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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 DPPA4 |
 Gene summary |
| Gene information | Gene symbol | DPPA4 | Gene ID | 55211 |
| Gene name | developmental pluripotency associated 4 | |
| Synonyms | 2410091M23Rik | |
| Cytomap | 3q13.13 | |
| Type of gene | protein-coding | |
| Description | developmental pluripotency-associated protein 4 | |
| Modification date | 20180522 | |
| UniProtAcc | Q7L190 | |
| Context | PubMed: DPPA4 [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 DPPA4 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 DPPA4 |
| 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 DPPA4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_386454 | 3 | 109046371:109046871:109047736:109047928:109050580:109050631 | 109047736:109047928 | ENSG00000121570.8 | ENST00000463966.1 |
| exon_skip_386455 | 3 | 109046371:109046871:109047736:109047935:109049370:109049659 | 109047736:109047935 | ENSG00000121570.8 | ENST00000335658.6 |
| exon_skip_386462 | 3 | 109047864:109047935:109049370:109049659:109050580:109050631 | 109049370:109049659 | ENSG00000121570.8 | ENST00000495679.1,ENST00000487299.1,ENST00000335658.6 |
| exon_skip_386466 | 3 | 109050793:109050878:109052716:109052767:109056310:109056362 | 109052716:109052767 | ENSG00000121570.8 | ENST00000495679.1 |
| exon_skip_386467 | 3 | 109050793:109050878:109052716:109052840:109056310:109056362 | 109052716:109052840 | ENSG00000121570.8 | ENST00000478791.1,ENST00000463966.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DPPA4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| 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 DPPA4 |
| 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 |
| ENST00000335658 | 109047736 | 109047935 | Frame-shift |
| ENST00000335658 | 109049370 | 109049659 | 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 |
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Infer the effects of exon skipping event on protein functional features for DPPA4 |
| 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 DPPA4 |
| - 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-A1EG-01 | exon_skip_386454 | 109047737 | 109047928 | 109047751 | 109047751 | Frame_Shift_Del | G | - | p.P288fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_386455 | 109047737 | 109047935 | 109047751 | 109047751 | Frame_Shift_Del | G | - | p.P288fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_386454 | 109047737 | 109047928 | 109047779 | 109047779 | Frame_Shift_Del | G | - | p.P279fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_386455 | 109047737 | 109047935 | 109047779 | 109047779 | Frame_Shift_Del | G | - | p.P279fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_386454 | 109047737 | 109047928 | 109047779 | 109047779 | Frame_Shift_Del | G | - | p.P279fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_386455 | 109047737 | 109047935 | 109047779 | 109047779 | Frame_Shift_Del | G | - | p.P279fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_386454 | 109047737 | 109047928 | 109047836 | 109047836 | Frame_Shift_Del | T | - | p.K260fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_386455 | 109047737 | 109047935 | 109047836 | 109047836 | Frame_Shift_Del | T | - | p.K260fs |
| BLCA | TCGA-GD-A3OQ-01 | exon_skip_386462 | 109049371 | 109049659 | 109049606 | 109049606 | Frame_Shift_Del | T | - | p.K148fs |
| STAD | TCGA-BR-8487-01 | exon_skip_386462 | 109049371 | 109049659 | 109049606 | 109049606 | Frame_Shift_Del | T | - | p.L149X |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_386467 | 109052717 | 109052840 | 109052773 | 109052773 | Frame_Shift_Del | A | - | p.L41fs |
| HNSC | TCGA-BA-6869-01 | exon_skip_386454 | 109047737 | 109047928 | 109047837 | 109047837 | Nonsense_Mutation | T | A | p.K260* |
| HNSC | TCGA-BA-6869-01 | exon_skip_386455 | 109047737 | 109047935 | 109047837 | 109047837 | Nonsense_Mutation | T | A | p.K260* |
| LUSC | TCGA-34-5234-01 | exon_skip_386462 | 109049371 | 109049659 | 109049432 | 109049432 | Nonsense_Mutation | C | T | p.W206* |
| HNSC | TCGA-CV-7242-01 | exon_skip_386462 | 109049371 | 109049659 | 109049491 | 109049491 | Nonsense_Mutation | C | A | p.E187* |
| LUSC | TCGA-43-6143-01 | exon_skip_386462 | 109049371 | 109049659 | 109049619 | 109049619 | Nonsense_Mutation | G | C | p.S144* |
| SKCM | TCGA-EE-A2GP-06 | exon_skip_386462 | 109049371 | 109049659 | 109049623 | 109049623 | Nonsense_Mutation | T | A | p.K143* |
| SKCM | TCGA-EE-A2GP-06 | exon_skip_386462 | 109049371 | 109049659 | 109049623 | 109049623 | Nonsense_Mutation | T | A | p.K143X |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_386462 | 109049371 | 109049659 | 109049638 | 109049638 | Nonsense_Mutation | C | A | p.E138* |
| LUSC | TCGA-34-2608-01 | exon_skip_386466 | 109052717 | 109052767 | 109052761 | 109052761 | Nonsense_Mutation | G | T | p.S45* |
| LUSC | TCGA-34-2608-01 | exon_skip_386467 | 109052717 | 109052840 | 109052761 | 109052761 | Nonsense_Mutation | G | T | p.S45* |
| LUSC | TCGA-22-5472-01 | exon_skip_386467 | 109052717 | 109052840 | 109052821 | 109052821 | Nonsense_Mutation | G | T | p.S25* |
| COAD | TCGA-AA-3510-01 | exon_skip_386454 | 109047737 | 109047928 | 109047735 | 109047735 | Splice_Site | A | G | . |
| COAD | TCGA-AA-3510-01 | exon_skip_386455 | 109047737 | 109047935 | 109047735 | 109047735 | Splice_Site | A | G | . |
| - 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 |
| CCK81_LARGE_INTESTINE | 109049371 | 109049659 | 109049606 | 109049606 | Frame_Shift_Del | T | - | p.K148fs |
| GP2D_LARGE_INTESTINE | 109049371 | 109049659 | 109049606 | 109049606 | Frame_Shift_Del | T | - | p.K148fs |
| GP5D_LARGE_INTESTINE | 109049371 | 109049659 | 109049606 | 109049606 | Frame_Shift_Del | T | - | p.K148fs |
| TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109049371 | 109049659 | 109049606 | 109049606 | Frame_Shift_Del | T | - | p.K148fs |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109049371 | 109049659 | 109049606 | 109049606 | Frame_Shift_Del | T | - | p.K148fs |
| HCT116_LARGE_INTESTINE | 109049371 | 109049659 | 109049605 | 109049606 | Frame_Shift_Ins | - | T | p.L149fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109049371 | 109049659 | 109049627 | 109049628 | Frame_Shift_Ins | - | A | p.I141fs |
| SNU1040_LARGE_INTESTINE | 109047737 | 109047935 | 109047752 | 109047752 | Missense_Mutation | G | A | p.P288L |
| SNU1040_LARGE_INTESTINE | 109047737 | 109047928 | 109047752 | 109047752 | Missense_Mutation | G | A | p.P288L |
| CAL54_KIDNEY | 109047737 | 109047935 | 109047753 | 109047753 | Missense_Mutation | G | T | p.P288T |
| CAL54_KIDNEY | 109047737 | 109047928 | 109047753 | 109047753 | Missense_Mutation | G | T | p.P288T |
| PLCPRF5_LIVER | 109047737 | 109047935 | 109047816 | 109047816 | Missense_Mutation | C | A | p.A267S |
| PLCPRF5_LIVER | 109047737 | 109047928 | 109047816 | 109047816 | Missense_Mutation | C | A | p.A267S |
| NCIH1435_LUNG | 109047737 | 109047935 | 109047857 | 109047857 | Missense_Mutation | C | G | p.G253A |
| NCIH1435_LUNG | 109047737 | 109047928 | 109047857 | 109047857 | Missense_Mutation | C | G | p.G253A |
| HEC251_ENDOMETRIUM | 109047737 | 109047935 | 109047903 | 109047903 | Missense_Mutation | G | T | p.L238I |
| HEC251_ENDOMETRIUM | 109047737 | 109047928 | 109047903 | 109047903 | Missense_Mutation | G | T | p.L238I |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109047737 | 109047935 | 109047911 | 109047911 | Missense_Mutation | C | A | p.G235V |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109047737 | 109047928 | 109047911 | 109047911 | Missense_Mutation | C | A | p.G235V |
| NCIH522_LUNG | 109049371 | 109049659 | 109049406 | 109049406 | Missense_Mutation | G | A | p.T215I |
| TE11_OESOPHAGUS | 109049371 | 109049659 | 109049409 | 109049409 | Missense_Mutation | C | T | p.R214K |
| HEC251_ENDOMETRIUM | 109049371 | 109049659 | 109049412 | 109049412 | Missense_Mutation | G | A | p.A213V |
| CGTHW1_THYROID | 109049371 | 109049659 | 109049475 | 109049475 | Missense_Mutation | A | C | p.V192G |
| JHH2_LIVER | 109049371 | 109049659 | 109049527 | 109049527 | Missense_Mutation | C | G | p.E175Q |
| COLO792_SKIN | 109049371 | 109049659 | 109049527 | 109049527 | Missense_Mutation | C | T | p.E175K |
| NCIH1436_LUNG | 109049371 | 109049659 | 109049530 | 109049530 | Missense_Mutation | C | A | p.G174W |
| RH36_SOFT_TISSUE | 109049371 | 109049659 | 109049532 | 109049532 | Missense_Mutation | A | T | p.V173E |
| LCLC97TM1_LUNG | 109049371 | 109049659 | 109049542 | 109049542 | Missense_Mutation | G | T | p.L170I |
| MCC13_SKIN | 109052717 | 109052840 | 109052782 | 109052782 | Missense_Mutation | G | A | p.S38L |
| HCC2998_LARGE_INTESTINE | 109052717 | 109052840 | 109052782 | 109052782 | Missense_Mutation | G | A | p.S38L |
| SNU449_LIVER | 109052717 | 109052840 | 109052800 | 109052800 | Missense_Mutation | G | C | p.A32G |
| 8505C_THYROID | 109052717 | 109052840 | 109052800 | 109052800 | Missense_Mutation | G | C | p.A32G |
| MMACSF_SKIN | 109052717 | 109052840 | 109052800 | 109052800 | Missense_Mutation | G | C | p.A32G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DPPA4 |
| 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 DPPA4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DPPA4 |
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RelatedDrugs for DPPA4 |
| 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 DPPA4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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