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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 DEDD2 |
 Gene summary |
| Gene information | Gene symbol | DEDD2 | Gene ID | 162989 |
| Gene name | death effector domain containing 2 | |
| Synonyms | FLAME-3|FLAME3 | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | DNA-binding death effector domain-containing protein 2DED-containing protein FLAME-3FADD-like anti-apoptotic molecule 3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WXF8 | |
| Context | PubMed: DEDD2 [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 |
| DEDD2 | GO:0030262 | apoptotic nuclear changes | 11741985 |
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Exon skipping events across known transcript of Ensembl for DEDD2 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 DEDD2 |
| 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 DEDD2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_319013 | 19 | 42703944:42703981:42706140:42706224:42713851:42713992 | 42706140:42706224 | ENSG00000160570.9 | ENST00000598090.1 |
| exon_skip_319015 | 19 | 42703944:42703981:42706202:42706224:42713851:42713992 | 42706202:42706224 | ENSG00000160570.9 | ENST00000601135.1 |
| exon_skip_319016 | 19 | 42703944:42703981:42708613:42708711:42713851:42713992 | 42708613:42708711 | ENSG00000160570.9 | ENST00000602075.1,ENST00000598415.1 |
| exon_skip_319017 | 19 | 42703944:42703981:42713851:42713992:42719284:42719404 | 42713851:42713992 | ENSG00000160570.9 | ENST00000596251.1,ENST00000595337.1,ENST00000593804.1 |
| exon_skip_319021 | 19 | 42713851:42713992:42716063:42716161:42719284:42719395 | 42716063:42716161 | ENSG00000160570.9 | ENST00000602075.1 |
| exon_skip_319024 | 19 | 42713851:42713992:42719284:42719404:42721783:42721821 | 42719284:42719404 | ENSG00000160570.9 | ENST00000602201.1,ENST00000598090.1,ENST00000593804.1,ENST00000601135.1,ENST00000598415.1 |
| exon_skip_319025 | 19 | 42713851:42713992:42719284:42719404:42724225:42724275 | 42719284:42719404 | ENSG00000160570.9 | ENST00000593561.1 |
| exon_skip_319026 | 19 | 42713851:42713992:42719299:42719404:42721783:42721821 | 42719299:42719404 | ENSG00000160570.9 | ENST00000600559.1 |
| exon_skip_319031 | 19 | 42719379:42719404:42720831:42721197:42721783:42721821 | 42720831:42721197 | ENSG00000160570.9 | ENST00000596251.1,ENST00000598727.1 |
| exon_skip_319033 | 19 | 42719379:42719404:42720831:42721197:42724225:42724275 | 42720831:42721197 | ENSG00000160570.9 | ENST00000595337.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DEDD2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_319013 | 19 | 42703944:42703981:42706140:42706224:42713851:42713992 | 42706140:42706224 | ENSG00000160570.9 | ENST00000598090.1 |
| exon_skip_319015 | 19 | 42703944:42703981:42706202:42706224:42713851:42713992 | 42706202:42706224 | ENSG00000160570.9 | ENST00000601135.1 |
| exon_skip_319016 | 19 | 42703944:42703981:42708613:42708711:42713851:42713992 | 42708613:42708711 | ENSG00000160570.9 | ENST00000598415.1,ENST00000602075.1 |
| exon_skip_319017 | 19 | 42703944:42703981:42713851:42713992:42719284:42719404 | 42713851:42713992 | ENSG00000160570.9 | ENST00000595337.1,ENST00000593804.1,ENST00000596251.1 |
| exon_skip_319021 | 19 | 42713851:42713992:42716063:42716161:42719284:42719395 | 42716063:42716161 | ENSG00000160570.9 | ENST00000602075.1 |
| exon_skip_319024 | 19 | 42713851:42713992:42719284:42719404:42721783:42721821 | 42719284:42719404 | ENSG00000160570.9 | ENST00000593804.1,ENST00000601135.1,ENST00000598415.1,ENST00000598090.1,ENST00000602201.1 |
| exon_skip_319025 | 19 | 42713851:42713992:42719284:42719404:42724225:42724275 | 42719284:42719404 | ENSG00000160570.9 | ENST00000593561.1 |
| exon_skip_319026 | 19 | 42713851:42713992:42719299:42719404:42721783:42721821 | 42719299:42719404 | ENSG00000160570.9 | ENST00000600559.1 |
| exon_skip_319031 | 19 | 42719379:42719404:42720831:42721197:42721783:42721821 | 42720831:42721197 | ENSG00000160570.9 | ENST00000596251.1,ENST00000598727.1 |
| exon_skip_319033 | 19 | 42719379:42719404:42720831:42721197:42724225:42724275 | 42720831:42721197 | ENSG00000160570.9 | ENST00000595337.1 |
| 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 DEDD2 |
| 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 |
| ENST00000595337 | 42720831 | 42721197 | 3UTR-3CDS |
| ENST00000596251 | 42720831 | 42721197 | 3UTR-3CDS |
| ENST00000595337 | 42713851 | 42713992 | In-frame |
| ENST00000596251 | 42713851 | 42713992 | 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 |
| ENST00000595337 | 42720831 | 42721197 | 3UTR-3CDS |
| ENST00000596251 | 42720831 | 42721197 | 3UTR-3CDS |
| ENST00000595337 | 42713851 | 42713992 | In-frame |
| ENST00000596251 | 42713851 | 42713992 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DEDD2 |
| 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 |
| ENST00000595337 | 1911 | 326 | 42713851 | 42713992 | 537 | 677 | 149 | 196 |
| ENST00000596251 | 1200 | 326 | 42713851 | 42713992 | 572 | 712 | 149 | 196 |
| 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 |
| ENST00000595337 | 1911 | 326 | 42713851 | 42713992 | 537 | 677 | 149 | 196 |
| ENST00000596251 | 1200 | 326 | 42713851 | 42713992 | 572 | 712 | 149 | 196 |
| 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 |
| Q8WXF8 | 149 | 196 | 145 | 149 | Alternative sequence | ID=VSP_010312;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12235123,ECO:0000303|PubMed:15489334;Dbxref=PMID:12235123,PMID:15489334 |
| Q8WXF8 | 149 | 196 | 145 | 149 | Alternative sequence | ID=VSP_010312;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12235123,ECO:0000303|PubMed:15489334;Dbxref=PMID:12235123,PMID:15489334 |
| Q8WXF8 | 149 | 196 | 1 | 326 | Chain | ID=PRO_0000191277;Note=DNA-binding death effector domain-containing protein 2 |
| Q8WXF8 | 149 | 196 | 1 | 326 | Chain | ID=PRO_0000191277;Note=DNA-binding death effector domain-containing protein 2 |
| Q8WXF8 | 149 | 196 | 155 | 173 | Motif | Note=Bipartite nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WXF8 | 149 | 196 | 155 | 173 | Motif | Note=Bipartite nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8WXF8 | 149 | 196 | 145 | 149 | Alternative sequence | ID=VSP_010312;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12235123,ECO:0000303|PubMed:15489334;Dbxref=PMID:12235123,PMID:15489334 |
| Q8WXF8 | 149 | 196 | 145 | 149 | Alternative sequence | ID=VSP_010312;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12235123,ECO:0000303|PubMed:15489334;Dbxref=PMID:12235123,PMID:15489334 |
| Q8WXF8 | 149 | 196 | 1 | 326 | Chain | ID=PRO_0000191277;Note=DNA-binding death effector domain-containing protein 2 |
| Q8WXF8 | 149 | 196 | 1 | 326 | Chain | ID=PRO_0000191277;Note=DNA-binding death effector domain-containing protein 2 |
| Q8WXF8 | 149 | 196 | 155 | 173 | Motif | Note=Bipartite nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WXF8 | 149 | 196 | 155 | 173 | Motif | Note=Bipartite nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for DEDD2 |
| - 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. |
DEDD2_HNSC_exon_skip_319017_psi_boxplot.png |
DEDD2_STAD_exon_skip_319017_psi_boxplot.png |
| - 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 |
| HNSC | TCGA-CN-5369-01 | exon_skip_319017 | 42713852 | 42713992 | 42713983 | 42713983 | Frame_Shift_Del | G | - | p.P153fs |
| STAD | TCGA-CG-4306-01 | exon_skip_319017 | 42713852 | 42713992 | 42713983 | 42713983 | Frame_Shift_Del | G | - | p.P153fs |
| HNSC | TCGA-CQ-6225-01 | exon_skip_319024 exon_skip_319025 exon_skip_319026 | 42719285 | 42719404 | 42719365 | 42719374 | Frame_Shift_Del | GAAGAGCTGG | - | p.S120fs |
| HNSC | TCGA-CQ-6225-01 | exon_skip_319024 exon_skip_319025 exon_skip_319026 | 42719285 | 42719404 | 42719365 | 42719374 | Frame_Shift_Del | GAAGAGCTGG | - | p.SSSS120fs |
| HNSC | TCGA-CQ-6225-01 | 42719300 | 42719404 | 42719365 | 42719374 | Frame_Shift_Del | GAAGAGCTGG | - | p.S120fs | |
| HNSC | TCGA-CQ-6225-01 | 42719300 | 42719404 | 42719365 | 42719374 | Frame_Shift_Del | GAAGAGCTGG | - | p.SSSS120fs | |
| LIHC | TCGA-MI-A75I-01 | exon_skip_319017 | 42713852 | 42713992 | 42713936 | 42713936 | Nonsense_Mutation | T | A | p.R169* |
| LIHC | TCGA-MI-A75I-01 | exon_skip_319017 | 42713852 | 42713992 | 42713936 | 42713936 | Nonsense_Mutation | T | A | p.R169X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CQ-6225-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_319026 | |
| Skipped exon start: 42719285 | |
| Skipped exon end: 42719404 | |
| Mutation start: 42719365 | |
| Mutation end: 42719374 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GAAGAGCTGG | |
| Mutation seq: - | |
| AAchange: p.SSSS120fs | |
| Sample: TCGA-CQ-6225-01 |
| Cancer type: HNSC | |
| ESID: | |
| Skipped exon start: 42719300 | |
| Skipped exon end: 42719404 | |
| Mutation start: 42719365 | |
| Mutation end: 42719374 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GAAGAGCTGG | |
| Mutation seq: - | |
| AAchange: p.SSSS120fs | |
| Sample: TCGA-CQ-6225-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_319026 | |
| Skipped exon start: 42719285 | |
| Skipped exon end: 42719404 | |
| Mutation start: 42719365 | |
| Mutation end: 42719374 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GAAGAGCTGG | |
| Mutation seq: - | |
| AAchange: p.S120fs | |
| Sample: TCGA-CQ-6225-01 |
| Cancer type: HNSC | |
| ESID: | |
| Skipped exon start: 42719300 | |
| Skipped exon end: 42719404 | |
| Mutation start: 42719365 | |
| Mutation end: 42719374 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GAAGAGCTGG | |
| Mutation seq: - | |
| AAchange: p.S120fs | |
exon_skip_319024_HNSC_TCGA-CQ-6225-01.png | |
exon_skip_319026_HNSC_TCGA-CQ-6225-01.png | |
 | Sample: TCGA-CQ-6225-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_319026 | |
| Skipped exon start: 42719285 | |
| Skipped exon end: 42719404 | |
| Mutation start: 42719365 | |
| Mutation end: 42719374 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GAAGAGCTGG | |
| Mutation seq: - | |
| AAchange: p.SSSS120fs | |
| Sample: TCGA-CQ-6225-01 |
| Cancer type: HNSC | |
| ESID: | |
| Skipped exon start: 42719300 | |
| Skipped exon end: 42719404 | |
| Mutation start: 42719365 | |
| Mutation end: 42719374 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GAAGAGCTGG | |
| Mutation seq: - | |
| AAchange: p.SSSS120fs | |
| Sample: TCGA-CQ-6225-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_319026 | |
| Skipped exon start: 42719285 | |
| Skipped exon end: 42719404 | |
| Mutation start: 42719365 | |
| Mutation end: 42719374 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GAAGAGCTGG | |
| Mutation seq: - | |
| AAchange: p.S120fs | |
| Sample: TCGA-CQ-6225-01 |
| Cancer type: HNSC | |
| ESID: | |
| Skipped exon start: 42719300 | |
| Skipped exon end: 42719404 | |
| Mutation start: 42719365 | |
| Mutation end: 42719374 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GAAGAGCTGG | |
| Mutation seq: - | |
| AAchange: p.S120fs | |
| exon_skip_319024_HNSC_TCGA-CQ-6225-01.png | |
| exon_skip_319026_HNSC_TCGA-CQ-6225-01.png | |
 | Sample: TCGA-CG-4306-01 |
| Cancer type: STAD | |
| ESID: exon_skip_319017 | |
| Skipped exon start: 42713852 | |
| Skipped exon end: 42713992 | |
| Mutation start: 42713983 | |
| Mutation end: 42713983 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P153fs | |
exon_skip_111877_STAD_TCGA-CG-4306-01.png | |
exon_skip_299244_STAD_TCGA-CG-4306-01.png | |
exon_skip_319017_STAD_TCGA-CG-4306-01.png | |
exon_skip_330012_STAD_TCGA-CG-4306-01.png | |
exon_skip_330013_STAD_TCGA-CG-4306-01.png | |
exon_skip_373868_STAD_TCGA-CG-4306-01.png | |
exon_skip_438601_STAD_TCGA-CG-4306-01.png | |
exon_skip_438605_STAD_TCGA-CG-4306-01.png | |
| - 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 |
| SNGM_ENDOMETRIUM | 42713852 | 42713992 | 42713983 | 42713983 | Frame_Shift_Del | G | - | p.P153fs |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 42713852 | 42713992 | 42713875 | 42713875 | Missense_Mutation | G | T | p.S189Y |
| TE159T_FIBROBLAST | 42713852 | 42713992 | 42713927 | 42713927 | Missense_Mutation | G | A | p.R172W |
| SW48_LARGE_INTESTINE | 42713852 | 42713992 | 42713969 | 42713969 | Missense_Mutation | G | A | p.R158W |
| NCIH2023_LUNG | 42713852 | 42713992 | 42713974 | 42713974 | Missense_Mutation | C | T | p.R156Q |
| PCI15A_UPPER_AERODIGESTIVE_TRACT | 42713852 | 42713992 | 42713984 | 42713984 | Missense_Mutation | G | A | p.P153S |
| GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42719285 | 42719404 | 42719342 | 42719342 | Missense_Mutation | G | A | p.R131C |
| GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42719300 | 42719404 | 42719342 | 42719342 | Missense_Mutation | G | A | p.R131C |
| HT1376_URINARY_TRACT | 42719285 | 42719404 | 42719342 | 42719342 | Missense_Mutation | G | A | p.R131C |
| HT1376_URINARY_TRACT | 42719300 | 42719404 | 42719342 | 42719342 | Missense_Mutation | G | A | p.R131C |
| T47D_BREAST | 42719285 | 42719404 | 42719342 | 42719342 | Missense_Mutation | G | A | p.R131C |
| T47D_BREAST | 42719300 | 42719404 | 42719342 | 42719342 | Missense_Mutation | G | A | p.R131C |
| HCC364_LUNG | 42719285 | 42719404 | 42719342 | 42719342 | Missense_Mutation | G | A | p.R131C |
| HCC364_LUNG | 42719300 | 42719404 | 42719342 | 42719342 | Missense_Mutation | G | A | p.R131C |
| RXF393_KIDNEY | 42720832 | 42721197 | 42720858 | 42720858 | Missense_Mutation | T | C | p.H101R |
| GP2D_LARGE_INTESTINE | 42720832 | 42721197 | 42720942 | 42720942 | Missense_Mutation | T | C | p.E73G |
| GP5D_LARGE_INTESTINE | 42720832 | 42721197 | 42720942 | 42720942 | Missense_Mutation | T | C | p.E73G |
| HEC59_ENDOMETRIUM | 42720832 | 42721197 | 42721005 | 42721005 | Missense_Mutation | G | C | p.A52G |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42720832 | 42721197 | 42720833 | 42720833 | Splice_Site | T | C | p.P109P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DEDD2 |
| 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 DEDD2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DEDD2 |
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RelatedDrugs for DEDD2 |
| 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 DEDD2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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