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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:DPYD-COX5B (FusionGDB2 ID:HG1806TG1329)

Fusion Gene Summary for DPYD-COX5B

check button Fusion gene summary
Fusion gene informationFusion gene name: DPYD-COX5B
Fusion gene ID: hg1806tg1329
HgeneTgene
Gene symbol

DPYD

COX5B

Gene ID

1806

1329

Gene namedihydropyrimidine dehydrogenasecytochrome c oxidase subunit 5B
SynonymsDHP|DHPDHASE|DPDCOXVB
Cytomap('DPYD')('COX5B')

1p21.3

2q11.2

Type of geneprotein-codingprotein-coding
Descriptiondihydropyrimidine dehydrogenase [NADP(+)]dihydrothymine dehydrogenasedihydrouracil dehydrogenasecytochrome c oxidase subunit 5B, mitochondrialcytochrome c oxidase polypeptide VB, mitochondrialcytochrome c oxidase subunit Vbepididymis secretory sperm binding protein
Modification date2020031320200313
UniProtAcc

Q12882

P10606

Ensembl transtripts involved in fusion geneENST00000306031, ENST00000370192, 
ENST00000423006, ENST00000474241, 
Fusion gene scores* DoF score15 X 13 X 8=15605 X 5 X 4=100
# samples 186
** MAII scorelog2(18/1560*10)=-3.11547721741994
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DPYD [Title/Abstract] AND COX5B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDPYD(98320818)-COX5B(98264565), # 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
HgeneDPYD

GO:0006210

thymine catabolic process

10410956

HgeneDPYD

GO:0006212

uracil catabolic process

1512248|18075467

HgeneDPYD

GO:0006214

thymidine catabolic process

1512248



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
ChiTaRS5.0N/ABP319012DPYDchr1

98320818

-COX5Bchr2

98264565

+


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Fusion Gene ORF analysis for DPYD-COX5B

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
intron-3CDSENST00000306031ENST00000258424DPYDchr1

98320818

-COX5Bchr2

98264565

+
intron-3CDSENST00000370192ENST00000258424DPYDchr1

98320818

-COX5Bchr2

98264565

+
intron-3CDSENST00000423006ENST00000258424DPYDchr1

98320818

-COX5Bchr2

98264565

+
intron-3CDSENST00000474241ENST00000258424DPYDchr1

98320818

-COX5Bchr2

98264565

+
intron-3UTRENST00000306031ENST00000464949DPYDchr1

98320818

-COX5Bchr2

98264565

+
intron-3UTRENST00000370192ENST00000464949DPYDchr1

98320818

-COX5Bchr2

98264565

+
intron-3UTRENST00000423006ENST00000464949DPYDchr1

98320818

-COX5Bchr2

98264565

+
intron-3UTRENST00000474241ENST00000464949DPYDchr1

98320818

-COX5Bchr2

98264565

+

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 DPYD-COX5B


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 DPYD-COX5B


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/:98320818/:98264565)
- 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
DPYD

Q12882

COX5B

P10606

FUNCTION: Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.FUNCTION: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. {ECO:0000250|UniProtKB:P04037}.

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 DPYD-COX5B


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 DPYD-COX5B


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 DPYD-COX5B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDPYDQ12882DB03147Flavin adenine dinucleotideSmall moleculeApproved
HgeneDPYDQ12882DB09257GimeracilInhibitorSmall moleculeApproved
HgeneDPYDQ12882DB03247Flavin mononucleotideSmall moleculeApproved|Investigational
HgeneDPYDQ12882DB09327Tegafur-uracilAntagonistSmall moleculeApproved|Investigational
TgeneCOX5BP10606DB02659Cholic AcidSmall moleculeApproved

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Related Diseases for DPYD-COX5B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDPYDC1959620Dihydropyrimidine Dehydrogenase Deficiency7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDPYDC0009402Colorectal Carcinoma5CTD_human
HgeneDPYDC0009404Colorectal Neoplasms5CTD_human
HgeneDPYDC0024623Malignant neoplasm of stomach3CTD_human
HgeneDPYDC0038356Stomach Neoplasms3CTD_human
HgeneDPYDC1708349Hereditary Diffuse Gastric Cancer3CTD_human
HgeneDPYDC0030297Pancreatic Neoplasm2CTD_human
HgeneDPYDC0034139Purine-Pyrimidine Metabolism, Inborn Errors2CTD_human
HgeneDPYDC0036341Schizophrenia2CTD_human
HgeneDPYDC0346647Malignant neoplasm of pancreas2CTD_human
HgeneDPYDC1510586Autism Spectrum Disorders2CTD_human
HgeneDPYDC3495551Dihydropyrimidinuria2CTD_human
HgeneDPYDC43045781p21.3 microdeletion syndrome2ORPHANET
HgeneDPYDC0004352Autistic Disorder1CTD_human
HgeneDPYDC0006142Malignant neoplasm of breast1CTD_human
HgeneDPYDC0007102Malignant tumor of colon1CTD_human
HgeneDPYDC0009375Colonic Neoplasms1CTD_human
HgeneDPYDC0018671Head and Neck Neoplasms1CTD_human
HgeneDPYDC0018675Head Neoplasms1CTD_human
HgeneDPYDC0023012Language Delay1CTD_human
HgeneDPYDC0023014Language Development Disorders1CTD_human
HgeneDPYDC0024121Lung Neoplasms1CTD_human
HgeneDPYDC0027533Neck Neoplasms1CTD_human
HgeneDPYDC0027627Neoplasm Metastasis1CTD_human
HgeneDPYDC0027765nervous system disorder1CTD_human
HgeneDPYDC0027947Neutropenia1CTD_human
HgeneDPYDC0028754Obesity1CTD_human
HgeneDPYDC0241210Speech Delay1CTD_human
HgeneDPYDC0242379Malignant neoplasm of lung1CTD_human
HgeneDPYDC0270612Leukoencephalopathy1CTD_human
HgeneDPYDC0278996Malignant Head and Neck Neoplasm1CTD_human
HgeneDPYDC0454655Semantic-Pragmatic Disorder1CTD_human
HgeneDPYDC0678222Breast Carcinoma1CTD_human
HgeneDPYDC0746787Cancer of Neck1CTD_human
HgeneDPYDC0751177Cancer of Head1CTD_human
HgeneDPYDC0751257Auditory Processing Disorder, Central1CTD_human
HgeneDPYDC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
HgeneDPYDC1257931Mammary Neoplasms, Human1CTD_human
HgeneDPYDC1458155Mammary Neoplasms1CTD_human
HgeneDPYDC1858991Childhood Ataxia with Central Nervous System Hypomyelinization1CTD_human
HgeneDPYDC2239176Liver carcinoma1CTD_human
HgeneDPYDC4704874Mammary Carcinoma, Human1CTD_human
HgeneDPYDC4721453Peripheral Nervous System Diseases1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human