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Details of EWSR1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| EWSR1 | EWS | Q01844 | EWS_HUMAN | 2130 | Q92635 | Q96FE8 | 2CPE 2CPE | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Ewing sarcoma (ES) [MIM:612219]: A highly malignant | primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors | Note=A chromosomal aberration involving EWSR1 is associated with desmoplastic small round cell tumor (DSRCT). Translocation t(1122)(p13q12) with WT1. | 612219 | Note=A chromosomal aberration involving EWSR1 is associated with malignant melanoma of soft parts (MMSP). Translocation t(1222)(q13q12) with ATF-1. Malignant melanoma of soft parts | is a rare tumor developing in tendons and aponeuroses. | Note=A chromosomal aberration involving EWSR1 is associated with small round cell sarcoma. Translocation t(1122)(p36.1q12) with PATZ1. | 612219 | Angiomatoid fibrous histiocytoma (AFH) [MIM:612160]: A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces | mimicking a lymph node metastasis. Note=The disease may be caused by mutations affecting the gene represented in this entry. Chromosomal aberrations | Note=EFPS arise due to chromosomal translocations in which EWSR1 is fused to a variety of cellular transcription factors. EFPS are very potent transcriptional activators dependent on the EAD and a C-terminal DNA-binding domain contributed by the fusion partner. The spectrum of malignancies associated with EFPS are thought to arise via EFP-induced transcriptional deregulation | EWS-ERG |
Phenotypes
Abnormality of metabolism/homeostasis, Abnormality of the nervous system, Abnormality of the peripheral nervous system, All, Autosomal dominant inheritance, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Neoplasm of the nervous system, Neoplasm of the peripheral nervous system, Peripheral neuroepithelioma, Phenotypic abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||