AutismKB 2.0

Annotation Detail for ITGB7


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Basic Information Top
Gene Symbol:ITGB7 ( - )
Gene Full Name: integrin, beta 7
Band: 12q13.13
Quick LinksEntrez ID:3695; OMIM: 147559; Uniprot ID:ITB7_HUMAN; ENSEMBL ID: ENSG00000139626; HGNC ID: 6162
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
68N-linked (GlcNAc...) (Potential).
279N-linked (GlcNAc...) (Potential).
434N-linked (GlcNAc...) (Potential).
477N-linked (GlcNAc...) (Potential).
531N-linked (GlcNAc...) (Potential).
590N-linked (GlcNAc...) (Potential).
665N-linked (GlcNAc...) (Potential).
674N-linked (GlcNAc...) (Potential).
778Phosphotyrosine; by Tyr-kinases (By
Location(AA) Modifications Resource
68N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
279N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
434N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
477N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
531N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
590N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
665N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
674N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
778Phosphotyrosine (by Tyr-kinases) (Bysimilarity).Swiss-Prot 53.0
783PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
68N-linkedHMM predict
72Phosphoserine(CK2)HMM predict
112Phosphoserine(ATM)HMM predict
131Phosphothreonine(PKC)HMM predict
207PhosphothreonineHMM predict
228Phosphoserine(CDK)HMM predict
234Phosphoserine(CK1)HMM predict
349O-linkedHMM predict
375Phosphoserine(CK1)HMM predict
394O-linkedHMM predict
399O-linkedHMM predict
434N-linkedHMM predict
442O-linkedHMM predict
477N-linkedHMM predict
489Phosphoserine(ATM)HMM predict
520Phosphoserine(MAPK)HMM predict
531N-linkedHMM predict
587S-palmitoylHMM predict
590N-linkedHMM predict
607Phosphoserine(CDC2)HMM predict
619S-palmitoylHMM predict
692Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000889
  • Location:chr12 51871374-51887266
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Pol2 GM12878GSE19551 51887053 51887524 471 22
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 51870206 51870470 264 1037
CTCF CD4SISSRdata 51870206 51870470 264 1037
CTCF G2GSE9613 51869975 51870553 578 1111
RARG MCF7GSE15244 51864536 51877751 13215 231
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 51877736 51878001 265 0
CTCF CD4SISSRdata 51877736 51878001 265 0
CTCF G2GSE9613 51871841 51872616 775 0
CTCF G2GSE9613 51873077 51873281 204 0
CTCF G2GSE9613 51873708 51874522 814 0
CTCF G2GSE9613 51875648 51876136 488 0
CTCF G2GSE9613 51876616 51876838 222 0
CTCF G2GSE9613 51877386 51878142 756 0
CTCF G2GSE9613 51879966 51880366 400 0
CTCF G2GSE9613 51886610 51886856 246 0
FOXA1 MCF7GSE15244 51876708 51877119 411 0
FOXA1 MCF7GSE15244 51879930 51880141 211 0
RARG MCF7GSE15244 51878838 51879540 702 0
RARG MCF7GSE15244 51879930 51880673 743 0
RARG MCF7GSE15244 51881071 51881577 506 0
RARG MCF7GSE15244 51885761 51887429 1668 0
hScc1 BcellGSE12603 51877456 51878142 686 0
hScc1 BcellGSE12603 51885761 51886016 255 0
hScc1 CdLSGSE12603 51880519 51880673 154 0
p130 shRbQuiescentGSE19898 51885906 51886595 689 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


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