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Fusion gene ID: 5647 |
FusionGeneSummary for CAV1_IQGAP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CAV1_IQGAP2 | Fusion gene ID: 5647 | Hgene | Tgene | Gene symbol | CAV1 | IQGAP2 | Gene ID | 857 | 10788 |
| Gene name | caveolin 1 | IQ motif containing GTPase activating protein 2 | |
| Synonyms | BSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21 | - | |
| Cytomap | 7q31.2 | 5q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | caveolin-1caveolin 1, caveolae protein, 22kDacell growth-inhibiting protein 32 | ras GTPase-activating-like protein IQGAP2 | |
| Modification date | 20180527 | 20180522 | |
| UniProtAcc | Q03135 | Q13576 | |
| Ensembl transtripts involved in fusion gene | ENST00000341049, ENST00000393470, ENST00000405348, ENST00000393468, ENST00000393467, | ENST00000274364, ENST00000379730, ENST00000396234, ENST00000502745, ENST00000508410, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 4 X 4 X 3=48 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CAV1 [Title/Abstract] AND IQGAP2 [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 | CAV1 | GO:0009617 | response to bacterium | 24625804 |
| Hgene | CAV1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 25893292 |
| Hgene | CAV1 | GO:0031295 | T cell costimulation | 17287217 |
| Hgene | CAV1 | GO:0031623 | receptor internalization | 25893292 |
| Hgene | CAV1 | GO:0032091 | negative regulation of protein binding | 16890161 |
| Hgene | CAV1 | GO:0032570 | response to progesterone | 12388746 |
| Hgene | CAV1 | GO:0033137 | negative regulation of peptidyl-serine phosphorylation | 18081315 |
| Hgene | CAV1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 18081315 |
| Hgene | CAV1 | GO:0043627 | response to estrogen | 12388746 |
| Hgene | CAV1 | GO:0051480 | regulation of cytosolic calcium ion concentration | 19052258 |
| Hgene | CAV1 | GO:0072584 | caveolin-mediated endocytosis | 19931615 |
| Hgene | CAV1 | GO:1900027 | regulation of ruffle assembly | 24625804 |
| Hgene | CAV1 | GO:2000535 | regulation of entry of bacterium into host cell | 24625804 |
| Tgene | IQGAP2 | GO:0034314 | Arp2/3 complex-mediated actin nucleation | 12515716 |
| Tgene | IQGAP2 | GO:0070493 | thrombin-activated receptor signaling pathway | 12515716 |
| 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 | BE930754 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| * 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 | ENST00000341049 | ENST00000274364 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000341049 | ENST00000379730 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000341049 | ENST00000396234 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000341049 | ENST00000502745 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000341049 | ENST00000508410 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000393470 | ENST00000274364 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000393470 | ENST00000379730 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000393470 | ENST00000396234 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000393470 | ENST00000502745 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000393470 | ENST00000508410 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000405348 | ENST00000274364 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000405348 | ENST00000379730 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000405348 | ENST00000396234 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000405348 | ENST00000502745 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000405348 | ENST00000508410 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000393468 | ENST00000274364 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000393468 | ENST00000379730 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000393468 | ENST00000396234 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000393468 | ENST00000502745 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000393468 | ENST00000508410 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000393467 | ENST00000274364 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000393467 | ENST00000379730 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000393467 | ENST00000396234 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-intron | ENST00000393467 | ENST00000502745 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
| intron-3UTR | ENST00000393467 | ENST00000508410 | CAV1 | chr7 | 116184295 | - | IQGAP2 | chr5 | 76003230 | - |
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FusionProtFeatures for CAV1_IQGAP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CAV1 | IQGAP2 |
| May act as a scaffolding protein within caveolarmembranes. Interacts directly with G-protein alpha subunits andcan functionally regulate their activity (By similarity). Involvedin the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cellproliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and mayregulate CTNNB1-mediated signaling through the Wnt pathway.Negatively regulates TGFB1-mediated activation of SMAD2/3 bymediating the internalization of TGFBR1 from membrane raftsleading to its subsequent degradation (PubMed:25893292). Mediatesthe recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae(PubMed:19262564). {ECO:0000250|UniProtKB:P49817,ECO:0000269|PubMed:11751885, ECO:0000269|PubMed:17287217,ECO:0000269|PubMed:19262564, ECO:0000269|PubMed:25893292}. | Binds to activated CDC42 and RAC1 but does not seem tostimulate their GTPase activity. Associates with calmodulin. |
| 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 CAV1_IQGAP2 |
| 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 CAV1_IQGAP2 |
| 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 CAV1_IQGAP2 |
| 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 CAV1_IQGAP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CAV1 | C1458155 | Mammary Neoplasms | 4 | CTD_human |
| Hgene | CAV1 | C0004238 | Atrial Fibrillation | 2 | CTD_human |
| Hgene | CAV1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Hgene | CAV1 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Hgene | CAV1 | C0017612 | Glaucoma, Open-Angle | 1 | CTD_human |
| Hgene | CAV1 | C0018800 | Cardiomegaly | 1 | CTD_human |
| Hgene | CAV1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | CAV1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | CAV1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | CAV1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | CAV1 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
| Hgene | CAV1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | CAV1 | C0043094 | Weight Gain | 1 | CTD_human |
| Hgene | CAV1 | C0271694 | Familial partial lipodystrophy | 1 | CTD_human |
| Hgene | CAV1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | IQGAP2 | C2239176 | Liver carcinoma | 1 | CTD_human |
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