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Fusion gene ID: 12655 |
FusionGeneSummary for FAM172A_MME |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM172A_MME | Fusion gene ID: 12655 | Hgene | Tgene | Gene symbol | FAM172A | MME | Gene ID | 83989 | 4321 |
| Gene name | family with sequence similarity 172 member A | matrix metallopeptidase 12 | |
| Synonyms | C5orf21 | HME|ME|MME|MMP-12 | |
| Cytomap | 5q15 | 11q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM172A | macrophage metalloelastasematrix metallopeptidase 12 (macrophage elastase)matrix metalloproteinase 12 (macrophage elastase) | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q8WUF8 | P08473 | |
| Ensembl transtripts involved in fusion gene | ENST00000395965, ENST00000505869, ENST00000509739, ENST00000509163, ENST00000504768, | ENST00000492661, ENST00000460393, ENST00000382989, ENST00000462745, ENST00000493237, ENST00000360490, ENST00000477669, | |
| Fusion gene scores | * DoF score | 8 X 6 X 5=240 | 3 X 3 X 2=18 |
| # samples | 8 | 3 | |
| ** MAII score | log2(8/240*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: FAM172A [Title/Abstract] AND MME [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | MME | GO:0006508 | proteolysis | 24784232 |
| Tgene | MME | GO:0035313 | wound healing, spreading of epidermal cells | 15802269 |
| Tgene | MME | GO:0060054 | positive regulation of epithelial cell proliferation involved in wound healing | 15802269 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BU631638 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000395965 | ENST00000492661 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-3CDS | ENST00000395965 | ENST00000460393 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000395965 | ENST00000382989 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000395965 | ENST00000462745 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000395965 | ENST00000493237 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000395965 | ENST00000360490 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000395965 | ENST00000477669 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-3CDS | ENST00000505869 | ENST00000492661 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-3CDS | ENST00000505869 | ENST00000460393 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000505869 | ENST00000382989 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000505869 | ENST00000462745 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000505869 | ENST00000493237 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000505869 | ENST00000360490 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000505869 | ENST00000477669 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-3CDS | ENST00000509739 | ENST00000492661 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-3CDS | ENST00000509739 | ENST00000460393 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509739 | ENST00000382989 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509739 | ENST00000462745 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509739 | ENST00000493237 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509739 | ENST00000360490 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509739 | ENST00000477669 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-3CDS | ENST00000509163 | ENST00000492661 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-3CDS | ENST00000509163 | ENST00000460393 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509163 | ENST00000382989 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509163 | ENST00000462745 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509163 | ENST00000493237 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509163 | ENST00000360490 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000509163 | ENST00000477669 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-3CDS | ENST00000504768 | ENST00000492661 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-3CDS | ENST00000504768 | ENST00000460393 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000504768 | ENST00000382989 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000504768 | ENST00000462745 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000504768 | ENST00000493237 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000504768 | ENST00000360490 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
| intron-intron | ENST00000504768 | ENST00000477669 | FAM172A | chr5 | 93018301 | + | MME | chr3 | 154890359 | - |
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FusionProtFeatures for FAM172A_MME |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM172A | MME |
| Thermolysin-like specificity, but is almost confined onacting on polypeptides of up to 30 amino acids (PubMed:15283675,PubMed:8168535). Biologically important in the destruction ofopioid peptides such as Met- and Leu-enkephalins by cleavage of aGly-Phe bond (PubMed:17101991). Able to cleave angiotensin-1,angiotensin-2 and angiotensin 1-9 (PubMed:15283675). Involved inthe degradation of atrial natriuretic factor (ANF)(PubMed:2531377, PubMed:2972276). Displays UV-inducible elastaseactivity toward skin preelastic and elastic fibers(PubMed:20876573). {ECO:0000269|PubMed:15283675,ECO:0000269|PubMed:17101991, ECO:0000269|PubMed:20876573,ECO:0000269|PubMed:2531377, ECO:0000269|PubMed:27588448,ECO:0000269|PubMed:2972276}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for FAM172A_MME |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for FAM172A_MME |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FAM172A_MME |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | MME | P08473 | DB09292 | Sacubitril | Neprilysin | small molecule | approved |
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RelatedDiseases for FAM172A_MME |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MME | C0011882 | Diabetic Neuropathies | 1 | CTD_human |
| Tgene | MME | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | MME | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | MME | C0273115 | Lung Injury | 1 | CTD_human |
| Tgene | MME | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | MME | C1565489 | Renal Insufficiency | 1 | CTD_human |
| Tgene | MME | C2316212 | Cryopyrin-Associated Periodic Syndromes | 1 | CTD_human |
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