGAAGAAATGGAGATGTCTCTCAGTTTCCATATGTGGAATTTACAGGAAGAGATAGTGTCACCTGCCCTACTTGTCAGGGAACAGGAAGAATT
CCTAGGGGGCAAGAAAACCAACTGGTGGCATTGATTCCATATAGTGATCAGAGATTAAGGCCAAGAAGAACAAAGCTGTATGTGATGGCTTCTGTGTTTGTCTGT
CTACTCCTTTCTGGATTGGCTGTGTTTTTCCTTTTCCCTCGCTCTATCGACGTGAAATACATTGGTGTAAAATCAGCCTATGTCAGTTATGATGTTCAGAAGCGT
ACAATTTATTTAAATATCACAAACACACTAAATATAACAAACAATAACTATTACTCTGTCGAAGTTGAAAACATCACTGCCCAAGTTCAATTTTCAAAAACAGTT
ATTGGAAAGGCACGCTTAAACAACATAACCATTATTGGTCCACTTGATATGAAACAAATTGATTACACAGTACCTACCGTTATAGCAGAGGAAATGAGTTATATG
TATGATTTCTGTACTCTGATATCCATCAAAGTGCATAACATAGTACTCATGATGCAAGTTACTGTGACAACAACATACTTTGGCCACTCTGAACAGATATCCCAG
GAGAGGTATCAGTATGTCGACTGTGGAAGAAACACAACTTATCAGTTGGGGCAGTCTGAATATTTAAATGTACTTCAGCCACAACAGTAA



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>TMEM106B|54664|protein
MGKSLSHLPLHSSKEDAYDGVTSENMRNGLVNSEVHNEDGRNGDVSQFPYVEFTGRDSVTCPTCQGTGRIPRGQENQLVALIPYSDQRLRPRRTKLYVMASVFVC
LLLSGLAVFFLFPRSIDVKYIGVKSAYVSYDVQKRTIYLNITNTLNITNNNYYSVEVENITAQVQFSKTVIGKARLNNITIIGPLDMKQIDYTVPTVIAEEMSYM
YDFCTLISIKVHNIVLMMQVTVTTTYFGHSEQISQERYQYVDCGRNTTYQLGQSEYLNVLQPQQ


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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
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
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
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