Fusion gene information | Fusion gene name: FBXO10-NF2 |
Fusion gene ID: hg26267tg4771 | | Hgene | Tgene | Gene symbol | FBXO10 | NF2 | Gene ID | 26267 | 4771 | Gene name | F-box protein 10 | neurofibromin 2 |
Synonyms | FBX10|PRMT11 | ACN|BANF|SCH |
Cytomap | ('FBXO10')('NF2') 9p13.2 | 22q12.2 |
Type of gene | protein-coding | protein-coding |
Description | F-box only protein 10F-box protein Fbx10 | merlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannomin |
Modification date | 20200313 | 20200322 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000432825, ENST00000541829, ENST00000543968, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 15 X 13 X 7=1365 |
# samples | 1 | 17 |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(17/1365*10)=-3.00529429966951 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: FBXO10 [Title/Abstract] AND NF2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | FBXO10(37535714)-NF2(30093811), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | | C0027832 | Neurofibromatosis 2 | 28 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0025500 | Mesothelioma | 6 | CTD_human |
Tgene | | C0345967 | Malignant mesothelioma | 5 | CTD_human |
Tgene | | C0025286 | Meningioma | 2 | CGI;CTD_human;ORPHANET |
Tgene | | C3551915 | MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO | 2 | GENOMICS_ENGLAND |
Tgene | | C4048809 | SCHWANNOMATOSIS 1 | 2 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C0027859 | Acoustic Neuroma | 1 | GENOMICS_ENGLAND |
Tgene | | C0032229 | Pleural Neoplasms | 1 | CTD_human |
Tgene | | C0205834 | Meningiomas, Multiple | 1 | CTD_human |
Tgene | | C0259785 | Malignant Meningioma | 1 | CTD_human |
Tgene | | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C0281784 | Benign Meningioma | 1 | CTD_human |
Tgene | | C0334605 | Meningothelial meningioma | 1 | CTD_human |
Tgene | | C0334606 | Fibrous Meningioma | 1 | CTD_human |
Tgene | | C0334607 | Psammomatous Meningioma | 1 | CTD_human |
Tgene | | C0334608 | Angiomatous Meningioma | 1 | CTD_human |
Tgene | | C0334609 | Hemangioblastic Meningioma | 1 | CTD_human |
Tgene | | C0334610 | Hemangiopericytic Meningioma | 1 | CTD_human |
Tgene | | C0334611 | Transitional Meningioma | 1 | CTD_human |
Tgene | | C0347515 | Spinal Meningioma | 1 | CTD_human |
Tgene | | C0349604 | Intracranial Meningioma | 1 | CTD_human |
Tgene | | C0431121 | Clear Cell Meningioma | 1 | CTD_human |
Tgene | | C0457190 | Xanthomatous Meningioma | 1 | CTD_human |
Tgene | | C0751303 | Cerebral Convexity Meningioma | 1 | CTD_human |
Tgene | | C0751304 | Parasagittal Meningioma | 1 | CTD_human |
Tgene | | C0917817 | Neurofibromatosis 3 | 1 | ORPHANET |
Tgene | | C1136041 | Familial Acoustic Neuroma | 1 | CTD_human |
Tgene | | C1136042 | Neuroma, Acoustic, Bilateral | 1 | CTD_human |
Tgene | | C1136043 | Schwannoma, Acoustic, Bilateral | 1 | CTD_human |
Tgene | | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
Tgene | | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C1334261 | Intraorbital Meningioma | 1 | CTD_human |
Tgene | | C1334271 | Intraventricular Meningioma | 1 | CTD_human |
Tgene | | C1335107 | Olfactory Groove Meningioma | 1 | CTD_human |
Tgene | | C1335929 | Schwannomatosis | 1 | CTD_human;ORPHANET |
Tgene | | C1384406 | Secretory meningioma | 1 | CTD_human |
Tgene | | C1384408 | Microcystic meningioma | 1 | CTD_human |
Tgene | | C1527197 | Angioblastic Meningioma | 1 | CTD_human |
Tgene | | C1565950 | Posterior Fossa Meningioma | 1 | CTD_human |
Tgene | | C1565951 | Sphenoid Wing Meningioma | 1 | CTD_human |
Tgene | | C2931480 | Neurofibromatosis, Type 3, mixed central and peripheral | 1 | ORPHANET |
Tgene | | C3163622 | Papillary Meningioma | 1 | CTD_human |