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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:MMP28-ATP6V0A1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MMP28-ATP6V0A1
FusionPDB ID: 54423
FusionGDB2.0 ID: 54423
HgeneTgene
Gene symbol

MMP28

ATP6V0A1

Gene ID

79148

535

Gene namematrix metallopeptidase 28ATPase H+ transporting V0 subunit a1
SynonymsEPILYSIN|MM28|MMP-25|MMP-28|MMP25ATP6N1|ATP6N1A|Stv1|VPP1|Vph1|a1
Cytomap

17q12

17q21.2

Type of geneprotein-codingprotein-coding
Descriptionmatrix metalloproteinase-28matrix metalloprotease MMP25V-type proton ATPase 116 kDa subunit a isoform 1V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, lysosomal V0 subunit a1ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)H(+)-transporting two-sector ATPase,
Modification date2020031320200324
UniProtAcc

Q9H239

Q93050

Ensembl transtripts involved in fusion geneENST idsENST00000250144, ENST00000587797, 
ENST00000546249, ENST00000264649, 
ENST00000343619, ENST00000393829, 
ENST00000537728, ENST00000544137, 
ENST00000585525, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 2 X 3=188 X 10 X 4=320
# samples 39
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MMP28 [Title/Abstract] AND ATP6V0A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MMP28(34122271)-ATP6V0A1(40665879), # samples:1
Anticipated loss of major functional domain due to fusion event.MMP28-ATP6V0A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MMP28-ATP6V0A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MMP28-ATP6V0A1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
MMP28-ATP6V0A1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
MMP28-ATP6V0A1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across MMP28 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ATP6V0A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-CG-5724-01AMMP28chr17

34122271

-ATP6V0A1chr17

40665879

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000250144MMP28chr1734122271-ENST00000393829ATP6V0A1chr1740665879+11904415112170
ENST00000250144MMP28chr1734122271-ENST00000537728ATP6V0A1chr1740665879+1099441330824164
ENST00000250144MMP28chr1734122271-ENST00000264649ATP6V0A1chr1740665879+2287441330824164
ENST00000250144MMP28chr1734122271-ENST00000585525ATP6V0A1chr1740665879+9964415112170
ENST00000250144MMP28chr1734122271-ENST00000343619ATP6V0A1chr1740665879+23164415112170
ENST00000250144MMP28chr1734122271-ENST00000544137ATP6V0A1chr1740665879+22834415112170

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
ENST00000250144ENST00000393829MMP28chr1734122271-ATP6V0A1chr1740665879+0.023464110.97653586
ENST00000250144ENST00000537728MMP28chr1734122271-ATP6V0A1chr1740665879+0.0324750770.967525
ENST00000250144ENST00000264649MMP28chr1734122271-ATP6V0A1chr1740665879+0.0264882580.9735118
ENST00000250144ENST00000585525MMP28chr1734122271-ATP6V0A1chr1740665879+0.0345375840.9654624
ENST00000250144ENST00000343619MMP28chr1734122271-ATP6V0A1chr1740665879+0.0277900040.97221
ENST00000250144ENST00000544137MMP28chr1734122271-ATP6V0A1chr1740665879+0.0263121150.9736878

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>54423_54423_1_MMP28-ATP6V0A1_MMP28_chr17_34122271_ENST00000250144_ATP6V0A1_chr17_40665879_ENST00000264649_length(amino acids)=164AA_BP=37
MVARVGLLLRALQLLLWGHLDAQPAERGGQELRKEAEFDFGDTMVHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVIHIG

--------------------------------------------------------------

>54423_54423_2_MMP28-ATP6V0A1_MMP28_chr17_34122271_ENST00000250144_ATP6V0A1_chr17_40665879_ENST00000343619_length(amino acids)=170AA_BP=1
MEMQPRQYSMVWMAWWTMVSPKSNSASLRSSWPPRSAGWASRWPHSSSCRARSRRPTRATISPPPVQPGSGSYCAQGTSRQSAAPGTPGM

--------------------------------------------------------------

>54423_54423_3_MMP28-ATP6V0A1_MMP28_chr17_34122271_ENST00000250144_ATP6V0A1_chr17_40665879_ENST00000393829_length(amino acids)=170AA_BP=1
MEMQPRQYSMVWMAWWTMVSPKSNSASLRSSWPPRSAGWASRWPHSSSCRARSRRPTRATISPPPVQPGSGSYCAQGTSRQSAAPGTPGM

--------------------------------------------------------------

>54423_54423_4_MMP28-ATP6V0A1_MMP28_chr17_34122271_ENST00000250144_ATP6V0A1_chr17_40665879_ENST00000537728_length(amino acids)=164AA_BP=37
MVARVGLLLRALQLLLWGHLDAQPAERGGQELRKEAEFDFGDTMVHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVIHIG

--------------------------------------------------------------

>54423_54423_5_MMP28-ATP6V0A1_MMP28_chr17_34122271_ENST00000250144_ATP6V0A1_chr17_40665879_ENST00000544137_length(amino acids)=170AA_BP=1
MEMQPRQYSMVWMAWWTMVSPKSNSASLRSSWPPRSAGWASRWPHSSSCRARSRRPTRATISPPPVQPGSGSYCAQGTSRQSAAPGTPGM

--------------------------------------------------------------

>54423_54423_6_MMP28-ATP6V0A1_MMP28_chr17_34122271_ENST00000250144_ATP6V0A1_chr17_40665879_ENST00000585525_length(amino acids)=170AA_BP=1
MEMQPRQYSMVWMAWWTMVSPKSNSASLRSSWPPRSAGWASRWPHSSSCRARSRRPTRATISPPPVQPGSGSYCAQGTSRQSAAPGTPGM

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr17:34122271/chr17:40665879)
- 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
MMP28

Q9H239

ATP6V0A1

Q93050

FUNCTION: Can degrade casein. Could play a role in tissues homeostasis and repair.FUNCTION: Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721750_770711.0839.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721810_837711.0839.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822750_770710.0838.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822810_837710.0838.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721750_770704.0832.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721810_837704.0832.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721725_749711.0839.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721771_809711.0839.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822725_749710.0838.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822771_809710.0838.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721725_749704.0832.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721771_809704.0832.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMMP28chr17:34122271chr17:40665879ENST00000250144-1389_9637.0131.0MotifCysteine switch
HgeneMMP28chr17:34122271chr17:40665879ENST00000250144-13325_36937.0131.0RepeatNote=Hemopexin 1
HgeneMMP28chr17:34122271chr17:40665879ENST00000250144-13370_40937.0131.0RepeatNote=Hemopexin 2
HgeneMMP28chr17:34122271chr17:40665879ENST00000250144-13415_46337.0131.0RepeatNote=Hemopexin 3
HgeneMMP28chr17:34122271chr17:40665879ENST00000250144-13464_51037.0131.0RepeatNote=Hemopexin 4
TgeneATP6V0A1chr17:34122271chr17:40665879ENST0000026464917211_388711.0839.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721408_409711.0839.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721427_441711.0839.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721472_534711.0839.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721555_572711.0839.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721594_638711.0839.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721659_724711.0839.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST0000034361918221_388710.0838.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822408_409710.0838.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822427_441710.0838.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822472_534710.0838.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822555_572710.0838.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822594_638710.0838.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822659_724710.0838.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST0000039382917211_388704.0832.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721408_409704.0832.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721427_441704.0832.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721472_534704.0832.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721555_572704.0832.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721594_638704.0832.0Topological domainVacuolar
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721659_724704.0832.0Topological domainCytoplasmic
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721389_407711.0839.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721410_426711.0839.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721442_471711.0839.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721535_554711.0839.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721573_593711.0839.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000002646491721639_658711.0839.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822389_407710.0838.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822410_426710.0838.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822442_471710.0838.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822535_554710.0838.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822573_593710.0838.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003436191822639_658710.0838.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721389_407704.0832.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721410_426704.0832.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721442_471704.0832.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721535_554704.0832.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721573_593704.0832.0TransmembraneHelical
TgeneATP6V0A1chr17:34122271chr17:40665879ENST000003938291721639_658704.0832.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MMP28
ATP6V0A1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to MMP28-ATP6V0A1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to MMP28-ATP6V0A1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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