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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:BCL10-DPYD (FusionGDB2 ID:HG8915TG1806)

Fusion Gene Summary for BCL10-DPYD

check button Fusion gene summary
Fusion gene informationFusion gene name: BCL10-DPYD
Fusion gene ID: hg8915tg1806
HgeneTgene
Gene symbol

BCL10

DPYD

Gene ID

8915

1806

Gene nameBCL10 immune signaling adaptordihydropyrimidine dehydrogenase
SynonymsCARMEN|CIPER|CLAP|IMD37|c-E10|mE10DHP|DHPDHASE|DPD
Cytomap('BCL10')('DPYD')

1p22.3

1p21.3

Type of geneprotein-codingprotein-coding
DescriptionB-cell lymphoma/leukemia 10B cell CLL/lymphoma 10CARD containing molecule enhancing NF-kBCARD-containing apoptotic signaling proteinCARD-containing molecule enhancing NF-kappa-BCARD-containing proapoptotic proteinCED-3/ICH-1 prodomain homologous E10dihydropyrimidine dehydrogenase [NADP(+)]dihydrothymine dehydrogenasedihydrouracil dehydrogenase
Modification date2020031320200313
UniProtAcc.

Q12882

Ensembl transtripts involved in fusion geneENST00000370580, 
Fusion gene scores* DoF score2 X 2 X 2=812 X 12 X 7=1008
# samples 213
** MAII scorelog2(2/8*10)=1.32192809488736log2(13/1008*10)=-2.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCL10 [Title/Abstract] AND DPYD [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCL10(85741979)-DPYD(98015300), # samples:1
Anticipated loss of major functional domain due to fusion event.BCL10-DPYD seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BCL10-DPYD seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
BCL10-DPYD seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
BCL10-DPYD seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneBCL10

GO:0002224

toll-like receptor signaling pathway

16831874

HgeneBCL10

GO:0002906

negative regulation of mature B cell apoptotic process

15878976

HgeneBCL10

GO:0008219

cell death

10400625

HgeneBCL10

GO:0031398

positive regulation of protein ubiquitination

14695475

HgeneBCL10

GO:0031663

lipopolysaccharide-mediated signaling pathway

16831874

HgeneBCL10

GO:0032094

response to food

17095757

HgeneBCL10

GO:0042327

positive regulation of phosphorylation

15125833

HgeneBCL10

GO:0043065

positive regulation of apoptotic process

11821383

HgeneBCL10

GO:0045893

positive regulation of transcription, DNA-templated

15207693

HgeneBCL10

GO:0050852

T cell receptor signaling pathway

15125833

HgeneBCL10

GO:0051092

positive regulation of NF-kappaB transcription factor activity

10400625|14695475

HgeneBCL10

GO:2001238

positive regulation of extrinsic apoptotic signaling pathway

11466612

TgeneDPYD

GO:0006210

thymine catabolic process

10410956

TgeneDPYD

GO:0006212

uracil catabolic process

1512248|18075467

TgeneDPYD

GO:0006214

thymidine catabolic process

1512248



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
ChimerDB4SARCTCGA-DX-AATS-01ABCL10chr1

85741979

-DPYDchr1

98015300

-


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Fusion Gene ORF analysis for BCL10-DPYD

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-intronENST00000370580ENST00000306031BCL10chr1

85741979

-DPYDchr1

98015300

-
5CDS-intronENST00000370580ENST00000423006BCL10chr1

85741979

-DPYDchr1

98015300

-
5CDS-intronENST00000370580ENST00000474241BCL10chr1

85741979

-DPYDchr1

98015300

-
Frame-shiftENST00000370580ENST00000370192BCL10chr1

85741979

-DPYDchr1

98015300

-

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 BCL10-DPYD


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 BCL10-DPYD


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/:85741979/:98015300)
- 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

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}.FUNCTION: Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.

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 BCL10-DPYD


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 BCL10-DPYD


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 BCL10-DPYD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneDPYDQ12882DB03147Flavin adenine dinucleotideSmall moleculeApproved
TgeneDPYDQ12882DB09257GimeracilInhibitorSmall moleculeApproved
TgeneDPYDQ12882DB03247Flavin mononucleotideSmall moleculeApproved|Investigational
TgeneDPYDQ12882DB09327Tegafur-uracilAntagonistSmall moleculeApproved|Investigational

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Related Diseases for BCL10-DPYD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCL10C0242647Mucosa-Associated Lymphoid Tissue Lymphoma2CGI;CTD_human;ORPHANET
HgeneBCL10C4015195IMMUNODEFICIENCY 371CTD_human;GENOMICS_ENGLAND
TgeneC1959620Dihydropyrimidine Dehydrogenase Deficiency7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0009402Colorectal Carcinoma5CTD_human
TgeneC0009404Colorectal Neoplasms5CTD_human
TgeneC0024623Malignant neoplasm of stomach3CTD_human
TgeneC0038356Stomach Neoplasms3CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer3CTD_human
TgeneC0030297Pancreatic Neoplasm2CTD_human
TgeneC0034139Purine-Pyrimidine Metabolism, Inborn Errors2CTD_human
TgeneC0036341Schizophrenia2CTD_human
TgeneC0346647Malignant neoplasm of pancreas2CTD_human
TgeneC1510586Autism Spectrum Disorders2CTD_human
TgeneC3495551Dihydropyrimidinuria2CTD_human
TgeneC43045781p21.3 microdeletion syndrome2ORPHANET
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0018671Head and Neck Neoplasms1CTD_human
TgeneC0018675Head Neoplasms1CTD_human
TgeneC0023012Language Delay1CTD_human
TgeneC0023014Language Development Disorders1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0027533Neck Neoplasms1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027765nervous system disorder1CTD_human
TgeneC0027947Neutropenia1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0241210Speech Delay1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0270612Leukoencephalopathy1CTD_human
TgeneC0278996Malignant Head and Neck Neoplasm1CTD_human
TgeneC0454655Semantic-Pragmatic Disorder1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0746787Cancer of Neck1CTD_human
TgeneC0751177Cancer of Head1CTD_human
TgeneC0751257Auditory Processing Disorder, Central1CTD_human
TgeneC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1858991Childhood Ataxia with Central Nervous System Hypomyelinization1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human