AutismKB 2.0

Annotation Detail for ITGB1BP1


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Basic Information Top
Gene Symbol:ITGB1BP1 ( DKFZp686K08158,ICAP-1A,ICAP-1B,ICAP-1alpha,ICAP1,ICAP1A,ICAP1B )
Gene Full Name: integrin beta 1 binding protein 1
Band: 2p25.1
Quick LinksEntrez ID:9270; OMIM: 607153; Uniprot ID:ITBP1_HUMAN; ENSEMBL ID: ENSG00000119185; HGNC ID: 23927
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
41Phosphoserine.
Location(AA) Modifications Resource
38Phosphothreonine (CaM-KIIalpha)Phospho.ELM 6.0
Location(AA) Modification Resource
10Phosphoserine(CK2)HMM predict
10Phosphoserine(IKK)HMM predict
10Phosphoserine(CK1)HMM predict
11Phosphoserine(CK1)HMM predict
14Phosphoserine(ATM)HMM predict
25Phosphoserine(IKK)HMM predict
28Phosphoserine(CK1)HMM predict
38Phosphothreonine(PKC)HMM predict
46O-linkedHMM predict
53Phosphoserine(IKK)HMM predict
55N-linkedHMM predict
56N-linkedHMM predict
163Phosphoserine(CK2)HMM predict
167Phosphotyrosine(SRC)HMM predict
187LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004763
  • Location:chr2 9463273-9481093
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 9480308 9481880 1572 1
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 9471218 9471389 171 0
CTCF G2GSE9613 9479890 9481014 1124 0
ETS1 JurkatGSE17954 9479971 9481820 1849 0
FOXA1 MCF7GSE15244 9466361 9466994 633 0
H3K4me2 HCT116GSE10453 9479434 9480008 574 0
H3ac HepG2E 9479291 9480593 1302 0
NFkBII GM15510GSE19485 9480054 9481904 1850 0
PHF8 HeLaGSE20725 9480035 9481863 1828 0
TFAP2C MCF7GSE21234 9466019 9466823 804 0
hScc1 BcellGSE12603 9480593 9481095 502 0
hScc1 G2GSE9613 9480256 9481014 758 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