AutismKB 2.0

Annotation Detail for CHPF2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CHPF2 ( CSGLCA-T,CSGlcAT,ChSy-3,KIAA1402 )
Gene Full Name: chondroitin polymerizing factor 2
Band: 7q36.1
Quick LinksEntrez ID:54480; OMIM: 608037; Uniprot ID:CHPF2_HUMAN; ENSEMBL ID: ENSG00000033100; HGNC ID: 29270
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
121N-linked (GlcNAc...) (Potential).
342N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019015
  • Location:chr7 150560517-150566837
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb shRbQuiescentGSE19898 150560158 150560484 326 197
p130 QuiescentGSE19898 150559944 150560150 206 471
p130 QuiescentGSE19898 150560278 150560629 351 64
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 150560353 150561166 813 0
CTCF G2GSE9613 150561749 150562047 298 0
CTCF G2GSE9613 150563194 150563439 245 0
CTCF G2GSE9613 150565423 150566401 978 0
ETS1 JurkatGSE17954 150559971 150561297 1326 0
H3ac HepG2E 150561124 150562366 1242 0
PHF8 HeLaGSE20725 150560074 150561312 1238 0
VDR GM10861-stimGSE22484 150559852 150562422 2570 0
hScc1 BcellGSE12603 150565864 150566264 400 0
p130 QuiescentGSE19898 150561507 150561699 192 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