Fusion gene information | Fusion gene name: BIRC6-RYR1 |
Fusion gene ID: hg57448tg6261 | | Hgene | Tgene | Gene symbol | BIRC6 | RYR1 | Gene ID | 57448 | 6261 | Gene name | baculoviral IAP repeat containing 6 | ryanodine receptor 1 |
Synonyms | APOLLON|BRUCE | CCO|MHS|MHS1|PPP1R137|RYDR|RYR|RYR-1|SKRR |
Cytomap | ('BIRC6')('RYR1') 2p22.3 | 19q13.2 |
Type of gene | protein-coding | protein-coding |
Description | baculoviral IAP repeat-containing protein 6BIR repeat-containing ubiquitin-conjugating enzymeRING-type E3 ubiquitin transferase BIRC6ubiquitin-conjugating BIR-domain enzyme apollon | ryanodine receptor 1central core disease of muscleprotein phosphatase 1, regulatory subunit 137ryanodine receptor 1 (skeletal)sarcoplasmic reticulum calcium release channelskeletal muscle calcium release channelskeletal muscle ryanodine receptortyp |
Modification date | 20200313 | 20200328 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000421745, | |
Fusion gene scores | * DoF score | 21 X 23 X 16=7728 | 11 X 9 X 5=495 |
# samples | 33 | 11 |
** MAII score | log2(33/7728*10)=-4.54955716458996 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/495*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: BIRC6 [Title/Abstract] AND RYR1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | BIRC6(32839663)-RYR1(39077004), # 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 |
Hgene | BIRC6 | C0006826 | Malignant Neoplasms | 1 | CTD_human |
Hgene | BIRC6 | C0027651 | Neoplasms | 1 | CTD_human |
Hgene | BIRC6 | C0086692 | Benign Neoplasm | 1 | CTD_human |
Tgene | | C2930980 | Malignant hyperthermia susceptibility type 1 | 46 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0751951 | Central Core Myopathy (disorder) | 32 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0024591 | Malignant hyperpyrexia due to anesthesia | 10 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C1850674 | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C1840365 | King Denborough syndrome | 2 | ORPHANET |
Tgene | | C3645536 | Autosomal Recessive Centronuclear Myopathy | 2 | CTD_human;ORPHANET |
Tgene | | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C0008928 | Cleidocranial Dysplasia | 1 | GENOMICS_ENGLAND |
Tgene | | C0175709 | Centronuclear myopathy | 1 | CTD_human |
Tgene | | C0265261 | Multiple pterygium syndrome | 1 | GENOMICS_ENGLAND |
Tgene | | C0270960 | Congenital myopathy (disorder) | 1 | GENOMICS_ENGLAND |
Tgene | | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C0410203 | X-linked centronuclear myopathy | 1 | CTD_human |
Tgene | | C0410204 | Myopathy, Centronuclear, Autosomal Recessive | 1 | ORPHANET |
Tgene | | C0410207 | Tubular Aggregate Myopathy | 1 | CTD_human |
Tgene | | C0546264 | Congenital Fiber Type Disproportion | 1 | CTD_human |
Tgene | | C0752282 | Congenital Structural Myopathy | 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 | | C1834558 | Myopathy, Centronuclear, Autosomal Dominant | 1 | CTD_human;ORPHANET |
Tgene | | C1854678 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | 1 | ORPHANET |
Tgene | | C1861753 | Multiminicore Disease, Moderate, with Hand Involvement | 1 | ORPHANET |
Tgene | | C3661489 | Autosomal Dominant Myotubular Myopathy | 1 | CTD_human |
Tgene | | C4551952 | Myopathy, Centronuclear, 1 | 1 | CTD_human |
Tgene | | C4706390 | Congenital myopathy with myasthenic-like onset | 1 | ORPHANET |
Tgene | | C4749502 | Benign Samaritan congenital myopathy | 1 | ORPHANET |