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Fusion gene ID: 5803 |
FusionGeneSummary for CCDC148_GCG |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CCDC148_GCG | Fusion gene ID: 5803 | Hgene | Tgene | Gene symbol | CCDC148 | GCG | Gene ID | 130940 | 2641 |
| Gene name | coiled-coil domain containing 148 | glucagon | |
| Synonyms | - | GLP-1|GLP1|GLP2|GRPP | |
| Cytomap | 2q24.1 | 2q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | coiled-coil domain-containing protein 148 | glucagonglicentin-related polypeptideglucagon-like peptide 1glucagon-like peptide 2preproglucagon | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8NFR7 | P01275 | |
| Ensembl transtripts involved in fusion gene | ENST00000283233, ENST00000409187, ENST00000536771, ENST00000409889, ENST00000491563, | ENST00000418842, ENST00000375497, | |
| Fusion gene scores | * DoF score | 4 X 2 X 3=24 | 3 X 3 X 3=27 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CCDC148 [Title/Abstract] AND GCG [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 |
| TCGA | LD | OV | TCGA-24-1417-01A | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| * 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 |
| 5CDS-5UTR | ENST00000283233 | ENST00000418842 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| 5CDS-5UTR | ENST00000283233 | ENST00000375497 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| intron-5UTR | ENST00000409187 | ENST00000418842 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| intron-5UTR | ENST00000409187 | ENST00000375497 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| 5UTR-5UTR | ENST00000536771 | ENST00000418842 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| 5UTR-5UTR | ENST00000536771 | ENST00000375497 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| 5CDS-5UTR | ENST00000409889 | ENST00000418842 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| 5CDS-5UTR | ENST00000409889 | ENST00000375497 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| 5UTR-5UTR | ENST00000491563 | ENST00000418842 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
| 5UTR-5UTR | ENST00000491563 | ENST00000375497 | CCDC148 | chr2 | 159312927 | - | GCG | chr2 | 163005697 | - |
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FusionProtFeatures for CCDC148_GCG |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CCDC148 | GCG |
| Glucagon plays a key role in glucose metabolism andhomeostasis. Regulates blood glucose by increasing gluconeogenesisand decreasing glycolysis. A counterregulatory hormone of insulin,raises plasma glucose levels in response to insulin-inducedhypoglycemia. Plays an important role in initiating andmaintaining hyperglycemic conditions in diabetes. GLP-1 is a potent stimulator of glucose-dependentinsulin release. Play important roles on gastric motility and thesuppression of plasma glucagon levels. May be involved in thesuppression of satiety and stimulation of glucose disposal inperipheral tissues, independent of the actions of insulin. Havegrowth-promoting activities on intestinal epithelium. May alsoregulate the hypothalamic pituitary axis (HPA) via effects on LH,TSH, CRH, oxytocin, and vasopressin secretion. Increases isletmass through stimulation of islet neogenesis and pancreatic betacell proliferation. Inhibits beta cell apoptosis. GLP-2 stimulates intestinal growth and up-regulatesvillus height in the small intestine, concomitant with increasedcrypt cell proliferation and decreased enterocyte apoptosis. Thegastrointestinal tract, from the stomach to the colon is theprincipal target for GLP-2 action. Plays a key role in nutrienthomeostasis, enhancing nutrient assimilation through enhancedgastrointestinal function, as well as increasing nutrientdisposal. Stimulates intestinal glucose transport and decreasesmucosal permeability. Oxyntomodulin significantly reduces food intake.Inhibits gastric emptying in humans. Suppression of gastricemptying may lead to increased gastric distension, which maycontribute to satiety by causing a sensation of fullness. Glicentin may modulate gastric acid secretion and thegastro-pyloro-duodenal activity. May play an important role inintestinal mucosal growth in the early period of life. |
| 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 CCDC148_GCG |
| 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 CCDC148_GCG |
| 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 |
| CCDC148 | SAT1, USHBP1, SCGB1D1, LTF, SCGB2A1, LACRT, TEX9, IGHA1 | GCG | GLP1R, ARRB2 |
| - 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 CCDC148_GCG |
| 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 CCDC148_GCG |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GCG | C0428977 | Bradycardia | 5 | CTD_human |
| Tgene | GCG | C0020456 | Hyperglycemia | 2 | CTD_human |
| Tgene | GCG | C0020649 | Hypotension | 2 | CTD_human |
| Tgene | GCG | C0007370 | Catalepsy | 1 | CTD_human |
| Tgene | GCG | C0009319 | Colitis | 1 | CTD_human |
| Tgene | GCG | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | GCG | C0009421 | Comatose | 1 | CTD_human |
| Tgene | GCG | C0009806 | Constipation | 1 | CTD_human |
| Tgene | GCG | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | GCG | C0018799 | Heart Diseases | 1 | CTD_human |
| Tgene | GCG | C0018801 | Heart failure | 1 | CTD_human |
| Tgene | GCG | C0020459 | Hyperinsulinism | 1 | CTD_human |
| Tgene | GCG | C0020473 | Hyperlipidemia | 1 | CTD_human |
| Tgene | GCG | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | GCG | C0020672 | Hypothermia, natural | 1 | CTD_human |
| Tgene | GCG | C0028754 | Obesity | 1 | CTD_human |
| Tgene | GCG | C0037763 | Spasm | 1 | CTD_human |
| Tgene | GCG | C0038354 | Stomach Diseases | 1 | CTD_human |
| Tgene | GCG | C0039231 | Tachycardia | 1 | CTD_human |
| Tgene | GCG | C0039239 | Sinus Tachycardia | 1 | CTD_human |
| Tgene | GCG | C0042373 | Vascular Diseases | 1 | CTD_human |
| Tgene | GCG | C0424295 | Hyperactive behavior | 1 | CTD_human |
| Tgene | GCG | C1879526 | Aberrant Crypt Foci | 1 | CTD_human |
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