Fusion gene information | Fusion gene name: ACTA2-ZNF331 |
Fusion gene ID: hg59tg55422 | | Hgene | Tgene | Gene symbol | ACTA2 | ZNF331 | Gene ID | 59 | 55422 | Gene name | actin alpha 2, smooth muscle | zinc finger protein 331 |
Synonyms | ACTSA | RITA|ZNF361|ZNF463 |
Cytomap | ('ACTA2')('ZNF331') 10q23.31 | 19q13.42 |
Type of gene | protein-coding | protein-coding |
Description | actin, aortic smooth muscleactin, alpha 2, smooth muscle, aortaalpha-cardiac actincell growth-inhibiting gene 46 protein | zinc finger protein 331C2H2-like zinc finger protein rearranged in thyroid adenomasKRAB zinc finger proteinzinc finger protein 361zinc finger protein 463 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000224784, ENST00000458208, ENST00000480297, | |
Fusion gene scores | * DoF score | 4 X 6 X 3=72 | 5 X 5 X 2=50 |
# samples | 6 | 5 |
** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 |
Context | PubMed: ACTA2 [Title/Abstract] AND ZNF331 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ACTA2(90694831)-ZNF331(54059759), # 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 | ACTA2 | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 7 | CLINGEN;GENOMICS_ENGLAND |
Hgene | ACTA2 | C2673186 | Aortic Aneurysm, Familial Thoracic 6 | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTA2 | C3279690 | MOYAMOYA DISEASE 5 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTA2 | C0023890 | Liver Cirrhosis | 3 | CTD_human |
Hgene | ACTA2 | C0239946 | Fibrosis, Liver | 3 | CTD_human |
Hgene | ACTA2 | C3151201 | MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME | 3 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ACTA2 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
Hgene | ACTA2 | C0026654 | Moyamoya Disease | 2 | GENOMICS_ENGLAND;ORPHANET |
Hgene | ACTA2 | C2931384 | Moyamoya disease 1 | 2 | ORPHANET |
Hgene | ACTA2 | C0005398 | Cholestasis, Extrahepatic | 1 | CTD_human |
Hgene | ACTA2 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | ACTA2 | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Hgene | ACTA2 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | ACTA2 | C0014175 | Endometriosis | 1 | CTD_human |
Hgene | ACTA2 | C0015934 | Fetal Growth Retardation | 1 | CTD_human |
Hgene | ACTA2 | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
Hgene | ACTA2 | C0019189 | Hepatitis, Chronic | 1 | CTD_human |
Hgene | ACTA2 | C0022116 | Ischemia | 1 | CTD_human |
Hgene | ACTA2 | C0022658 | Kidney Diseases | 1 | CTD_human |
Hgene | ACTA2 | C0023895 | Liver diseases | 1 | CTD_human |
Hgene | ACTA2 | C0027051 | Myocardial Infarction | 1 | CTD_human |
Hgene | ACTA2 | C0027719 | Nephrosclerosis | 1 | CTD_human |
Hgene | ACTA2 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Hgene | ACTA2 | C0036421 | Systemic Scleroderma | 1 | CTD_human |
Hgene | ACTA2 | C0041956 | Ureteral obstruction | 1 | CTD_human |
Hgene | ACTA2 | C0086432 | Hyalinosis, Segmental Glomerular | 1 | CTD_human |
Hgene | ACTA2 | C0086565 | Liver Dysfunction | 1 | CTD_human |
Hgene | ACTA2 | C0149519 | Chronic Persistent Hepatitis | 1 | CTD_human |
Hgene | ACTA2 | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
Hgene | ACTA2 | C0269102 | Endometrioma | 1 | CTD_human |
Hgene | ACTA2 | C0340630 | Aortic Aneurysm, Thoracoabdominal | 1 | CTD_human |
Hgene | ACTA2 | C0520463 | Chronic active hepatitis | 1 | CTD_human |
Hgene | ACTA2 | C0524611 | Cryptogenic Chronic Hepatitis | 1 | CTD_human |
Hgene | ACTA2 | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | ACTA2 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | ACTA2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | ACTA2 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |
Hgene | ACTA2 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |
Hgene | ACTA2 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Hgene | ACTA2 | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |
Tgene | | C0037274 | Dermatologic disorders | 1 | CTD_human |
Tgene | | C0274861 | Arsenic Poisoning, Inorganic | 1 | CTD_human |
Tgene | | C0274862 | Nervous System, Organic Arsenic Poisoning | 1 | CTD_human |
Tgene | | C0311375 | Arsenic Poisoning | 1 | CTD_human |
Tgene | | C0751851 | Arsenic Encephalopathy | 1 | CTD_human |
Tgene | | C0751852 | Arsenic Induced Polyneuropathy | 1 | CTD_human |