AutismKB 2.0

Annotation Detail for EEF1A2


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Basic Information Top
Gene Symbol:EEF1A2 ( EEF1AL,EF-1-alpha-2,EF1A,FLJ41696,HS1,STN,STNL )
Gene Full Name: eukaryotic translation elongation factor 1 alpha 2
Band: 20q13.33
Quick LinksEntrez ID:1917; OMIM: 602959; Uniprot ID:EF1A2_HUMAN; ENSEMBL ID: ENSG00000101210; HGNC ID: 3192
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29Phosphotyrosine.
55N6,N6,N6-trimethyllysine (By similarity).
141Phosphotyrosine.
165N6,N6,N6-trimethyllysine (By similarity).
179N6-acetyllysine.
3015-glutamyl glycerylphosphorylethanolamine
3745-glutamyl glycerylphosphorylethanolamine
439N6-acetyllysine.
Location(AA) Modifications Resource
29Phosphotyrosine.Swiss-Prot 53.0
29PhosphotyrosinePhospho.ELM 6.0
55N6,N6,N6-trimethyllysine (By similarity).Swiss-Prot 53.0
141Phosphotyrosine.Swiss-Prot 53.0
141PhosphotyrosinePhospho.ELM 6.0
165N6,N6,N6-trimethyllysine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
18O-linkedHMM predict
23O-linkedHMM predict
23Phosphothreonine(PKC)HMM predict
162Phosphotyrosine(SRC)HMM predict
163Phosphoserine(CK1)HMM predict
167Phosphotyrosine(INSR)HMM predict
167Phosphotyrosine(SRC)HMM predict
219MethyllysineHMM predict
222N-linkedHMM predict
242Phosphothreonine(PKA)HMM predict
284N-linkedHMM predict
416Phosphoserine(ATM)HMM predict
444MethyllysineHMM predict
460LysineHMM predict
463LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001958
  • Location:chr20 61589809-61600948
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 61603476 61603781 305 2680
H3K27me3 colorectalcancer 61609778 61610013 235 8947
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 61584271 61584755 484 5297
TFAP2C MCF7GSE21234 61583204 61584466 1262 5975
hScc1 BcellGSE12603 61584298 61585338 1040 4992
hScc1 BcellGSE12603 61585664 61586531 867 3712
hScc1 BcellGSE12603 61586766 61587260 494 2797
hScc1 BcellGSE12603 61588550 61589483 933 793
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 61597975 61598185 210 0
CTCF CD4SISSRdata 61597975 61598185 210 0
CTCF G2GSE9613 61594797 61595064 267 0
CTCF G2GSE9613 61597635 61598565 930 0
CTCF G2GSE9613 61600587 61601215 628 0
TFAP2C MCF7GSE21234 61599646 61600474 828 0
hScc1 BcellGSE12603 61592198 61593135 937 0
hScc1 BcellGSE12603 61594797 61598681 3884 0
hScc1 BcellGSE12603 61599039 61599379 340 0
hScc1 BcellGSE12603 61600065 61601797 1732 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