AutismKB 2.0

Annotation Detail for EFHA1


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Basic Information Top
Gene Symbol:EFHA1 ( 1110008L20Rik,FLJ25016,FLJ34588 )
Gene Full Name: EF-hand domain family, member A1
Band: 13q12.11
Quick LinksEntrez ID:221154; OMIM: 610632; Uniprot ID:EFHA1_HUMAN; ENSEMBL ID: ENSG00000165487; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
205Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
64Phosphoserine(IKK)HMM predict
103SulfotyrosineHMM predict
103Phosphotyrosine(Syk)HMM predict
103Phosphotyrosine(Abl)HMM predict
103Phosphotyrosine(INSR)HMM predict
123Phosphoserine(PKG)HMM predict
128Phosphothreonine(PKC)HMM predict
137Phosphoserine(CK1)HMM predict
216N-linkedHMM predict
220Phosphotyrosine(EGFR)HMM predict
231N-linkedHMM predict
308Phosphoserine(PKG)HMM predict
410Phosphotyrosine(Jak)HMM predict
433LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152726
  • Location:chr13 20964839-21076306
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 20951204 20951381 177 13547
CTCF G2GSE9613 20951805 20952145 340 12865
CTCF G2GSE9613 20956108 20956477 369 8547
Nanog hESGSE18292 20951227 20951393 166 13530
Oct1 HelaGSE14283 20953155 20953191 36 11667
Oct4 hESGSE17917 20949222 20949477 255 15490
Rb GrowingGSE19898 20959787 20959944 157 4974
Rb QuiescentGSE19898 20949227 20949378 151 15537
Rb SenescentGSE19898 20948970 20949134 164 15788
Rb SenescentGSE19898 20949205 20949407 202 15534
Sox2 hESGSE18292 20951199 20951384 185 13548
TAFII hESGSE17917 20956021 20956554 533 8552
hScc1 BcellGSE12603 20951204 20951519 315 13478
hScc1 CdLSGSE12603 20951204 20951553 349 13461
hScc1 G2GSE9613 20951204 20951381 177 13547
p130 QuiescentGSE19898 20949156 20949425 269 15549
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 21075810 21076424 614 0
ETS1 JurkatGSE17954 21075617 21076804 1187 0
Myc K562GSE19551 21039896 21040304 408 0
Myc K562GSE19551 21048729 21049022 293 0
Oct1 H2O2-HelaGSE14283 20965385 20965413 28 0
Oct1 HelaGSE14283 20965383 20965419 36 0
Oct1 HelaGSE14283 21006353 21006387 34 0
P300 T30-glioblastomaGSE21026 21075571 21076765 1194 0
PHF8 293TGSE20725 21075701 21076733 1032 0
PHF8 HeLaGSE20725 21075482 21076783 1301 0
PHF8 Hs68minusFBSGSE20725 21075256 21076611 1355 0
PHF8 Hs68plusFBSGSE20725 21075465 21076897 1432 0
TFAP2C MCF7GSE21234 21067442 21067971 529 0
TFAP2C MCF7GSE21234 21075563 21076198 635 0
VDR GM10861-stimGSE22484 21066507 21067969 1462 0
hScc1 CdLSGSE12603 21075554 21076458 904 0
p130 QuiescentGSE19898 21075696 21076170 474 0
p130 SenescentGSE19898 21075749 21076424 675 0
p130 shRbSenescentGSE19898 21075660 21076575 915 0
p63 keratinocytesGSE17611 20983639 20984404 765 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