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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:DDHD2-PPAPDC1B (FusionGDB2 ID:21800)

Fusion Gene Summary for DDHD2-PPAPDC1B

check button Fusion gene summary
Fusion gene informationFusion gene name: DDHD2-PPAPDC1B
Fusion gene ID: 21800
HgeneTgene
Gene symbol

DDHD2

PPAPDC1B

Gene ID

23259

84513

Gene nameDDHD domain containing 2phospholipid phosphatase 5
SynonymsSAMWD1|SPG54|iPLA(1)gammaDPPL1|HTPAP|PPAPDC1B
Cytomap

8p11.23

8p11.23

Type of geneprotein-codingprotein-coding
Descriptionphospholipase DDHD2PA-PLA1 likeSAM, WWE and DDHD domain-containing protein 1intracellular phospholipase A1gammasec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1phospholipid phosphatase 5diacylglycerol pyrophosphate like 1diacylglycerol pyrophosphate phosphatase-like 1phosphatidate phosphatase PPAPDC1Bphosphatidic acid phosphatase type 2 domain containing 1Bphosphatidic acid phosphatase type 2 domain-contain
Modification date2020032220200313
UniProtAcc

O94830

.
Ensembl transtripts involved in fusion geneENST00000528888, ENST00000397166, 
ENST00000520272, ENST00000517385, 
ENST00000529845, 
ENST00000424479, 
ENST00000529359, ENST00000531823, 
ENST00000419686, ENST00000422581, 
ENST00000530588, 
Fusion gene scores* DoF score13 X 11 X 3=4291 X 1 X 1=1
# samples 131
** MAII scorelog2(13/429*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: DDHD2 [Title/Abstract] AND PPAPDC1B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPAPDC1B(38123659)-DDHD2(38117558), # samples:2
DDHD2(38103468)-PPAPDC1B(38123829), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgenePPAPDC1B

GO:0046839

phospholipid dephosphorylation

17590538


check buttonFusion gene breakpoints across DDHD2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PPAPDC1B (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4LUSCTCGA-85-7698-01ADDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-


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Fusion Gene ORF analysis for DDHD2-PPAPDC1B

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
3UTR-3CDSENST00000528888ENST00000424479DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
3UTR-3CDSENST00000528888ENST00000529359DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
3UTR-3CDSENST00000528888ENST00000531823DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
3UTR-intronENST00000528888ENST00000419686DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
3UTR-intronENST00000528888ENST00000422581DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
3UTR-intronENST00000528888ENST00000530588DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
5CDS-intronENST00000397166ENST00000419686DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
5CDS-intronENST00000397166ENST00000422581DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
5CDS-intronENST00000397166ENST00000530588DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
5CDS-intronENST00000520272ENST00000419686DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
5CDS-intronENST00000520272ENST00000422581DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
5CDS-intronENST00000520272ENST00000530588DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
In-frameENST00000397166ENST00000424479DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
In-frameENST00000397166ENST00000529359DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
In-frameENST00000397166ENST00000531823DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
In-frameENST00000520272ENST00000424479DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
In-frameENST00000520272ENST00000529359DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
In-frameENST00000520272ENST00000531823DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-3CDSENST00000517385ENST00000424479DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-3CDSENST00000517385ENST00000529359DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-3CDSENST00000517385ENST00000531823DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-3CDSENST00000529845ENST00000424479DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-3CDSENST00000529845ENST00000529359DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-3CDSENST00000529845ENST00000531823DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-intronENST00000517385ENST00000419686DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-intronENST00000517385ENST00000422581DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-intronENST00000517385ENST00000530588DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-intronENST00000529845ENST00000419686DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-intronENST00000529845ENST00000422581DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-
intron-intronENST00000529845ENST00000530588DDHD2chr8

38103468

-PPAPDC1Bchr8

38123829

-

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 DDHD2-PPAPDC1B


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.
genomic feature

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 DDHD2-PPAPDC1B


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/chr8:38123659/chr8:38117558)
- 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
DDHD2

O94830

.
FUNCTION: Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane. {ECO:0000269|PubMed:11788596, ECO:0000269|PubMed:20932832, ECO:0000269|PubMed:22922100}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneDDHD2chr8:38103468chr8:38123829ENST00000397166-81830_1123521284.3333333333333DomainWWE
HgeneDDHD2chr8:38103468chr8:38123829ENST00000520272-81830_1123521371.3333333333333DomainWWE
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147201_211154217.0RegionPhosphatase sequence motif III
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947201_211154265.0RegionPhosphatase sequence motif III
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936149_152113224.0RegionPhosphatase sequence motif II
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936201_211113224.0RegionPhosphatase sequence motif III
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147176_179154217.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147201_208154217.0Topological domainExtracellular
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147229_264154217.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947176_179154265.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947201_208154265.0Topological domainExtracellular
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947229_264154265.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936112_154113224.0Topological domainExtracellular
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936176_179113224.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936201_208113224.0Topological domainExtracellular
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936229_264113224.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147155_175154217.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147180_200154217.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147209_228154217.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947155_175154265.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947180_200154265.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947209_228154265.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936155_175113224.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936180_200113224.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936209_228113224.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDDHD2chr8:38103468chr8:38123829ENST00000397166-818385_4483521284.3333333333333DomainNote=SAM
HgeneDDHD2chr8:38103468chr8:38123829ENST00000397166-818495_7003521284.3333333333333DomainDDHD
HgeneDDHD2chr8:38103468chr8:38123829ENST00000520272-818385_4483521371.3333333333333DomainNote=SAM
HgeneDDHD2chr8:38103468chr8:38123829ENST00000520272-818495_7003521371.3333333333333DomainDDHD
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147108_116154217.0RegionPhosphatase sequence motif I
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147149_152154217.0RegionPhosphatase sequence motif II
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947108_116154265.0RegionPhosphatase sequence motif I
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947149_152154265.0RegionPhosphatase sequence motif II
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000052935936108_116113224.0RegionPhosphatase sequence motif I
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042258147112_154154217.0Topological domainExtracellular
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST00000422581471_5154217.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000004225814727_54154217.0Topological domainExtracellular
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000004225814776_90154217.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST0000042447947112_154154265.0Topological domainExtracellular
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST00000424479471_5154265.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000004244794727_54154265.0Topological domainExtracellular
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000004244794776_90154265.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST00000529359361_5113224.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000005293593627_54113224.0Topological domainExtracellular
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000005293593676_90113224.0Topological domainCytoplasmic
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000004225814755_75154217.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST00000422581476_26154217.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000004225814791_111154217.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000004244794755_75154265.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST00000424479476_26154265.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000004244794791_111154265.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000005293593655_75113224.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST00000529359366_26113224.0TransmembraneHelical
TgenePPAPDC1Bchr8:38103468chr8:38123829ENST000005293593691_111113224.0TransmembraneHelical


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Fusion Gene Sequence for DDHD2-PPAPDC1B


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 DDHD2-PPAPDC1B


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 DDHD2-PPAPDC1B


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 DDHD2-PPAPDC1B


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