Fusion gene information | Fusion gene name: TNRC6A-ACTG2 |
Fusion gene ID: hg27327tg72 | | Hgene | Tgene | Gene symbol | TNRC6A | ACTG2 | Gene ID | 27327 | 72 | Gene name | trinucleotide repeat containing adaptor 6A | actin gamma 2, smooth muscle |
Synonyms | CAGH26|FAME6|GW1|GW182|TNRC6 | ACT|ACTA3|ACTE|ACTL3|ACTSG|VSCM |
Cytomap | ('TNRC6A')('ACTG2') 16p12.1 | 2p13.1 |
Type of gene | protein-coding | protein-coding |
Description | trinucleotide repeat-containing gene 6A proteinCAG repeat protein 26CTD-2540M10.1EDIEEMSY interactor proteinGW182 autoantigenglycine-tryptophan protein of 182 kDatrinucleotide repeat containing 6A | actin, gamma-enteric smooth muscleactin, gamma 2, smooth muscle, entericactin-like proteinalpha-actin-3 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000315183, ENST00000395799, ENST00000432286, ENST00000562829,
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Fusion gene scores | * DoF score | 10 X 10 X 6=600 | 12 X 15 X 8=1440 |
# samples | 12 | 20 |
** MAII score | log2(12/600*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/1440*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: TNRC6A [Title/Abstract] AND ACTG2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | TNRC6A(24770977)-ACTG2(74129762), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
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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 | TNRC6A | C0014550 | Myoclonic Epilepsy | 1 | CTD_human |
Hgene | TNRC6A | C0338478 | Idiopathic Myoclonic Epilepsy | 1 | CTD_human |
Hgene | TNRC6A | C0338479 | Symptomatic Myoclonic Epilepsy | 1 | CTD_human |
Hgene | TNRC6A | C0393695 | Early Childhood Epilepsy, Myoclonic | 1 | CTD_human |
Hgene | TNRC6A | C0393702 | Myoclonic Astatic Epilepsy | 1 | CTD_human |
Hgene | TNRC6A | C0393703 | Myoclonic Absence Epilepsy | 1 | CTD_human |
Hgene | TNRC6A | C0438414 | Myoclonic Encephalopathy | 1 | CTD_human |
Hgene | TNRC6A | C0751120 | Benign Infantile Myoclonic Epilepsy | 1 | CTD_human |
Hgene | TNRC6A | C0751122 | Infantile Severe Myoclonic Epilepsy | 1 | CTD_human |
Hgene | TNRC6A | C0917800 | Epilepsy, Myoclonic, Infantile | 1 | CTD_human |
Tgene | | C0042781 | Visceral Myopathy | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C1608393 | Megacystis microcolon intestinal hypoperistalsis syndrome | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Tgene | | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | | C0266833 | Visceral Myopathy, Familial | 1 | CTD_human;ORPHANET |
Tgene | | C1835084 | Megaduodenum and-or Megacystis | 1 | ORPHANET |