AutismKB 2.0

Annotation Detail for ABTB1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ABTB1 ( BPOZ,BTB3,EF1ABP,MGC20585 )
Gene Full Name: ankyrin repeat and BTB (POZ) domain containing 1
Band: 3q21.3
Quick LinksEntrez ID:80325; OMIM: 608308; Uniprot ID:ABTB1_HUMAN; ENSEMBL ID: ENSG00000114626; HGNC ID: 18275
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
101Phosphotyrosine(Syk)HMM predict
308Phosphoserine(CK2)HMM predict
314O-linkedHMM predict
350Phosphotyrosine(SRC)HMM predict
454Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172027
  • Location:chr3 128874470-128882451
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68plusFBSGSE20725 128873215 128875617 2402 55
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 128882386 128882780 394 132
CTCF G2GSE9613 128885241 128885518 277 2928
hScc1 G2GSE9613 128882353 128882780 427 115
hScc1 G2GSE9613 128885241 128885518 277 2928
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 128874514 128874870 356 0
CTCF G2GSE9613 128875596 128875778 182 0
CTCF G2GSE9613 128878531 128879108 577 0
CTCF G2GSE9613 128880362 128880664 302 0
TFAP2C MCF7GSE21234 128877927 128878765 838 0
hScc1 BcellGSE12603 128880362 128880970 608 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