AutismKB 2.0

Annotation Detail for PQBP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PQBP1 ( MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS )
Gene Full Name: polyglutamine binding protein 1
Band: Xp11.23
Quick LinksEntrez ID:10084; OMIM: 300463; Uniprot ID:PQBP1_HUMAN; ENSEMBL ID: ENSG00000102103; HGNC ID: 9330
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
247Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
40SulfotyrosineHMM predict
74Phosphoserine(IKK)HMM predict
146Phosphotyrosine(Syk)HMM predict
233O-linkedHMM predict
247O-linkedHMM predict
247Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001032384
  • Location:chrX 48640482-48645362
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 48640304 48640990 686 0
RNAII Tamoxifen-MCF7GSE14664 48641656 48641697 41 0
TAF k562GSE8489 48640138 48640990 852 0
hScc1 G2GSE9613 48644496 48644848 352 0
p130 SenescentGSE19898 48640495 48640740 245 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