SWI/SNF related BAF chromatin remodeling complex subunit B1
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Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEmbryonal tumour of possible germline origin
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial tumours of the nervous system
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial Tumours Syndromes of the central & peripheral Nervous system
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+6 more panels — install the extension to see the full list inline on any page.
rhabdoid tumor predisposition syndrome 1
schwannomatosis
SMARCB1-related schwannomatosis
familial rhabdoid tumor
intellectual disability, autosomal dominant 15
rhabdoid tumor
Coffin-Siris syndrome
hereditary neoplastic syndrome
Inherited cancer-predisposing syndrome
neurodegenerative disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1
SMARCB1 · Q12824
Mean pLDDT
80.8/ 100
Confident
385 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
