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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:FAM172A-MME (FusionGDB2 ID:28707)

Fusion Gene Summary for FAM172A-MME

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM172A-MME
Fusion gene ID: 28707
HgeneTgene
Gene symbol

FAM172A

MME

Gene ID

83989

4321

Gene namefamily with sequence similarity 172 member Amatrix metallopeptidase 12
SynonymsC5orf21|ToupeeHME|ME|MME|MMP-12
Cytomap

5q15

11q22.2

Type of geneprotein-codingprotein-coding
Descriptioncotranscriptional regulator FAM172Aprotein FAM172Amacrophage metalloelastasematrix metallopeptidase 12 (macrophage elastase)matrix metalloproteinase 12 (macrophage elastase)
Modification date2020031320200313
UniProtAcc

Q8WUF8

Q495T6

Ensembl transtripts involved in fusion geneENST00000395965, ENST00000504768, 
ENST00000505869, ENST00000509163, 
ENST00000509739, 		ENST00000460393, 
ENST00000492661, ENST00000360490, 
ENST00000382989, ENST00000462745, 
ENST00000477669, ENST00000493237, 
Fusion gene scores* DoF score18 X 17 X 8=24488 X 8 X 2=128
# samples 238
** MAII scorelog2(23/2448*10)=-3.41189779174828
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointFAM172A(93018301)-MME(154890359), # 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
TgeneMME

GO:0006508

proteolysis

24784232

TgeneMME

GO:0035313

wound healing, spreading of epidermal cells

15802269

TgeneMME

GO:0060054

positive regulation of epithelial cell proliferation involved in wound healing

15802269

TgeneMME

GO:0060309

elastin catabolic process

29101312

TgeneMME

GO:1904905

negative regulation of endothelial cell-matrix adhesion via fibronectin

29101312


check buttonFusion gene breakpoints across FAM172A (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 MME (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/ABU631638FAM172Achr5

93018301

+MMEchr3

154890359

-


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Fusion Gene ORF analysis for FAM172A-MME

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
intron-3CDSENST00000395965ENST00000460393FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-3CDSENST00000395965ENST00000492661FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-3CDSENST00000504768ENST00000460393FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-3CDSENST00000504768ENST00000492661FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-3CDSENST00000505869ENST00000460393FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-3CDSENST00000505869ENST00000492661FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-3CDSENST00000509163ENST00000460393FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-3CDSENST00000509163ENST00000492661FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-3CDSENST00000509739ENST00000460393FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-3CDSENST00000509739ENST00000492661FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000395965ENST00000360490FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000395965ENST00000382989FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000395965ENST00000462745FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000395965ENST00000477669FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000395965ENST00000493237FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000504768ENST00000360490FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000504768ENST00000382989FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000504768ENST00000462745FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000504768ENST00000477669FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000504768ENST00000493237FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000505869ENST00000360490FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000505869ENST00000382989FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000505869ENST00000462745FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000505869ENST00000477669FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000505869ENST00000493237FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509163ENST00000360490FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509163ENST00000382989FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509163ENST00000462745FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509163ENST00000477669FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509163ENST00000493237FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509739ENST00000360490FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509739ENST00000382989FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509739ENST00000462745FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509739ENST00000477669FAM172Achr5

93018301

+MMEchr3

154890359

-
intron-intronENST00000509739ENST00000493237FAM172Achr5

93018301

+MMEchr3

154890359

-

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 FAM172A-MME


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 FAM172A-MME


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/:93018301/:154890359)
- 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
FAM172A

Q8WUF8

MME

Q495T6

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}.FUNCTION: Metalloprotease involved in sperm function, possibly by modulating the processes of fertilization and early embryonic development. Degrades a broad variety of small peptides with a preference for peptides shorter than 3 kDa containing neutral bulky aliphatic or aromatic amino acid residues. Shares the same substrate specificity with MME and cleaves peptides at the same amide bond (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

- 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 FAM172A-MME


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 FAM172A-MME


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 FAM172A-MME


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 FAM172A-MME


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