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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:DPYD-SEC63 (FusionGDB2 ID:HG1806TG11231) |
Fusion Gene Summary for DPYD-SEC63 |
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Fusion gene information | Fusion gene name: DPYD-SEC63 | Fusion gene ID: hg1806tg11231 | Hgene | Tgene | Gene symbol | DPYD | SEC63 | Gene ID | 1806 | 11231 |
Gene name | dihydropyrimidine dehydrogenase | SEC63 homolog, protein translocation regulator | |
Synonyms | DHP|DHPDHASE|DPD | DNAJC23|ERdj2|PCLD2|PRO2507|SEC63L | |
Cytomap | ('DPYD')('SEC63') 1p21.3 | 6q21 | |
Type of gene | protein-coding | protein-coding | |
Description | dihydropyrimidine dehydrogenase [NADP(+)]dihydrothymine dehydrogenasedihydrouracil dehydrogenase | translocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q12882 | . | |
Ensembl transtripts involved in fusion gene | ENST00000306031, ENST00000370192, ENST00000423006, ENST00000474241, | ||
Fusion gene scores | * DoF score | 15 X 13 X 8=1560 | 38 X 14 X 15=7980 |
# samples | 18 | 39 | |
** MAII score | log2(18/1560*10)=-3.11547721741994 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/7980*10)=-4.3548427173601 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: DPYD [Title/Abstract] AND SEC63 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | DPYD(98011767)-SEC63(108204238), # samples:1 DPYD(98011767)-SEC63(108204250), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | DPYD | GO:0006210 | thymine catabolic process | 10410956 |
Hgene | DPYD | GO:0006212 | uracil catabolic process | 1512248|18075467 |
Hgene | DPYD | GO:0006214 | thymidine catabolic process | 1512248 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for DPYD-SEC63 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for DPYD-SEC63 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for DPYD-SEC63 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:98011767/:108204238) - 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. |
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Hgene | Tgene |
DPYD | . |
FUNCTION: Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil. | 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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for DPYD-SEC63 |
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Fusion Gene PPI Analysis for DPYD-SEC63 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for DPYD-SEC63 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | DPYD | Q12882 | DB03147 | Flavin adenine dinucleotide | Small molecule | Approved | |
Hgene | DPYD | Q12882 | DB09257 | Gimeracil | Inhibitor | Small molecule | Approved |
Hgene | DPYD | Q12882 | DB03247 | Flavin mononucleotide | Small molecule | Approved|Investigational | |
Hgene | DPYD | Q12882 | DB09327 | Tegafur-uracil | Antagonist | Small molecule | Approved|Investigational |
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Related Diseases for DPYD-SEC63 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DPYD | C1959620 | Dihydropyrimidine Dehydrogenase Deficiency | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | DPYD | C0009402 | Colorectal Carcinoma | 5 | CTD_human |
Hgene | DPYD | C0009404 | Colorectal Neoplasms | 5 | CTD_human |
Hgene | DPYD | C0024623 | Malignant neoplasm of stomach | 3 | CTD_human |
Hgene | DPYD | C0038356 | Stomach Neoplasms | 3 | CTD_human |
Hgene | DPYD | C1708349 | Hereditary Diffuse Gastric Cancer | 3 | CTD_human |
Hgene | DPYD | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
Hgene | DPYD | C0034139 | Purine-Pyrimidine Metabolism, Inborn Errors | 2 | CTD_human |
Hgene | DPYD | C0036341 | Schizophrenia | 2 | CTD_human |
Hgene | DPYD | C0346647 | Malignant neoplasm of pancreas | 2 | CTD_human |
Hgene | DPYD | C1510586 | Autism Spectrum Disorders | 2 | CTD_human |
Hgene | DPYD | C3495551 | Dihydropyrimidinuria | 2 | CTD_human |
Hgene | DPYD | C4304578 | 1p21.3 microdeletion syndrome | 2 | ORPHANET |
Hgene | DPYD | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | DPYD | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | DPYD | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Hgene | DPYD | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | DPYD | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
Hgene | DPYD | C0018675 | Head Neoplasms | 1 | CTD_human |
Hgene | DPYD | C0023012 | Language Delay | 1 | CTD_human |
Hgene | DPYD | C0023014 | Language Development Disorders | 1 | CTD_human |
Hgene | DPYD | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | DPYD | C0027533 | Neck Neoplasms | 1 | CTD_human |
Hgene | DPYD | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | DPYD | C0027765 | nervous system disorder | 1 | CTD_human |
Hgene | DPYD | C0027947 | Neutropenia | 1 | CTD_human |
Hgene | DPYD | C0028754 | Obesity | 1 | CTD_human |
Hgene | DPYD | C0241210 | Speech Delay | 1 | CTD_human |
Hgene | DPYD | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | DPYD | C0270612 | Leukoencephalopathy | 1 | CTD_human |
Hgene | DPYD | C0278996 | Malignant Head and Neck Neoplasm | 1 | CTD_human |
Hgene | DPYD | C0454655 | Semantic-Pragmatic Disorder | 1 | CTD_human |
Hgene | DPYD | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | DPYD | C0746787 | Cancer of Neck | 1 | CTD_human |
Hgene | DPYD | C0751177 | Cancer of Head | 1 | CTD_human |
Hgene | DPYD | C0751257 | Auditory Processing Disorder, Central | 1 | CTD_human |
Hgene | DPYD | C0887900 | Upper Aerodigestive Tract Neoplasms | 1 | CTD_human |
Hgene | DPYD | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | DPYD | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | DPYD | C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | 1 | CTD_human |
Hgene | DPYD | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | DPYD | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Hgene | DPYD | C4721453 | Peripheral Nervous System Diseases | 1 | CTD_human |
Tgene | C0158683 | Polycystic liver disease | 2 | CTD_human;ORPHANET | |
Tgene | C0022680 | Polycystic Kidney Diseases | 1 | CTD_human | |
Tgene | C1567435 | Polycystic Kidney - body part | 1 | CTD_human | |
Tgene | C4310769 | POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | 1 | GENOMICS_ENGLAND |