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 |
|---|---|---|---|
| RS1060501396 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1060501398 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1198138077 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1200029275 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1307270981 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS1307734637 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1322064785 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS1323477202 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1356156358 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS1356231337 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS139178605 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1395650269 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1397941319 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS140414666 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Coffin-Siris syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1413987767 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1415603265 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS142279746 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1442599198 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1444576393 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS147883949 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS151220618 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1555605056 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1555605079 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1555605096 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1597741198 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1597741256 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS1597741306 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1597741316 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1597742452 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1597746020 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1597746280 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS1597749763 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS1597749796 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Coffin-Siris syndrome 5 |
| RS201158885 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS201577008 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS201976136 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Coffin-Siris syndrome 5 |
| RS2037060386 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037060453 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037060934 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037062100 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037084779 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037085057 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Coffin-Siris syndrome 5, Hereditary cancer-predisposing syndrome |
| RS2037085756 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037087035 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037096994 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037142228 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037142277 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2037142335 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2143980289 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2143980805 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |