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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:FIS1-FAM172A (FusionGDB2 ID:30431)

Fusion Gene Summary for FIS1-FAM172A

check button Fusion gene summary
Fusion gene informationFusion gene name: FIS1-FAM172A
Fusion gene ID: 30431
HgeneTgene
Gene symbol

FIS1

FAM172A

Gene ID

51024

83989

Gene namefission, mitochondrial 1family with sequence similarity 172 member A
SynonymsCGI-135|TTC11C5orf21|Toupee
Cytomap

7q22.1

5q15

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial fission 1 proteinFIS1 homologH_NH0132A01.6TPR repeat protein 11fission 1 (mitochondrial outer membrane) homologhFis1mitochondrial fission moleculetetratricopeptide repeat domain 11tetratricopeptide repeat protein 11cotranscriptional regulator FAM172Aprotein FAM172A
Modification date2020032720200313
UniProtAcc

Q9Y3D6

Q8WUF8

Ensembl transtripts involved in fusion geneENST00000223136, ENST00000442303, 
ENST00000474120, ENST00000482199, 
ENST00000395965, ENST00000504768, 
ENST00000505869, ENST00000509163, 
ENST00000509739, 
Fusion gene scores* DoF score4 X 3 X 2=2411 X 14 X 6=924
# samples 423
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(23/924*10)=-2.00625899047168
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FIS1 [Title/Abstract] AND FAM172A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFIS1(100882893)-FAM172A(93380824), # 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
HgeneFIS1

GO:0000266

mitochondrial fission

16118244|18845145

HgeneFIS1

GO:0000422

autophagy of mitochondrion

18515060

HgeneFIS1

GO:0016559

peroxisome fission

16107562|17408615

HgeneFIS1

GO:0043653

mitochondrial fragmentation involved in apoptotic process

16118244|17545159

HgeneFIS1

GO:0090141

positive regulation of mitochondrial fission

23283981

HgeneFIS1

GO:0090314

positive regulation of protein targeting to membrane

23283981


check buttonFusion gene breakpoints across FIS1 (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 FAM172A (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/ABF338630FIS1chr7

100882893

-FAM172Achr5

93380824

+


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Fusion Gene ORF analysis for FIS1-FAM172A

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-intronENST00000223136ENST00000395965FIS1chr7

100882893

-FAM172Achr5

93380824

+
5CDS-intronENST00000223136ENST00000504768FIS1chr7

100882893

-FAM172Achr5

93380824

+
5CDS-intronENST00000223136ENST00000505869FIS1chr7

100882893

-FAM172Achr5

93380824

+
5CDS-intronENST00000223136ENST00000509163FIS1chr7

100882893

-FAM172Achr5

93380824

+
5CDS-intronENST00000223136ENST00000509739FIS1chr7

100882893

-FAM172Achr5

93380824

+
5CDS-intronENST00000442303ENST00000395965FIS1chr7

100882893

-FAM172Achr5

93380824

+
5CDS-intronENST00000442303ENST00000504768FIS1chr7

100882893

-FAM172Achr5

93380824

+
5CDS-intronENST00000442303ENST00000505869FIS1chr7

100882893

-FAM172Achr5

93380824

+
5CDS-intronENST00000442303ENST00000509163FIS1chr7

100882893

-FAM172Achr5

93380824

+
5CDS-intronENST00000442303ENST00000509739FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000474120ENST00000395965FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000474120ENST00000504768FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000474120ENST00000505869FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000474120ENST00000509163FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000474120ENST00000509739FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000482199ENST00000395965FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000482199ENST00000504768FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000482199ENST00000505869FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000482199ENST00000509163FIS1chr7

100882893

-FAM172Achr5

93380824

+
intron-intronENST00000482199ENST00000509739FIS1chr7

100882893

-FAM172Achr5

93380824

+

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 FIS1-FAM172A


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 FIS1-FAM172A


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/:100882893/:93380824)
- 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
FIS1

Q9Y3D6

FAM172A

Q8WUF8

FUNCTION: Involved in the fragmentation of the mitochondrial network and its perinuclear clustering. Plays a minor role in the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission. {ECO:0000269|PubMed:12783892, ECO:0000269|PubMed:12861026, ECO:0000269|PubMed:14996942, ECO:0000269|PubMed:16107562, ECO:0000269|PubMed:16118244, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241}.FUNCTION: Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity. {ECO:0000250|UniProtKB:Q3TNH5}.

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 FIS1-FAM172A


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 FIS1-FAM172A


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 FIS1-FAM172A


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 FIS1-FAM172A


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