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Fusion gene ID: 6915 |
FusionGeneSummary for CGA_CDC42BPB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CGA_CDC42BPB | Fusion gene ID: 6915 | Hgene | Tgene | Gene symbol | CGA | CDC42BPB | Gene ID | 1113 | 9578 |
| Gene name | chromogranin A | CDC42 binding protein kinase beta | |
| Synonyms | CGA | MRCKB | |
| Cytomap | 14q32.12 | 14q32.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | chromogranin-ASP-Ibetagranin (N-terminal fragment of chromogranin A)catestatinchromofunginparathyroid secretory protein 1pituitary secretory protein I | serine/threonine-protein kinase MRCK betaCDC42 binding protein kinase beta (DMPK-like)CDC42BP-betaDMPK-like betaMRCK betamyotonic dystrophy kinase-related CDC42-binding kinase betamyotonic dystrophy protein kinase-like beta | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P01215 | Q9Y5S2 | |
| Ensembl transtripts involved in fusion gene | ENST00000369582, | ENST00000361246, | |
| Fusion gene scores | * DoF score | 8 X 8 X 1=64 | 4 X 4 X 2=32 |
| # samples | 9 | 5 | |
| ** MAII score | log2(9/64*10)=0.491853096329675 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CGA [Title/Abstract] AND CDC42BPB [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 | CGA | GO:0002551 | mast cell chemotaxis | 21214543 |
| Hgene | CGA | GO:0032762 | mast cell cytokine production | 21214543 |
| Hgene | CGA | GO:0033604 | negative regulation of catecholamine secretion | 15326220 |
| Hgene | CGA | GO:0043303 | mast cell degranulation | 21214543 |
| Hgene | CGA | GO:0045576 | mast cell activation | 21214543 |
| Hgene | CGA | GO:0050829 | defense response to Gram-negative bacterium | 15723172 |
| Hgene | CGA | GO:0050830 | defense response to Gram-positive bacterium | 15723172 |
| Tgene | CDC42BPB | GO:0006468 | protein phosphorylation | 21949762 |
| 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 | R02040 | CGA | chr6 | 87795326 | + | CDC42BPB | chr14 | 103488300 | + | ||
| ChiTaRS3.1 | R14891 | CGA | chr6 | 87795326 | + | CDC42BPB | chr14 | 103488300 | + |
| * 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-intron | ENST00000369582 | ENST00000361246 | CGA | chr6 | 87795326 | + | CDC42BPB | chr14 | 103488300 | + |
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FusionProtFeatures for CGA_CDC42BPB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CGA | CDC42BPB |
| Shared alpha chain of the active heterodimericglycoprotein hormones thyrotropin/thyroid stimulating hormone/TSH,lutropin/luteinizing hormone/LH, follitropin/follicle stimulatinghormone/FSH and choriogonadotropin/CG. These hormones bindspecific receptors on target cells that in turn activatedownstream signaling pathways. {ECO:0000269|PubMed:24692546,ECO:0000269|PubMed:2494176}. | Serine/threonine-protein kinase which is an importantdownstream effector of CDC42 and plays a role in the regulation ofcytoskeleton reorganization and cell migration. Regulates actincytoskeletal reorganization via phosphorylation of PPP1R12C andMYL9/MLC2 (PubMed:21457715, PubMed:21949762). In concert withMYO18A and LURAP1, is involved in modulating lamellar actomyosinretrograde flow that is crucial to cell protrusion and migration(PubMed:18854160). Phosphorylates PPP1R12A (PubMed:21457715). Inconcert with FAM89B/LRAP25 mediates the targeting of LIMK1 to thelamellipodium resulting in its activation and subsequentphosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity). {ECO:0000250|UniProtKB:Q7TT50,ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:21457715,ECO:0000269|PubMed:21949762}. |
| 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 CGA_CDC42BPB |
| 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 CGA_CDC42BPB |
| 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 CGA_CDC42BPB |
| 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 CGA_CDC42BPB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CGA | C0001621 | Adrenal Gland Diseases | 1 | CTD_human |
| Hgene | CGA | C0018991 | Hemiplegia | 1 | CTD_human |
| Hgene | CGA | C0028960 | Oligospermia | 1 | CTD_human |
| Hgene | CGA | C0029928 | Ovarian Diseases | 1 | CTD_human |
| Hgene | CGA | C0042131 | Uterine Diseases | 1 | CTD_human |
| Hgene | CGA | C2931367 | Thyroid cancer, follicular | 1 | CTD_human |
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