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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:EDNRB-C12orf60 (FusionGDB2 ID:HG1910TG144608)

Fusion Gene Summary for EDNRB-C12orf60

check button Fusion gene summary
Fusion gene informationFusion gene name: EDNRB-C12orf60
Fusion gene ID: hg1910tg144608
HgeneTgene
Gene symbol

EDNRB

C12orf60

Gene ID

1910

144608

Gene nameendothelin receptor type Bchromosome 12 open reading frame 60
SynonymsABCDS|ET-B|ET-BR|ETB|ETB1|ETBR|ETRB|HSCR|HSCR2|WS4A-
Cytomap('EDNRB')('C12orf60')

13q22.3

12p13.1-p12.3

Type of geneprotein-codingprotein-coding
Descriptionendothelin receptor type BHirschsprung disease 2endothelin receptor non-selective typeendothelin receptor subtype B1uncharacterized protein C12orf60
Modification date2020031520200313
UniProtAcc.

Q5U649

Ensembl transtripts involved in fusion geneENST00000334286, ENST00000377211, 
ENST00000446573, ENST00000475537, 
Fusion gene scores* DoF score4 X 4 X 3=488 X 8 X 4=256
# samples 48
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EDNRB [Title/Abstract] AND C12orf60 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEDNRB(78469622)-C12orf60(14932288), # 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
HgeneEDNRB

GO:0086100

endothelin receptor signaling pathway

1713452



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


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Fusion Gene ORF analysis for EDNRB-C12orf60

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

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Fusion Genomic Features for EDNRB-C12orf60


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)


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Fusion Protein Features for EDNRB-C12orf60


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/:78469622/:14932288)
- 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
.C12orf60

Q5U649

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


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Fusion Gene Sequence for EDNRB-C12orf60


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.

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Fusion Gene PPI Analysis for EDNRB-C12orf60


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


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Related Drugs for EDNRB-C12orf60


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

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Related Diseases for EDNRB-C12orf60


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEDNRBC1848519WAARDENBURG SYNDROME, TYPE 4A11CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneEDNRBC1838564HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 27GENOMICS_ENGLAND;UNIPROT
HgeneEDNRBC1838099ABCD syndrome3CTD_human;GENOMICS_ENGLAND
HgeneEDNRBC0085758Aganglionosis, Colonic2CTD_human;GENOMICS_ENGLAND
HgeneEDNRBC0006142Malignant neoplasm of breast1CTD_human
HgeneEDNRBC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneEDNRBC0018801Heart failure1CTD_human
HgeneEDNRBC0018802Congestive heart failure1CTD_human
HgeneEDNRBC0019284Diaphragmatic Hernia1CTD_human
HgeneEDNRBC0019569Hirschsprung Disease1CTD_human
HgeneEDNRBC0020542Pulmonary Hypertension1CTD_human
HgeneEDNRBC0023212Left-Sided Heart Failure1CTD_human
HgeneEDNRBC0027626Neoplasm Invasiveness1CTD_human
HgeneEDNRBC0027720Nephrosis1CTD_human
HgeneEDNRBC0038525Subarachnoid Hemorrhage1CTD_human
HgeneEDNRBC0235527Heart Failure, Right-Sided1CTD_human
HgeneEDNRBC0270192Perinatal Subarachnoid Hemorrhage1CTD_human
HgeneEDNRBC0472383Subarachnoid Hemorrhage, Spontaneous1CTD_human
HgeneEDNRBC0678222Breast Carcinoma1CTD_human
HgeneEDNRBC0751530Subarachnoid Hemorrhage, Aneurysmal1CTD_human
HgeneEDNRBC0795688Subarachnoid Hemorrhage, Intracranial1CTD_human
HgeneEDNRBC1257840Aganglionosis, Rectosigmoid Colon1CTD_human
HgeneEDNRBC1257931Mammary Neoplasms, Human1CTD_human
HgeneEDNRBC1458155Mammary Neoplasms1CTD_human
HgeneEDNRBC1959583Myocardial Failure1CTD_human
HgeneEDNRBC1961112Heart Decompensation1CTD_human
HgeneEDNRBC2700265Waardenburg Syndrome Type 21ORPHANET
HgeneEDNRBC3266898Waardenburg Syndrome1GENOMICS_ENGLAND;ORPHANET
HgeneEDNRBC3495676Anorectal Malformations1GENOMICS_ENGLAND
HgeneEDNRBC3661523Congenital Intestinal Aganglionosis1CTD_human
HgeneEDNRBC4704874Mammary Carcinoma, Human1CTD_human