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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:MPV17-ABCA10 (FusionGDB2 ID:HG4358TG10349)

Fusion Gene Summary for MPV17-ABCA10

check button Fusion gene summary
Fusion gene informationFusion gene name: MPV17-ABCA10
Fusion gene ID: hg4358tg10349
HgeneTgene
Gene symbol

MPV17

ABCA10

Gene ID

4358

10349

Gene namemitochondrial inner membrane protein MPV17ATP binding cassette subfamily A member 10
SynonymsCMT2EE|MTDPS6|SYM1EST698739
Cytomap('MPV17')('ABCA10')

2p23.3

17q24.3

Type of geneprotein-codingprotein-coding
Descriptionprotein Mpv17MPV17, mitochondrial inner membrane proteinMpV17 mitochondrial inner membrane proteinMpv17, human homolog of glomerulosclerosis and nephrotic syndromeATP-binding cassette sub-family A member 10ATP-binding cassette A10ATP-binding cassette, sub-family A (ABC1), member 10
Modification date2020031320200313
UniProtAcc

P39210

Q8WWZ4

Ensembl transtripts involved in fusion geneENST00000233545, ENST00000357186, 
ENST00000380044, ENST00000402310, 
ENST00000399052, ENST00000402722, 
ENST00000403262, ENST00000405076, 
ENST00000405983, 
Fusion gene scores* DoF score3 X 2 X 2=125 X 5 X 4=100
# samples 35
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MPV17 [Title/Abstract] AND ABCA10 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMPV17(27532360)-ABCA10(67178767), # 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 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/ABG577038MPV17chr2

27532360

-ABCA10chr17

67178767

+


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Fusion Gene ORF analysis for MPV17-ABCA10

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-intronENST00000233545ENST00000269081MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000233545ENST00000416101MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000233545ENST00000423818MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000233545ENST00000432313MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000233545ENST00000519732MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000357186ENST00000269081MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000357186ENST00000416101MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000357186ENST00000423818MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000357186ENST00000432313MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000357186ENST00000519732MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000380044ENST00000269081MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000380044ENST00000416101MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000380044ENST00000423818MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000380044ENST00000432313MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000380044ENST00000519732MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000402310ENST00000269081MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000402310ENST00000416101MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000402310ENST00000423818MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000402310ENST00000432313MPV17chr2

27532360

-ABCA10chr17

67178767

+
5CDS-intronENST00000402310ENST00000519732MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000399052ENST00000269081MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000399052ENST00000416101MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000399052ENST00000423818MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000399052ENST00000432313MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000399052ENST00000519732MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000402722ENST00000269081MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000402722ENST00000416101MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000402722ENST00000423818MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000402722ENST00000432313MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000402722ENST00000519732MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000403262ENST00000269081MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000403262ENST00000416101MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000403262ENST00000423818MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000403262ENST00000432313MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000403262ENST00000519732MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405076ENST00000269081MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405076ENST00000416101MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405076ENST00000423818MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405076ENST00000432313MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405076ENST00000519732MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405983ENST00000269081MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405983ENST00000416101MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405983ENST00000423818MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405983ENST00000432313MPV17chr2

27532360

-ABCA10chr17

67178767

+
intron-intronENST00000405983ENST00000519732MPV17chr2

27532360

-ABCA10chr17

67178767

+

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 MPV17-ABCA10


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 MPV17-ABCA10


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/:27532360/:67178767)
- 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
MPV17

P39210

ABCA10

Q8WWZ4

FUNCTION: Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity). {ECO:0000250|UniProtKB:P19258, ECO:0000269|PubMed:25861990, ECO:0000269|PubMed:26760297}.FUNCTION: Probable transporter which may play a role in macrophage lipid transport and homeostasis. {ECO:0000305|PubMed:12821155}.

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 MPV17-ABCA10


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 MPV17-ABCA10


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 MPV17-ABCA10


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 MPV17-ABCA10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMPV17C1850406NAVAJO NEUROHEPATOPATHY18CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneMPV17C0008370Cholestasis1GENOMICS_ENGLAND
HgeneMPV17C0009197Cochlear Diseases1CTD_human
HgeneMPV17C0017668Focal glomerulosclerosis1CTD_human
HgeneMPV17C0022283Incontinentia Pigmenti Achromians1CTD_human
HgeneMPV17C0033687Proteinuria1CTD_human
HgeneMPV17C0036305Schamberg Disease1CTD_human
HgeneMPV17C0085605Liver Failure1GENOMICS_ENGLAND
HgeneMPV17C0086432Hyalinosis, Segmental Glomerular1CTD_human
HgeneMPV17C0344307Absence of pain sensation1GENOMICS_ENGLAND
HgeneMPV17C0549567Pigmentation Disorders1CTD_human
HgeneMPV17C0751651Mitochondrial Diseases1CTD_human
HgeneMPV17C0949855Electron Transport Chain Deficiencies, Mitochondrial1CTD_human
HgeneMPV17C0949856Oxidative Phosphorylation Deficiencies1CTD_human
HgeneMPV17C0949857Mitochondrial Respiratory Chain Deficiencies1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human