ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	SMARCB1
Previous Symbol	SNF5L1
Symbol Alias	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT
Approved Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Name Alias	sucrose nonfermenting, yeast, homolog-like 1, "integrase interactor 1", "malignant rhabdoid tumor suppressor"
Location	22q11.23
Position	chr22:24129150-24176705, +
External Links	HGNC: 11103 Entrez Gene: 6598 Ensembl: ENSG00000099956 UCSC: uc002zyb.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_37	chr22:22020325-23326630 (NCBI Build 36.1 (hg18))	1306306	22q11.23	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 27)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0001741	XY body	Cellular Component		2
GO:0001835	blastocyst hatching	Biological Process		2
GO:0002039	p53 binding	Molecular Function	IPI[11950834]	11
GO:0003713	transcription coactivator activity	Molecular Function	IMP[16687403]; NAS[8804307]	52
GO:0000228	nuclear chromosome	Cellular Component		4
GO:0006337	nucleosome disassembly	Biological Process	IDA[8895581]	4
GO:0006338	chromatin remodeling	Biological Process	IDA[11726552]	10
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0006357	regulation of transcription from RNA polymerase II promoter	Biological Process	NAS[8804307]	42
GO:0005515	protein binding	Molecular Function	IPI[16687403]	910
GO:0005634	nucleus	Cellular Component		770
GO:0005654	nucleoplasm	Cellular Component	TAS[7801128]	183
GO:0005730	nucleolus	Cellular Component		243
GO:0030957	Tat protein binding	Molecular Function	IPI[16687403]	2
GO:0030154	cell differentiation	Biological Process		51
GO:0019048	virus-host interaction	Biological Process		54
GO:0016514	SWI/SNF complex	Cellular Component	IDA[8804307]	2
GO:0015074	DNA integration	Biological Process	TAS[7801128]	5
GO:0008285	negative regulation of cell proliferation	Biological Process		59
GO:0007399	nervous system development	Biological Process		54
GO:0007049	cell cycle	Biological Process		31
GO:0071565	nBAF complex	Cellular Component		2
GO:0071564	npBAF complex	Cellular Component		2
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	Biological Process	IDA[11950834]	11
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	IDA[11950834]	131
GO:0045090	retroviral genome replication	Biological Process	IDA[14963118]	1
GO:0043923	positive regulation by host of viral transcription	Biological Process	IMP[16687403]	2

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with SMARCB1 (count: 52)

Gene Symbol	Pathway Count	Pathway List
SMARCD3	11	transcription coactivator activity; nucleosome disassembly; chromatin remodeling; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; nucleoplasm; SWI/SNF complex; nBAF complex; npBAF complex;
SNW1	9	transcription coactivator activity; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; nucleoplasm; nucleolus; virus-host interaction; positive regulation of transcription from RNA polymerase II promoter; positive regulation by host of viral transcription;
KDM1A	8	p53 binding; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; nucleoplasm; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
MEN1	8	chromatin remodeling; transcription, DNA-dependent; protein binding; nucleus; nucleoplasm; nucleolus; negative regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter;
KAT5	7	transcription coactivator activity; transcription, DNA-dependent; protein binding; nucleus; nucleolus; virus-host interaction; positive regulation of transcription from RNA polymerase II promoter;
HMGA1	7	nucleosome disassembly; transcription, DNA-dependent; protein binding; nucleus; nucleoplasm; virus-host interaction; negative regulation of cell proliferation;
MAPK1	7	transcription, DNA-dependent; protein binding; nucleus; nucleoplasm; nucleolus; virus-host interaction; cell cycle;
MAPK3	7	protein binding; nucleus; nucleoplasm; nucleolus; virus-host interaction; cell cycle; positive regulation of transcription from RNA polymerase II promoter;
DAXX	6	p53 binding; transcription, DNA-dependent; protein binding; nucleus; nucleolus; virus-host interaction;
TP53BP1	6	p53 binding; protein binding; nucleus; nucleoplasm; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
ATF6	6	transcription coactivator activity; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; nucleoplasm;
HINFP	6	transcription coactivator activity; transcription, DNA-dependent; protein binding; nucleus; nucleoplasm; nucleolus;
MAML1	6	transcription coactivator activity; protein binding; nucleus; nucleoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
MED1	6	transcription coactivator activity; protein binding; nucleus; nucleoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
NCOA6	6	transcription coactivator activity; protein binding; nucleus; nucleoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
NR5A1	6	transcription coactivator activity; protein binding; nucleus; nucleoplasm; cell differentiation; positive regulation of transcription from RNA polymerase II promoter;
SUB1	6	transcription coactivator activity; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; nucleolus;
TFAP2A	6	transcription coactivator activity; protein binding; nucleus; nucleolus; negative regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter;
UTF1	6	transcription coactivator activity; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
ATXN1	6	transcription, DNA-dependent; protein binding; nucleus; nucleoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
POU2F3	6	transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
MAPK7	6	protein binding; nucleus; nucleoplasm; cell differentiation; cell cycle; positive regulation of transcription from RNA polymerase II promoter;
GSK3B	5	p53 binding; protein binding; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
RNF20	5	p53 binding; transcription coactivator activity; protein binding; nucleus; nucleolus;
BCL9L	5	transcription coactivator activity; transcription, DNA-dependent; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
MED14	5	transcription coactivator activity; regulation of transcription from RNA polymerase II promoter; nucleus; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter;
MED17	5	transcription coactivator activity; regulation of transcription from RNA polymerase II promoter; nucleus; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter;
NRIP1	5	transcription coactivator activity; transcription, DNA-dependent; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
PHF2	5	transcription coactivator activity; transcription, DNA-dependent; protein binding; nucleus; nucleolus;
PRPF6	5	transcription coactivator activity; protein binding; nucleus; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter;
PSMC3	5	transcription coactivator activity; protein binding; nucleus; nucleoplasm; virus-host interaction;
SRCAP	5	transcription coactivator activity; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; nucleus; virus-host interaction;
THRAP3	5	transcription coactivator activity; protein binding; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
UBE3A	5	transcription coactivator activity; protein binding; nucleus; virus-host interaction; positive regulation of transcription from RNA polymerase II promoter;
YAP1	5	transcription coactivator activity; protein binding; nucleus; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter;
TERF2IP	5	nuclear chromosome; transcription, DNA-dependent; protein binding; nucleus; nucleoplasm;
BNIP3	5	chromatin remodeling; protein binding; nucleus; nucleoplasm; virus-host interaction;
CBFA2T3	5	transcription, DNA-dependent; protein binding; nucleoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
ETS1	5	transcription, DNA-dependent; protein binding; nucleus; negative regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter;
HSPA8	5	transcription, DNA-dependent; protein binding; nucleus; nucleolus; virus-host interaction;
NCOR2	5	transcription, DNA-dependent; protein binding; nucleus; nucleoplasm; nucleolus;
NEDD4L	5	transcription, DNA-dependent; protein binding; nucleus; nucleoplasm; virus-host interaction;
NEUROD2	5	transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; nucleus; nervous system development; positive regulation of sequence-specific DNA binding transcription factor activity;
NR4A2	5	transcription, DNA-dependent; protein binding; nucleus; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter;
SAP18	5	transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; nucleolus;
SREBF1	5	transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
XRCC5	5	transcription, DNA-dependent; protein binding; nucleus; nucleoplasm; nucleolus;
ZNF423	5	transcription, DNA-dependent; protein binding; nucleus; cell differentiation; nervous system development;
FOSL1	5	regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; negative regulation of cell proliferation; positive regulation of sequence-specific DNA binding transcription factor activity;
RBM4	5	protein binding; nucleus; nucleoplasm; nucleolus; cell differentiation;
RBPJ	5	protein binding; nucleus; nucleoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
RELA	5	protein binding; nucleus; nucleoplasm; virus-host interaction; positive regulation of transcription from RNA polymerase II promoter;

Genes shared at least 2 KEGG pathways with SMARCB1 (count: 0)

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Region: chr22:24129150..24176705 View in gBrowse