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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:CCNE1-HIGD1A (FusionGDB2 ID:14129)

Fusion Gene Summary for CCNE1-HIGD1A

check button Fusion gene summary
Fusion gene informationFusion gene name: CCNE1-HIGD1A
Fusion gene ID: 14129
HgeneTgene
Gene symbol

CCNE1

HIGD1A

Gene ID

898

25994

Gene namecyclin E1HIG1 hypoxia inducible domain family member 1A
SynonymsCCNE|pCCNE1HIG1|RCF1a
Cytomap

19q12

3p22.1

Type of geneprotein-codingprotein-coding
DescriptionG1/S-specific cyclin-E1HIG1 domain family member 1A, mitochondrialHIG1 domain family, member 1ARCF1 homolog Ahypoxia inducible gene 1hypoxia-inducible gene 1 protein
Modification date2020032920200313
UniProtAcc

P24864

Q9Y241

Ensembl transtripts involved in fusion geneENST00000262643, ENST00000357943, 
ENST00000444983, 
ENST00000321331, 
ENST00000418900, ENST00000430190, 
ENST00000452906, ENST00000470543, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 4 X 2=24
# samples 33
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/24*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CCNE1 [Title/Abstract] AND HIGD1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCNE1(30315101)-HIGD1A(42842449), # 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
TgeneHIGD1A

GO:0043066

negative regulation of apoptotic process

21856340


check buttonFusion gene breakpoints across CCNE1 (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 HIGD1A (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
ChiTaRS5.0N/AAA866138CCNE1chr19

30315101

-HIGD1Achr3

42842449

+


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Fusion Gene ORF analysis for CCNE1-HIGD1A

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
3UTR-intronENST00000262643ENST00000321331CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000262643ENST00000418900CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000262643ENST00000430190CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000262643ENST00000452906CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000262643ENST00000470543CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000357943ENST00000321331CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000357943ENST00000418900CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000357943ENST00000430190CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000357943ENST00000452906CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000357943ENST00000470543CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000444983ENST00000321331CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000444983ENST00000418900CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000444983ENST00000430190CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000444983ENST00000452906CCNE1chr19

30315101

-HIGD1Achr3

42842449

+
3UTR-intronENST00000444983ENST00000470543CCNE1chr19

30315101

-HIGD1Achr3

42842449

+

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 CCNE1-HIGD1A


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 CCNE1-HIGD1A


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/:30315101/:42842449)
- 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
CCNE1

P24864

HIGD1A

Q9Y241

FUNCTION: Essential for the control of the cell cycle at the G1/S (start) transition. {ECO:0000269|PubMed:7739542}.FUNCTION: Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly of respiratory supercomplexes. {ECO:0000269|PubMed:22342701}.

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 CCNE1-HIGD1A


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 CCNE1-HIGD1A


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 CCNE1-HIGD1A


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 CCNE1-HIGD1A


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