AutismKB 2.0

Annotation Detail for ENTHD1


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Basic Information Top
Gene Symbol:ENTHD1 ( CACNA1I,FLJ25421,dJ370M22.3 )
Gene Full Name: ENTH domain containing 1
Band: 22q13.1
Quick LinksEntrez ID:150350; OMIM: NA; Uniprot ID:ENTD1_HUMAN; ENSEMBL ID: ENSG00000176177; HGNC ID: 26352
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152512
  • Location:chr22 38468995-38619739
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 38449593 38450918 1325 18740
hScc1 CdLSGSE12603 38451439 38451729 290 17412
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 38474448 38475556 1108 0
CTCF CD4GSE12889 38534074 38534291 217 0
CTCF CD4SISSRdata 38534074 38534291 217 0
CTCF G2GSE9613 38534150 38534365 215 0
FOXA1 MCF7GSE15244 38499988 38500455 467 0
Fos K562GSE19551 38546089 38546631 542 0
Fos K562GSE19551 38565906 38566422 516 0
P300 T0-glioblastomaGSE21026 38474583 38475557 974 0
P300 T30-glioblastomaGSE21026 38474506 38475584 1078 0
hScc1 BcellGSE12603 38534150 38534365 215 0
hScc1 G2GSE9613 38534150 38534448 298 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
17500 HTC chr22 38596045 38596900 855 mRNA FLJ25421 chr22 38463549 38614294 Non-exonic Bidirectional (NOB) 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