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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for DPYD |
 Gene summary |
| Gene information | Gene symbol | DPYD | Gene ID | 1806 |
| Gene name | dihydropyrimidine dehydrogenase | |
| Synonyms | DHP|DHPDHASE|DPD | |
| Cytomap | 1p21.3 | |
| Type of gene | protein-coding | |
| Description | dihydropyrimidine dehydrogenase [NADP(+)]dihydrothymine dehydrogenasedihydrouracil dehydrogenase | |
| Modification date | 20180523 | |
| UniProtAcc | Q12882 | |
| Context | PubMed: DPYD [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| DPYD | GO:0006210 | thymine catabolic process | 10410956 |
| DPYD | GO:0006212 | uracil catabolic process | 1512248|18075467 |
| DPYD | GO:0006214 | thymidine catabolic process | 1512248 |
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Exon skipping events across known transcript of Ensembl for DPYD from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for DPYD |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for DPYD |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28653 | 1 | 97543298:97544702:97547885:97548026:97564044:97564188 | 97547885:97548026 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28657 | 1 | 97564044:97564188:97658624:97658804:97700407:97700550 | 97658624:97658804 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28658 | 1 | 97658624:97658804:97700407:97700550:97770814:97770934 | 97700407:97700550 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28660 | 1 | 97700407:97700550:97770814:97770934:97771732:97771853 | 97770814:97770934 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28662 | 1 | 97771732:97771853:97839116:97839200:97847948:97848017 | 97839116:97839200 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28665 | 1 | 97839116:97839200:97847948:97848017:97915614:97915779 | 97847948:97848017 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28666 | 1 | 97847948:97848017:97915614:97915779:97981281:97981497 | 97915614:97915779 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28667 | 1 | 97915614:97915779:97981281:97981497:98015115:98015204 | 97981281:97981497 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28669 | 1 | 97981281:97981497:98015115:98015300:98039315:98039526 | 98015115:98015300 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28670 | 1 | 98039315:98039526:98058773:98058943:98060614:98060722 | 98058773:98058943 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28673 | 1 | 98157276:98157354:98164906:98165103:98187065:98187210 | 98164906:98165103 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28674 | 1 | 98164906:98165103:98165745:98165858:98187065:98187210 | 98165745:98165858 | ENSG00000188641.8 | ENST00000423006.2 |
| exon_skip_28675 | 1 | 98164906:98165103:98186380:98186482:98187065:98187136 | 98186380:98186482 | ENSG00000188641.8 | ENST00000474241.1 |
| exon_skip_28676 | 1 | 98205947:98206035:98293669:98293752:98348819:98348930 | 98293669:98293752 | ENSG00000188641.8 | ENST00000370192.3,ENST00000306031.5 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENSG00000188641.8 | ENST00000306031.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DPYD |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28653 | 1 | 97543298:97544702:97547885:97548026:97564044:97564188 | 97547885:97548026 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28657 | 1 | 97564044:97564188:97658624:97658804:97700407:97700550 | 97658624:97658804 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28658 | 1 | 97658624:97658804:97700407:97700550:97770814:97770934 | 97700407:97700550 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28660 | 1 | 97700407:97700550:97770814:97770934:97771732:97771853 | 97770814:97770934 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28662 | 1 | 97771732:97771853:97839116:97839200:97847948:97848017 | 97839116:97839200 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28665 | 1 | 97839116:97839200:97847948:97848017:97915614:97915779 | 97847948:97848017 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28666 | 1 | 97847948:97848017:97915614:97915779:97981281:97981497 | 97915614:97915779 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28667 | 1 | 97915614:97915779:97981281:97981497:98015115:98015204 | 97981281:97981497 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28669 | 1 | 97981281:97981497:98015115:98015300:98039315:98039526 | 98015115:98015300 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28670 | 1 | 98039315:98039526:98058773:98058943:98060614:98060722 | 98058773:98058943 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28673 | 1 | 98157276:98157354:98164906:98165103:98187065:98187210 | 98164906:98165103 | ENSG00000188641.8 | ENST00000370192.3 |
| exon_skip_28674 | 1 | 98164906:98165103:98165745:98165858:98187065:98187210 | 98165745:98165858 | ENSG00000188641.8 | ENST00000423006.2 |
| exon_skip_28675 | 1 | 98164906:98165103:98186380:98186482:98187065:98187136 | 98186380:98186482 | ENSG00000188641.8 | ENST00000474241.1 |
| exon_skip_28676 | 1 | 98205947:98206035:98293669:98293752:98348819:98348930 | 98293669:98293752 | ENSG00000188641.8 | ENST00000370192.3,ENST00000306031.5 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENSG00000188641.8 | ENST00000306031.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for DPYD |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370192 | 97700407 | 97700550 | Frame-shift |
| ENST00000370192 | 98015115 | 98015300 | Frame-shift |
| ENST00000370192 | 98058773 | 98058943 | Frame-shift |
| ENST00000370192 | 98164906 | 98165103 | Frame-shift |
| ENST00000370192 | 98293669 | 98293752 | Frame-shift |
| ENST00000370192 | 97547885 | 97548026 | In-frame |
| ENST00000370192 | 97658624 | 97658804 | In-frame |
| ENST00000370192 | 97770814 | 97770934 | In-frame |
| ENST00000370192 | 97839116 | 97839200 | In-frame |
| ENST00000370192 | 97847948 | 97848017 | In-frame |
| ENST00000370192 | 97915614 | 97915779 | In-frame |
| ENST00000370192 | 97981281 | 97981497 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370192 | 97700407 | 97700550 | Frame-shift |
| ENST00000370192 | 98015115 | 98015300 | Frame-shift |
| ENST00000370192 | 98058773 | 98058943 | Frame-shift |
| ENST00000370192 | 98164906 | 98165103 | Frame-shift |
| ENST00000370192 | 98293669 | 98293752 | Frame-shift |
| ENST00000370192 | 97547885 | 97548026 | In-frame |
| ENST00000370192 | 97658624 | 97658804 | In-frame |
| ENST00000370192 | 97770814 | 97770934 | In-frame |
| ENST00000370192 | 97839116 | 97839200 | In-frame |
| ENST00000370192 | 97847948 | 97848017 | In-frame |
| ENST00000370192 | 97915614 | 97915779 | In-frame |
| ENST00000370192 | 97981281 | 97981497 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DPYD |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000370192 | 4429 | 1025 | 97981281 | 97981497 | 1626 | 1841 | 508 | 580 |
| ENST00000370192 | 4429 | 1025 | 97915614 | 97915779 | 1842 | 2006 | 580 | 635 |
| ENST00000370192 | 4429 | 1025 | 97847948 | 97848017 | 2007 | 2075 | 635 | 658 |
| ENST00000370192 | 4429 | 1025 | 97839116 | 97839200 | 2076 | 2159 | 658 | 686 |
| ENST00000370192 | 4429 | 1025 | 97770814 | 97770934 | 2281 | 2400 | 726 | 766 |
| ENST00000370192 | 4429 | 1025 | 97658624 | 97658804 | 2544 | 2723 | 814 | 874 |
| ENST00000370192 | 4429 | 1025 | 97547885 | 97548026 | 2868 | 3008 | 922 | 969 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000370192 | 4429 | 1025 | 97981281 | 97981497 | 1626 | 1841 | 508 | 580 |
| ENST00000370192 | 4429 | 1025 | 97915614 | 97915779 | 1842 | 2006 | 580 | 635 |
| ENST00000370192 | 4429 | 1025 | 97847948 | 97848017 | 2007 | 2075 | 635 | 658 |
| ENST00000370192 | 4429 | 1025 | 97839116 | 97839200 | 2076 | 2159 | 658 | 686 |
| ENST00000370192 | 4429 | 1025 | 97770814 | 97770934 | 2281 | 2400 | 726 | 766 |
| ENST00000370192 | 4429 | 1025 | 97658624 | 97658804 | 2544 | 2723 | 814 | 874 |
| ENST00000370192 | 4429 | 1025 | 97547885 | 97548026 | 2868 | 3008 | 922 | 969 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for DPYD |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_28653 | 97547886 | 97548026 | 97548012 | 97548012 | Frame_Shift_Del | T | - | p.K927fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_28658 | 97700408 | 97700550 | 97700526 | 97700526 | Frame_Shift_Del | A | - | p.L775fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_28660 | 97770815 | 97770934 | 97770859 | 97770859 | Frame_Shift_Del | G | - | p.P752fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_28669 | 98015116 | 98015300 | 98015167 | 98015167 | Frame_Shift_Del | T | - | p.E491fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_28673 | 98164907 | 98165103 | 98165051 | 98165051 | Frame_Shift_Del | G | - | p.P179fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_28673 | 98164907 | 98165103 | 98165057 | 98165057 | Frame_Shift_Del | G | - | p.P179fs |
| ACC | TCGA-PK-A5HB-01 | exon_skip_28673 | 98164907 | 98165103 | 98165042 | 98165043 | Frame_Shift_Ins | - | T | p.M182fs |
| STAD | TCGA-CG-5728-01 | exon_skip_28673 | 98164907 | 98165103 | 98165042 | 98165043 | Frame_Shift_Ins | - | T | p.M182fs |
| STAD | TCGA-CG-5728-01 | exon_skip_28673 | 98164907 | 98165103 | 98165043 | 98165044 | Frame_Shift_Ins | - | T | p.M182fs |
| STAD | TCGA-BR-8680-01 | exon_skip_28660 | 97770815 | 97770934 | 97770839 | 97770839 | Nonsense_Mutation | G | A | p.R759* |
| STAD | TCGA-BR-8680-01 | exon_skip_28660 | 97770815 | 97770934 | 97770839 | 97770839 | Nonsense_Mutation | G | A | p.R759X |
| BLCA | TCGA-CF-A47X-01 | exon_skip_28662 | 97839117 | 97839200 | 97839179 | 97839179 | Nonsense_Mutation | C | A | p.E666* |
| LUAD | TCGA-05-5423-01 | exon_skip_28662 | 97839117 | 97839200 | 97839179 | 97839179 | Nonsense_Mutation | C | A | p.E666* |
| SKCM | TCGA-GN-A4U4-06 | exon_skip_28666 | 97915615 | 97915779 | 97915658 | 97915658 | Nonsense_Mutation | C | T | p.W621* |
| LUAD | TCGA-50-5933-01 | exon_skip_28667 | 97981282 | 97981497 | 97981341 | 97981341 | Nonsense_Mutation | G | A | p.R561* |
| KIRP | TCGA-G7-6795-01 | exon_skip_28670 | 98058774 | 98058943 | 98058809 | 98058809 | Nonsense_Mutation | T | A | p.K365* |
| KIRP | TCGA-G7-6795-01 | exon_skip_28670 | 98058774 | 98058943 | 98058809 | 98058809 | Nonsense_Mutation | T | A | p.K365X |
| SKCM | TCGA-EE-A2GO-06 | exon_skip_28673 | 98164907 | 98165103 | 98164965 | 98164965 | Nonsense_Mutation | G | A | p.R208* |
| SARC | TCGA-DX-AB32-01 | exon_skip_28676 | 98293670 | 98293752 | 98293695 | 98293695 | Nonsense_Mutation | G | A | p.R70* |
| SARC | TCGA-DX-AB2E-01 | exon_skip_28653 | 97547886 | 97548026 | 97548028 | 97548028 | Splice_Site | T | A | e22-2 |
| ESCA | TCGA-LN-A49W-01 | exon_skip_28657 | 97658625 | 97658804 | 97658623 | 97658623 | Splice_Site | A | C | . |
| ESCA | TCGA-LN-A49W-01 | exon_skip_28657 | 97658625 | 97658804 | 97658623 | 97658623 | Splice_Site | A | C | e20+2 |
| SKCM | TCGA-BF-A3DM-01 | exon_skip_28667 | 97981282 | 97981497 | 97981281 | 97981281 | Splice_Site | C | T | . |
| STAD | TCGA-FP-A4BE-01 | exon_skip_28667 | 97981282 | 97981497 | 97981499 | 97981499 | Splice_Site | T | C | p.S509_splice |
| OV | TCGA-13-1507-01 | exon_skip_28669 | 98015116 | 98015300 | 98015114 | 98015114 | Splice_Site | A | T | e12+2 |
| UCEC | TCGA-AP-A056-01 | exon_skip_28675 | 98186381 | 98186482 | 98186483 | 98186483 | Splice_Site | C | A | e6-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SNU61_LARGE_INTESTINE | 97847949 | 97848017 | 97847985 | 97847985 | Frame_Shift_Del | A | - | p.N646fs |
| TC205_BONE | 97547886 | 97548026 | 97547912 | 97547912 | Missense_Mutation | T | C | p.M961V |
| NCIH1793_LUNG | 97547886 | 97548026 | 97547914 | 97547914 | Missense_Mutation | T | C | p.Y960C |
| RL952_ENDOMETRIUM | 97547886 | 97548026 | 97547992 | 97547992 | Missense_Mutation | G | T | p.T934K |
| CAKI1_KIDNEY | 97658625 | 97658804 | 97658628 | 97658628 | Missense_Mutation | G | C | p.D873E |
| SW684_SOFT_TISSUE | 97658625 | 97658804 | 97658630 | 97658630 | Missense_Mutation | C | T | p.D873N |
| EKVX_LUNG | 97658625 | 97658804 | 97658641 | 97658641 | Missense_Mutation | G | T | p.A869D |
| M980513_SKIN | 97658625 | 97658804 | 97658749 | 97658749 | Missense_Mutation | C | A | p.G833V |
| SW620_LARGE_INTESTINE | 97658625 | 97658804 | 97658795 | 97658795 | Missense_Mutation | C | A | p.A818S |
| WM88_SKIN | 97700408 | 97700550 | 97700418 | 97700418 | Missense_Mutation | G | A | p.S811F |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97700408 | 97700550 | 97700419 | 97700419 | Missense_Mutation | A | G | p.S811P |
| IPC298_SKIN | 97700408 | 97700550 | 97700433 | 97700433 | Missense_Mutation | A | C | p.L806R |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97700408 | 97700550 | 97700437 | 97700437 | Missense_Mutation | A | G | p.F805L |
| M00921_SKIN | 97700408 | 97700550 | 97700503 | 97700503 | Missense_Mutation | G | A | p.R783C |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97700408 | 97700550 | 97700520 | 97700521 | Missense_Mutation | GC | TA | p.A777Y |
| BICR22_UPPER_AERODIGESTIVE_TRACT | 97700408 | 97700550 | 97700540 | 97700540 | Missense_Mutation | G | C | p.I770M |
| HEC59_ENDOMETRIUM | 97770815 | 97770934 | 97770838 | 97770838 | Missense_Mutation | C | T | p.R759Q |
| MET2B | 97770815 | 97770934 | 97770838 | 97770838 | Missense_Mutation | C | T | p.R759Q |
| HCC827GR5_LUNG | 97839117 | 97839200 | 97839134 | 97839134 | Missense_Mutation | C | A | p.G681C |
| HCC827_LUNG | 97839117 | 97839200 | 97839134 | 97839134 | Missense_Mutation | C | A | p.G681C |
| A498_KIDNEY | 97839117 | 97839200 | 97839142 | 97839142 | Missense_Mutation | C | T | p.R678K |
| HCC1954_BREAST | 97839117 | 97839200 | 97839164 | 97839164 | Missense_Mutation | A | C | p.C671G |
| T84_LARGE_INTESTINE | 97839117 | 97839200 | 97839177 | 97839177 | Missense_Mutation | C | G | p.E666D |
| SBC1_LUNG | 97847949 | 97848017 | 97847971 | 97847971 | Missense_Mutation | G | A | p.T651M |
| MDAMB453_BREAST | 97847949 | 97848017 | 97847978 | 97847978 | Missense_Mutation | C | T | p.D649N |
| OVCA420_OVARY | 97847949 | 97848017 | 97847995 | 97847995 | Missense_Mutation | C | T | p.C643Y |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97981282 | 97981497 | 97981479 | 97981479 | Missense_Mutation | C | T | p.V515I |
| HEC1_ENDOMETRIUM | 97981282 | 97981497 | 97981479 | 97981479 | Missense_Mutation | C | T | p.V515I |
| HCET_UPPER_AERODIGESTIVE_TRACT | 97981282 | 97981497 | 97981479 | 97981479 | Missense_Mutation | C | T | p.V515I |
| L33_PANCREAS | 97981282 | 97981497 | 97981485 | 97981485 | Missense_Mutation | C | A | p.A513S |
| SW684_SOFT_TISSUE | 98015116 | 98015300 | 98015153 | 98015153 | Missense_Mutation | C | T | p.G496E |
| HEC1_ENDOMETRIUM | 98015116 | 98015300 | 98015172 | 98015172 | Missense_Mutation | C | T | p.V490M |
| HCC78_LUNG | 98015116 | 98015300 | 98015223 | 98015223 | Missense_Mutation | C | T | p.E473K |
| COLO783_SKIN | 98015116 | 98015300 | 98015287 | 98015287 | Missense_Mutation | C | A | p.L451F |
| NCIH2081_LUNG | 98058774 | 98058943 | 98058857 | 98058857 | Missense_Mutation | T | C | p.T349A |
| FLO1_OESOPHAGUS | 98058774 | 98058943 | 98058877 | 98058877 | Missense_Mutation | T | G | p.D342A |
| LI7_LIVER | 98058774 | 98058943 | 98058899 | 98058899 | Missense_Mutation | C | T | p.V335M |
| HS739T_FIBROBLAST | 98058774 | 98058943 | 98058899 | 98058899 | Missense_Mutation | C | T | p.V335M |
| RMUGS_OVARY | 98058774 | 98058943 | 98058908 | 98058908 | Missense_Mutation | G | A | p.R332W |
| MM415_SKIN | 98058774 | 98058943 | 98058913 | 98058913 | Missense_Mutation | G | A | p.S330L |
| NCIH2170_LUNG | 98164907 | 98165103 | 98164916 | 98164916 | Missense_Mutation | C | A | p.G224V |
| MM370_SKIN | 98164907 | 98165103 | 98164935 | 98164935 | Missense_Mutation | C | T | p.E218K |
| SNU216_STOMACH | 98164907 | 98165103 | 98165072 | 98165072 | Missense_Mutation | C | A | p.R172I |
| NCIH513_PLEURA | 98164907 | 98165103 | 98165077 | 98165077 | Missense_Mutation | C | A | p.Q170H |
| RH28_SOFT_TISSUE | 98165746 | 98165858 | 98165851 | 98165851 | Missense_Mutation | C | T | p.G127D |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 98293670 | 98293752 | 98293674 | 98293674 | Missense_Mutation | T | C | p.M77V |
| SNU245_BILIARY_TRACT | 98293670 | 98293752 | 98293674 | 98293674 | Missense_Mutation | T | C | p.M77V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98293670 | 98293752 | 98293674 | 98293674 | Missense_Mutation | T | C | p.M77V |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98293670 | 98293752 | 98293674 | 98293674 | Missense_Mutation | T | C | p.M77V |
| HS746T_STOMACH | 98293670 | 98293752 | 98293716 | 98293716 | Missense_Mutation | T | C | p.K63E |
| SNU466_CENTRAL_NERVOUS_SYSTEM | 98293670 | 98293752 | 98293722 | 98293722 | Missense_Mutation | C | T | p.D61N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 98293670 | 98293752 | 98293733 | 98293733 | Missense_Mutation | T | C | p.N57S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98293670 | 98293752 | 98293733 | 98293733 | Missense_Mutation | T | C | p.N57S |
| JHUEM7_ENDOMETRIUM | 98293670 | 98293752 | 98293735 | 98293735 | Missense_Mutation | C | A | p.E56D |
| NCIH835_LUNG | 98348820 | 98348930 | 98348837 | 98348837 | Missense_Mutation | G | A | p.P45S |
| HCC515_LUNG | 97981282 | 97981497 | 97981407 | 97981407 | Nonsense_Mutation | C | A | p.G539* |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98015116 | 98015300 | 98015232 | 98015232 | Nonsense_Mutation | G | A | p.Q470* |
| HCT15_LARGE_INTESTINE | 97658625 | 97658804 | 97658803 | 97658803 | Splice_Site | A | T | p.V815E |
| NCIH187_LUNG | 97915615 | 97915779 | 97915616 | 97915616 | Splice_Site | T | A | p.N635I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DPYD |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENST00000306031.5 | GBM | rs1801265 | chr1:98348885 | G/A | 1.14e-04 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENST00000306031.5 | HNSC | rs1801265 | chr1:98348885 | G/A | 9.63e-04 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENST00000306031.5 | BRCA | rs1801265 | chr1:98348885 | G/A | 3.80e-08 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENST00000306031.5 | KIRC | rs1801265 | chr1:98348885 | G/A | 1.98e-10 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENST00000306031.5 | LUAD | rs1801265 | chr1:98348885 | G/A | 5.62e-06 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENST00000306031.5 | LUSC | rs1801265 | chr1:98348885 | G/A | 1.47e-04 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENST00000306031.5 | SARC | rs1801265 | chr1:98348885 | G/A | 1.23e-05 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENST00000306031.5 | STAD | rs1801265 | chr1:98348885 | G/A | 3.11e-04 |
| exon_skip_28677 | 1 | 98293669:98293752:98348819:98348930:98386439:98386553 | 98348819:98348930 | ENST00000306031.5 | THCA | rs1801265 | chr1:98348885 | G/A | 2.88e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DPYD |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DPYD |
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RelatedDrugs for DPYD |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DPYD |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DPYD | C0009404 | Colorectal Neoplasms | 5 | CTD_human |
| DPYD | C1959620 | Dihydropyrimidine Dehydrogenase Deficiency | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
| DPYD | C0038356 | Stomach Neoplasms | 3 | CTD_human |
| DPYD | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| DPYD | C0034139 | Purine-Pyrimidine Metabolism, Inborn Errors | 2 | CTD_human |
| DPYD | C0036341 | Schizophrenia | 2 | CTD_human |
| DPYD | C1510586 | Autism Spectrum Disorders | 2 | CTD_human;HPO |
| DPYD | C0004352 | Autistic Disorder | 1 | CTD_human;HPO |
| DPYD | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| DPYD | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
| DPYD | C0023014 | Language Development Disorders | 1 | CTD_human |
| DPYD | C0024121 | Lung Neoplasms | 1 | CTD_human |
| DPYD | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| DPYD | C0027765 | nervous system disorder | 1 | CTD_human |
| DPYD | C0027947 | Neutropenia | 1 | CTD_human |
| DPYD | C0028754 | Obesity | 1 | CTD_human;HPO |
| DPYD | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| DPYD | C0270612 | Leukoencephalopathies | 1 | CTD_human |
| DPYD | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| DPYD | C2239176 | Liver carcinoma | 1 | CTD_human |
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