Fusion gene information | Fusion gene name: CLYBL-TM9SF2 |
Fusion gene ID: hg171425tg9375 | | Hgene | Tgene | Gene symbol | CLYBL | TM9SF2 | Gene ID | 171425 | 9375 | Gene name | citramalyl-CoA lyase | transmembrane 9 superfamily member 2 |
Synonyms | CLB | P76 |
Cytomap | ('CLYBL')('TM9SF2') 13q32.3 | 13q32.3 |
Type of gene | protein-coding | protein-coding |
Description | citramalyl-CoA lyase, mitochondrial(3S)-malyl-CoA thioesterasebeta-methylmalate synthasecitrate lyase beta likecitrate lyase subunit beta-like protein, mitochondrialmalate synthase | transmembrane 9 superfamily member 276 kDa membrane proteindinucleotide oxidase disulfide thiol exchanger 3 superfamily member 2epididymis secretory sperm binding proteintransmembrane protein 9 superfamily member 2 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000339105, ENST00000376354, ENST00000376355, ENST00000376360, ENST00000444838, | ENST00000339105, ENST00000376354, ENST00000376355, ENST00000376360, ENST00000444838,
|
Fusion gene scores | * DoF score | 7 X 8 X 4=224 | 9 X 8 X 3=216 |
# samples | 8 | 9 |
** MAII score | log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: CLYBL [Title/Abstract] AND TM9SF2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | CLYBL(100269143)-TM9SF2(100185960), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | TM9SF2-CLYBL seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
|
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}. |