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Fusion gene ID: 27745 |
FusionGeneSummary for PLXNB1_COL7A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLXNB1_COL7A1 | Fusion gene ID: 27745 | Hgene | Tgene | Gene symbol | PLXNB1 | COL7A1 | Gene ID | 5364 | 1294 |
| Gene name | plexin B1 | collagen type VII alpha 1 chain | |
| Synonyms | PLEXIN-B1|PLXN5|SEP | EBD1|EBDCT|EBR1|NDNC8 | |
| Cytomap | 3p21.31 | 3p21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | plexin-B1plexin 5semaphorin receptor SEP | collagen alpha-1(VII) chainLC collagencollagen VII, alpha-1 polypeptidecollagen, type VII, alpha 1long-chain collagen | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O43157 | Q02388 | |
| Ensembl transtripts involved in fusion gene | ENST00000296440, ENST00000358459, ENST00000358536, ENST00000448774, ENST00000456774, ENST00000465117, | ENST00000454817, ENST00000328333, ENST00000470076, | |
| Fusion gene scores | * DoF score | 7 X 8 X 5=280 | 4 X 4 X 3=48 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/280*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PLXNB1 [Title/Abstract] AND COL7A1 [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 | PLXNB1 | GO:0007162 | negative regulation of cell adhesion | 15218527 |
| Hgene | PLXNB1 | GO:0008360 | regulation of cell shape | 19843518 |
| Hgene | PLXNB1 | GO:0051493 | regulation of cytoskeleton organization | 19843518 |
| Hgene | PLXNB1 | GO:0071526 | semaphorin-plexin signaling pathway | 15218527|19843518 |
| 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 | OV | TCGA-25-2397-01A | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| * 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 | ENST00000296440 | ENST00000454817 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000296440 | ENST00000328333 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-intron | ENST00000296440 | ENST00000470076 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000358459 | ENST00000454817 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000358459 | ENST00000328333 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-intron | ENST00000358459 | ENST00000470076 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000358536 | ENST00000454817 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000358536 | ENST00000328333 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-intron | ENST00000358536 | ENST00000470076 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000448774 | ENST00000454817 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000448774 | ENST00000328333 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-intron | ENST00000448774 | ENST00000470076 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000456774 | ENST00000454817 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000456774 | ENST00000328333 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-intron | ENST00000456774 | ENST00000470076 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000465117 | ENST00000454817 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-3CDS | ENST00000465117 | ENST00000328333 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
| intron-intron | ENST00000465117 | ENST00000470076 | PLXNB1 | chr3 | 48454606 | - | COL7A1 | chr3 | 48625365 | - |
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FusionProtFeatures for PLXNB1_COL7A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLXNB1 | COL7A1 |
| Receptor for SEMA4D. Plays a role in RHOA activation andsubsequent changes of the actin cytoskeleton. Plays a role in axonguidance, invasive growth and cell migration.{ECO:0000269|PubMed:12196628, ECO:0000269|PubMed:12198496,ECO:0000269|PubMed:15210733, ECO:0000269|PubMed:19843518,ECO:0000269|PubMed:20877282, ECO:0000269|PubMed:21912513}. | Stratified squamous epithelial basement membrane proteinthat forms anchoring fibrils which may contribute to epithelialbasement membrane organization and adherence by interacting withextracellular matrix (ECM) proteins such as type IV collagen. |
| 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 PLXNB1_COL7A1 |
| 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 PLXNB1_COL7A1 |
| 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 |
| PLXNB1 | ARHGEF11, RND1, RND2, RND3, ARHGEF12, SEMA4D, RHOA, AKT1, GRB2, PLCG1, PLCG2, SOX4, DIAPH1, HNRNPD, SGTB, C21orf59, CENPO, CENPU, SMPX, HBB, HBA2 | COL7A1 | FN1, LAMA5, COL1A1, COL4A1, LAMB3, LAMC2, THBS1, LRRC57, MOV10, NXF1, NFKBIA, SNCA |
| - 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 PLXNB1_COL7A1 |
| 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 PLXNB1_COL7A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | COL7A1 | C0079474 | Hallopeau-Siemens Disease | 16 | ORPHANET;UNIPROT |
| Tgene | COL7A1 | C0432322 | Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) | 15 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL7A1 | C1851573 | Transient bullous dermolysis of the newborn | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL7A1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | COL7A1 | C0432321 | Epidermolysis bullosa, pretibial | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
| Tgene | COL7A1 | C1275114 | Epidermolysis Bullosa Pruriginosa | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL7A1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | COL7A1 | C1843761 | TOENAIL DYSTROPHY, ISOLATED | 1 | CTD_human;UNIPROT |
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