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Fusion gene ID: 5650 |
FusionGeneSummary for CAV2_FAM189B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CAV2_FAM189B | Fusion gene ID: 5650 | Hgene | Tgene | Gene symbol | CAV2 | FAM189B | Gene ID | 858 | 10712 |
| Gene name | caveolin 2 | family with sequence similarity 189 member B | |
| Synonyms | CAV | C1orf2|COTE1 | |
| Cytomap | 7q31.2 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | caveolin-2caveolae protein, 20-kDcaveolin 2 isoform a and b | protein FAM189B | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P51636 | P81408 | |
| Ensembl transtripts involved in fusion gene | ENST00000462876, ENST00000222693, ENST00000343213, ENST00000393480, | ENST00000350210, ENST00000368368, ENST00000361361, ENST00000472550, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CAV2 [Title/Abstract] AND FAM189B [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 | CAV2 | GO:0006906 | vesicle fusion | 12743374 |
| Hgene | CAV2 | GO:0008286 | insulin receptor signaling pathway | 20455999 |
| Hgene | CAV2 | GO:0016050 | vesicle organization | 12743374 |
| Hgene | CAV2 | GO:0043410 | positive regulation of MAPK cascade | 20455999 |
| Hgene | CAV2 | GO:0043547 | positive regulation of GTPase activity | 8552590 |
| Hgene | CAV2 | GO:0048278 | vesicle docking | 12743374 |
| Hgene | CAV2 | GO:0070836 | caveola assembly | 12743374 |
| 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 | AI091384 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| * 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 |
| 3UTR-3CDS | ENST00000462876 | ENST00000350210 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| 3UTR-3CDS | ENST00000462876 | ENST00000368368 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| 3UTR-3CDS | ENST00000462876 | ENST00000361361 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| 3UTR-5UTR | ENST00000462876 | ENST00000472550 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| In-frame | ENST00000222693 | ENST00000350210 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| In-frame | ENST00000222693 | ENST00000368368 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| In-frame | ENST00000222693 | ENST00000361361 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| 5CDS-5UTR | ENST00000222693 | ENST00000472550 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| In-frame | ENST00000343213 | ENST00000350210 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| In-frame | ENST00000343213 | ENST00000368368 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| In-frame | ENST00000343213 | ENST00000361361 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| 5CDS-5UTR | ENST00000343213 | ENST00000472550 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| In-frame | ENST00000393480 | ENST00000350210 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| In-frame | ENST00000393480 | ENST00000368368 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| In-frame | ENST00000393480 | ENST00000361361 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
| 5CDS-5UTR | ENST00000393480 | ENST00000472550 | CAV2 | chr7 | 116139901 | + | FAM189B | chr1 | 155221669 | - |
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FusionProtFeatures for CAV2_FAM189B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CAV2 | FAM189B |
| May act as a scaffolding protein within caveolarmembranes. Interacts directly with G-protein alpha subunits andcan functionally regulate their activity. Acts as an accessoryprotein in conjunction with CAV1 in targeting to lipid rafts anddriving caveolae formation. The Ser-36 phosphorylated form has arole in modulating mitosis in endothelial cells. Positiveregulator of cellular mitogenesis of the MAPK signaling pathway.Required for the insulin-stimulated nuclear translocation andactivation of MAPK1 and STAT3, and the subsequent regulation ofcell cycle progression (By similarity). {ECO:0000250,ECO:0000269|PubMed:15504032, ECO:0000269|PubMed:18081315}. |
| 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 CAV2_FAM189B |
| 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_CAV2_ENST00000222693_chr7_116139901_+_FAM189B_ENST00000350210_chr1_155221669_-_0aa >In-frame_CAV2_ENST00000222693_chr7_116139901_+_FAM189B_ENST00000368368_chr1_155221669_-_0aa >In-frame_CAV2_ENST00000222693_chr7_116139901_+_FAM189B_ENST00000361361_chr1_155221669_-_0aa >In-frame_CAV2_ENST00000343213_chr7_116139901_+_FAM189B_ENST00000350210_chr1_155221669_-_0aa >In-frame_CAV2_ENST00000343213_chr7_116139901_+_FAM189B_ENST00000368368_chr1_155221669_-_0aa >In-frame_CAV2_ENST00000343213_chr7_116139901_+_FAM189B_ENST00000361361_chr1_155221669_-_0aa >In-frame_CAV2_ENST00000393480_chr7_116139901_+_FAM189B_ENST00000350210_chr1_155221669_-_0aa >In-frame_CAV2_ENST00000393480_chr7_116139901_+_FAM189B_ENST00000368368_chr1_155221669_-_0aa >In-frame_CAV2_ENST00000393480_chr7_116139901_+_FAM189B_ENST00000361361_chr1_155221669_-_0aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_CAV2_ENST00000222693_chr7_116139901_+_FAM189B_ENST00000350210_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000222693_chr7_116139901_+_FAM189B_ENST00000368368_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000222693_chr7_116139901_+_FAM189B_ENST00000361361_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000343213_chr7_116139901_+_FAM189B_ENST00000350210_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000343213_chr7_116139901_+_FAM189B_ENST00000368368_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000343213_chr7_116139901_+_FAM189B_ENST00000361361_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000393480_chr7_116139901_+_FAM189B_ENST00000350210_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000393480_chr7_116139901_+_FAM189B_ENST00000368368_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000393480_chr7_116139901_+_FAM189B_ENST00000361361_chr1_155221669_-_0nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_CAV2_ENST00000222693_chr7_116139901_+_FAM189B_ENST00000350210_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000222693_chr7_116139901_+_FAM189B_ENST00000368368_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000222693_chr7_116139901_+_FAM189B_ENST00000361361_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000343213_chr7_116139901_+_FAM189B_ENST00000350210_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000343213_chr7_116139901_+_FAM189B_ENST00000368368_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000343213_chr7_116139901_+_FAM189B_ENST00000361361_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000393480_chr7_116139901_+_FAM189B_ENST00000350210_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000393480_chr7_116139901_+_FAM189B_ENST00000368368_chr1_155221669_-_0nt >In-frame_CAV2_ENST00000393480_chr7_116139901_+_FAM189B_ENST00000361361_chr1_155221669_-_0nt |
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FusionGenePPI for CAV2_FAM189B |
| 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 CAV2_FAM189B |
| 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 CAV2_FAM189B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CAV2 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | CAV2 | C0004238 | Atrial Fibrillation | 1 | CTD_human |
| Hgene | CAV2 | C0017612 | Glaucoma, Open-Angle | 1 | CTD_human |
| Hgene | CAV2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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