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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CCDC148-GCG (FusionGDB2 ID:HG130940TG2641)

Fusion Gene Summary for CCDC148-GCG

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC148-GCG
Fusion gene ID: hg130940tg2641
HgeneTgene
Gene symbol

CCDC148

GCG

Gene ID

130940

2641

Gene namecoiled-coil domain containing 148glucagon
Synonyms-GLP-1|GLP1|GLP2|GRPP
Cytomap('CCDC148')('GCG')

2q24.1

2q24.2

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 148glucagonglicentin-related polypeptideglucagon-like peptide 1glucagon-like peptide 2preproglucagon
Modification date2020031320200313
UniProtAcc

Q8NFR7

P01275

Ensembl transtripts involved in fusion geneENST00000283233, ENST00000409889, 
ENST00000491563, ENST00000536771, 
ENST00000409187, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 3 X 3=27
# samples 64
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/27*10)=0.567040592723894
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]

Most frequent breakpointCCDC148(159312927)-GCG(163005697), # samples:2
Anticipated loss of major functional domain due to fusion event.CCDC148-GCG seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID


check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-24-1417-01ACCDC148chr2

159312927

-GCGchr2

163004024

-
ChimerDB4OVTCGA-24-1417-01ACCDC148chr2

159312927

-GCGchr2

163005697

-
ChimerDB4OVTCGA-24-1417CCDC148chr2

159312926

-GCGchr2

163005697

-


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Fusion Gene ORF analysis for CCDC148-GCG

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000283233ENST00000375497CCDC148chr2

159312927

-GCGchr2

163005697

-
5CDS-5UTRENST00000283233ENST00000375497CCDC148chr2

159312926

-GCGchr2

163005697

-
5CDS-5UTRENST00000283233ENST00000418842CCDC148chr2

159312927

-GCGchr2

163005697

-
5CDS-5UTRENST00000283233ENST00000418842CCDC148chr2

159312926

-GCGchr2

163005697

-
5CDS-5UTRENST00000409889ENST00000375497CCDC148chr2

159312927

-GCGchr2

163005697

-
5CDS-5UTRENST00000409889ENST00000375497CCDC148chr2

159312926

-GCGchr2

163005697

-
5CDS-5UTRENST00000409889ENST00000418842CCDC148chr2

159312927

-GCGchr2

163005697

-
5CDS-5UTRENST00000409889ENST00000418842CCDC148chr2

159312926

-GCGchr2

163005697

-
5UTR-3CDSENST00000491563ENST00000375497CCDC148chr2

159312927

-GCGchr2

163004024

-
5UTR-3CDSENST00000491563ENST00000418842CCDC148chr2

159312927

-GCGchr2

163004024

-
5UTR-3CDSENST00000536771ENST00000375497CCDC148chr2

159312927

-GCGchr2

163004024

-
5UTR-3CDSENST00000536771ENST00000418842CCDC148chr2

159312927

-GCGchr2

163004024

-
5UTR-5UTRENST00000491563ENST00000375497CCDC148chr2

159312927

-GCGchr2

163005697

-
5UTR-5UTRENST00000491563ENST00000375497CCDC148chr2

159312926

-GCGchr2

163005697

-
5UTR-5UTRENST00000491563ENST00000418842CCDC148chr2

159312927

-GCGchr2

163005697

-
5UTR-5UTRENST00000491563ENST00000418842CCDC148chr2

159312926

-GCGchr2

163005697

-
5UTR-5UTRENST00000536771ENST00000375497CCDC148chr2

159312927

-GCGchr2

163005697

-
5UTR-5UTRENST00000536771ENST00000375497CCDC148chr2

159312926

-GCGchr2

163005697

-
5UTR-5UTRENST00000536771ENST00000418842CCDC148chr2

159312927

-GCGchr2

163005697

-
5UTR-5UTRENST00000536771ENST00000418842CCDC148chr2

159312926

-GCGchr2

163005697

-
Frame-shiftENST00000283233ENST00000375497CCDC148chr2

159312927

-GCGchr2

163004024

-
Frame-shiftENST00000283233ENST00000418842CCDC148chr2

159312927

-GCGchr2

163004024

-
Frame-shiftENST00000409889ENST00000375497CCDC148chr2

159312927

-GCGchr2

163004024

-
Frame-shiftENST00000409889ENST00000418842CCDC148chr2

159312927

-GCGchr2

163004024

-
intron-3CDSENST00000409187ENST00000375497CCDC148chr2

159312927

-GCGchr2

163004024

-
intron-3CDSENST00000409187ENST00000418842CCDC148chr2

159312927

-GCGchr2

163004024

-
intron-5UTRENST00000409187ENST00000375497CCDC148chr2

159312927

-GCGchr2

163005697

-
intron-5UTRENST00000409187ENST00000375497CCDC148chr2

159312926

-GCGchr2

163005697

-
intron-5UTRENST00000409187ENST00000418842CCDC148chr2

159312927

-GCGchr2

163005697

-
intron-5UTRENST00000409187ENST00000418842CCDC148chr2

159312926

-GCGchr2

163005697

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CCDC148-GCG


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for CCDC148-GCG


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:159312927/:163005697)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC148

Q8NFR7

GCG

P01275

FUNCTION: [Glucagon]: Plays a key role in glucose metabolism and homeostasis. Regulates blood glucose by increasing gluconeogenesis and decreasing glycolysis. A counterregulatory hormone of insulin, raises plasma glucose levels in response to insulin-induced hypoglycemia. Plays an important role in initiating and maintaining hyperglycemic conditions in diabetes. {ECO:0000305|PubMed:10605628, ECO:0000305|PubMed:12626323}.; FUNCTION: [Glucagon-like peptide 1]: Potent stimulator of glucose-dependent insulin release. Also stimulates insulin release in response to IL6 (PubMed:22037645). Plays important roles on gastric motility and the suppression of plasma glucagon levels. May be involved in the suppression of satiety and stimulation of glucose disposal in peripheral tissues, independent of the actions of insulin. Has growth-promoting activities on intestinal epithelium. May also regulate the hypothalamic pituitary axis (HPA) via effects on LH, TSH, CRH, oxytocin, and vasopressin secretion. Increases islet mass through stimulation of islet neogenesis and pancreatic beta cell proliferation. Inhibits beta cell apoptosis (Probable). {ECO:0000269|PubMed:22037645, ECO:0000305|PubMed:10605628, ECO:0000305|PubMed:12554744, ECO:0000305|PubMed:14719035}.; FUNCTION: [Glucagon-like peptide 2]: Stimulates intestinal growth and up-regulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. The gastrointestinal tract, from the stomach to the colon is the principal target for GLP-2 action. Plays a key role in nutrient homeostasis, enhancing nutrient assimilation through enhanced gastrointestinal function, as well as increasing nutrient disposal. Stimulates intestinal glucose transport and decreases mucosal permeability. {ECO:0000305|PubMed:10322410, ECO:0000305|PubMed:10605628, ECO:0000305|PubMed:12554744, ECO:0000305|PubMed:14719035}.; FUNCTION: [Oxyntomodulin]: Significantly reduces food intake. Inhibits gastric emptying in humans. Suppression of gastric emptying may lead to increased gastric distension, which may contribute to satiety by causing a sensation of fullness. {ECO:0000305|PubMed:10605628, ECO:0000305|PubMed:12554744}.; FUNCTION: [Glicentin]: May modulate gastric acid secretion and the gastro-pyloro-duodenal activity. May play an important role in intestinal mucosal growth in the early period of life. {ECO:0000305|PubMed:10605628, ECO:0000305|PubMed:12554744}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for CCDC148-GCG


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CCDC148-GCG


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for CCDC148-GCG


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CCDC148-GCG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0428977Bradycardia5CTD_human
TgeneC0020456Hyperglycemia2CTD_human
TgeneC0020649Hypotension2CTD_human
TgeneC1855520Hyperglycemia, Postprandial2CTD_human
TgeneC0003123Anorexia1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0007370Catalepsy1CTD_human
TgeneC0009319Colitis1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0009421Comatose1CTD_human
TgeneC0009806Constipation1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0020459Hyperinsulinism1CTD_human
TgeneC0020473Hyperlipidemia1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0020672Hypothermia, natural1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0037763Spasm1CTD_human
TgeneC0038354Stomach Diseases1CTD_human
TgeneC0039231Tachycardia1CTD_human
TgeneC0039239Sinus Tachycardia1CTD_human
TgeneC0042373Vascular Diseases1CTD_human
TgeneC0080203Tachyarrhythmia1CTD_human
TgeneC0151911Generalized Spasms1CTD_human
TgeneC0233612Waxy flexibility1CTD_human
TgeneC0235229Ciliary Body Spasm1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0237326Dyschezia1CTD_human
TgeneC0751217Hyperkinesia, Generalized1CTD_human
TgeneC0860634Psychogenic coma1CTD_human
TgeneC1257861Colonic Inertia1CTD_human
TgeneC1257963Endogenous Hyperinsulinism1CTD_human
TgeneC1257964Exogenous Hyperinsulinism1CTD_human
TgeneC1257965Compensatory Hyperinsulinemia1CTD_human
TgeneC1706412Lipidemias1CTD_human
TgeneC1879526Aberrant Crypt Foci1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC3887506Hyperkinesia1CTD_human