AutismKB 2.0

Annotation Detail for APH1B


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Basic Information Top
Gene Symbol:APH1B ( APH-1B,DKFZp564D0372,FLJ33115,PRO1328,PSFL,TAAV688 )
Gene Full Name: anterior pharynx defective 1 homolog B (C. elegans)
Band: 15q22.2
Quick LinksEntrez ID:83464; OMIM: 607630; Uniprot ID:APH1B_HUMAN; ENSEMBL ID: ENSG00000138613; HGNC ID: 24080
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_031301
  • Location:chr15 61356843-61385164
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 61356451 61356933 482 152
PHF8 HeLaGSE20725 61355930 61357326 1396 216
hScc1 BcellGSE12603 61356411 61357049 638 114
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 61368078 61368406 328 0
CTCF CD4SISSRdata 61368078 61368406 328 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