AutismKB 2.0

Annotation Detail for EIF2AK1


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Basic Information Top
Gene Symbol:EIF2AK1 ( HCR,HRI,KIAA1369 )
Gene Full Name: eukaryotic translation initiation factor 2-alpha kinase 1
Band: 7p22.1
Quick LinksEntrez ID:27102; OMIM: NA; Uniprot ID:E2AK1_HUMAN; ENSEMBL ID: ENSG00000086232; HGNC ID: 24921
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
6Phosphoserine.
258Phosphoserine.
274Phosphoserine (By similarity).
275Phosphoserine.
276Phosphoserine.
277Phosphoserine.
278Phosphoserine.
295Phosphoserine.
486Phosphothreonine; by autocatalysis (By
488Phosphothreonine; by autocatalysis (By
Location(AA) Modifications Resource
275Phosphoserine.Swiss-Prot 53.0
276Phosphoserine.Swiss-Prot 53.0
277Phosphoserine.Swiss-Prot 53.0
278Phosphoserine.Swiss-Prot 53.0
488Phosphothreonine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
38SulfotyrosineHMM predict
114Phosphoserine(CK1)HMM predict
178Phosphotyrosine(INSR)HMM predict
178Phosphotyrosine(EGFR)HMM predict
274Phosphoserine(CK2)HMM predict
275Phosphoserine(CK1)HMM predict
276Phosphoserine(CK1)HMM predict
285Phosphothreonine(MAPK)HMM predict
285Phosphothreonine(CDC2)HMM predict
337Phosphoserine(CK1)HMM predict
349Phosphoserine(PKG)HMM predict
357Phosphoserine(IKK)HMM predict
357Phosphoserine(CK2)HMM predict
361Phosphoserine(CK1)HMM predict
362PhosphoserineHMM predict
362Phosphoserine(CK1)HMM predict
405SulfotyrosineHMM predict
413Phosphotyrosine(Jak)HMM predict
484PhosphothreonineHMM predict
484Phosphothreonine(CDK)HMM predict
484Phosphothreonine(MAPK)HMM predict
486Phosphothreonine(MAPK)HMM predict
507Phosphotyrosine(INSR)HMM predict
514Phosphotyrosine(Jak)HMM predict
567N-linkedHMM predict
568Phosphoserine(PKA)HMM predict
568Phosphoserine(PKG)HMM predict
569Phosphoserine(PKC)HMM predict
569Phosphoserine(ATM)HMM predict
615Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014413
  • Location:chr7 6029990-6065301
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 6082819 6084062 1243 18139
PHF8 HeLaGSE20725 6064880 6066029 1149 153
Rb SenescentGSE19898 6065296 6065479 183 86
hScc1 CdLSGSE12603 6065027 6065605 578 15
p130 shRbSenescentGSE19898 6065284 6065606 322 144
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 6032696 6032980 284 0
CTCF CD4SISSRdata 6032696 6032980 284 0
CTCF G2GSE9613 6032347 6032927 580 0
CTCF G2GSE9613 6037772 6037954 182 0
CTCF G2GSE9613 6064794 6065504 710 0
ER E2-MCF7GSE14664 6059572 6059609 37 0
FOXA1 MCF7GSE15244 6057072 6057391 319 0
FoxA1 MCF7MACSdata 6056962 6057183 221 0
FoxA1 MCF7MACSdata 6061642 6061787 145 0
FoxA1 MCF7MACSdata 6064684 6064893 209 0
Gata2 K562GSE18868 6029952 6030578 626 0
H3K4me3 colorectalcancer 6064620 6064907 287 0
H3ac HepG2E 6064620 6064907 287 0
Oct1 HelaGSE14283 6039085 6039122 37 0
Oct1 HelaGSE14283 6059582 6059611 29 0
PHF8 293TGSE20725 6064607 6065840 1233 0
Rb GrowingGSE19898 6064968 6065153 185 0
Rb SenescentGSE19898 6064924 6065204 280 0
Rb shRbSenescenceGSE19898 6064975 6065207 232 0
TAF HelaGSE8489 6064620 6065062 442 0
TAF k562GSE8489 6064620 6065098 478 0
USF1 HepG2E 6057072 6057391 319 0
hScc1 BcellGSE12603 6065062 6065504 442 0
p130 shRbSenescentGSE19898 6064727 6065237 510 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
23612 mRNA JTV1 chr7 5822122 5836706 532 mRNA EIF2AK1 chr7 5835120 5872026Sense/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


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