Fusion gene information | Fusion gene name: ALB-BRINP3 |
Fusion gene ID: hg213tg339479 | | Hgene | Tgene | Gene symbol | ALB | BRINP3 | Gene ID | 213 | 339479 | Gene name | albumin | BMP/retinoic acid inducible neural specific 3 |
Synonyms | HSA|PRO0883|PRO0903|PRO1341 | DBCCR1L|DBCCR1L1|FAM5C |
Cytomap | ('ALB')('BRINP3') 4q13.3 | 1q31.1 |
Type of gene | protein-coding | protein-coding |
Description | serum albumin | BMP/retinoic acid-inducible neural-specific protein 3DBCCR1-like protein 1bone morphogenetic protein/retinoic acid inducible neural-specific 3family with sequence similarity 5, member Cprotein FAM5C |
Modification date | 20200329 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000295897, ENST00000401494, ENST00000415165, ENST00000503124, ENST00000505649, ENST00000509063,
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Fusion gene scores | * DoF score | 66 X 51 X 5=16830 | 5 X 5 X 1=25 |
# samples | 74 | 6 |
** MAII score | log2(74/16830*10)=-4.507366095701 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/25*10)=1.26303440583379 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 |
Context | PubMed: ALB [Title/Abstract] AND BRINP3 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ALB(74286033)-BRINP3(190300631), # 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 | ALB | C0033687 | Proteinuria | 9 | CTD_human |
Hgene | ALB | C0017658 | Glomerulonephritis | 8 | CTD_human |
Hgene | ALB | C0022658 | Kidney Diseases | 8 | CTD_human |
Hgene | ALB | C1704377 | Bright Disease | 8 | CTD_human |
Hgene | ALB | C0017665 | Membranous glomerulonephritis | 6 | CTD_human |
Hgene | ALB | C0027697 | Nephritis | 6 | CTD_human |
Hgene | ALB | C0086445 | Idiopathic Membranous Glomerulonephritis | 6 | CTD_human |
Hgene | ALB | C0342185 | Hyperthyroxinemia, Familial Dysalbuminemic | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ALB | C1704378 | Heymann Nephritis | 6 | CTD_human |
Hgene | ALB | C0022660 | Kidney Failure, Acute | 4 | CTD_human |
Hgene | ALB | C0027707 | Nephritis, Interstitial | 4 | CTD_human |
Hgene | ALB | C0038454 | Cerebrovascular accident | 4 | CTD_human |
Hgene | ALB | C0041349 | Nephritis, Tubulointerstitial | 4 | CTD_human |
Hgene | ALB | C0751956 | Acute Cerebrovascular Accidents | 4 | CTD_human |
Hgene | ALB | C1565662 | Acute Kidney Insufficiency | 4 | CTD_human |
Hgene | ALB | C2609414 | Acute kidney injury | 4 | CTD_human |
Hgene | ALB | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
Hgene | ALB | C0025290 | Aseptic Meningitis | 3 | CTD_human |
Hgene | ALB | C0013221 | Drug toxicity | 2 | CTD_human |
Hgene | ALB | C0014544 | Epilepsy | 2 | CTD_human |
Hgene | ALB | C0019193 | Hepatitis, Toxic | 2 | CTD_human |
Hgene | ALB | C0020649 | Hypotension | 2 | CTD_human |
Hgene | ALB | C0023890 | Liver Cirrhosis | 2 | CTD_human |
Hgene | ALB | C0027726 | Nephrotic Syndrome | 2 | CTD_human |
Hgene | ALB | C0036830 | Serum Sickness | 2 | CTD_human |
Hgene | ALB | C0041755 | Adverse reaction to drug | 2 | CTD_human |
Hgene | ALB | C0086237 | Epilepsy, Cryptogenic | 2 | CTD_human |
Hgene | ALB | C0162557 | Liver Failure, Acute | 2 | CTD_human |
Hgene | ALB | C0236018 | Aura | 2 | CTD_human |
Hgene | ALB | C0239946 | Fibrosis, Liver | 2 | CTD_human |
Hgene | ALB | C0751111 | Awakening Epilepsy | 2 | CTD_human |
Hgene | ALB | C0860207 | Drug-Induced Liver Disease | 2 | CTD_human |
Hgene | ALB | C0878666 | Analbuminemia | 2 | ORPHANET |
Hgene | ALB | C1262760 | Hepatitis, Drug-Induced | 2 | CTD_human |
Hgene | ALB | C3658290 | Drug-Induced Acute Liver Injury | 2 | CTD_human |
Hgene | ALB | C4277682 | Chemical and Drug Induced Liver Injury | 2 | CTD_human |
Hgene | ALB | C4279912 | Chemically-Induced Liver Toxicity | 2 | CTD_human |
Hgene | ALB | C0002994 | Angioedema | 1 | CTD_human |
Hgene | ALB | C0003460 | Anuria | 1 | CTD_human |
Hgene | ALB | C0003865 | Arthritis, Adjuvant-Induced | 1 | CTD_human |
Hgene | ALB | C0004509 | Azoospermia | 1 | CTD_human |
Hgene | ALB | C0005398 | Cholestasis, Extrahepatic | 1 | CTD_human |
Hgene | ALB | C0006111 | Brain Diseases | 1 | CTD_human |
Hgene | ALB | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
Hgene | ALB | C0007786 | Brain Ischemia | 1 | CTD_human |
Hgene | ALB | C0008312 | Primary biliary cirrhosis | 1 | CTD_human |
Hgene | ALB | C0011573 | Endogenous depression | 1 | CTD_human |
Hgene | ALB | C0011581 | Depressive disorder | 1 | CTD_human |
Hgene | ALB | C0011875 | Diabetic Angiopathies | 1 | CTD_human |
Hgene | ALB | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
Hgene | ALB | C0013502 | Echinococcosis | 1 | CTD_human |
Hgene | ALB | C0014518 | Toxic Epidermal Necrolysis | 1 | CTD_human |
Hgene | ALB | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | ALB | C0017662 | Glomerulonephritis, Membranoproliferative | 1 | CTD_human |
Hgene | ALB | C0017667 | Nodular glomerulosclerosis | 1 | CTD_human |
Hgene | ALB | C0018799 | Heart Diseases | 1 | CTD_human |
Hgene | ALB | C0018801 | Heart failure | 1 | CTD_human |
Hgene | ALB | C0018802 | Congestive heart failure | 1 | CTD_human |
Hgene | ALB | C0019061 | Hemolytic-Uremic Syndrome | 1 | CTD_human |
Hgene | ALB | C0019158 | Hepatitis | 1 | CTD_human |
Hgene | ALB | C0019209 | Hepatomegaly | 1 | CTD_human |
Hgene | ALB | C0019693 | HIV Infections | 1 | CTD_human |
Hgene | ALB | C0019699 | HIV Seropositivity | 1 | CTD_human |
Hgene | ALB | C0020517 | Hypersensitivity | 1 | CTD_human |
Hgene | ALB | C0020522 | Delayed Hypersensitivity | 1 | CTD_human |
Hgene | ALB | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | ALB | C0022548 | Keloid | 1 | CTD_human |
Hgene | ALB | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
Hgene | ALB | C0023212 | Left-Sided Heart Failure | 1 | CTD_human |
Hgene | ALB | C0023892 | Biliary cirrhosis | 1 | CTD_human |
Hgene | ALB | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
Hgene | ALB | C0025193 | Melancholia | 1 | CTD_human |
Hgene | ALB | C0025945 | Microangiopathy, Diabetic | 1 | CTD_human |
Hgene | ALB | C0026848 | Myopathy | 1 | CTD_human |
Hgene | ALB | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
Hgene | ALB | C0027720 | Nephrosis | 1 | CTD_human |
Hgene | ALB | C0028797 | Occupational Diseases | 1 | CTD_human |
Hgene | ALB | C0030193 | Pain | 1 | CTD_human |
Hgene | ALB | C0030286 | Pancreatic Diseases | 1 | CTD_human |
Hgene | ALB | C0030305 | Pancreatitis | 1 | CTD_human |
Hgene | ALB | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
Hgene | ALB | C0035242 | Respiratory Tract Diseases | 1 | CTD_human |
Hgene | ALB | C0035457 | Rhinitis, Allergic, Perennial | 1 | CTD_human |
Hgene | ALB | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
Hgene | ALB | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | ALB | C0040034 | Thrombocytopenia | 1 | CTD_human |
Hgene | ALB | C0041696 | Unipolar Depression | 1 | CTD_human |
Hgene | ALB | C0042109 | Urticaria | 1 | CTD_human |
Hgene | ALB | C0042164 | Uveitis | 1 | CTD_human |
Hgene | ALB | C0085584 | Encephalopathies | 1 | CTD_human |
Hgene | ALB | C0086133 | Depressive Syndrome | 1 | CTD_human |
Hgene | ALB | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Hgene | ALB | C0234230 | Pain, Burning | 1 | CTD_human |
Hgene | ALB | C0234238 | Ache | 1 | CTD_human |
Hgene | ALB | C0234254 | Radiating pain | 1 | CTD_human |
Hgene | ALB | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human |
Hgene | ALB | C0238065 | Secondary Biliary Cholangitis | 1 | CTD_human |
Hgene | ALB | C0239981 | Hypoalbuminemia | 1 | CTD_human |
Hgene | ALB | C0268742 | Membranoproliferative Glomerulonephritis, Type I | 1 | CTD_human |
Hgene | ALB | C0268743 | Membranoproliferative Glomerulonephritis, Type II | 1 | CTD_human |
Hgene | ALB | C0273115 | Lung Injury | 1 | CTD_human |
Hgene | ALB | C0282126 | Depression, Neurotic | 1 | CTD_human |
Hgene | ALB | C0458257 | Pain, Splitting | 1 | CTD_human |
Hgene | ALB | C0458259 | Pain, Crushing | 1 | CTD_human |
Hgene | ALB | C0751407 | Pain, Migratory | 1 | CTD_human |
Hgene | ALB | C0751408 | Suffering, Physical | 1 | CTD_human |
Hgene | ALB | C0917798 | Cerebral Ischemia | 1 | CTD_human |
Hgene | ALB | C0971858 | Arthritis, Collagen-Induced | 1 | CTD_human |
Hgene | ALB | C0993582 | Arthritis, Experimental | 1 | CTD_human |
Hgene | ALB | C1274933 | Drug-Induced Stevens Johnson Syndrome | 1 | CTD_human |
Hgene | ALB | C1306571 | Hepatic Insufficiency | 1 | CTD_human |
Hgene | ALB | C1527304 | Allergic Reaction | 1 | CTD_human |
Hgene | ALB | C1623038 | Cirrhosis | 1 | CTD_human |
Hgene | ALB | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
Hgene | ALB | C1720821 | Membranoproliferative Glomerulonephritis, Type III | 1 | CTD_human |
Hgene | ALB | C1959583 | Myocardial Failure | 1 | CTD_human |
Hgene | ALB | C1961112 | Heart Decompensation | 1 | CTD_human |
Hgene | ALB | C2350344 | Chronic Lung Injury | 1 | CTD_human |
Hgene | ALB | C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | 1 | CTD_human |
Hgene | ALB | C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | 1 | CTD_human |
Hgene | ALB | C4505456 | HIV Coinfection | 1 | CTD_human |
Hgene | ALB | C4551595 | Biliary Cirrhosis, Primary, 1 | 1 | CTD_human |
Hgene | ALB | C4553297 | Cystic Echinocccosis | 1 | CTD_human |