Fusion gene information | Fusion gene name: SERPINA1-ACO1 |
Fusion gene ID: hg5265tg48 | | Hgene | Tgene | Gene symbol | SERPINA1 | ACO1 | Gene ID | 5265 | 48 | Gene name | serpin family A member 1 | aconitase 1 |
Synonyms | A1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIF | ACONS|HEL60|IREB1|IREBP|IREBP1|IRP1 |
Cytomap | ('SERPINA1')('ACO1') 14q32.13 | 9p21.1 |
Type of gene | protein-coding | protein-coding |
Description | alpha-1-antitrypsinalpha-1 antitrypsinalpha-1 protease inhibitoralpha-1-antiproteinasealpha-1-antitrypsin nullalpha-1-antitrypsin short transcript variant 1C4alpha-1-antitrypsin short transcript variant 1C5epididymis secretory sperm binding protein | cytoplasmic aconitate hydrataseaconitase 1, solubleaconitate hydratase, cytoplasmiccitrate hydro-lyasecytoplasmic aconitasecytosplasmic aconitaseepididymis luminal protein 60epididymis secretory sperm binding proteinferritin repressor proteiniron |
Modification date | 20200327 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000355814, ENST00000393087, ENST00000393088, ENST00000402629, ENST00000404814, ENST00000437397, ENST00000440909, ENST00000448921, ENST00000449399, ENST00000555289,
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Fusion gene scores | * DoF score | 28 X 24 X 6=4032 | 9 X 12 X 5=540 |
# samples | 28 | 12 |
** MAII score | log2(28/4032*10)=-3.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/540*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: SERPINA1 [Title/Abstract] AND ACO1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | SERPINA1(94849000)-ACO1(32443261), # 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 | SERPINA1 | C0023895 | Liver diseases | 6 | CTD_human |
Hgene | SERPINA1 | C0086565 | Liver Dysfunction | 6 | CTD_human |
Hgene | SERPINA1 | C0221757 | alpha 1-Antitrypsin Deficiency | 6 | CTD_human;GENOMICS_ENGLAND |
Hgene | SERPINA1 | C0023890 | Liver Cirrhosis | 3 | CTD_human |
Hgene | SERPINA1 | C0239946 | Fibrosis, Liver | 3 | CTD_human |
Hgene | SERPINA1 | C0005586 | Bipolar Disorder | 2 | CTD_human;PSYGENET |
Hgene | SERPINA1 | C0024117 | Chronic Obstructive Airway Disease | 2 | CTD_human |
Hgene | SERPINA1 | C0030328 | Panniculitis, Nodular Nonsuppurative | 2 | CTD_human |
Hgene | SERPINA1 | C0525045 | Mood Disorders | 2 | PSYGENET |
Hgene | SERPINA1 | C1527303 | Chronic Airflow Obstruction | 2 | CTD_human |
Hgene | SERPINA1 | C2239176 | Liver carcinoma | 2 | CTD_human |
Hgene | SERPINA1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Hgene | SERPINA1 | C0003469 | Anxiety Disorders | 1 | CTD_human |
Hgene | SERPINA1 | C0003850 | Arteriosclerosis | 1 | CTD_human |
Hgene | SERPINA1 | C0003949 | Asbestosis | 1 | CTD_human |
Hgene | SERPINA1 | C0005587 | Depression, Bipolar | 1 | CTD_human |
Hgene | SERPINA1 | C0006267 | Bronchiectasis | 1 | CTD_human |
Hgene | SERPINA1 | C0008370 | Cholestasis | 1 | CTD_human |
Hgene | SERPINA1 | C0013221 | Drug toxicity | 1 | CTD_human |
Hgene | SERPINA1 | C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human |
Hgene | SERPINA1 | C0019080 | Hemorrhage | 1 | CTD_human |
Hgene | SERPINA1 | C0019693 | HIV Infections | 1 | CTD_human |
Hgene | SERPINA1 | C0020615 | Hypoglycemia | 1 | CTD_human |
Hgene | SERPINA1 | C0022660 | Kidney Failure, Acute | 1 | CTD_human |
Hgene | SERPINA1 | C0024115 | Lung diseases | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | SERPINA1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | SERPINA1 | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
Hgene | SERPINA1 | C0024713 | Manic Disorder | 1 | CTD_human |
Hgene | SERPINA1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | SERPINA1 | C0034067 | Pulmonary Emphysema | 1 | CTD_human |
Hgene | SERPINA1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Hgene | SERPINA1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | SERPINA1 | C0039841 | Thiamine Deficiency | 1 | CTD_human |
Hgene | SERPINA1 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Hgene | SERPINA1 | C0042384 | Vasculitis | 1 | CTD_human |
Hgene | SERPINA1 | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human |
Hgene | SERPINA1 | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human |
Hgene | SERPINA1 | C0205643 | Carcinoma, Cribriform | 1 | CTD_human |
Hgene | SERPINA1 | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human |
Hgene | SERPINA1 | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human |
Hgene | SERPINA1 | C0221227 | Centriacinar Emphysema | 1 | CTD_human |
Hgene | SERPINA1 | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | SERPINA1 | C0264393 | Panacinar Emphysema | 1 | CTD_human |
Hgene | SERPINA1 | C0270715 | Degenerative Diseases, Central Nervous System | 1 | CTD_human |
Hgene | SERPINA1 | C0271708 | Fasting Hypoglycemia | 1 | CTD_human |
Hgene | SERPINA1 | C0271710 | Reactive hypoglycemia | 1 | CTD_human |
Hgene | SERPINA1 | C0338831 | Manic | 1 | CTD_human |
Hgene | SERPINA1 | C0376280 | Anxiety States, Neurotic | 1 | CTD_human |
Hgene | SERPINA1 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
Hgene | SERPINA1 | C0751733 | Degenerative Diseases, Spinal Cord | 1 | CTD_human |
Hgene | SERPINA1 | C1279420 | Anxiety neurosis (finding) | 1 | CTD_human |
Hgene | SERPINA1 | C1565662 | Acute Kidney Insufficiency | 1 | CTD_human |
Hgene | SERPINA1 | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
Hgene | SERPINA1 | C2350878 | Focal Emphysema | 1 | CTD_human |
Hgene | SERPINA1 | C2609414 | Acute kidney injury | 1 | CTD_human |
Hgene | SERPINA1 | C2930617 | Pulmonary Fibrosis - from Asbestos Exposure | 1 | CTD_human |
Hgene | SERPINA1 | C2930967 | Gastro-enteropancreatic neuroendocrine tumor | 1 | CTD_human |
Hgene | SERPINA1 | C4505456 | HIV Coinfection | 1 | CTD_human |
Hgene | SERPINA1 | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |
Tgene | | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Tgene | | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |