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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 DPEP2 |
 Gene summary |
| Gene information | Gene symbol | DPEP2 | Gene ID | 64174 |
| Gene name | dipeptidase 2 | |
| Synonyms | MBD2 | |
| Cytomap | 16q22.1 | |
| Type of gene | protein-coding | |
| Description | dipeptidase 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H4A9 | |
| Context | PubMed: DPEP2 [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 |
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Exon skipping events across known transcript of Ensembl for DPEP2 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 DPEP2 |
| 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 DPEP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_145551 | 16 | 68021408:68021663:68021754:68021890:68023225:68023301 | 68021754:68021890 | ENSG00000167261.9 | ENST00000572888.1,ENST00000393847.1,ENST00000412757.2 |
| exon_skip_145555 | 16 | 68021408:68021663:68021754:68021960:68023225:68023301 | 68021754:68021960 | ENSG00000167261.9 | ENST00000575203.1 |
| exon_skip_145558 | 16 | 68023225:68023301:68023949:68024034:68024723:68024842 | 68023949:68024034 | ENSG00000167261.9 | ENST00000575203.1,ENST00000572888.1,ENST00000393847.1,ENST00000412757.2 |
| exon_skip_145561 | 16 | 68024723:68024842:68025017:68025087:68025740:68025882 | 68025017:68025087 | ENSG00000167261.9 | ENST00000575203.1 |
| exon_skip_145567 | 16 | 68024800:68024900:68025017:68025087:68034350:68034467 | 68025017:68025087 | ENSG00000167261.9 | ENST00000575510.1 |
| exon_skip_145568 | 16 | 68025017:68025087:68025740:68025882:68025966:68026096 | 68025740:68025882 | ENSG00000167261.9 | ENST00000575203.1,ENST00000572888.1,ENST00000573808.1,ENST00000393847.1,ENST00000412757.2 |
| exon_skip_145577 | 16 | 68026075:68026096:68026412:68026539:68026852:68027160 | 68026412:68026539 | ENSG00000167261.9 | ENST00000575203.1,ENST00000572888.1,ENST00000572624.1,ENST00000393847.1,ENST00000412757.2 |
| exon_skip_145587 | 16 | 68026075:68026096:68026852:68027160:68034350:68034467 | 68026852:68027160 | ENSG00000167261.9 | ENST00000268795.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DPEP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_145551 | 16 | 68021408:68021663:68021754:68021890:68023225:68023301 | 68021754:68021890 | ENSG00000167261.9 | ENST00000393847.1,ENST00000412757.2,ENST00000572888.1 |
| exon_skip_145555 | 16 | 68021408:68021663:68021754:68021960:68023225:68023301 | 68021754:68021960 | ENSG00000167261.9 | ENST00000575203.1 |
| exon_skip_145558 | 16 | 68023225:68023301:68023949:68024034:68024723:68024842 | 68023949:68024034 | ENSG00000167261.9 | ENST00000393847.1,ENST00000575203.1,ENST00000412757.2,ENST00000572888.1 |
| exon_skip_145561 | 16 | 68024723:68024842:68025017:68025087:68025740:68025882 | 68025017:68025087 | ENSG00000167261.9 | ENST00000575203.1 |
| exon_skip_145567 | 16 | 68024800:68024900:68025017:68025087:68034350:68034467 | 68025017:68025087 | ENSG00000167261.9 | ENST00000575510.1 |
| exon_skip_145568 | 16 | 68025017:68025087:68025740:68025882:68025966:68026096 | 68025740:68025882 | ENSG00000167261.9 | ENST00000393847.1,ENST00000575203.1,ENST00000412757.2,ENST00000572888.1,ENST00000573808.1 |
| exon_skip_145577 | 16 | 68026075:68026096:68026412:68026539:68026852:68027160 | 68026412:68026539 | ENSG00000167261.9 | ENST00000393847.1,ENST00000575203.1,ENST00000412757.2,ENST00000572888.1,ENST00000572624.1 |
| exon_skip_145587 | 16 | 68026075:68026096:68026852:68027160:68034350:68034467 | 68026852:68027160 | ENSG00000167261.9 | ENST00000268795.5 |
| exon_skip_145589 | 16 | 68026852:68027160:68033169:68033651:68034350:68034489 | 68033169:68033651 | ENSG00000167261.9 | ENST00000575203.1,ENST00000412757.2 |
| 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 DPEP2 |
| 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 |
| ENST00000393847 | 68021754 | 68021890 | Frame-shift |
| ENST00000572888 | 68021754 | 68021890 | Frame-shift |
| ENST00000393847 | 68023949 | 68024034 | Frame-shift |
| ENST00000572888 | 68023949 | 68024034 | Frame-shift |
| ENST00000393847 | 68025740 | 68025882 | Frame-shift |
| ENST00000572888 | 68025740 | 68025882 | Frame-shift |
| ENST00000393847 | 68026412 | 68026539 | Frame-shift |
| ENST00000572888 | 68026412 | 68026539 | Frame-shift |
| 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 |
| ENST00000393847 | 68021754 | 68021890 | Frame-shift |
| ENST00000572888 | 68021754 | 68021890 | Frame-shift |
| ENST00000393847 | 68023949 | 68024034 | Frame-shift |
| ENST00000572888 | 68023949 | 68024034 | Frame-shift |
| ENST00000393847 | 68025740 | 68025882 | Frame-shift |
| ENST00000572888 | 68025740 | 68025882 | Frame-shift |
| ENST00000393847 | 68026412 | 68026539 | Frame-shift |
| ENST00000572888 | 68026412 | 68026539 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for DPEP2 |
| 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 |
| 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 |
| 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 DPEP2 |
| - 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 |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_145561 exon_skip_145567 | 68025018 | 68025087 | 68025049 | 68025053 | Frame_Shift_Del | TTGTA | - | p.Y233fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_145577 | 68026413 | 68026539 | 68026517 | 68026517 | Frame_Shift_Del | G | - | p.L96fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_145587 | 68026853 | 68027160 | 68026969 | 68026969 | Frame_Shift_Del | G | - | p.P49fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_145587 | 68026853 | 68027160 | 68026996 | 68026996 | Frame_Shift_Del | G | - | p.P40fs |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_145561 exon_skip_145567 | 68025018 | 68025087 | 68025031 | 68025032 | Frame_Shift_Ins | - | TCGT | p.T240fs |
| COAD | TCGA-AA-3713-01 | exon_skip_145587 | 68026853 | 68027160 | 68026995 | 68026996 | Frame_Shift_Ins | - | G | p.R41fs |
| COAD | TCGA-AD-6895-01 | exon_skip_145587 | 68026853 | 68027160 | 68026995 | 68026996 | Frame_Shift_Ins | - | G | p.R41fs |
| LUAD | TCGA-17-Z017-01 | exon_skip_145587 | 68026853 | 68027160 | 68026995 | 68026996 | Frame_Shift_Ins | - | G | p.S41fs |
| HNSC | TCGA-CN-5366-01 | exon_skip_145551 | 68021755 | 68021890 | 68021883 | 68021883 | Nonsense_Mutation | G | A | p.Q360* |
| HNSC | TCGA-CN-5366-01 | exon_skip_145555 | 68021755 | 68021960 | 68021883 | 68021883 | Nonsense_Mutation | G | A | p.Q360* |
| - 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 |
| CW2_LARGE_INTESTINE | 68026853 | 68027160 | 68026969 | 68026969 | Frame_Shift_Del | G | - | p.P49fs |
| MEWO_SKIN | 68021755 | 68021890 | 68021760 | 68021760 | Missense_Mutation | C | T | p.E401K |
| MEWO_SKIN | 68021755 | 68021960 | 68021760 | 68021760 | Missense_Mutation | C | T | p.E401K |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68021755 | 68021890 | 68021828 | 68021828 | Missense_Mutation | C | T | p.R378H |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68021755 | 68021960 | 68021828 | 68021828 | Missense_Mutation | C | T | p.R378H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68023950 | 68024034 | 68023965 | 68023965 | Missense_Mutation | C | G | p.V327L |
| SW684_SOFT_TISSUE | 68025018 | 68025087 | 68025075 | 68025076 | Missense_Mutation | GG | AT | p.S225Y |
| CAKI1_KIDNEY | 68025018 | 68025087 | 68025076 | 68025076 | Missense_Mutation | G | T | p.S225Y |
| HUTU80_SMALL_INTESTINE | 68025741 | 68025882 | 68025768 | 68025768 | Missense_Mutation | G | C | p.T212R |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68025741 | 68025882 | 68025811 | 68025811 | Missense_Mutation | A | G | p.S198P |
| SNUC2B_LARGE_INTESTINE | 68025741 | 68025882 | 68025837 | 68025837 | Missense_Mutation | C | T | p.G189D |
| SNU398_LIVER | 68026413 | 68026539 | 68026475 | 68026475 | Missense_Mutation | G | A | p.R110C |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68026413 | 68026539 | 68026477 | 68026477 | Missense_Mutation | A | T | p.L109Q |
| NCIH650_LUNG | 68026853 | 68027160 | 68026886 | 68026886 | Missense_Mutation | C | A | p.R77L |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 68026853 | 68027160 | 68026949 | 68026949 | Missense_Mutation | C | T | p.G56D |
| KM12_LARGE_INTESTINE | 68026853 | 68027160 | 68026962 | 68026962 | Missense_Mutation | G | T | p.H52N |
| NCIH2804_PLEURA | 68026853 | 68027160 | 68027088 | 68027088 | Missense_Mutation | C | T | p.G10S |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68026853 | 68027160 | 68026942 | 68026942 | Nonsense_Mutation | G | C | p.Y58* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DPEP2 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DPEP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DPEP2 |
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RelatedDrugs for DPEP2 |
| 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 DPEP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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