AutismKB 2.0

Annotation Detail for APH1A


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Basic Information Top
Gene Symbol:APH1A ( 6530402N02Rik,APH-1,APH-1A,CGI-78 )
Gene Full Name: anterior pharynx defective 1 homolog A (C. elegans)
Band: 1q21.2
Quick LinksEntrez ID:51107; OMIM: 607629; Uniprot ID:APH1A_HUMAN; ENSEMBL ID: ENSG00000117362; HGNC ID: 29509
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_001077628
  • Location:chr1 148504422-148508155
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T0-glioblastomaGSE21026 148507852 148508664 812 103
p130 SenescentGSE19898 148507907 148508522 615 59
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 148507701 148507996 295 0
ETS1 JurkatGSE17954 148507182 148508681 1499 0
H3K4me3 colorectalcancer 148506321 148506644 323 0
H3K4me3 colorectalcancer 148507074 148507399 325 0
H3ac HepG2E 148505346 148507734 2388 0
LIN9 G0GSE7516 148507474 148508062 588 0
P300 T30-glioblastomaGSE21026 148507208 148508543 1335 0
Rb SenescentGSE19898 148507824 148508194 370 0
hScc1 BcellGSE12603 148507589 148507801 212 0
p130 QuiescentGSE19898 148507840 148508450 610 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