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Fusion gene ID: 38392 |
FusionGeneSummary for TMEM123_MMP20 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM123_MMP20 | Fusion gene ID: 38392 | Hgene | Tgene | Gene symbol | TMEM123 | MMP20 | Gene ID | 114908 | 64386 |
| Gene name | transmembrane protein 123 | matrix metallopeptidase 25 | |
| Synonyms | KCT3|PORIMIN|PORMIN | MMP-25|MMP20|MMP20A|MMPL1|MT-MMP 6|MT-MMP6|MT6-MMP|MT6MMP|MTMMP6 | |
| Cytomap | 11q22.2 | 16p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | poriminKCT-3keratinocytes associated transmembrane protein 3pro-oncosis receptor inducing membrane injuryserine/threonine-rich receptor | matrix metalloproteinase-25leukolysinmatrix metallopeptidase-like 1matrix metalloproteinase 20matrix metalloproteinase-like 1membrane-type 6 matrix metalloproteinasemembrane-type matrix metalloproteinase 6 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q8N131 | O60882 | |
| Ensembl transtripts involved in fusion gene | ENST00000361236, ENST00000398136, ENST00000532161, ENST00000525577, | ENST00000260228, ENST00000544938, | |
| Fusion gene scores | * DoF score | 7 X 3 X 8=168 | 2 X 3 X 4=24 |
| # samples | 9 | 4 | |
| ** MAII score | log2(9/168*10)=-0.900464326449086 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TMEM123 [Title/Abstract] AND MMP20 [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 |
| Hgene | TMEM123 | GO:0070267 | oncosis | 9600958|11481458 |
| 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 | RV | COAD | TCGA-CA-5254-01A | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102464326 | - |
| TCGA | RV | LUAD | TCGA-35-4122-01A | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102480761 | - |
| TCGA | RV | STAD | TCGA-CD-8527-01A | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102449873 | - |
| * 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 | ENST00000361236 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102464326 | - |
| intron-intron | ENST00000361236 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102464326 | - |
| In-frame | ENST00000398136 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102464326 | - |
| 5CDS-intron | ENST00000398136 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102464326 | - |
| 5UTR-3CDS | ENST00000532161 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102464326 | - |
| 5UTR-intron | ENST00000532161 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102464326 | - |
| 5UTR-3CDS | ENST00000525577 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102464326 | - |
| 5UTR-intron | ENST00000525577 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102464326 | - |
| intron-3CDS | ENST00000361236 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102480761 | - |
| intron-intron | ENST00000361236 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102480761 | - |
| In-frame | ENST00000398136 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102480761 | - |
| 5CDS-intron | ENST00000398136 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102480761 | - |
| 5UTR-3CDS | ENST00000532161 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102480761 | - |
| 5UTR-intron | ENST00000532161 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102480761 | - |
| 5UTR-3CDS | ENST00000525577 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102480761 | - |
| 5UTR-intron | ENST00000525577 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102480761 | - |
| intron-3CDS | ENST00000361236 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102449873 | - |
| intron-intron | ENST00000361236 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102449873 | - |
| Frame-shift | ENST00000398136 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102449873 | - |
| 5CDS-intron | ENST00000398136 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102449873 | - |
| 5UTR-3CDS | ENST00000532161 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102449873 | - |
| 5UTR-intron | ENST00000532161 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102449873 | - |
| 5UTR-3CDS | ENST00000525577 | ENST00000260228 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102449873 | - |
| 5UTR-intron | ENST00000525577 | ENST00000544938 | TMEM123 | chr11 | 102319543 | - | MMP20 | chr11 | 102449873 | - |
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FusionProtFeatures for TMEM123_MMP20 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM123 | MMP20 |
| Implicated in oncotic cell death, characterized by cellswelling, organelle swelling, vacuolization and increased membranepermeability. {ECO:0000269|PubMed:11481458}. | Degrades amelogenin, the major protein component of theenamel matrix and two of the macromolecules characterizing thecartilage extracellular matrix: aggrecan and the cartilageoligomeric matrix protein (COMP). May play a central role in toothenamel formation. Cleaves aggrecan at the '360-Asn-|-Phe-361'site. {ECO:0000269|PubMed:10922468, ECO:0000269|PubMed:9398237}. |
| 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 TMEM123_MMP20 |
| 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. |
| >In-frame_TMEM123_ENST00000398136_chr11_102319543_-_MMP20_ENST00000260228_chr11_102464326_-_173aa MGLGARGAWAALLLGTLQVLALLGAAHESAAMAASANIENSGLPHNSSANSTGPHYWITRGFQMQGPPRTIYDFGFPRHVQQIDAAVYLR >In-frame_TMEM123_ENST00000398136_chr11_102319543_-_MMP20_ENST00000260228_chr11_102480761_-_362aa MGLGARGAWAALLLGTLQVLALLGAAHESAAMAASANIENSGLPHNSSANSTDHGDSYPFDGPRGTLAHAFAPGEGLGGDTHFDNAEKWT MGTNGFNLFTVAAHEFGHALGLAHSTDPSALMYPTYKYKNPYGFHLPKDDVKGIQALYGPRKVFLGKPTLPHAPHHKPSIPDLCDSSSSF DAVTMLGKELLLFKDRIFWRRQVHLRTGIRPSTITSSFPQLMSNVDAAYEVAERGTAYFFKGPHYWITRGFQMQGPPRTIYDFGFPRHVQ QIDAAVYLREPQKTLFFVGDEYYSYDERKRKMEKDYPKNTEEEFSGVNGQIDAAVELNGYIYFFSGPKTYKYDTEKEDVVSVVKSSSWIG |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TMEM123_ENST00000398136_chr11_102319543_-_MMP20_ENST00000260228_chr11_102464326_-_519nt ATGGGACTCGGCGCGCGAGGTGCTTGGGCCGCGCTGCTCCTGGGGACGCTGCAGGTGCTAGCGCTGCTGGGGGCCGCCCATGAAAGCGCA GCCATGGCGGCATCTGCAAACATAGAGAATTCTGGGCTTCCACACAACTCCAGTGCTAACTCAACAGGTCCCCACTACTGGATAACAAGA GGATTCCAAATGCAAGGTCCTCCTCGGACTATTTATGACTTTGGATTTCCAAGGCACGTGCAGCAAATAGATGCTGCTGTCTACCTCAGG GAGCCACAGAAGACCCTTTTCTTTGTGGGAGATGAATACTACAGCTACGACGAAAGGAAAAGGAAAATGGAAAAAGACTATCCAAAGAAT ACTGAAGAAGAATTTTCAGGAGTAAATGGCCAAATCGATGCTGCTGTAGAATTAAATGGCTACATTTACTTCTTTTCAGGACCAAAAACA >In-frame_TMEM123_ENST00000398136_chr11_102319543_-_MMP20_ENST00000260228_chr11_102480761_-_1086nt ATGGGACTCGGCGCGCGAGGTGCTTGGGCCGCGCTGCTCCTGGGGACGCTGCAGGTGCTAGCGCTGCTGGGGGCCGCCCATGAAAGCGCA GCCATGGCGGCATCTGCAAACATAGAGAATTCTGGGCTTCCACACAACTCCAGTGCTAACTCAACAGATCACGGGGATTCCTATCCATTC GATGGGCCTCGGGGGACTCTAGCCCATGCATTTGCTCCTGGAGAAGGCCTGGGAGGAGATACACATTTCGACAATGCTGAGAAGTGGACT ATGGGAACGAATGGTTTTAATTTGTTTACCGTTGCTGCTCATGAATTTGGCCATGCCCTGGGCCTGGCCCATTCCACAGACCCATCAGCA CTGATGTACCCAACTTATAAGTACAAGAATCCCTATGGATTCCACCTCCCCAAAGATGATGTGAAAGGGATCCAGGCATTATACGGACCT CGGAAAGTATTCCTGGGGAAGCCCACTCTGCCCCATGCCCCCCATCACAAGCCATCCATCCCTGACCTCTGTGACTCCAGCTCATCCTTT GACGCTGTGACAATGCTGGGGAAGGAGCTCCTGCTCTTCAAGGACCGGATTTTCTGGAGACGGCAGGTTCACTTGCGGACAGGAATTCGG CCCAGCACTATTACCAGCTCCTTCCCCCAGCTCATGTCCAATGTGGATGCAGCTTACGAAGTGGCTGAGAGGGGCACTGCTTACTTCTTC AAAGGTCCCCACTACTGGATAACAAGAGGATTCCAAATGCAAGGTCCTCCTCGGACTATTTATGACTTTGGATTTCCAAGGCACGTGCAG CAAATAGATGCTGCTGTCTACCTCAGGGAGCCACAGAAGACCCTTTTCTTTGTGGGAGATGAATACTACAGCTACGACGAAAGGAAAAGG AAAATGGAAAAAGACTATCCAAAGAATACTGAAGAAGAATTTTCAGGAGTAAATGGCCAAATCGATGCTGCTGTAGAATTAAATGGCTAC ATTTACTTCTTTTCAGGACCAAAAACATACAAGTATGACACAGAGAAGGAAGATGTGGTTAGTGTGGTGAAATCTAGTTCCTGGATTGGT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TMEM123_ENST00000398136_chr11_102319543_-_MMP20_ENST00000260228_chr11_102464326_-_1431nt AAAGGCTTCCTTCCGGGCACCGCGAAGCCAGCGTGCTCAGCATTCAGGGAGGCAGCGGCGCTCGCCTTCATCCAGGACAACAAAACTGCC ATTTCCGAAGAGAAAGGAAACGGCTCGCGGTTTCTGGGGTTCCCAAGCGCGCGCCTGCGAGGGAGGCCGCGAGCCGAGTCGCCACGCCCA GAACCCCGAGCCCGCCCCCGCGCCACCCAGCCCGGCCCCGCCGCCCCGGCTGCGCACGCGACGCCCCCTCCAGGCCCCGCTCCTGCGCCC TATTTGGTCATTCGGGGGGCAAGCGGCGGGAGGGGAAACGTGCGCGGCCGAAGGGGAAGCGGAGCCGGCGCCGGCTGCGCAGAGGAGCCG CTCTCGCCGCCGCCACCTCGGCTGGGAGCCCACGAGGCTGCCGCATCCTGCCCTCGGAACAATGGGACTCGGCGCGCGAGGTGCTTGGGC CGCGCTGCTCCTGGGGACGCTGCAGGTGCTAGCGCTGCTGGGGGCCGCCCATGAAAGCGCAGCCATGGCGGCATCTGCAAACATAGAGAA TTCTGGGCTTCCACACAACTCCAGTGCTAACTCAACAGGTCCCCACTACTGGATAACAAGAGGATTCCAAATGCAAGGTCCTCCTCGGAC TATTTATGACTTTGGATTTCCAAGGCACGTGCAGCAAATAGATGCTGCTGTCTACCTCAGGGAGCCACAGAAGACCCTTTTCTTTGTGGG AGATGAATACTACAGCTACGACGAAAGGAAAAGGAAAATGGAAAAAGACTATCCAAAGAATACTGAAGAAGAATTTTCAGGAGTAAATGG CCAAATCGATGCTGCTGTAGAATTAAATGGCTACATTTACTTCTTTTCAGGACCAAAAACATACAAGTATGACACAGAGAAGGAAGATGT GGTTAGTGTGGTGAAATCTAGTTCCTGGATTGGTTGCTAAATAGAAAAGCCTAGTCTTCTCAAGCAATGAGGATGACTACAAGCAGCCTC TAACTGGATCTTAAGGACTAAAGCAGAATGTAGGAGAGGGATTCTTCCAAAGGCCTTCAAATCAAATTAGAATTCACTGAGAATAATAAT ACTTCCAATTTTTTTCATAGTTGTATAATCAGAATTTCAATCCACATTAGAAAAGTTTTTATATGGGCAACTTTATGCGAAATCCAAATC AACACAATGCACTCTGCAGTTAGACACCATTATTTTTTCTTACCTAATATACTGAAGCAGATTGATCCGTTTGATTTTTATTTCCAGGAG GAAGACTAGTGGTGGATTCCATGACATATATTGTAATTCTTTTCATAGGAAATGTCATTACAGTATGAATTATAATTATTTACAAGCAAT >In-frame_TMEM123_ENST00000398136_chr11_102319543_-_MMP20_ENST00000260228_chr11_102480761_-_1998nt AAAGGCTTCCTTCCGGGCACCGCGAAGCCAGCGTGCTCAGCATTCAGGGAGGCAGCGGCGCTCGCCTTCATCCAGGACAACAAAACTGCC ATTTCCGAAGAGAAAGGAAACGGCTCGCGGTTTCTGGGGTTCCCAAGCGCGCGCCTGCGAGGGAGGCCGCGAGCCGAGTCGCCACGCCCA GAACCCCGAGCCCGCCCCCGCGCCACCCAGCCCGGCCCCGCCGCCCCGGCTGCGCACGCGACGCCCCCTCCAGGCCCCGCTCCTGCGCCC TATTTGGTCATTCGGGGGGCAAGCGGCGGGAGGGGAAACGTGCGCGGCCGAAGGGGAAGCGGAGCCGGCGCCGGCTGCGCAGAGGAGCCG CTCTCGCCGCCGCCACCTCGGCTGGGAGCCCACGAGGCTGCCGCATCCTGCCCTCGGAACAATGGGACTCGGCGCGCGAGGTGCTTGGGC CGCGCTGCTCCTGGGGACGCTGCAGGTGCTAGCGCTGCTGGGGGCCGCCCATGAAAGCGCAGCCATGGCGGCATCTGCAAACATAGAGAA TTCTGGGCTTCCACACAACTCCAGTGCTAACTCAACAGATCACGGGGATTCCTATCCATTCGATGGGCCTCGGGGGACTCTAGCCCATGC ATTTGCTCCTGGAGAAGGCCTGGGAGGAGATACACATTTCGACAATGCTGAGAAGTGGACTATGGGAACGAATGGTTTTAATTTGTTTAC CGTTGCTGCTCATGAATTTGGCCATGCCCTGGGCCTGGCCCATTCCACAGACCCATCAGCACTGATGTACCCAACTTATAAGTACAAGAA TCCCTATGGATTCCACCTCCCCAAAGATGATGTGAAAGGGATCCAGGCATTATACGGACCTCGGAAAGTATTCCTGGGGAAGCCCACTCT GCCCCATGCCCCCCATCACAAGCCATCCATCCCTGACCTCTGTGACTCCAGCTCATCCTTTGACGCTGTGACAATGCTGGGGAAGGAGCT CCTGCTCTTCAAGGACCGGATTTTCTGGAGACGGCAGGTTCACTTGCGGACAGGAATTCGGCCCAGCACTATTACCAGCTCCTTCCCCCA GCTCATGTCCAATGTGGATGCAGCTTACGAAGTGGCTGAGAGGGGCACTGCTTACTTCTTCAAAGGTCCCCACTACTGGATAACAAGAGG ATTCCAAATGCAAGGTCCTCCTCGGACTATTTATGACTTTGGATTTCCAAGGCACGTGCAGCAAATAGATGCTGCTGTCTACCTCAGGGA GCCACAGAAGACCCTTTTCTTTGTGGGAGATGAATACTACAGCTACGACGAAAGGAAAAGGAAAATGGAAAAAGACTATCCAAAGAATAC TGAAGAAGAATTTTCAGGAGTAAATGGCCAAATCGATGCTGCTGTAGAATTAAATGGCTACATTTACTTCTTTTCAGGACCAAAAACATA CAAGTATGACACAGAGAAGGAAGATGTGGTTAGTGTGGTGAAATCTAGTTCCTGGATTGGTTGCTAAATAGAAAAGCCTAGTCTTCTCAA GCAATGAGGATGACTACAAGCAGCCTCTAACTGGATCTTAAGGACTAAAGCAGAATGTAGGAGAGGGATTCTTCCAAAGGCCTTCAAATC AAATTAGAATTCACTGAGAATAATAATACTTCCAATTTTTTTCATAGTTGTATAATCAGAATTTCAATCCACATTAGAAAAGTTTTTATA TGGGCAACTTTATGCGAAATCCAAATCAACACAATGCACTCTGCAGTTAGACACCATTATTTTTTCTTACCTAATATACTGAAGCAGATT GATCCGTTTGATTTTTATTTCCAGGAGGAAGACTAGTGGTGGATTCCATGACATATATTGTAATTCTTTTCATAGGAAATGTCATTACAG TATGAATTATAATTATTTACAAGCAATGGCTTTTGTGGCCATCATTTGGCCATCATTTGTTATAATAAATATAAATTTCCCAATTTTTAC |
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FusionGenePPI for TMEM123_MMP20 |
| 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 |
| TMEM123 | MAGEA11, ELAVL1, WDFY1 | MMP20 |
| - 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 TMEM123_MMP20 |
| 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 |
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RelatedDiseases for TMEM123_MMP20 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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