Gene table of SMARCB1 : SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with SMARCB1OMIM linkNumber of associated genesgenes
PS156200MENTAL RETARDATION, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 44EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A
PS162091SCHWANNOMATOSISOMIM link to OMIM 3NF2, SMARCB1, LZTR1
PS135900COFFIN-SIRIS SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 5SMARCE1, SMARCB1, ARID1B, SMARCA4, ARID1A
PS609322RHABDOID TUMOR PREDISPOSITION SYNDROMEClinVar, OMIM link to OMIM 2SMARCA4, SMARCB1

Download the gene annotation in CSV format

Annotation of the gene SMARCB1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
RMTs methylate histone argininesR-HSA-32148587.49
Chromatin organizationR-HSA-48397265.19
Chromatin modifying enzymesR-HSA-32475095.19
Associated GO terms for Molecular function
GO termGO IDGO IC
RNA polymerase II regulatory region DNA bindingGO:00010123.36
RNA polymerase I regulatory region DNA bindingGO:00010137.54
core promoter proximal region DNA bindingGO:00011593.82
enhancer sequence-specific DNA bindingGO:00011585.36
nucleosome bindingGO:00314915.95
chromatin DNA bindingGO:00314905.37
nucleosomal DNA bindingGO:00314926.37
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
heterocyclic compound bindingGO:19013631.06
Tat protein bindingGO:00309577.66
sequence-specific DNA bindingGO:00435652.79
structure-specific DNA bindingGO:00435664.98
sequence-specific double-stranded DNA bindingGO:19908373.2
transcription coactivator activityGO:00037134.04
transcription cofactor activityGO:00037123.44
transcription factor activity, transcription factor bindingGO:00009893.36
transcription factor activity, protein bindingGO:00009883.35
core promoter proximal region sequence-specific DNA bindingGO:00009873.83
double-stranded DNA bindingGO:00036903.09
transcription factor bindingGO:00081343.46
RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009805.58
RNA polymerase I CORE element sequence-specific DNA bindingGO:00011647.66
regulatory region nucleic acid bindingGO:00010673.03
RNA polymerase I regulatory region sequence-specific DNA bindingGO:00011637.66
protein complex bindingGO:00324033.09
enhancer bindingGO:00353265.21
core promoter bindingGO:00010474.71
core promoter sequence-specific DNA bindingGO:00010465.12
transcription regulatory region DNA bindingGO:00442123.03
organic cyclic compound bindingGO:00971591.05
transcription regulatory region sequence-specific DNA bindingGO:00009763.24
RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009773.37
protein bindingGO:00055150.46
regulatory region DNA bindingGO:00009753.03
RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009783.88
chromatin bindingGO:00036823.64
p53 bindingGO:00020395.53