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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:MMP14-PPM1A (FusionGDB2 ID:54406)

Fusion Gene Summary for MMP14-PPM1A

check button Fusion gene summary
Fusion gene informationFusion gene name: MMP14-PPM1A
Fusion gene ID: 54406
HgeneTgene
Gene symbol

MMP14

PPM1A

Gene ID

4323

5494

Gene namematrix metallopeptidase 14protein phosphatase, Mg2+/Mn2+ dependent 1A
SynonymsMMP-14|MMP-X1|MT-MMP|MT-MMP 1|MT1-MMP|MT1MMP|MTMMP1|WNCHRSPP2C-ALPHA|PP2CA|PP2Calpha
Cytomap

14q11.2

14q23.1

Type of geneprotein-codingprotein-coding
Descriptionmatrix metalloproteinase-14matrix metallopeptidase 14 (membrane-inserted)membrane type 1 metalloproteasemembrane-type-1 matrix metalloproteinaseprotein phosphatase 1Aprotein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000548162, ENST00000311852, 
ENST00000325642, ENST00000325658, 
ENST00000395076, ENST00000529574, 
Fusion gene scores* DoF score7 X 6 X 5=2109 X 7 X 3=189
# samples 79
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/189*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MMP14 [Title/Abstract] AND PPM1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMMP14(23314575)-PPM1A(60749402), # 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
HgeneMMP14

GO:0006508

proteolysis

15863497|24970228

HgeneMMP14

GO:0030307

positive regulation of cell growth

22065321

HgeneMMP14

GO:0030335

positive regulation of cell migration

22065321

HgeneMMP14

GO:0031638

zymogen activation

20666777

TgenePPM1A

GO:0010991

negative regulation of SMAD protein complex assembly

16751101

TgenePPM1A

GO:0016311

dephosphorylation

10644691

TgenePPM1A

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

16751101

TgenePPM1A

GO:0035970

peptidyl-threonine dephosphorylation

11559703|20801214

TgenePPM1A

GO:0045893

positive regulation of transcription, DNA-templated

10644691

TgenePPM1A

GO:0090263

positive regulation of canonical Wnt signaling pathway

10644691


check buttonFusion gene breakpoints across MMP14 (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 PPM1A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BLCATCGA-XF-AAMW-01AMMP14chr14

23314575

+PPM1Achr14

60749402

+


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Fusion Gene ORF analysis for MMP14-PPM1A

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-3CDSENST00000548162ENST00000325642MMP14chr14

23314575

+PPM1Achr14

60749402

+
3UTR-5UTRENST00000548162ENST00000325658MMP14chr14

23314575

+PPM1Achr14

60749402

+
3UTR-5UTRENST00000548162ENST00000395076MMP14chr14

23314575

+PPM1Achr14

60749402

+
3UTR-5UTRENST00000548162ENST00000529574MMP14chr14

23314575

+PPM1Achr14

60749402

+
5CDS-5UTRENST00000311852ENST00000325658MMP14chr14

23314575

+PPM1Achr14

60749402

+
5CDS-5UTRENST00000311852ENST00000395076MMP14chr14

23314575

+PPM1Achr14

60749402

+
5CDS-5UTRENST00000311852ENST00000529574MMP14chr14

23314575

+PPM1Achr14

60749402

+
In-frameENST00000311852ENST00000325642MMP14chr14

23314575

+PPM1Achr14

60749402

+

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)
ENST00000311852MMP14chr1423314575+ENST00000325642PPM1Achr1460749402+309616782402846868

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
ENST00000311852ENST00000325642MMP14chr1423314575+PPM1Achr1460749402+0.000692860.99930716

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Fusion Genomic Features for MMP14-PPM1A


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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for MMP14-PPM1A


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/chr14:23314575/chr14:60749402)
- 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
..
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: 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
HgeneMMP14chr14:23314575chr14:60749402ENST00000311852+91091_98472583.0MotifCysteine switch
HgeneMMP14chr14:23314575chr14:60749402ENST00000311852+910316_364472583.0RepeatNote=Hemopexin 1
HgeneMMP14chr14:23314575chr14:60749402ENST00000311852+910365_410472583.0RepeatNote=Hemopexin 2
HgeneMMP14chr14:23314575chr14:60749402ENST00000311852+910412_460472583.0RepeatNote=Hemopexin 3
TgenePPM1Achr14:23314575chr14:60749402ENST000003256581423_2910325.0DomainPPM-type phosphatase
TgenePPM1Achr14:23314575chr14:60749402ENST000003950760623_2910383.0DomainPPM-type phosphatase
TgenePPM1Achr14:23314575chr14:60749402ENST000005295741723_2910383.0DomainPPM-type phosphatase

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMMP14chr14:23314575chr14:60749402ENST00000311852+910461_508472583.0RepeatNote=Hemopexin 4
HgeneMMP14chr14:23314575chr14:60749402ENST00000311852+910112_541472583.0Topological domainExtracellular
HgeneMMP14chr14:23314575chr14:60749402ENST00000311852+910563_582472583.0Topological domainCytoplasmic
HgeneMMP14chr14:23314575chr14:60749402ENST00000311852+910542_562472583.0TransmembraneHelical
TgenePPM1Achr14:23314575chr14:60749402ENST000003256420623_29166456.0DomainPPM-type phosphatase


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Fusion Gene Sequence for MMP14-PPM1A


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.
>54406_54406_1_MMP14-PPM1A_MMP14_chr14_23314575_ENST00000311852_PPM1A_chr14_60749402_ENST00000325642_length(transcript)=3096nt_BP=1678nt
ACCAGAGGAGAGAGCGAGAGAGGGAACCAGACCCCAGTTCGCCGACTAAGCAGAAGAAAGATCAAAAACCGGAAAAGAGGAGAAGAGCAA
ACAGGCACTTTGAGGAACAATCCCCTTTAACTCCAAGCCGACAGCGGTCTAGGAATTCAAGTTCAGTGCCTACCGAAGACAAAGGCGCCC
CGAGGGAGTGGCGGTGCGACCCCAGGGCGTGGGCCCGGCCGCGGAGCCCACACTGCCCGGCTGACCCGGTGGTCTCGGACCATGTCTCCC
GCCCCAAGACCCCCCCGTTGTCTCCTGCTCCCCCTGCTCACGCTCGGCACCGCGCTCGCCTCCCTCGGCTCGGCCCAAAGCAGCAGCTTC
AGCCCCGAAGCCTGGCTACAGCAATATGGCTACCTGCCTCCCGGGGACCTACGTACCCACACACAGCGCTCACCCCAGTCACTCTCAGCG
GCCATCGCTGCCATGCAGAAGTTTTACGGCTTGCAAGTAACAGGCAAAGCTGATGCAGACACCATGAAGGCCATGAGGCGCCCCCGATGT
GGTGTTCCAGACAAGTTTGGGGCTGAGATCAAGGCCAATGTTCGAAGGAAGCGCTACGCCATCCAGGGTCTCAAATGGCAACATAATGAA
ATCACTTTCTGCATCCAGAATTACACCCCCAAGGTGGGCGAGTATGCCACATACGAGGCCATTCGCAAGGCGTTCCGCGTGTGGGAGAGT
GCCACACCACTGCGCTTCCGCGAGGTGCCCTATGCCTACATCCGTGAGGGCCATGAGAAGCAGGCCGACATCATGATCTTCTTTGCCGAG
GGCTTCCATGGCGACAGCACGCCCTTCGATGGTGAGGGCGGCTTCCTGGCCCATGCCTACTTCCCAGGCCCCAACATTGGAGGAGACACC
CACTTTGACTCTGCCGAGCCTTGGACTGTCAGGAATGAGGATCTGAATGGAAATGACATCTTCCTGGTGGCTGTGCACGAGCTGGGCCAT
GCCCTGGGGCTCGAGCATTCCAGTGACCCCTCGGCCATCATGGCACCCTTTTACCAGTGGATGGACACGGAGAATTTTGTGCTGCCCGAT
GATGACCGCCGGGGCATCCAGCAACTTTATGGGGGTGAGTCAGGGTTCCCCACCAAGATGCCCCCTCAACCCAGGACTACCTCCCGGCCT
TCTGTTCCTGATAAACCCAAAAACCCCACCTATGGGCCCAACATCTGTGACGGGAACTTTGACACCGTGGCCATGCTCCGAGGGGAGATG
TTTGTCTTCAAGGAGCGCTGGTTCTGGCGGGTGAGGAATAACCAAGTGATGGATGGATACCCAATGCCCATTGGCCAGTTCTGGCGGGGC
CTGCCTGCGTCCATCAACACTGCCTACGAGAGGAAGGATGGCAAATTCGTCTTCTTCAAAGGAGACAAGCATTGGGTGTTTGATGAGGCG
TCCCTGGAACCTGGCTACCCCAAGCACATTAAGGAGCTGGGCCGAGGGCTGCCTACCGACAAGATTGATGCTGCTCTCTTCTGGATGCCC
AATGGAAAGACCTACTTCTTCCGTGGAAACAAGTACTACCGTTTCAACGAAGAGCTCAGGGCAGTGGATAGCGAGTACCCCAAGAACATC
AAAGTCTGGGAAGGGATCCCTGAGTCTCCCAGAGGGTCATTCATGGGCAGCGATGAAGACCTAGAGGATCAAGACATAATGGGAGCATTT
TTAGACAAGCCAAAGATGGAAAAGCATAATGCCCAGGGGCAGGGTAATGGGTTGCGATATGGGCTAAGCAGCATGCAAGGCTGGCGTGTT
GAAATGGAGGATGCACATACGGCTGTGATCGGTTTGCCAAGTGGACTTGAATCGTGGTCATTCTTTGCTGTGTATGATGGGCATGCTGGT
TCTCAGGTTGCCAAATACTGCTGTGAGCATTTGTTAGATCACATCACCAATAACCAGGATTTTAAAGGGTCTGCAGGAGCACCTTCTGTG
GAAAATGTAAAGAATGGAATCAGAACAGGTTTTCTGGAGATTGATGAACACATGAGAGTTATGTCAGAGAAGAAACATGGTGCAGATAGA
AGTGGGTCAACAGCTGTAGGTGTCTTAATTTCTCCCCAACATACTTATTTCATTAACTGTGGAGACTCAAGAGGTTTACTTTGTAGGAAC
AGGAAAGTTCATTTCTTCACACAAGATCACAAACCAAGTAATCCGCTGGAGAAAGAACGAATTCAGAATGCAGGTGGCTCTGTAATGATT
CAGCGTGTGAATGGCTCTCTGGCTGTATCGAGGGCCCTTGGGGATTTTGATTACAAATGTGTCCATGGAAAAGGTCCTACTGAGCAGCTT
GTCTCACCAGAGCCTGAAGTCCATGATATTGAAAGATCTGAAGAAGATGATCAGTTCATTATCCTTGCATGTGATGGTATCTGGGATGTT
ATGGGAAATGAAGAGCTCTGTGATTTTGTAAGATCCAGACTTGAAGTCACTGATGACCTTGAGAAAGTTTGCAATGAAGTAGTCGACACC
TGTTTGTATAAGGGAAGTCGAGACAACATGAGTGTGATTTTGATCTGTTTTCCAAATGCACCCAAAGTATCGCCAGAAGCAGTGAAGAAG
GAGGCAGAGTTGGACAAGTACCTGGAATGCAGAGTAGAAGAAATCATAAAGAAGCAGGGGGAAGGCGTCCCCGACTTAGTCCATGTGATG
CGCACATTAGCGAGTGAGAACATCCCCAGCCTCCCACCAGGGGGTGAATTGGCAAGCAAGAGGAATGTTATTGAAGCCGTTTACAATAGA
CTGAATCCTTACAAAAATGACGACACTGACTCTACATCAACAGATGATATGTGGTAAAACTGCTCATCTAGCCATGGAGTTTACCTTCAC
CTCCAAAGGAGAGTACAGCTCAACTTTGTTGAAACTTTTAACATCCATCCTCAACTTTAAGGAAGGGGATATGACATGGGTGAGAATGAT
TACATCAGAGAACTTCAGCAGTACAACAGCTAGCCCAGAACTGATTTTTTTTTTTTTTTTTGTAAATTTGAGACTTATGTAAGCGTGATT

>54406_54406_1_MMP14-PPM1A_MMP14_chr14_23314575_ENST00000311852_PPM1A_chr14_60749402_ENST00000325642_length(amino acids)=868AA_BP=479
MTRWSRTMSPAPRPPRCLLLPLLTLGTALASLGSAQSSSFSPEAWLQQYGYLPPGDLRTHTQRSPQSLSAAIAAMQKFYGLQVTGKADAD
TMKAMRRPRCGVPDKFGAEIKANVRRKRYAIQGLKWQHNEITFCIQNYTPKVGEYATYEAIRKAFRVWESATPLRFREVPYAYIREGHEK
QADIMIFFAEGFHGDSTPFDGEGGFLAHAYFPGPNIGGDTHFDSAEPWTVRNEDLNGNDIFLVAVHELGHALGLEHSSDPSAIMAPFYQW
MDTENFVLPDDDRRGIQQLYGGESGFPTKMPPQPRTTSRPSVPDKPKNPTYGPNICDGNFDTVAMLRGEMFVFKERWFWRVRNNQVMDGY
PMPIGQFWRGLPASINTAYERKDGKFVFFKGDKHWVFDEASLEPGYPKHIKELGRGLPTDKIDAALFWMPNGKTYFFRGNKYYRFNEELR
AVDSEYPKNIKVWEGIPESPRGSFMGSDEDLEDQDIMGAFLDKPKMEKHNAQGQGNGLRYGLSSMQGWRVEMEDAHTAVIGLPSGLESWS
FFAVYDGHAGSQVAKYCCEHLLDHITNNQDFKGSAGAPSVENVKNGIRTGFLEIDEHMRVMSEKKHGADRSGSTAVGVLISPQHTYFINC
GDSRGLLCRNRKVHFFTQDHKPSNPLEKERIQNAGGSVMIQRVNGSLAVSRALGDFDYKCVHGKGPTEQLVSPEPEVHDIERSEEDDQFI
ILACDGIWDVMGNEELCDFVRSRLEVTDDLEKVCNEVVDTCLYKGSRDNMSVILICFPNAPKVSPEAVKKEAELDKYLECRVEEIIKKQG

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Fusion Gene PPI Analysis for MMP14-PPM1A


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 MMP14-PPM1A


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 MMP14-PPM1A


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