SMARCE1 Chromosome 17
SWI/SNF related BAF chromatin remodeling complex subunit E1
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What This Gene Does
The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"BAF complex subunits|PBAF complex subunits"
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000073584
Associated Conditions (7)
Familial meningioma
Hereditary cancer-predisposing syndrome
Coffin-Siris syndrome 5
SMARCE1-related disorder
Inborn genetic diseases
Tessier cleft
Medulloblastoma non-WNT/non-SHH group 3
Key Variants
RS1060501396
Conflicting classifications of pathogenicity
Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma
Health Risk
RS1060501398
Conflicting classifications of pathogenicity
Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma
Health Risk
RS1198138077
Conflicting classifications of pathogenicity
Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma
Health Risk
RS1200029275
Conflicting classifications of pathogenicity
Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma
Health Risk
RS1307270981
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome
Health Risk
RS1307734637
Conflicting classifications of pathogenicity
Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma
Health Risk
RS1322064785
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome
Health Risk
RS1323477202
Conflicting classifications of pathogenicity
Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma
Health Risk
RS1356156358
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome
Health Risk
RS1356231337
Conflicting classifications of pathogenicity
Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma
Health Risk
RS139178605
Conflicting classifications of pathogenicity
Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma
Health Risk
RS1395650269
Conflicting classifications of pathogenicity
Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma
Health Risk
All Variants (155)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS925142025 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS932391748 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS956654252 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS976928947 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS1064796712 | Health Risk | Likely pathogenic | — |
| RS1085307924 | Health Risk | Likely pathogenic | — |
| RS1555605795 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 5, Coffin-Siris syndrome 5 |
| RS1555605893 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2037146593 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma, Familial meningioma |
| RS2143985266 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS2143988221 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS2143988635 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS2143997220 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS2143997384 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS2143997424 | Health Risk | Likely pathogenic | — |
| RS2508595907 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2508597255 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2508598327 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS2508598492 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS2508604717 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS397509407 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS1026195254 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS1060501395 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS1251821702 | Health Risk | Pathogenic | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1426841589 | Health Risk | Pathogenic | Coffin-Siris syndrome 5, Coffin-Siris syndrome 5 |
| RS1555605347 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS1555605750 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS1555605752 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2037087179 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS2037146773 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS2143986798 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2143986835 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS2143986851 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS2143988272 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS2143988301 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS2143996133 | Health Risk | Pathogenic | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2143996366 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS2143997316 | Health Risk | Pathogenic | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2143997365 | Health Risk | Pathogenic | Tessier cleft, Medulloblastoma non-WNT/non-SHH group 3, Tessier cleft |
| RS2508598488 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS2508603561 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS2508603762 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2508603823 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS2508604668 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS2508604703 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS387906857 | Health Risk | Pathogenic | Coffin-Siris syndrome 5, Familial meningioma, Coffin-Siris syndrome 5 |
| RS397509405 | Health Risk | Pathogenic | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS797045990 | Health Risk | Pathogenic | Familial meningioma, Coffin-Siris syndrome 5, Familial meningioma |
| RS878854603 | Health Risk | Pathogenic | Familial meningioma, Familial meningioma |
| RS1057518166 | Health Risk | Pathogenic/Likely pathogenic | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |