Fusion gene information | Fusion gene name: FAM120B-RPL37A |
Fusion gene ID: hg84498tg6168 | | Hgene | Tgene | Gene symbol | FAM120B | RPL37A | Gene ID | 84498 | 6168 | Gene name | family with sequence similarity 120B | ribosomal protein L37a |
Synonyms | CCPG|KIAA1838|PGCC1|SAN1|dJ894D12.1 | L37A |
Cytomap | ('FAM120B')('RPL37A') 6q27 | 2q35 |
Type of gene | protein-coding | protein-coding |
Description | constitutive coactivator of peroxisome proliferator-activated receptor gammaPPARG constitutive coactivator 1PPARgamma constitutive coactivator 1constitutive coactivator of PPAR-gammasenataxin-associated nuclease 1 | 60S ribosomal protein L37alarge ribosomal subunit protein eL43 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000252510, ENST00000476287, ENST00000496635, ENST00000537664, ENST00000540480, | ENST00000252510, ENST00000476287, ENST00000496635, ENST00000537664, ENST00000540480,
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Fusion gene scores | * DoF score | 15 X 10 X 4=600 | 23 X 13 X 5=1495 |
# samples | 14 | 26 |
** MAII score | log2(14/600*10)=-2.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(26/1495*10)=-2.52356195605701 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: FAM120B [Title/Abstract] AND RPL37A [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | FAM120B(170702235)-RPL37A(217366190), # 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}. |