AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Location(AA) Modification
79N6-acetyllysine.
88N6-acetyllysine.
256N6-acetyllysine.
418N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
72O-linkedHMM predict
92Phosphotyrosine(INSR)HMM predict
92Phosphotyrosine(Syk)HMM predict
266Phosphotyrosine(SRC)HMM predict
267Phosphoserine(SRC)HMM predict
423Phosphothreonine(PKC)HMM predict
428N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003321
  • Location:chr16 28761612-28765143
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28765114 28765547 433 187
CTCF CD4SISSRdata 28765114 28765547 433 187
CTCF G2GSE9613 28765256 28766029 773 499
ER Fulvestrant-MCF7GSE14664 28771354 28771399 45 6233
PHF8 Hs68minusFBSGSE20725 28764547 28766141 1594 201
TFAP2C MCF7GSE21234 28764859 28765442 583 7
VDR GM10861-stimGSE22484 28764102 28766285 2183 50
p130 shRbQuiescentGSE19898 28765462 28765917 455 546
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 28764204 28765986 1782 0
FOXA1 MCF7GSE15244 28763600 28764456 856 0
GABP k562GSE8489 28762980 28765224 2244 0
H3ac HepG2E 28763092 28764725 1633 0
PHF8 HeLaGSE20725 28764269 28765995 1726 0
TAF HelaGSE8489 28763564 28764526 962 0
VDR GM10861-UnstimGSE22484 28764024 28766014 1990 0
hScc1 BcellGSE12603 28761465 28761855 390 0
hScc1 BcellGSE12603 28764725 28765110 385 0
Validated miRNA targets Top
Cis-Nats regulation Top

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