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Fusion gene ID: 1966 |
FusionGeneSummary for ANPEP_MMP14 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANPEP_MMP14 | Fusion gene ID: 1966 | Hgene | Tgene | Gene symbol | ANPEP | MMP14 | Gene ID | 290 | 4323 |
| Gene name | alanyl aminopeptidase, membrane | matrix metallopeptidase 14 | |
| Synonyms | APN|CD13|GP150|LAP1|P150|PEPN | MMP-14|MMP-X1|MT-MMP|MT-MMP 1|MT1-MMP|MT1MMP|MTMMP1|WNCHRS | |
| Cytomap | 15q26.1 | 14q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aminopeptidase NAP-MAP-Nalanyl (membrane) aminopeptidaseaminopeptidase MhAPNmembrane alanyl aminopeptidasemicrosomal aminopeptidasemyeloid plasma membrane glycoprotein CD13 | matrix metalloproteinase-14matrix metallopeptidase 14 (membrane-inserted)membrane type 1 metalloproteasemembrane-type-1 matrix metalloproteinase | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P15144 | P50281 | |
| Ensembl transtripts involved in fusion gene | ENST00000300060, ENST00000558177, | ENST00000311852, ENST00000548162, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 8 X 7 X 6=336 |
| # samples | 2 | 8 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ANPEP [Title/Abstract] AND MMP14 [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 | MMP14 | GO:0006508 | proteolysis | 15863497|24970228 |
| Tgene | MMP14 | GO:0030307 | positive regulation of cell growth | 22065321 |
| Tgene | MMP14 | GO:0030335 | positive regulation of cell migration | 22065321 |
| 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 |
| TCGA | LD | SKCM | TCGA-GF-A3OT-06A | ANPEP | chr15 | 90333691 | - | MMP14 | chr14 | 23313580 | + |
| * 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 |
| Frame-shift | ENST00000300060 | ENST00000311852 | ANPEP | chr15 | 90333691 | - | MMP14 | chr14 | 23313580 | + |
| 5CDS-3UTR | ENST00000300060 | ENST00000548162 | ANPEP | chr15 | 90333691 | - | MMP14 | chr14 | 23313580 | + |
| intron-3CDS | ENST00000558177 | ENST00000311852 | ANPEP | chr15 | 90333691 | - | MMP14 | chr14 | 23313580 | + |
| intron-3UTR | ENST00000558177 | ENST00000548162 | ANPEP | chr15 | 90333691 | - | MMP14 | chr14 | 23313580 | + |
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FusionProtFeatures for ANPEP_MMP14 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANPEP | MMP14 |
| Broad specificity aminopeptidase which plays a role inthe final digestion of peptides generated from hydrolysis ofproteins by gastric and pancreatic proteases. Also involved in theprocessing of various peptides including peptide hormones, such asangiotensin III and IV, neuropeptides, and chemokines. May also beinvolved the cleavage of peptides bound to majorhistocompatibility complex class II molecules of antigenpresenting cells. May have a role in angiogenesis and promotecholesterol crystallization. {ECO:0000269|PubMed:10605003,ECO:0000269|PubMed:10676659, ECO:0000269|PubMed:11384645,ECO:0000269|PubMed:12473585, ECO:0000269|PubMed:7576235,ECO:0000269|PubMed:8102610, ECO:0000269|PubMed:9056417}. (Microbial infection) Acts as a receptor for humancoronavirus 229E/HCoV-229E. In case of human coronavirus 229E(HCoV-229E) infection, serves as receptor for HCoV-229E spikeglycoprotein. {ECO:0000269|PubMed:12551991,ECO:0000269|PubMed:1350662, ECO:0000269|PubMed:8887485,ECO:0000269|PubMed:9367365}. (Microbial infection) Mediates as well Humancytomegalovirus (HCMV) infection. {ECO:0000269|PubMed:8105105}. | Endopeptidase that degrades various components of theextracellular matrix such as collagen. Activates progelatinase A.Essential for pericellular collagenolysis and modeling of skeletaland extraskeletal connective tissues during development (Bysimilarity). May be involved in actin cytoskeleton reorganizationby cleaving PTK7 (PubMed:20837484). Acts as a positive regulatorof cell growth and migration via activation of MMP15. Involved inthe formation of the fibrovascular tissues in association withpro-MMP2 (PubMed:12714657). Cleaves ADGRB1 to releasevasculostatin-40 which inhibits angiogenesis (PubMed:22330140).{ECO:0000250|UniProtKB:P53690, ECO:0000269|PubMed:12714657,ECO:0000269|PubMed:20837484, ECO:0000269|PubMed:22065321,ECO:0000269|PubMed:22330140}. |
| 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 ANPEP_MMP14 |
| 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 ANPEP_MMP14 |
| 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 |
| ANPEP | ANPEP | MMP14 | LUM, LRP1, TIMP2, C1QBP, SPOCK3, BCAR1, RRAD, PLLP, CCDC155, FURIN, MMP3, TIMP1 |
| - 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 ANPEP_MMP14 |
| 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 |
| Hgene | ANPEP | P15144 | DB00973 | Ezetimibe | Aminopeptidase N {ECO:0000305} | small molecule | approved |
| Hgene | ANPEP | P15144 | DB06196 | Icatibant | Aminopeptidase N {ECO:0000305} | small molecule | approved|investigational |
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RelatedDiseases for ANPEP_MMP14 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ANPEP | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | ANPEP | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | ANPEP | C0149821 | ACUTE ALCOHOL WITHDRAWAL | 1 | PSYGENET |
| Hgene | ANPEP | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | MMP14 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | MMP14 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | MMP14 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | MMP14 | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human |
| Tgene | MMP14 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | MMP14 | C0162871 | Aortic Aneurysm, Abdominal | 1 | CTD_human |
| Tgene | MMP14 | C0432289 | Winchester syndrome (disorder) | 1 | UNIPROT |
| Tgene | MMP14 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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