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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:NRG1-BAP1 (FusionGDB2 ID:HG3084TG8314) |
Fusion Gene Summary for NRG1-BAP1 |
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Fusion gene information | Fusion gene name: NRG1-BAP1 | Fusion gene ID: hg3084tg8314 | Hgene | Tgene | Gene symbol | NRG1 | BAP1 | Gene ID | 3084 | 8314 |
Gene name | neuregulin 1 | BRCA1 associated protein 1 | |
Synonyms | ARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|MST131|MSTP131|NDF|NRG1-IT2|SMDF | HUCEP-13|UCHL2|hucep-6 | |
Cytomap | ('NRG1')('BAP1') 8p12 | 3p21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | pro-neuregulin-1, membrane-bound isoformacetylcholine receptor-inducing activityglial growth factor 2heregulin, alpha (45kD, ERBB2 p185-activator)neu differentiation factorpro-NRG1sensory and motor neuron derived factor | ubiquitin carboxyl-terminal hydrolase BAP1BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)cerebral protein 6cerebral protein-13 | |
Modification date | 20200320 | 20200315 | |
UniProtAcc | Q02297 | . | |
Ensembl transtripts involved in fusion gene | ENST00000287842, ENST00000287845, ENST00000338921, ENST00000341377, ENST00000356819, ENST00000405005, ENST00000519301, ENST00000520407, ENST00000520502, ENST00000521670, ENST00000523079, ENST00000523681, ENST00000539990, | ||
Fusion gene scores | * DoF score | 12 X 10 X 7=840 | 5 X 5 X 2=50 |
# samples | 12 | 5 | |
** MAII score | log2(12/840*10)=-2.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 | |
Context | PubMed: NRG1 [Title/Abstract] AND BAP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | NRG1(32100948)-BAP1(52435036), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NRG1 | GO:0003222 | ventricular trabecula myocardium morphogenesis | 17336907 |
Hgene | NRG1 | GO:0031334 | positive regulation of protein complex assembly | 10559227 |
Hgene | NRG1 | GO:0038127 | ERBB signaling pathway | 11389077 |
Hgene | NRG1 | GO:0038129 | ERBB3 signaling pathway | 27353365 |
Hgene | NRG1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15073182 |
Hgene | NRG1 | GO:0051048 | negative regulation of secretion | 10559227 |
Hgene | NRG1 | GO:0060379 | cardiac muscle cell myoblast differentiation | 17336907 |
Hgene | NRG1 | GO:0060956 | endocardial cell differentiation | 17336907 |
Tgene | BAP1 | GO:0016579 | protein deubiquitination | 18757409|19815555 |
Tgene | BAP1 | GO:0035520 | monoubiquitinated protein deubiquitination | 24703950 |
Tgene | BAP1 | GO:0035522 | monoubiquitinated histone H2A deubiquitination | 20436459|25451922 |
Tgene | BAP1 | GO:0045892 | negative regulation of transcription, DNA-templated | 25451922 |
![]() * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for NRG1-BAP1 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for NRG1-BAP1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for NRG1-BAP1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:32100948/:52435036) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
NRG1 | . |
FUNCTION: Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development. Binds to ERBB4 (PubMed:10867024, PubMed:7902537). Binds to ERBB3 (PubMed:20682778). Acts as a ligand for integrins and binds (via EGF domain) to integrins ITGAV:ITGB3 or ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and ERRB3 are essential for NRG1-ERBB signaling. Induces the phosphorylation and activation of MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:20682778). Ligand-dependent ERBB4 endocytosis is essential for the NRG1-mediated activation of these kinases in neurons (By similarity). {ECO:0000250|UniProtKB:P43322, ECO:0000269|PubMed:10867024, ECO:0000269|PubMed:1348215, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:7902537}. | 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}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for NRG1-BAP1 |
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Fusion Gene PPI Analysis for NRG1-BAP1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for NRG1-BAP1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NRG1-BAP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NRG1 | C0036341 | Schizophrenia | 7 | CTD_human |
Hgene | NRG1 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
Hgene | NRG1 | C0024809 | Marijuana Abuse | 3 | PSYGENET |
Hgene | NRG1 | C0011570 | Mental Depression | 2 | PSYGENET |
Hgene | NRG1 | C0011581 | Depressive disorder | 2 | PSYGENET |
Hgene | NRG1 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | NRG1 | C0006870 | Cannabis Dependence | 1 | PSYGENET |
Hgene | NRG1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | NRG1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
Hgene | NRG1 | C0018801 | Heart failure | 1 | CTD_human |
Hgene | NRG1 | C0018802 | Congestive heart failure | 1 | CTD_human |
Hgene | NRG1 | C0019569 | Hirschsprung Disease | 1 | CTD_human |
Hgene | NRG1 | C0023212 | Left-Sided Heart Failure | 1 | CTD_human |
Hgene | NRG1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | NRG1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | NRG1 | C0026650 | Movement Disorders | 1 | CTD_human |
Hgene | NRG1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | NRG1 | C0030193 | Pain | 1 | CTD_human |
Hgene | NRG1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Hgene | NRG1 | C0038358 | Gastric ulcer | 1 | CTD_human |
Hgene | NRG1 | C0085758 | Aganglionosis, Colonic | 1 | CTD_human |
Hgene | NRG1 | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
Hgene | NRG1 | C0162351 | Contact hypersensitivity | 1 | CTD_human |
Hgene | NRG1 | C0234230 | Pain, Burning | 1 | CTD_human |
Hgene | NRG1 | C0234238 | Ache | 1 | CTD_human |
Hgene | NRG1 | C0234254 | Radiating pain | 1 | CTD_human |
Hgene | NRG1 | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human |
Hgene | NRG1 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Hgene | NRG1 | C0236804 | Amphetamine Addiction | 1 | CTD_human |
Hgene | NRG1 | C0236807 | Amphetamine Abuse | 1 | CTD_human |
Hgene | NRG1 | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | NRG1 | C0266487 | Etat Marbre | 1 | CTD_human |
Hgene | NRG1 | C0458257 | Pain, Splitting | 1 | CTD_human |
Hgene | NRG1 | C0458259 | Pain, Crushing | 1 | CTD_human |
Hgene | NRG1 | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | NRG1 | C0751407 | Pain, Migratory | 1 | CTD_human |
Hgene | NRG1 | C0751408 | Suffering, Physical | 1 | CTD_human |
Hgene | NRG1 | C0876994 | Cardiotoxicity | 1 | CTD_human |
Hgene | NRG1 | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
Hgene | NRG1 | C1257840 | Aganglionosis, Rectosigmoid Colon | 1 | CTD_human |
Hgene | NRG1 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | NRG1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | NRG1 | C1959583 | Myocardial Failure | 1 | CTD_human |
Hgene | NRG1 | C1961112 | Heart Decompensation | 1 | CTD_human |
Hgene | NRG1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Hgene | NRG1 | C3661523 | Congenital Intestinal Aganglionosis | 1 | CTD_human |
Hgene | NRG1 | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
Hgene | NRG1 | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
Hgene | NRG1 | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |
Hgene | NRG1 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Tgene | C3280492 | TUMOR PREDISPOSITION SYNDROME | 7 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0220633 | Uveal melanoma | 5 | CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0345967 | Malignant mesothelioma | 5 | CTD_human | |
Tgene | C0007134 | Renal Cell Carcinoma | 4 | CTD_human | |
Tgene | C0025500 | Mesothelioma | 4 | CGI;CTD_human | |
Tgene | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 4 | CGI;CTD_human | |
Tgene | C1266042 | Chromophobe Renal Cell Carcinoma | 4 | CTD_human | |
Tgene | C1266043 | Sarcomatoid Renal Cell Carcinoma | 4 | CTD_human | |
Tgene | C1266044 | Collecting Duct Carcinoma of the Kidney | 4 | CTD_human | |
Tgene | C1306837 | Papillary Renal Cell Carcinoma | 4 | CTD_human | |
Tgene | C0006142 | Malignant neoplasm of breast | 2 | CGI;CTD_human | |
Tgene | C0024623 | Malignant neoplasm of stomach | 2 | CTD_human | |
Tgene | C0038356 | Stomach Neoplasms | 2 | CTD_human | |
Tgene | C0151779 | Cutaneous Melanoma | 2 | CGI;CTD_human;GENOMICS_ENGLAND | |
Tgene | C0206698 | Cholangiocarcinoma | 2 | CTD_human | |
Tgene | C0345905 | Intrahepatic Cholangiocarcinoma | 2 | CTD_human | |
Tgene | C0346373 | Malignant melanoma of iris | 2 | ORPHANET | |
Tgene | C0346388 | Malignant melanoma of choroid | 2 | ORPHANET | |
Tgene | C0678222 | Breast Carcinoma | 2 | CGI;CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 2 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 2 | CTD_human | |
Tgene | C1708349 | Hereditary Diffuse Gastric Cancer | 2 | CTD_human | |
Tgene | C3805278 | Extrahepatic Cholangiocarcinoma | 2 | CTD_human | |
Tgene | C4704874 | Mammary Carcinoma, Human | 2 | CTD_human | |
Tgene | C0005684 | Malignant neoplasm of urinary bladder | 1 | CTD_human | |
Tgene | C0005695 | Bladder Neoplasm | 1 | CTD_human | |
Tgene | C0005967 | Bone neoplasms | 1 | CTD_human | |
Tgene | C0007102 | Malignant tumor of colon | 1 | CTD_human | |
Tgene | C0009375 | Colonic Neoplasms | 1 | CTD_human | |
Tgene | C0018671 | Head and Neck Neoplasms | 1 | CTD_human | |
Tgene | C0018675 | Head Neoplasms | 1 | CTD_human | |
Tgene | C0022665 | Kidney Neoplasm | 1 | CGI;CTD_human | |
Tgene | C0023418 | leukemia | 1 | CTD_human | |
Tgene | C0023798 | Lipoma | 1 | CTD_human | |
Tgene | C0023903 | Liver neoplasms | 1 | CTD_human | |
Tgene | C0024121 | Lung Neoplasms | 1 | CTD_human | |
Tgene | C0025286 | Meningioma | 1 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0027533 | Neck Neoplasms | 1 | CTD_human | |
Tgene | C0030297 | Pancreatic Neoplasm | 1 | CTD_human | |
Tgene | C0030421 | Paraganglioma | 1 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0039590 | Testicular Neoplasms | 1 | CTD_human | |
Tgene | C0040100 | Thymoma | 1 | CTD_human | |
Tgene | C0042138 | Uterine Neoplasms | 1 | CTD_human | |
Tgene | C0085136 | Central Nervous System Neoplasms | 1 | CTD_human | |
Tgene | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human | |
Tgene | C0153567 | Uterine Cancer | 1 | CTD_human | |
Tgene | C0153594 | Malignant neoplasm of testis | 1 | CTD_human | |
Tgene | C0205822 | Hibernoma | 1 | CTD_human | |
Tgene | C0205823 | Pleomorphic Lipoma | 1 | CTD_human | |
Tgene | C0205834 | Meningiomas, Multiple | 1 | CTD_human | |
Tgene | C0205969 | Thymic Carcinoma | 1 | CTD_human | |
Tgene | C0206686 | Adrenocortical carcinoma | 1 | CTD_human | |
Tgene | C0206694 | Mucoepidermoid Carcinoma | 1 | CTD_human | |
Tgene | C0206739 | Epithelioid and spindle cell nevus | 1 | CTD_human | |
Tgene | C0206754 | Neuroendocrine Tumors | 1 | CTD_human | |
Tgene | C0206769 | Nevi and Melanomas | 1 | CTD_human | |
Tgene | C0242379 | Malignant neoplasm of lung | 1 | CTD_human;UNIPROT | |
Tgene | C0259785 | Malignant Meningioma | 1 | CTD_human | |
Tgene | C0278996 | Malignant Head and Neck Neoplasm | 1 | CTD_human | |
Tgene | C0279530 | Malignant Bone Neoplasm | 1 | CTD_human | |
Tgene | C0281784 | Benign Meningioma | 1 | CTD_human | |
Tgene | C0334605 | Meningothelial meningioma | 1 | CTD_human | |
Tgene | C0334606 | Fibrous Meningioma | 1 | CTD_human | |
Tgene | C0334607 | Psammomatous Meningioma | 1 | CTD_human | |
Tgene | C0334608 | Angiomatous Meningioma | 1 | CTD_human | |
Tgene | C0334609 | Hemangioblastic Meningioma | 1 | CTD_human | |
Tgene | C0334610 | Hemangiopericytic Meningioma | 1 | CTD_human | |
Tgene | C0334611 | Transitional Meningioma | 1 | CTD_human | |
Tgene | C0345904 | Malignant neoplasm of liver | 1 | CTD_human | |
Tgene | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human | |
Tgene | C0347515 | Spinal Meningioma | 1 | CTD_human | |
Tgene | C0349604 | Intracranial Meningioma | 1 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C0431121 | Clear Cell Meningioma | 1 | CTD_human | |
Tgene | C0457190 | Xanthomatous Meningioma | 1 | CTD_human | |
Tgene | C0740457 | Malignant neoplasm of kidney | 1 | CGI;CTD_human | |
Tgene | C0746787 | Cancer of Neck | 1 | CTD_human | |
Tgene | C0751177 | Cancer of Head | 1 | CTD_human | |
Tgene | C0751303 | Cerebral Convexity Meningioma | 1 | CTD_human | |
Tgene | C0751304 | Parasagittal Meningioma | 1 | CTD_human | |
Tgene | C0751620 | Central Nervous System Neoplasms, Primary | 1 | CTD_human | |
Tgene | C0887900 | Upper Aerodigestive Tract Neoplasms | 1 | CTD_human | |
Tgene | C0919267 | ovarian neoplasm | 1 | CTD_human | |
Tgene | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human | |
Tgene | C1334261 | Intraorbital Meningioma | 1 | CTD_human | |
Tgene | C1334271 | Intraventricular Meningioma | 1 | CTD_human | |
Tgene | C1335107 | Olfactory Groove Meningioma | 1 | CTD_human | |
Tgene | C1368275 | Pigmented Basal Cell Carcinoma | 1 | CTD_human | |
Tgene | C1384406 | Secretory meningioma | 1 | CTD_human | |
Tgene | C1384408 | Microcystic meningioma | 1 | CTD_human | |
Tgene | C1527197 | Angioblastic Meningioma | 1 | CTD_human | |
Tgene | C1565950 | Posterior Fossa Meningioma | 1 | CTD_human | |
Tgene | C1565951 | Sphenoid Wing Meningioma | 1 | CTD_human | |
Tgene | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 1 | CLINGEN | |
Tgene | C1720811 | Tumor of Rete Testis | 1 | CTD_human | |
Tgene | C2314896 | Familial Atypical Mole Melanoma Syndrome | 1 | ORPHANET | |
Tgene | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human | |
Tgene | C3163622 | Papillary Meningioma | 1 | CTD_human | |
Tgene | C3489413 | Lipomatosis, Multiple | 1 | CTD_human | |
Tgene | C4721806 | Carcinoma, Basal Cell | 1 | CTD_human |