Property Summary

NCBI Gene PubMed Count 47
PubMed Score 33.26
PubTator Score 30.43

Knowledge Summary


No data available


  Disease Sources (7)

Disease Target Count P-value
posterior fossa group B ependymoma 1530 1.00348363828981E-8
pituitary cancer 1972 3.68646633895381E-5
osteosarcoma 7933 6.98758360041717E-5
group 3 medulloblastoma 2254 0.00183973282515253
ovarian cancer 8492 0.00684671331160512
glioblastoma 5572 0.0118773406834413
astrocytic glioma 2241 0.0413350318275061
spina bifida 1064 0.041670104408046
Disease Target Count Z-score Confidence
Type 1 diabetes mellitus 104 0.0 2.0
Disease Target Count Z-score Confidence
Intellectual disability 573 3.356 1.7
Disease Target Count
Meningioma 27


  Differential Expression (8)

Disease log2 FC p
astrocytic glioma -1.400 0.041
osteosarcoma -2.294 0.000
posterior fossa group B ependymoma 1.600 0.000
glioblastoma -1.400 0.012
group 3 medulloblastoma 1.400 0.002
spina bifida -1.603 0.042
ovarian cancer -1.400 0.007
pituitary cancer 1.700 0.000

 MGI Term (1)

Gene RIF (17)

26803492 a family with a pediatric CCM patient and an adult CCM patient and several asymptomatic relatives carrying a germline SMARCE1 mutation.
25656847 Addition of the EGFR inhibitor gefitinib restores the sensitivity of SMARCE1-knockdown cells to MET and ALK inhibitors in NSCLCs. Our findings link SMARCE1 to EGFR oncogenic signaling and suggest targeted treatment options for SMARCE1-deficient tumors.
25611552 The results suggested that BAF57 is involved in ovarian cancer cell growth and sensitivity to anticancer agents, and that BAF57 may be a target for ovarian cancer therapy.
25168959 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SmarCE1 gene.
25143307 these results demonstrate that loss of SMARCE1 is relevant to cranial as well as spinal meningiomas
25081545 BAF complex gene SMARCE1 is mutated in Coffin-Siris syndrome patients.
24880093 Since both TTF1 and SMARCE1 are involved in chromatin remodeling, our results imply an epigenetic regulatory mechanism for T-cell recruitment that invites deciphering.
23493350 Data indicate that BAF57 deregulation predisposes to metastasis.
23377182 Our findings identify multiple-spinal-meningioma disease as a new discrete entity and establish a key role for the SWI/SNF complex in the pathogenesis of both meningiomas and tumors with clear-cell histology.
22419023 BAF57 expression was significantly associated with the surgical stage, grade of the tumor, myometrial invasion, lympho-vascular space invasion and lymph node metastasis in 111 endometrial carcinomas.

AA Sequence


Text Mined References (58)

PMID Year Title
26803492 2016 A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25656847 2015 SMARCE1 suppresses EGFR expression and controls responses to MET and ALK inhibitors in lung cancer.
25611552 2015 Expression of BAF57 in ovarian cancer cells and drug sensitivity.
25416956 2014 A proteome-scale map of the human interactome network.
25249420 2015 Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
25143307 2014 Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.