AutismKB 2.0

Annotation Detail for EHD1


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Basic Information Top
Gene Symbol:EHD1 ( FLJ42622,FLJ44618,H-PAST,HPAST1,PAST,PAST1 )
Gene Full Name: EH-domain containing 1
Band: 11q13.1
Quick LinksEntrez ID:10938; OMIM: 605888; Uniprot ID:EHD1_HUMAN; ENSEMBL ID: ENSG00000110047; HGNC ID: 3242
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
456Phosphoserine.
Location(AA) Modifications Resource
453PhosphotyrosinePhospho.ELM 6.0
456Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
201Phosphoserine(CK1)HMM predict
326Phosphoserine(PKG)HMM predict
339Phosphotyrosine(EGFR)HMM predict
406Phosphoserine(ATM)HMM predict
448Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006795
  • Location:chr11 64376783-64402766
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 64403152 64403958 806 789
NFkBII GM12878GSE19485 64402395 64405483 3088 1173
PHF8 Hs68minusFBSGSE20725 64402808 64403413 605 344
TFAP2C MCF7GSE21234 64402865 64403482 617 407
p130 QuiescentGSE19898 64403283 64403480 197 615
p130 SenescentGSE19898 64402579 64403147 568 97
p130 shRbQuiescentGSE19898 64402595 64403370 775 216
p130 shRbSenescentGSE19898 64402613 64403127 514 104
p63 keratinocytesGSE17611 64405293 64406222 929 2991
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM10847GSE19485 64374769 64376770 2001 1014
NFkBII GM12878GSE19485 64374838 64376345 1507 1192
NFkBII GM12892GSE19485 64374504 64376689 2185 1187
RARA MCF7GSE15244 64375019 64375252 233 1648
RARG MCF7GSE15244 64375019 64375356 337 1596
TFAP2C MCF7GSE21234 64372629 64373174 545 3882
TFAP2C MCF7GSE21234 64374889 64375752 863 1463
VDR GM10855-stimGSE22484 64372241 64379886 7645 720
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 64378523 64379919 1396 0
CTCF CD4GSE12889 64402343 64403139 796 0
CTCF CD4SISSRdata 64402343 64403139 796 0
ER MCF7GSE19013 64400611 64401476 865 0
FOXA1 MCF7GSE15244 64378708 64379798 1090 0
FOXA1 MCF7GSE15244 64400502 64401526 1024 0
Fos K562GSE19551 64378782 64379517 735 0
H3ac HepG2E 64398381 64398894 513 0
H3ac HepG2E 64399635 64401903 2268 0
NFkBII GM10847GSE19485 64382768 64384538 1770 0
NFkBII GM12878GSE19485 64376685 64377977 1292 0
NFkBII GM12878GSE19485 64380222 64381314 1092 0
NFkBII GM15510GSE19485 64401078 64404111 3033 0
NRSF pAbJurkat 64379764 64380308 544 0
NRSF pAbJurkat 64380673 64381028 355 0
NRSF pAbJurkat 64395323 64395541 218 0
NRSF pAbJurkat 64398381 64398620 239 0
P300 T30-glioblastomaGSE21026 64378495 64381474 2979 0
PHF8 HeLaGSE20725 64401781 64403486 1705 0
Pol2 GM12878GSE19551 64399551 64404018 4467 0
RARA MCF7GSE15244 64378789 64379798 1009 0
RARA MCF7GSE15244 64399956 64401689 1733 0
RARG MCF7GSE15244 64378708 64379941 1233 0
RARG MCF7GSE15244 64398514 64399251 737 0
RARG MCF7GSE15244 64399994 64401618 1624 0
TFAP2C MCF7GSE21234 64378782 64379683 901 0
TFAP2C MCF7GSE21234 64380761 64381197 436 0
TFAP2C MCF7GSE21234 64400669 64402022 1353 0
hScc1 BcellGSE12603 64377934 64378708 774 0
hScc1 BcellGSE12603 64393820 64394256 436 0
hScc1 BcellGSE12603 64402088 64403224 1136 0
p130 SenescentGSE19898 64389173 64389401 228 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


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