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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:UQCRC2-SEC31A (FusionGDB2 ID:97013)

Fusion Gene Summary for UQCRC2-SEC31A

check button Fusion gene summary
Fusion gene informationFusion gene name: UQCRC2-SEC31A
Fusion gene ID: 97013
HgeneTgene
Gene symbol

UQCRC2

SEC31A

Gene ID

7385

22872

Gene nameubiquinol-cytochrome c reductase core protein 2SEC31 homolog A, COPII coat complex component
SynonymsMC3DN5|QCR2|UQCR2ABP125|ABP130|HSPC275|HSPC334|NEDSOSB|SEC31L1
Cytomap

16p12.2

4q21.22

Type of geneprotein-codingprotein-coding
Descriptioncytochrome b-c1 complex subunit 2, mitochondrialcomplex III subunit 2cytochrome bc-1 complex core protein IIubiquinol-cytochrome c reductase core protein IIubiquinol-cytochrome-c reductase complex core protein 2protein transport protein Sec31ASEC31 homolog A, COPII coating complex componentSEC31-like protein 1SEC31-related protein Aweb1-like proteinyeast Sec31p homolog
Modification date2020031320200313
UniProtAcc.

O94979

Ensembl transtripts involved in fusion geneENST00000268379, ENST00000561553, 
ENST00000311785, ENST00000326950, 
ENST00000348405, ENST00000355196, 
ENST00000395310, ENST00000432794, 
ENST00000436790, ENST00000448323, 
ENST00000500777, ENST00000505472, 
ENST00000505984, ENST00000508479, 
ENST00000508502, ENST00000509142, 
ENST00000513858, ENST00000264405, 
ENST00000443462, 
Fusion gene scores* DoF score12 X 8 X 6=57627 X 19 X 11=5643
# samples 1328
** MAII scorelog2(13/576*10)=-2.14755718841386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(28/5643*10)=-4.33296361729939
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UQCRC2 [Title/Abstract] AND SEC31A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUQCRC2(21987564)-SEC31A(83803093), # samples:2
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
TgeneSEC31A

GO:0051592

response to calcium ion

17196169

TgeneSEC31A

GO:0090110

cargo loading into COPII-coated vesicle

17499046|18843296


check buttonFusion gene breakpoints across UQCRC2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SEC31A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4STADTCGA-BR-A4PD-01AUQCRC2chr16

21987564

+SEC31Achr4

83803093

-
ChimerDB4STADTCGA-BR-A4PDUQCRC2chr16

21987564

+SEC31Achr4

83803093

-


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Fusion Gene ORF analysis for UQCRC2-SEC31A

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
5CDS-5UTRENST00000268379ENST00000311785UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000326950UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000348405UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000355196UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000395310UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000432794UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000436790UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000448323UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000500777UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000505472UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000505984UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000508479UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000508502UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000509142UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000268379ENST00000513858UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000311785UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000326950UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000348405UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000355196UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000395310UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000432794UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000436790UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000448323UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000500777UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000505472UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000505984UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000508479UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000508502UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000509142UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-5UTRENST00000561553ENST00000513858UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-intronENST00000268379ENST00000264405UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-intronENST00000268379ENST00000443462UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-intronENST00000561553ENST00000264405UQCRC2chr16

21987564

+SEC31Achr4

83803093

-
5CDS-intronENST00000561553ENST00000443462UQCRC2chr16

21987564

+SEC31Achr4

83803093

-

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 UQCRC2-SEC31A


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for UQCRC2-SEC31A


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/:21987564/:83803093)
- 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
.SEC31A

O94979

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: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity). {ECO:0000250|UniProtKB:Q9Z2Q1, ECO:0000269|PubMed:10788476}.

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 UQCRC2-SEC31A


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 UQCRC2-SEC31A


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 UQCRC2-SEC31A


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 UQCRC2-SEC31A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource