AutismKB 2.0

Variant Details for TUFM


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Basic Information Top
Gene Symbol:TUFM ( COXPD4,EF-TuMT,EFTU,P43 )
Gene Full Name: Tu translation elongation factor, mitochondrial
Band: 16p11.2
Quick LinksEntrez ID:7284; OMIM: 602389; Uniprot ID:EFTU_HUMAN; ENSEMBL ID: ENSG00000178952; HGNC ID: 12420
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 12 0 0 0 0 0 12
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000260 16 16p11.2 27692499 34542499 6850000 gain external link Finelli, 2004
AutCNV0000152 16 16p11.2 27692499 34542499 6850000 gain external link Marshall, 2008
AutCNV0000018 16 16p11.2 27692499 34542499 6850000 loss external link Weiss, 2008
AutCNV0000017 16 16p11.2 27692499 34542499 6850000 gain external link Weiss, 2008
AutCNV0000186 16 16p11.2 27692499 34542499 6850000 gain external link Marshall, 2008
AutCNV0000370 16 16p11.2 27692499 34542499 6850000 external link Zwaag, 2009
AutCNV0000369 16 16p11.2 27692499 34542499 6850000 external link Zwaag, 2009
AutCNV0001341 16 16p11.2 28822773 29043450 220677 gain external link Pinto, 2010
AutCNV0004334 16 16p11.2 28837515 29043450 205935 loss external link Sanders, 2011
AutCNV0005849 16 16p11.2 28660952 28951376 290424 loss external link Egger G, 2014
AutCNV0004826 16 16p12.2p11.2 21306156 29053253 7747097 loss external link Okamoto N, 2014
AutCNV0004680 16 16p11.2 28819029 29051191 232162 loss external link Gazzellone MJ, 2014
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
No related data!
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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