AutismKB 2.0

Annotation Detail for SMARCB1


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Basic Information Top
Gene Symbol:SMARCB1 ( BAF47,INI1,RDT,RTPS1,SNF5,SNF5L1,Sfh1p,Snr1,hSNFS )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Band: 22q11.23
Quick LinksEntrez ID:6598; OMIM: 601607; Uniprot ID:SNF5_HUMAN; ENSEMBL ID: ENSG00000099956; HGNC ID: 11103
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
129Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
56Phosphothreonine(PKC)HMM predict
81Phosphotyrosine(INSR)HMM predict
83O-linkedHMM predict
86O-linkedHMM predict
87O-linkedHMM predict
107Phosphotyrosine(Syk)HMM predict
137N-linkedHMM predict
179N-linkedHMM predict
289PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001007468
  • Location:chr22 22459149-22506703
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 22458398 22458881 483 510
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22505934 22506460 526 0
FOXA1 MCF7GSE15244 22459741 22460165 424 0
FOXA1 MCF7GSE15244 22461404 22461833 429 0
H3K4me3 colorectalcancer 22459741 22460568 827 0
H3ac HepG2E 22459741 22460568 827 0
Myc hESGSE17917 22493231 22493460 229 0
PHF8 HeLaGSE20725 22458902 22459929 1027 0
PHF8 Hs68plusFBSGSE20725 22458929 22459990 1061 0
TAF k562GSE8489 22459708 22460568 860 0
hScc1 BcellGSE12603 22459104 22459619 515 0
hScc1 BcellGSE12603 22473159 22473599 440 0
p130 QuiescentGSE19898 22459315 22459495 180 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