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Fusion gene ID: 7965 |
FusionGeneSummary for COL4A4_VPS26B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL4A4_VPS26B | Fusion gene ID: 7965 | Hgene | Tgene | Gene symbol | COL4A4 | VPS26B | Gene ID | 1286 | 112936 |
| Gene name | collagen type IV alpha 4 chain | VPS26, retromer complex component B | |
| Synonyms | CA44 | Pep8b | |
| Cytomap | 2q36.3 | 11q25 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-4(IV) chainCollagen IV, alpha-4 polypeptidecollagen of basement membrane, alpha-4 chaincollagen, type IV, alpha 4 | vacuolar protein sorting-associated protein 26Bvesicle protein sorting 26B | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P53420 | Q4G0F5 | |
| Ensembl transtripts involved in fusion gene | ENST00000396625, ENST00000329662, | ENST00000281187, ENST00000525095, ENST00000530402, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 2=18 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: COL4A4 [Title/Abstract] AND VPS26B [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 |
| 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 |
| ChiTaRS3.1 | BF376481 | COL4A4 | chr2 | 227972900 | + | VPS26B | chr11 | 134116898 | + |
| * 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-3UTR | ENST00000396625 | ENST00000281187 | COL4A4 | chr2 | 227972900 | + | VPS26B | chr11 | 134116898 | + |
| intron-intron | ENST00000396625 | ENST00000525095 | COL4A4 | chr2 | 227972900 | + | VPS26B | chr11 | 134116898 | + |
| intron-intron | ENST00000396625 | ENST00000530402 | COL4A4 | chr2 | 227972900 | + | VPS26B | chr11 | 134116898 | + |
| intron-3UTR | ENST00000329662 | ENST00000281187 | COL4A4 | chr2 | 227972900 | + | VPS26B | chr11 | 134116898 | + |
| intron-intron | ENST00000329662 | ENST00000525095 | COL4A4 | chr2 | 227972900 | + | VPS26B | chr11 | 134116898 | + |
| intron-intron | ENST00000329662 | ENST00000530402 | COL4A4 | chr2 | 227972900 | + | VPS26B | chr11 | 134116898 | + |
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FusionProtFeatures for COL4A4_VPS26B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL4A4 | VPS26B |
| Type IV collagen is the major structural component ofglomerular basement membranes (GBM), forming a 'chicken-wire'meshwork together with laminins, proteoglycans andentactin/nidogen. | Acts as component of the retromer cargo-selectivecomplex (CSC). The CSC is believed to be the core functionalcomponent of retromer or respective retromer complex variantsacting to prevent missorting of selected transmembrane cargoproteins into the lysosomal degradation pathway. The recruitmentof the CSC to the endosomal membrane involves RAB7A and SNX3. TheSNX-BAR retromer mediates retrograde transport of cargo proteinsfrom endosomes to the trans-Golgi network (TGN) and is involved inendosome-to-plasma membrane transport for cargo protein recycling.The SNX3-retromer mediates the retrograde transport of WLSdistinct from the SNX-BAR retromer pathway. The SNX27-retromer isbelieved to be involved in endosome-to-plasma membrane traffickingand recycling of a broad spectrum of cargo proteins. The CSC seemsto act as recruitment hub for other proteins, such as the WASHcomplex and TBC1D5. May be involved in retrograde transport ofSORT1 but not of IGF2R. Acts redundantly with VSP26A in SNX-27mediated endocytic recycling of SLC2A1/GLUT1 (By similarity).{ECO:0000250|UniProtKB:O75436, ECO:0000250|UniProtKB:Q8C0E2}. |
| 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 COL4A4_VPS26B |
| 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 COL4A4_VPS26B |
| 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 |
| - 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 COL4A4_VPS26B |
| 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 COL4A4_VPS26B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL4A4 | C0241908 | Hematuria, Benign Familial | 3 | UNIPROT |
| Hgene | COL4A4 | C1567744 | Alport Syndrome, Autosomal Recessive | 2 | ORPHANET;UNIPROT |
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