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 |
|---|---|---|---|
| RS2143984936 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2143985147 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2144009228 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2293417 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS2508595899 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS2508596024 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS2508597454 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS267604854 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS372988818 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Coffin-Siris syndrome 5 |
| RS376327613 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS377136485 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Coffin-Siris syndrome 5 |
| RS529233633 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Familial meningioma |
| RS542193901 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Coffin-Siris syndrome 5, Hereditary cancer-predisposing syndrome |
| RS562702157 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS62622817 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Coffin-Siris syndrome 5 |
| RS745448272 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, SMARCE1-related disorder |
| RS746301638 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS746320191 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS746602244 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS747470831 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS750183985 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS750483952 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS751165188 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Coffin-Siris syndrome 5 |
| RS754993965 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS755389218 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS758831830 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS758923998 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS760713355 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS761846539 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS762623799 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Coffin-Siris syndrome 5 |
| RS763801620 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Coffin-Siris syndrome 5, Familial meningioma |
| RS765003978 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS765235194 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Coffin-Siris syndrome 5 |
| RS765354113 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, SMARCE1-related disorder |
| RS766200637 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS766656583 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS767236696 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS767569116 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS767835921 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS768536854 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS769672368 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS770346178 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS771281023 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS771308672 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Coffin-Siris syndrome 5 |
| RS772432672 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |
| RS773859296 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, SMARCE1-related disorder |
| RS775997908 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS776664220 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, SMARCE1-related disorder |
| RS781353760 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Familial meningioma |
| RS915901827 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial meningioma, Hereditary cancer-predisposing syndrome |