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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:MFF-PAXIP1 (FusionGDB2 ID:53174)

Fusion Gene Summary for MFF-PAXIP1

check button Fusion gene summary
Fusion gene informationFusion gene name: MFF-PAXIP1
Fusion gene ID: 53174
HgeneTgene
Gene symbol

MFF

PAXIP1

Gene ID

56947

22976

Gene namemitochondrial fission factorPAX interacting protein 1
SynonymsC2orf33|EMPF2|GL004CAGF28|CAGF29|PACIP1|PAXIP1L|PTIP|TNRC2
Cytomap

2q36.3

7q36.2

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial fission factorPAX-interacting protein 1PAX interacting (with transcription-activation domain) protein 1PAX transcription activation domain interacting protein 1 likeprotein encoded by CAG trinucleotide repeats
Modification date2020032720200320
UniProtAcc

Q9GZY8

PAGR1

Ensembl transtripts involved in fusion geneENST00000476924, ENST00000304593, 
ENST00000337110, ENST00000349901, 
ENST00000353339, ENST00000354503, 
ENST00000409565, ENST00000409616, 
ENST00000524634, ENST00000392059, 
ENST00000397192, ENST00000404141, 
ENST00000473219, 
Fusion gene scores* DoF score5 X 5 X 5=1259 X 9 X 5=405
# samples 59
** MAII scorelog2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/405*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MFF [Title/Abstract] AND PAXIP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMFF(228190143)-PAXIP1(154749004), # 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
HgeneMFF

GO:0090141

positive regulation of mitochondrial fission

23283981|23530241

HgeneMFF

GO:0090314

positive regulation of protein targeting to membrane

23283981

TgenePAXIP1

GO:0010212

response to ionizing radiation

15456759

TgenePAXIP1

GO:0051568

histone H3-K4 methylation

17178841


check buttonFusion gene breakpoints across MFF (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 PAXIP1 (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-8078-01AMFFchr2

228190143

+PAXIP1chr7

154749004

-


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Fusion Gene ORF analysis for MFF-PAXIP1

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-3CDSENST00000476924ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
3UTR-3CDSENST00000476924ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
3UTR-5UTRENST00000476924ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000304593ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000304593ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000337110ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000337110ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000349901ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000349901ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000353339ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000353339ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000354503ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000354503ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000409565ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000409565ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000409616ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000409616ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000524634ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-3CDSENST00000524634ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-5UTRENST00000304593ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-5UTRENST00000337110ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-5UTRENST00000349901ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-5UTRENST00000353339ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-5UTRENST00000354503ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-5UTRENST00000409565ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-5UTRENST00000409616ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-
5UTR-5UTRENST00000524634ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-
intron-3CDSENST00000392059ENST00000397192MFFchr2

228190143

+PAXIP1chr7

154749004

-
intron-3CDSENST00000392059ENST00000404141MFFchr2

228190143

+PAXIP1chr7

154749004

-
intron-5UTRENST00000392059ENST00000473219MFFchr2

228190143

+PAXIP1chr7

154749004

-

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 MFF-PAXIP1


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 MFF-PAXIP1


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/:228190143/:154749004)
- 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
MFF

Q9GZY8

PAXIP1

PAGR1

FUNCTION: Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles. {ECO:0000269|PubMed:18353969, ECO:0000269|PubMed:23530241}.254

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 MFF-PAXIP1


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 MFF-PAXIP1


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 MFF-PAXIP1


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 MFF-PAXIP1


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