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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:DCDC2-GPLD1 (FusionGDB2 ID:21598)

Fusion Gene Summary for DCDC2-GPLD1

check button Fusion gene summary
Fusion gene informationFusion gene name: DCDC2-GPLD1
Fusion gene ID: 21598
HgeneTgene
Gene symbol

DCDC2

GPLD1

Gene ID

51473

2822

Gene namedoublecortin domain containing 2glycosylphosphatidylinositol specific phospholipase D1
SynonymsDCDC2A|DFNB66|NPHP19|NSC|RU2|RU2SGPIPLD|GPIPLDM|PIGPLD|PIGPLD1|PLD
Cytomap

6p22.3

6p22.3

Type of geneprotein-codingprotein-coding
Descriptiondoublecortin domain-containing protein 2phosphatidylinositol-glycan-specific phospholipase DGPI-PLDGPI-specific phospholipase DPI-G PLDglycoprotein phospholipase D
Modification date2020031320200313
UniProtAcc

Q9UHG0

P80108

Ensembl transtripts involved in fusion geneENST00000378454, ENST00000378450, 
ENST00000474784, ENST00000230036, 
Fusion gene scores* DoF score4 X 5 X 5=1001 X 2 X 2=4
# samples 62
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: DCDC2 [Title/Abstract] AND GPLD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDCDC2(24301943)-GPLD1(24429346), # samples:2
Anticipated loss of major functional domain due to fusion event.DCDC2-GPLD1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor 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
TgeneGPLD1

GO:0002430

complement receptor mediated signaling pathway

15907827|19135435

TgeneGPLD1

GO:0006507

GPI anchor release

2760042|15907827|19135435

TgeneGPLD1

GO:0008285

negative regulation of cell proliferation

19135435

TgeneGPLD1

GO:0008286

insulin receptor signaling pathway

18328347

TgeneGPLD1

GO:0009749

response to glucose

15907827

TgeneGPLD1

GO:0032869

cellular response to insulin stimulus

15907827

TgeneGPLD1

GO:0035690

cellular response to drug

17761367

TgeneGPLD1

GO:0043065

positive regulation of apoptotic process

19135435

TgeneGPLD1

GO:0051044

positive regulation of membrane protein ectodomain proteolysis

17720976

TgeneGPLD1

GO:0071277

cellular response to calcium ion

2760042

TgeneGPLD1

GO:0071467

cellular response to pH

17761367

TgeneGPLD1

GO:1900076

regulation of cellular response to insulin stimulus

18328347


check buttonFusion gene breakpoints across DCDC2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across GPLD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4LIHCTCGA-DD-A4NA-01ADCDC2chr6

24301943

-GPLD1chr6

24437517

-
ChimerDB4OVTCGA-29-1698-01ADCDC2chr6

24301943

-GPLD1chr6

24429346

-


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Fusion Gene ORF analysis for DCDC2-GPLD1

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-intronENST00000378454ENST00000474784DCDC2chr6

24301943

-GPLD1chr6

24437517

-
5CDS-intronENST00000378454ENST00000474784DCDC2chr6

24301943

-GPLD1chr6

24429346

-
Frame-shiftENST00000378454ENST00000230036DCDC2chr6

24301943

-GPLD1chr6

24437517

-
Frame-shiftENST00000378454ENST00000230036DCDC2chr6

24301943

-GPLD1chr6

24429346

-
intron-3CDSENST00000378450ENST00000230036DCDC2chr6

24301943

-GPLD1chr6

24437517

-
intron-3CDSENST00000378450ENST00000230036DCDC2chr6

24301943

-GPLD1chr6

24429346

-
intron-intronENST00000378450ENST00000474784DCDC2chr6

24301943

-GPLD1chr6

24437517

-
intron-intronENST00000378450ENST00000474784DCDC2chr6

24301943

-GPLD1chr6

24429346

-

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 DCDC2-GPLD1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for DCDC2-GPLD1


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/:24301943/:24429346)
- 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
DCDC2

Q9UHG0

GPLD1

P80108

FUNCTION: Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779). {ECO:0000250|UniProtKB:D3ZR10, ECO:0000269|PubMed:25557784, ECO:0000269|PubMed:25601850, ECO:0000269|PubMed:27319779}.FUNCTION: This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane.

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 DCDC2-GPLD1


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 DCDC2-GPLD1


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 DCDC2-GPLD1


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 DCDC2-GPLD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource