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Details of SMARCB1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SMARCB1 | BAF47,INI1,SNF5L1 | Q12824 | SNF5_HUMAN | 6598 | ENSG00000099956 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Rhabdoid tumor predisposition syndrome 1 (RTPS1) [MIM:609322]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609322 | Schwannomatosis (SCHWA) [MIM:162091]: Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations, and dermal schwannomas may precede vestibular tumors in NF2-affected children. There have been several reports of individuals with multiple schwannomas who do not show evidence of vestibular schwannoma. Clinical report suggests that schwannomatosis is a clinical entity distinct from other forms of neurofibromatosis. Note=The disease is caused by mutations affecting the gene represented in this entry. | 162091 | Mental retardation, autosomal dominant 15 (MRD15) [MIM:614608]: A disease characterized by multiple congenital anomalies and mental retardation. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD15 patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger or toenails, a coarse facial appearance, sparse scalp hair, thick eyebrows, and long eyelashes. Additional variable features include microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition, hirsutism. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614608 | ||||
Phenotypes
Abnormality of metabolism/homeostasis, Abnormality of the central nervous system, Abnormality of the nervous system, All, Autosomal dominant inheritance, Malignant neoplasm of the central nervous system, Medulloblastoma, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Neoplasm of the central nervous system, Neoplasm of the nervous system, Phenotypic abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Smarcb1 | Snr1 | snfc-5 | Sp-Smarcb1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SMARCB1 | ACTL6A | 0.234027749 | SMARCB1 | ACTL6A | cpx6 | yes | yes | no | Known |
| SMARCB1 | ARID1A | 1 | SMARCB1 | ARID1A | cpx6 | yes | yes | yes | Known |
| SMARCB1 | ARID1B | 1 | SMARCB1 | ARID1B | cpx6 | yes | yes | yes | Known |
| SMARCB1 | BCL7A | 1 | SMARCB1 | BCL7A | cpx6 | no | no | no | Novel |
| SMARCB1 | BCL7B | 1 | SMARCB1 | BCL7B | cpx6 | no | no | no | Novel |
| SMARCB1 | DPF3 | 1 | SMARCB1 | DPF3 | cpx6 | no | yes | no | Known |
| SMARCB1 | DPF2 | 1 | SMARCB1 | DPF2 | cpx6 | yes | yes | yes | Known |
| SMARCB1 | SMARCD1 | 1 | SMARCB1 | SMARCD1 | cpx6 | yes | yes | yes | Known |
| SMARCB1 | SMARCD2 | 1 | SMARCB1 | SMARCD2 | cpx6 | yes | yes | no | Known |
| SMARCB1 | SMARCD3 | 1 | SMARCB1 | SMARCD3 | cpx6 | yes | yes | no | Known |
| SMARCC1 | SMARCB1 | 1 | SMARCC1 | SMARCB1 | cpx6 | yes | yes | yes | Known |
| SMARCE1 | SMARCB1 | 1 | SMARCE1 | SMARCB1 | cpx6 | yes | yes | yes | Known |
| BCL7C | SMARCB1 | 1 | BCL7C | SMARCB1 | cpx6 | no | yes | no | Known |
| SMARCA2 | SMARCB1 | 1 | SMARCA2 | SMARCB1 | cpx6 | yes | yes | yes | Known |
| SMARCC2 | SMARCB1 | 1 | SMARCC2 | SMARCB1 | cpx6 | yes | yes | yes | Known |
| SMARCA4 | SMARCB1 | 1 | SMARCA4 | SMARCB1 | cpx6 | yes | yes | yes | Known |
| SMARCB1 | SS18 | 1 | SMARCB1 | SS18 | cpx6 | no | yes | yes | Known |
| SMARCB1 | TBL1XR1 | 0.317024963 | SMARCB1 | TBL1XR1 | cpx6 | yes | no | no | Known |