Gene: SMARCB1

6598
BAF47|CSS3|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|Sfh1p|Snr1|hSNFS
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
protein-coding
22q11.23|22q11
Ensembl:ENSG00000099956 MIM:601607 Vega:OTTHUMG00000150737 UniprotKB:Q12824
NG_009303.1
PubMed|SNP Mapped
1   ANCO-SNPs
ND|AD
2   
NA (AD)  NA (ND)   (Frontal_Cortex)
4.754e-1 (AD)  7.424e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs2267032chr22:23806086 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

Probe Locus(GRCh37) Gene Region p-val Trait PubMed ID
cg06935052chr22:24176449SMARCB13'UTR6.306e-4Alcohol use disorders26763658

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
AAMP0.954
STX50.952
YIPF30.951
STOML20.951
THAP40.949
PMPCA0.94
PUF600.937
SCAMP30.937
CHMP1A0.936
GRINA0.936

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.815
OR4F29-0.76
IFNG-0.278
MTRNR2L9-0.278
MTRNR2L6-0.277
OR6C74-0.268
FMO3-0.264
FCRL1-0.259
CETP-0.249
KLRB1-0.241

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0297902,2',3',4,4',5-hexachlorobiphenyl"2,2',3',4,4',5-hexachlorobiphenyl affects the expression of SMARCB1 mRNA"21703328
C0164032,4-dinitrotoluene"2,4-dinitrotoluene affects the expression of SMARCB1 mRNA"21346803
C0094072,5,2',5'-tetrachlorobiphenyl"2,5,2',5'-tetrachlorobiphenyl affects the expression of SMARCB1 mRNA"21703328
C0303702-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone"2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone results in increased expression of SMARCB1 mRNA"20206263
C0230353,4,5,3',4'-pentachlorobiphenyl"3,4,5,3',4'-pentachlorobiphenyl affects the expression of SMARCB1 mRNA"21703328
D000082AcetaminophenAcetaminophen results in decreased expression of SMARCB1 mRNA26690555
D000082AcetaminophenAcetaminophen affects the expression of SMARCB1 mRNA17562736
C006632arsenic trioxidearsenic trioxide results in increased expression of SMARCB1 mRNA20458559
D001564Benzo(a)pyreneBenzo(a)pyrene results in increased expression of SMARCB1 mRNA20504355
C006780bisphenol Abisphenol A results in increased expression of SMARCB1 mRNA25181051
C006780bisphenol Abisphenol A results in increased methylation of SMARCB1 gene28505145
C584509C646 compoundC646 compound results in decreased expression of SMARCB1 mRNA26191083
D019256Cadmium ChlorideCadmium Chloride results in decreased methylation of SMARCB1 promoter22457795
D002251Carbon TetrachlorideCarbon Tetrachloride affects the expression of SMARCB1 mRNA17484886
D003633Dichlorodiphenyl DichloroethyleneDichlorodiphenyl Dichloroethylene results in increased activity of SMARCB1 protein27589886
D004008DiclofenacDiclofenac results in increased expression of SMARCB1 mRNA26934552
C024629dimethyl phthalatedimethyl phthalate affects the expression of SMARCB1 mRNA26924002
D004791Enzyme Inhibitors[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of SMARCB1 protein23301498
C045651epigallocatechin gallate[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of SMARCB1 mRNA22079256
D004997Ethinyl EstradiolEthinyl Estradiol affects the expression of SMARCB1 mRNA17555576
D005038EthylnitrosoureaEthylnitrosourea results in increased mutagenesis of SMARCB1 gene27776689
D005485FlutamideFlutamide results in increased expression of SMARCB1 mRNA24136188
C070081fulvestrantfulvestrant results in increased expression of SMARCB1 protein24169358
D005839GentamicinsGentamicins results in increased expression of SMARCB1 mRNA22061828
D005897GlafenineGlafenine results in increased expression of SMARCB1 mRNA24136188
C010974glyphosate[Surface-Active Agents co-treated with glyphosate] results in increased expression of SMARCB1 mRNA22467014
C010974glyphosateglyphosate results in increased expression of SMARCB1 mRNA26302742
D006418HemeHeme metabolite results in decreased expression of SMARCB1 mRNA19191707
C098607JP8 aviation fuelJP8 aviation fuel affects the expression of SMARCB1 mRNA15182950
D007854LeadLead affects the expression of SMARCB1 mRNA28903495
D008070LipopolysaccharidesLipopolysaccharides results in increased expression of SMARCB1 mRNA12057914
D008727MethotrexateMethotrexate results in increased expression of SMARCB1 mRNA24449571
C406082monomethylarsonous acidmonomethylarsonous acid results in increased expression of SMARCB1 mRNA20024957
C517284monomethyl phthalatemonomethyl phthalate affects the expression of SMARCB1 mRNA26924002
C051752nefazodonenefazodone results in increased expression of SMARCB1 mRNA24136188
C027373potassium chromate(VI)[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of SMARCB1 mRNA22079256
C027373potassium chromate(VI)potassium chromate(VI) results in decreased expression of SMARCB1 mRNA22079256
C059514resveratrolresveratrol results in decreased expression of SMARCB1 protein25505154
D012999SomanSoman results in decreased expression of SMARCB1 mRNA19281266
D013501Surface-Active Agents[Surface-Active Agents co-treated with glyphosate] results in increased expression of SMARCB1 mRNA22467014
D013629TamoxifenTamoxifen affects the expression of SMARCB1 mRNA17555576
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of SMARCB1 mRNA21570461
C012589trichostatin Atrichostatin A results in decreased expression of SMARCB1 mRNA28542535
D014635Valproic AcidValproic Acid results in decreased expression of SMARCB1 mRNA19101580|2317975
D014635Valproic AcidValproic Acid affects the expression of SMARCB1 mRNA17292431
D001335Vehicle EmissionsVehicle Emissions results in decreased methylation of SMARCB1 gene25560391

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0000978RNA polymerase II proximal promoter sequence-specific DNA bindingcontributes_toHDA16217013  
GO:0000980RNA polymerase II distal enhancer sequence-specific DNA bindingcontributes_toHDA16217013  
GO:0001164RNA polymerase I CORE element sequence-specific DNA binding-IMP22368283  
GO:0002039p53 binding-IPI11950834  
GO:0003677DNA binding-IDA26073604  
GO:0003713transcription coactivator activity-IMP16687403  
GO:0003713transcription coactivator activity-NAS8804307  
GO:0005515protein binding-IBA21873635  
GO:0005515protein binding-IPI10078207  12368262  14963118  15985610  16601680  16687403  
20111005  22368283  23540691  
GO:0030957Tat protein binding-IPI16687403  
GO:0031492nucleosomal DNA bindingcontributes_toHDA16217013  
GO ID GO Term Qualifier Evidence PubMed
GO:0001188RNA polymerase I transcriptional preinitiation complex assembly-IEA-  
GO:0006281DNA repair-IBA21873635  
GO:0006337nucleosome disassembly-IBA21873635  
GO:0006337nucleosome disassembly-IDA8895581  
GO:0006338chromatin remodeling-IDA11726552  
GO:0006338chromatin remodeling-IMP22368283  
GO:0006357regulation of transcription by RNA polymerase II-IBA21873635  
GO:0006357regulation of transcription by RNA polymerase II-NAS8804307  
GO:0007049cell cycle-IEA-  
GO:0007399nervous system development-IEA-  
GO:0008285negative regulation of cell proliferation-IBA21873635  
GO:0015074DNA integration-TAS7801128  
GO:0030154cell differentiation-IBA21873635  
GO:0039692single stranded viral RNA replication via double stranded DNA intermediate-IDA14963118  
GO:0043044ATP-dependent chromatin remodeling-HDA16217013  
GO:0043044ATP-dependent chromatin remodeling-IBA21873635  
GO:0043923positive regulation by host of viral transcription-IMP16687403  
GO:0045944positive regulation of transcription by RNA polymerase II-IDA11950834  
GO:0051091positive regulation of DNA-binding transcription factor activity-IDA11950834  
GO:0090240positive regulation of histone H4 acetylation-IMP22368283  
GO:1900110negative regulation of histone H3-K9 dimethylation-IMP22368283  
GO:1900113negative regulation of histone H3-K9 trimethylation-IMP22368283  
GO:1901838positive regulation of transcription of nucleolar large rRNA by RNA polymerase I-IGI22368283  
GO:1901838positive regulation of transcription of nucleolar large rRNA by RNA polymerase I-IMP22368283  
GO:1902661positive regulation of glucose mediated signaling pathway-IDA22368283  
GO:2000617positive regulation of histone H3-K9 acetylation-IMP22368283  
GO:2000618regulation of histone H4-K16 acetylationNOTIMP22368283  
GO ID GO Term Qualifier Evidence PubMed
GO:0000790nuclear chromatin-HDA16217013  
GO:0001650fibrillar center-IDA-  
GO:0005634nucleus-IBA21873635  
GO:0005634nucleus-IDA11430827  22368283  
GO:0005654nucleoplasm-IDA-  
GO:0005654nucleoplasm-TAS-  
GO:0005730nucleolus-IDA22368283  
GO:0016514SWI/SNF complex-IBA21873635  
GO:0016514SWI/SNF complex-IDA8804307  8895581  11078522  
GO:0032991protein-containing complex-HDA16217013  
GO:0043231intracellular membrane-bounded organelle-IDA-  
GO:0071564npBAF complex-ISS-  
GO:0071565nBAF complex-ISS-  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence
R-HSA-212436Generic Transcription PathwayTAS
R-HSA-3214858RMTs methylate histone argininesTAS
R-HSA-3247509Chromatin modifying enzymesTAS
R-HSA-4839726Chromatin organizationTAS
R-HSA-73857RNA Polymerase II TranscriptionTAS
R-HSA-74160Gene expression (Transcription)TAS
R-HSA-8878171Transcriptional regulation by RUNX1TAS
R-HSA-8939243RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not knownTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
24585446Genetic variants in the SWI/SNF complex and smoking collaborate to modify the risk of pancreatic cancer in a Chinese population. (2015 Sep)Zhu BMol Carcinog
28981154Variation in SWI/SNF Chromatin Remodeling Complex Proteins is Associated with Alcohol Dependence and Antisocial Behavior in Human Populations. (2017 Dec)Mathies LDAlcohol Clin Exp Res