AutismKB 2.0

Annotation Detail for PLCH1


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Basic Information Top
Gene Symbol:PLCH1 ( DKFZp434C1372,MGC117152,PLCL3 )
Gene Full Name: phospholipase C, eta 1
Band: 3q25.31
Quick LinksEntrez ID:23007; OMIM: 612835; Uniprot ID:PLCH1_HUMAN; ENSEMBL ID: ENSG00000114805; HGNC ID: 29185
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1307Phosphoserine.
1494Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014996
  • Location:chr3 156680364-156796860
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 156674793 156674826 33 5555
Oct1 H2O2-HelaGSE14283 156660672 156660722 50 19668
Oct1 HelaGSE14283 156660681 156660720 39 19664
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 156753658 156756598 2940 0
H3ac HepG2E 156783038 156783209 171 0
Nanog hESGSE18292 156725726 156726255 529 0
RARG MCF7GSE15244 156681713 156682115 402 0
TFAP2C MCF7GSE21234 156735562 156736154 592 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
18886 EST chr3 156686293 156687612 1319 mRNA PLCL3 chr3 156680372 156796869 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