AutismKB 2.0

Annotation Detail for EFTUD2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EFTUD2 ( DKFZp686E24196,FLJ44695,KIAA0031,Snrp116,Snu114,U5-116KD )
Gene Full Name: elongation factor Tu GTP binding domain containing 2
Band: 17q21.31
Quick LinksEntrez ID:9343; OMIM: 603892; Uniprot ID:U5S1_HUMAN; ENSEMBL ID: ENSG00000108883; HGNC ID: 30858
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
19Phosphoserine.
30Phosphothreonine.
86Phosphothreonine.
944Phosphoserine.
Location(AA) Modifications Resource
19Phosphoserine.Swiss-Prot 53.0
19PhosphoserinePhospho.ELM 6.0
30PhosphothreoninePhospho.ELM 6.0
86Phosphothreonine.Swiss-Prot 53.0
86PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
6Phosphotyrosine(Syk)HMM predict
12Phosphotyrosine(INSR)HMM predict
19Phosphoserine(CK1)HMM predict
65SulfotyrosineHMM predict
65Phosphotyrosine(Syk)HMM predict
66Phosphotyrosine(EGFR)HMM predict
73Phosphotyrosine(SRC)HMM predict
99Phosphothreonine(PKC)HMM predict
131N-linkedHMM predict
210N-linkedHMM predict
301Phosphoserine(MAPK)HMM predict
311Phosphoserine(CDK)HMM predict
312Phosphoserine(ATM)HMM predict
315Phosphoserine(IKK)HMM predict
357Phosphothreonine(PKA)HMM predict
357Phosphothreonine(PKC)HMM predict
362O-linkedHMM predict
364O-linkedHMM predict
440Phosphoserine(MAPK)HMM predict
454PhosphothreonineHMM predict
513N-linkedHMM predict
514Phosphotyrosine(INSR)HMM predict
583N-linkedHMM predict
611N-linkedHMM predict
678Phosphothreonine(CDC2)HMM predict
832Phosphotyrosine(Jak)HMM predict
866Phosphoserine(CDC2)HMM predict
870O-linkedHMM predict
899Phosphoserine(ATM)HMM predict
937Phosphothreonine(PKC)HMM predict
957MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004247
  • Location:chr17 40283804-40332288
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 40332072 40332570 498 33
ETS1 JurkatGSE17954 40331772 40332971 1199 83
KLF4 hESGSE17917 40332264 40332574 310 131
hScc1 BcellGSE12603 40332041 40332827 786 146
p130 SenescentGSE19898 40331811 40332920 1109 77
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 40298019 40298412 393 0
CTCF CD4GSE12889 40311595 40311862 267 0
CTCF CD4GSE12889 40327672 40327784 112 0
CTCF CD4SISSRdata 40298019 40298412 393 0
CTCF CD4SISSRdata 40311595 40311862 267 0
CTCF CD4SISSRdata 40327672 40327784 112 0
CTCF G2GSE9613 40297535 40298294 759 0
H3K4me3 colorectalcancer 40331564 40332072 508 0
H3ac HepG2E 40331423 40332258 835 0
Nanog ESGSE20650 40325205 40325513 308 0
Nanog hESGSE18292 40325225 40325586 361 0
PHF8 Hs68plusFBSGSE20725 40331475 40332797 1322 0
Sox2 hESGSE18292 40325296 40325491 195 0
TAF k562GSE8489 40331636 40332222 586 0
USF1 HepG2E 40321498 40322591 1093 0
USF2 HepG2E 40331423 40332072 649 0
hScc1 BcellGSE12603 40298011 40298336 325 0
hScc1 CdLSGSE12603 40297868 40298374 506 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
11246 mRNA CLST11240 chr17 40280804 40283370 145 mRNA U5-116KD chr17 40283180 40332355Sense/Antisense (SA) pairs

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved