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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:ELN-BLOC1S5-TXNDC5 (FusionGDB2 ID:HG2006TG100526836)

Fusion Gene Summary for ELN-BLOC1S5-TXNDC5

check button Fusion gene summary
Fusion gene informationFusion gene name: ELN-BLOC1S5-TXNDC5
Fusion gene ID: hg2006tg100526836
HgeneTgene
Gene symbol

ELN

BLOC1S5-TXNDC5

Gene ID

2006

100526836

Gene nameelastinBLOC1S5-TXNDC5 readthrough (NMD candidate)
SynonymsADCL1|SVAS|WBS|WSMUTED-TXNDC5
Cytomap('ELN')('BLOC1S5-TXNDC5')

7q11.23

6p24.3

Type of geneprotein-codingncRNA
DescriptionelastintropoelastinBLOC1S5-TXNDC5 readthrough (non-protein coding)MUTED-TXNDC5 readthrough (non-protein coding)
Modification date2020031320200313
UniProtAcc

P15502

.
Ensembl transtripts involved in fusion geneENST00000252034, ENST00000320399, 
ENST00000320492, ENST00000357036, 
ENST00000358929, ENST00000380562, 
ENST00000380575, ENST00000380576, 
ENST00000380584, ENST00000414324, 
ENST00000429192, ENST00000445912, 
ENST00000458204, ENST00000380553, 
ENST00000466878, 
Fusion gene scores* DoF score9 X 7 X 4=2527 X 8 X 1=56
# samples 98
** MAII scorelog2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/56*10)=0.514573172829758
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ELN [Title/Abstract] AND BLOC1S5-TXNDC5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointELN(73457034)-BLOC1S5-TXNDC5(7910891), # 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


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 ELN-BLOC1S5-TXNDC5

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 ELN-BLOC1S5-TXNDC5


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 ELN-BLOC1S5-TXNDC5


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/:73457034/:7910891)
- 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
ELN

P15502

.
FUNCTION: Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity). {ECO:0000250|UniProtKB:P54320}.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 ELN-BLOC1S5-TXNDC5


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 ELN-BLOC1S5-TXNDC5


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 ELN-BLOC1S5-TXNDC5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneELNP15502DB00533RofecoxibOther/unknownSmall moleculeApproved|Investigational|Withdrawn

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Related Diseases for ELN-BLOC1S5-TXNDC5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneELNC0003499Supravalvular aortic stenosis7CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneELNC0010495Cutis Laxa2CTD_human;GENOMICS_ENGLAND
HgeneELNC0034069Pulmonary Fibrosis2CTD_human
HgeneELNC0268350Cutis Laxa, Autosomal Dominant2CTD_human;ORPHANET
HgeneELNC1305147Congenital supravalvular aortic stenosis2ORPHANET
HgeneELNC4721507Alveolitis, Fibrosing2CTD_human
HgeneELNC0019284Diaphragmatic Hernia1CTD_human
HgeneELNC0020538Hypertensive disease1CTD_human
HgeneELNC0024117Chronic Obstructive Airway Disease1CTD_human
HgeneELNC0026654Moyamoya Disease1GENOMICS_ENGLAND
HgeneELNC0034067Pulmonary Emphysema1CTD_human
HgeneELNC0151744Myocardial Ischemia1CTD_human
HgeneELNC0221227Centriacinar Emphysema1CTD_human
HgeneELNC0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
HgeneELNC0264393Panacinar Emphysema1CTD_human
HgeneELNC1527303Chronic Airflow Obstruction1CTD_human
HgeneELNC1862932ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)1GENOMICS_ENGLAND
HgeneELNC2350878Focal Emphysema1CTD_human
HgeneELNC3276539CUTIS LAXA, AUTOSOMAL DOMINANT 11GENOMICS_ENGLAND
HgeneELNC4317009Diverticular Diseases1CTD_human
HgeneELNC4505353Diverticular Bleeding1CTD_human
HgeneELNC4707243Familial thoracic aortic aneurysm and aortic dissection1GENOMICS_ENGLAND;ORPHANET