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Fusion gene ID: 23415 |
FusionGeneSummary for NAPSA_COL1A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NAPSA_COL1A2 | Fusion gene ID: 23415 | Hgene | Tgene | Gene symbol | NAPSA | COL1A2 | Gene ID | 9476 | 1278 |
| Gene name | napsin A aspartic peptidase | collagen type I alpha 2 chain | |
| Synonyms | KAP|Kdap|NAP1|NAPA|SNAPA | EDSARTH2|EDSCV|OI4 | |
| Cytomap | 19q13.33 | 7q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | napsin-AASP4TA01/TA02asp 4aspartyl protease 4kidney-derived aspartic protease-like proteinnapsin-1pronapsin A | collagen alpha-2(I) chainalpha 2 type I procollagenalpha 2(I) procollagenalpha 2(I)-collagenalpha-2 type I collagencollagen I, alpha-2 polypeptidecollagen of skin, tendon and bone, alpha-2 chaincollagen, type I, alpha 2type I procollagen | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | O96009 | P08123 | |
| Ensembl transtripts involved in fusion gene | ENST00000253719, | ENST00000297268, | |
| Fusion gene scores | * DoF score | 7 X 3 X 1=21 | 17 X 22 X 6=2244 |
| # samples | 7 | 22 | |
| ** MAII score | log2(7/21*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(22/2244*10)=-3.35049724708413 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NAPSA [Title/Abstract] AND COL1A2 [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 | NAPSA | GO:0033619 | membrane protein proteolysis | 14766755 |
| Hgene | NAPSA | GO:0043129 | surfactant homeostasis | 18216060 |
| Tgene | COL1A2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 17217948 |
| Tgene | COL1A2 | GO:0007266 | Rho protein signal transduction | 17217948 |
| 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 | LUAD | TCGA-J2-8192-01A | NAPSA | chr19 | 50865226 | - | COL1A2 | chr7 | 94049853 | + |
| * 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 | ENST00000253719 | ENST00000297268 | NAPSA | chr19 | 50865226 | - | COL1A2 | chr7 | 94049853 | + |
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FusionProtFeatures for NAPSA_COL1A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NAPSA | COL1A2 |
| May be involved in processing of pneumocyte surfactantprecursors. |
| 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 NAPSA_COL1A2 |
| 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 NAPSA_COL1A2 |
| 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 |
| NAPSA | ADAMTS1, HSPA5, RDH13, GRN, CTSD, NPTX1 | COL1A2 | SHBG, MYOC, LIG4, PAN2, COL1A1, PDGFA, PDGFB, SGTA, UBQLN1, ERAL1, CAMKMT, COMT, RAB5A, ZWINT, CDKN2AIP, FBXW7, SERPINB5, EGFR, SBF1, YAF2, TIMM44, CYLD |
| - 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 NAPSA_COL1A2 |
| 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 | COL1A2 | P08123 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-2(I) chain | biotech | approved|investigational |
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RelatedDiseases for NAPSA_COL1A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | COL1A2 | C0268362 | Osteogenesis imperfecta type III (disorder) | 17 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL1A2 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 14 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL1A2 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 11 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL1A2 | C0023931 | Lobstein's Disease | 6 | ORPHANET;UNIPROT |
| Tgene | COL1A2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | COL1A2 | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | COL1A2 | C0018824 | Heart valve disease | 1 | CTD_human |
| Tgene | COL1A2 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | COL1A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | COL1A2 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
| Tgene | COL1A2 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | COL1A2 | C0036421 | Systemic Scleroderma | 1 | CTD_human |
| Tgene | COL1A2 | C1857034 | Ehlers-Danlos syndrome, cardiac valvular form | 1 | CTD_human;ORPHANET |
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