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Fusion gene ID: 39068 |
FusionGeneSummary for TOMM40_PVRL2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TOMM40_PVRL2 | Fusion gene ID: 39068 | Hgene | Tgene | Gene symbol | TOMM40 | PVRL2 | Gene ID | 10452 | 5819 |
| Gene name | translocase of outer mitochondrial membrane 40 | nectin cell adhesion molecule 2 | |
| Synonyms | C19orf1|D19S1177E|PER-EC1|PEREC1|TOM40 | CD112|HVEB|PRR2|PVRL2|PVRR2 | |
| Cytomap | 19q13.32 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial import receptor subunit TOM40 homologmitochondrial outer membrane proteinp38.5protein Haymakertranslocase of outer membrane 40 kDa subunit homologtranslocase of outer mitochondrial membrane 40 homolog | nectin-2herpesvirus entry protein Bpoliovirus receptor-like 2poliovirus receptor-related 2 (herpesvirus entry mediator B) | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | O96008 | ||
| Ensembl transtripts involved in fusion gene | ENST00000405636, ENST00000252487, ENST00000592434, ENST00000426677, | ENST00000252485, ENST00000252483, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 2 X 3=18 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: TOMM40 [Title/Abstract] AND PVRL2 [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 | PVRL2 | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | 9845526 |
| Tgene | PVRL2 | GO:0019064 | fusion of virus membrane with host plasma membrane | 12915581 |
| Tgene | PVRL2 | GO:0044406 | adhesion of symbiont to host | 12915581 |
| Tgene | PVRL2 | GO:0046596 | regulation of viral entry into host cell | 11602758 |
| Tgene | PVRL2 | GO:0046814 | coreceptor-mediated virion attachment to host cell | 12915581 |
| Tgene | PVRL2 | GO:0050862 | positive regulation of T cell receptor signaling pathway | 26755705 |
| Tgene | PVRL2 | GO:0060370 | susceptibility to T cell mediated cytotoxicity | 15039383 |
| 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 | BRCA | TCGA-AO-A129-01A | TOMM40 | chr19 | 45394946 | + | PVRL2 | chr19 | 45375110 | + |
| * 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 |
| In-frame | ENST00000405636 | ENST00000252485 | TOMM40 | chr19 | 45394946 | + | PVRL2 | chr19 | 45375110 | + |
| In-frame | ENST00000405636 | ENST00000252483 | TOMM40 | chr19 | 45394946 | + | PVRL2 | chr19 | 45375110 | + |
| In-frame | ENST00000252487 | ENST00000252485 | TOMM40 | chr19 | 45394946 | + | PVRL2 | chr19 | 45375110 | + |
| In-frame | ENST00000252487 | ENST00000252483 | TOMM40 | chr19 | 45394946 | + | PVRL2 | chr19 | 45375110 | + |
| In-frame | ENST00000592434 | ENST00000252485 | TOMM40 | chr19 | 45394946 | + | PVRL2 | chr19 | 45375110 | + |
| In-frame | ENST00000592434 | ENST00000252483 | TOMM40 | chr19 | 45394946 | + | PVRL2 | chr19 | 45375110 | + |
| In-frame | ENST00000426677 | ENST00000252485 | TOMM40 | chr19 | 45394946 | + | PVRL2 | chr19 | 45375110 | + |
| In-frame | ENST00000426677 | ENST00000252483 | TOMM40 | chr19 | 45394946 | + | PVRL2 | chr19 | 45375110 | + |
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FusionProtFeatures for TOMM40_PVRL2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TOMM40 | PVRL2 |
| Channel-forming protein essential for import of proteinprecursors into mitochondria. {ECO:0000269|PubMed:15644312}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 |
| Hgene | TOMM40 | chr19:45394946 | chr19:45375110 | ENST00000252487 | + | 2 | 10 | 10_39 | 91 | 362 | Compositional bias | Note=Pro-rich |
| Hgene | TOMM40 | chr19:45394946 | chr19:45375110 | ENST00000405636 | + | 2 | 10 | 10_39 | 91 | 362 | Compositional bias | Note=Pro-rich |
| Hgene | TOMM40 | chr19:45394946 | chr19:45375110 | ENST00000426677 | + | 1 | 9 | 10_39 | 91 | 362 | Compositional bias | Note=Pro-rich |
| Hgene | TOMM40 | chr19:45394946 | chr19:45375110 | ENST00000592434 | + | 2 | 9 | 10_39 | 91 | 330 | Compositional bias | Note=Pro-rich |
| Tgene | >PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252483 | + | 1 | 9 | 162_256 | 159 | 539 | Domain | Note=Ig-like C2-type 1 |
| Tgene | >PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252483 | + | 1 | 9 | 261_345 | 159 | 539 | Domain | Note=Ig-like C2-type 2 |
| Tgene | >PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252485 | + | 1 | 6 | 162_256 | 159 | 480 | Domain | Note=Ig-like C2-type 1 |
| Tgene | >PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252485 | + | 1 | 6 | 261_345 | 159 | 480 | Domain | Note=Ig-like C2-type 2 |
| Tgene | >PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252483 | + | 1 | 9 | 382_538 | 159 | 539 | Topological domain | Cytoplasmic |
| Tgene | >PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252485 | + | 1 | 6 | 382_538 | 159 | 480 | Topological domain | Cytoplasmic |
| Tgene | >PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252483 | + | 1 | 9 | 361_381 | 159 | 539 | Transmembrane | Helical |
| Tgene | >PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252485 | + | 1 | 6 | 361_381 | 159 | 480 | Transmembrane | Helical |
| - 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 |
| Tgene | PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252483 | + | 1 | 9 | 32_156 | 159 | 539 | Domain | Note=Ig-like V-type |
| Tgene | PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252485 | + | 1 | 6 | 32_156 | 159 | 480 | Domain | Note=Ig-like V-type |
| Tgene | PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252483 | + | 1 | 9 | 32_360 | 159 | 539 | Topological domain | Extracellular |
| Tgene | PVRL2 | chr19:45394946 | chr19:45375110 | ENST00000252485 | + | 1 | 6 | 32_360 | 159 | 480 | Topological domain | Extracellular |
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FusionGeneSequence for TOMM40_PVRL2 |
| 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 TOMM40_PVRL2 |
| 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 |
| TOMM40 | BAX, TOMM22, TOMM20, PINK1, TOMM7, TOMM70A, NIPBL, SF1, ABCB6, SRPRB, BAK1, SRP9, OXA1L, LAMTOR3, SDHB, FIS1, FAF2, C1QBP, SEPT11, SBDS, FLOT2, MRPL55, NDUFA7, SAMM50, TIMM50, CPT1A, ALDH5A1, NUPL1, TAX1BP3, PRDX5, UBAP2, ACAA2, SFPQ, RMDN3, ABCD3, EIF3A, SLC9A3R2, TIAL1, TAGLN2, SERPINH1, SNRPC, FMNL1, HSP90AA1, HSPA4, MTX1, PARK2, UBAC2, TRABD, SLAMF1, LYPD3, WNT4, LRRTM2, KLRF1, LDLRAD4, AIFM1, ANXA11, CAB39, CHCHD2, CISD1, COX5B, CPT2, CYC1, EEF2, FUBP1, MTCH1, MTCH2, NDUFA2, NDUFB8, NDUFS1, NDUFV1, PHB2, PRCP, QARS, RAB1B, SGPL1, SLC25A3, AP2B1, ATP1B1, ATP1B3, CAPZB, DLD, GSR, HADHA, HMGCL, HSD17B10, PSMD7, VAPA, VDAC1, VDAC2, VDAC3, ATP2B1, ATP5I, FKBP1A, ITIH1, RNF5, BAG2, NOS1AP, STUB1, CEPT1, FARS2, IMMT, CHCHD3, SLC35F6, CCDC94, PHACTR4, TUBB6, LAMA1, FOXA3, FOXB1, FOXI1, FOXJ2, FOXL1, COQ9, NDUFA4, OCIAD1, DUSP21, DUSP22, NCR3LG1, KRBA1, FOXRED2, CYP2C9, PDHA1, UBE2A | PVRL2 | MDFI, CD226, ATP5J2, PVRL2, MLLT4, MAPK6, PVRL4, PVRL3, TIGIT, USP53, DUS2, LYRM4, KRTAP5-9, SIAH1, KRTAP10-7, KRTAP10-1, KRTAP10-5, KRTAP10-3, NOTCH2NL, CEACAM21, FUT9, TBC1D22A, PICK1, TMEM17, TMEM216, CDH1, CTDSPL, TMEM30B, RARS, SYPL2, BTBD1, SERPINA12, PANK2, ALOXE3, APOD, AKAP12 |
| - 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 TOMM40_PVRL2 |
| 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 TOMM40_PVRL2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TOMM40 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | TOMM40 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | TOMM40 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Hgene | TOMM40 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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