Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:NRG1-BAP1 (FusionGDB2 ID:HG3084TG8314)

Fusion Gene Summary for NRG1-BAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: NRG1-BAP1
Fusion gene ID: hg3084tg8314
HgeneTgene
Gene symbol

NRG1

BAP1

Gene ID

3084

8314

Gene nameneuregulin 1BRCA1 associated protein 1
SynonymsARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|MST131|MSTP131|NDF|NRG1-IT2|SMDFHUCEP-13|UCHL2|hucep-6
Cytomap('NRG1')('BAP1')

8p12

3p21.1

Type of geneprotein-codingprotein-coding
Descriptionpro-neuregulin-1, membrane-bound isoformacetylcholine receptor-inducing activityglial growth factor 2heregulin, alpha (45kD, ERBB2 p185-activator)neu differentiation factorpro-NRG1sensory and motor neuron derived factorubiquitin carboxyl-terminal hydrolase BAP1BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)cerebral protein 6cerebral protein-13
Modification date2020032020200315
UniProtAcc

Q02297

.
Ensembl transtripts involved in fusion geneENST00000287842, ENST00000287845, 
ENST00000338921, ENST00000341377, 
ENST00000356819, ENST00000405005, 
ENST00000519301, ENST00000520407, 
ENST00000520502, ENST00000521670, 
ENST00000523079, ENST00000523681, 
ENST00000539990, 
Fusion gene scores* DoF score12 X 10 X 7=8405 X 5 X 2=50
# samples 125
** MAII scorelog2(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 breakpointNRG1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNRG1

GO:0003222

ventricular trabecula myocardium morphogenesis

17336907

HgeneNRG1

GO:0031334

positive regulation of protein complex assembly

10559227

HgeneNRG1

GO:0038127

ERBB signaling pathway

11389077

HgeneNRG1

GO:0038129

ERBB3 signaling pathway

27353365

HgeneNRG1

GO:0045892

negative regulation of transcription, DNA-templated

15073182

HgeneNRG1

GO:0051048

negative regulation of secretion

10559227

HgeneNRG1

GO:0060379

cardiac muscle cell myoblast differentiation

17336907

HgeneNRG1

GO:0060956

endocardial cell differentiation

17336907

TgeneBAP1

GO:0016579

protein deubiquitination

18757409|19815555

TgeneBAP1

GO:0035520

monoubiquitinated protein deubiquitination

24703950

TgeneBAP1

GO:0035522

monoubiquitinated histone H2A deubiquitination

20436459|25451922

TgeneBAP1

GO:0045892

negative regulation of transcription, DNA-templated

25451922



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


Top

Fusion Gene ORF analysis for NRG1-BAP1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for NRG1-BAP1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


Top

Fusion Protein Features for NRG1-BAP1


check button Four levels of functional features of fusion genes
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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NRG1

Q02297

.
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}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for NRG1-BAP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for NRG1-BAP1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for NRG1-BAP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for NRG1-BAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNRG1C0036341Schizophrenia7CTD_human
HgeneNRG1C0005586Bipolar Disorder5PSYGENET
HgeneNRG1C0024809Marijuana Abuse3PSYGENET
HgeneNRG1C0011570Mental Depression2PSYGENET
HgeneNRG1C0011581Depressive disorder2PSYGENET
HgeneNRG1C0006142Malignant neoplasm of breast1CTD_human
HgeneNRG1C0006870Cannabis Dependence1PSYGENET
HgeneNRG1C0007621Neoplastic Cell Transformation1CTD_human
HgeneNRG1C0011616Contact Dermatitis1CTD_human
HgeneNRG1C0018801Heart failure1CTD_human
HgeneNRG1C0018802Congestive heart failure1CTD_human
HgeneNRG1C0019569Hirschsprung Disease1CTD_human
HgeneNRG1C0023212Left-Sided Heart Failure1CTD_human
HgeneNRG1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneNRG1C0024121Lung Neoplasms1CTD_human
HgeneNRG1C0026650Movement Disorders1CTD_human
HgeneNRG1C0027626Neoplasm Invasiveness1CTD_human
HgeneNRG1C0030193Pain1CTD_human
HgeneNRG1C0032460Polycystic Ovary Syndrome1CTD_human
HgeneNRG1C0038358Gastric ulcer1CTD_human
HgeneNRG1C0085758Aganglionosis, Colonic1CTD_human
HgeneNRG1C0087031Juvenile-Onset Still Disease1CTD_human
HgeneNRG1C0162351Contact hypersensitivity1CTD_human
HgeneNRG1C0234230Pain, Burning1CTD_human
HgeneNRG1C0234238Ache1CTD_human
HgeneNRG1C0234254Radiating pain1CTD_human
HgeneNRG1C0235527Heart Failure, Right-Sided1CTD_human
HgeneNRG1C0236733Amphetamine-Related Disorders1CTD_human
HgeneNRG1C0236804Amphetamine Addiction1CTD_human
HgeneNRG1C0236807Amphetamine Abuse1CTD_human
HgeneNRG1C0242379Malignant neoplasm of lung1CTD_human
HgeneNRG1C0266487Etat Marbre1CTD_human
HgeneNRG1C0458257Pain, Splitting1CTD_human
HgeneNRG1C0458259Pain, Crushing1CTD_human
HgeneNRG1C0678222Breast Carcinoma1CTD_human
HgeneNRG1C0751407Pain, Migratory1CTD_human
HgeneNRG1C0751408Suffering, Physical1CTD_human
HgeneNRG1C0876994Cardiotoxicity1CTD_human
HgeneNRG1C1136382Sclerocystic Ovaries1CTD_human
HgeneNRG1C1257840Aganglionosis, Rectosigmoid Colon1CTD_human
HgeneNRG1C1257931Mammary Neoplasms, Human1CTD_human
HgeneNRG1C1458155Mammary Neoplasms1CTD_human
HgeneNRG1C1959583Myocardial Failure1CTD_human
HgeneNRG1C1961112Heart Decompensation1CTD_human
HgeneNRG1C3495559Juvenile arthritis1CTD_human
HgeneNRG1C3661523Congenital Intestinal Aganglionosis1CTD_human
HgeneNRG1C3714758Juvenile psoriatic arthritis1CTD_human
HgeneNRG1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneNRG1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
HgeneNRG1C4704874Mammary Carcinoma, Human1CTD_human
TgeneC3280492TUMOR PREDISPOSITION SYNDROME7CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0220633Uveal melanoma5CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0345967Malignant mesothelioma5CTD_human
TgeneC0007134Renal Cell Carcinoma4CTD_human
TgeneC0025500Mesothelioma4CGI;CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma4CGI;CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma4CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma4CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney4CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma4CTD_human
TgeneC0006142Malignant neoplasm of breast2CGI;CTD_human
TgeneC0024623Malignant neoplasm of stomach2CTD_human
TgeneC0038356Stomach Neoplasms2CTD_human
TgeneC0151779Cutaneous Melanoma2CGI;CTD_human;GENOMICS_ENGLAND
TgeneC0206698Cholangiocarcinoma2CTD_human
TgeneC0345905Intrahepatic Cholangiocarcinoma2CTD_human
TgeneC0346373Malignant melanoma of iris2ORPHANET
TgeneC0346388Malignant melanoma of choroid2ORPHANET
TgeneC0678222Breast Carcinoma2CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer2CTD_human
TgeneC3805278Extrahepatic Cholangiocarcinoma2CTD_human
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0005967Bone neoplasms1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0018671Head and Neck Neoplasms1CTD_human
TgeneC0018675Head Neoplasms1CTD_human
TgeneC0022665Kidney Neoplasm1CGI;CTD_human
TgeneC0023418leukemia1CTD_human
TgeneC0023798Lipoma1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0025286Meningioma1CTD_human;GENOMICS_ENGLAND
TgeneC0027533Neck Neoplasms1CTD_human
TgeneC0030297Pancreatic Neoplasm1CTD_human
TgeneC0030421Paraganglioma1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0039590Testicular Neoplasms1CTD_human
TgeneC0040100Thymoma1CTD_human
TgeneC0042138Uterine Neoplasms1CTD_human
TgeneC0085136Central Nervous System Neoplasms1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0153567Uterine Cancer1CTD_human
TgeneC0153594Malignant neoplasm of testis1CTD_human
TgeneC0205822Hibernoma1CTD_human
TgeneC0205823Pleomorphic Lipoma1CTD_human
TgeneC0205834Meningiomas, Multiple1CTD_human
TgeneC0205969Thymic Carcinoma1CTD_human
TgeneC0206686Adrenocortical carcinoma1CTD_human
TgeneC0206694Mucoepidermoid Carcinoma1CTD_human
TgeneC0206739Epithelioid and spindle cell nevus1CTD_human
TgeneC0206754Neuroendocrine Tumors1CTD_human
TgeneC0206769Nevi and Melanomas1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human;UNIPROT
TgeneC0259785Malignant Meningioma1CTD_human
TgeneC0278996Malignant Head and Neck Neoplasm1CTD_human
TgeneC0279530Malignant Bone Neoplasm1CTD_human
TgeneC0281784Benign Meningioma1CTD_human
TgeneC0334605Meningothelial meningioma1CTD_human
TgeneC0334606Fibrous Meningioma1CTD_human
TgeneC0334607Psammomatous Meningioma1CTD_human
TgeneC0334608Angiomatous Meningioma1CTD_human
TgeneC0334609Hemangioblastic Meningioma1CTD_human
TgeneC0334610Hemangiopericytic Meningioma1CTD_human
TgeneC0334611Transitional Meningioma1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CTD_human
TgeneC0347515Spinal Meningioma1CTD_human
TgeneC0349604Intracranial Meningioma1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0431121Clear Cell Meningioma1CTD_human
TgeneC0457190Xanthomatous Meningioma1CTD_human
TgeneC0740457Malignant neoplasm of kidney1CGI;CTD_human
TgeneC0746787Cancer of Neck1CTD_human
TgeneC0751177Cancer of Head1CTD_human
TgeneC0751303Cerebral Convexity Meningioma1CTD_human
TgeneC0751304Parasagittal Meningioma1CTD_human
TgeneC0751620Central Nervous System Neoplasms, Primary1CTD_human
TgeneC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1334261Intraorbital Meningioma1CTD_human
TgeneC1334271Intraventricular Meningioma1CTD_human
TgeneC1335107Olfactory Groove Meningioma1CTD_human
TgeneC1368275Pigmented Basal Cell Carcinoma1CTD_human
TgeneC1384406Secretory meningioma1CTD_human
TgeneC1384408Microcystic meningioma1CTD_human
TgeneC1527197Angioblastic Meningioma1CTD_human
TgeneC1565950Posterior Fossa Meningioma1CTD_human
TgeneC1565951Sphenoid Wing Meningioma1CTD_human
TgeneC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome1CLINGEN
TgeneC1720811Tumor of Rete Testis1CTD_human
TgeneC2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET
TgeneC2931822Nasopharyngeal carcinoma1CTD_human
TgeneC3163622Papillary Meningioma1CTD_human
TgeneC3489413Lipomatosis, Multiple1CTD_human
TgeneC4721806Carcinoma, Basal Cell1CTD_human