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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 RIPK3 |
Gene summary |
| Gene information | Gene symbol | RIPK3 | Gene ID | 11035 |
| Gene name | receptor interacting serine/threonine kinase 3 | |
| Synonyms | RIP3 | |
| Cytomap | 14q12 | |
| Type of gene | protein-coding | |
| Description | receptor-interacting serine/threonine-protein kinase 3RIP-3RIP-like protein kinase 3receptor interacting protein 3 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9Y572 | |
| Context | PubMed: RIPK3 [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 |
| RIPK3 | GO:0046777 | protein autophosphorylation | 22265414 |
| RIPK3 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 21931591 |
| RIPK3 | GO:0051260 | protein homooligomerization | 22817896 |
| RIPK3 | GO:0060545 | positive regulation of necroptotic process | 22265414 |
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Exon skipping events across known transcript of Ensembl for RIPK3 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 RIPK3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RIPK3 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112153 | 14 | 24807078:24807246:24807416:24807501:24807627:24807773 | 24807416:24807501 | ENSG00000129465.11 | ENST00000554756.1 |
| exon_skip_112158 | 14 | 24807078:24807246:24807454:24807501:24807627:24807773 | 24807454:24807501 | ENSG00000129465.11 | ENST00000216274.5 |
| exon_skip_112166 | 14 | 24807454:24807501:24807627:24807773:24808220:24808530 | 24807627:24807773 | ENSG00000129465.11 | ENST00000554756.1,ENST00000216274.5 |
| exon_skip_112167 | 14 | 24807627:24807773:24808220:24808530:24808662:24808803 | 24808220:24808530 | ENSG00000129465.11 | ENST00000554756.1,ENST00000216274.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RIPK3 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112153 | 14 | 24807078:24807246:24807416:24807501:24807627:24807773 | 24807416:24807501 | ENSG00000129465.11 | ENST00000554756.1 |
| exon_skip_112158 | 14 | 24807078:24807246:24807454:24807501:24807627:24807773 | 24807454:24807501 | ENSG00000129465.11 | ENST00000216274.5 |
| exon_skip_112166 | 14 | 24807454:24807501:24807627:24807773:24808220:24808530 | 24807627:24807773 | ENSG00000129465.11 | ENST00000216274.5,ENST00000554756.1 |
| exon_skip_112167 | 14 | 24807627:24807773:24808220:24808530:24808662:24808803 | 24808220:24808530 | ENSG00000129465.11 | ENST00000216274.5,ENST00000554756.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RIPK3 |
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 |
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 RIPK3 |
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 RIPK3 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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-G3-A3CJ-01 | exon_skip_112167 | 24808221 | 24808530 | 24808407 | 24808407 | Frame_Shift_Del | T | - | p.F96fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_112167 | 24808221 | 24808530 | 24808407 | 24808407 | Frame_Shift_Del | T | - | p.K95fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_112167 | 24808221 | 24808530 | 24808484 | 24808484 | Nonsense_Mutation | C | A | p.E70* |
- 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 |
| SNUC5_LARGE_INTESTINE | 24807417 | 24807501 | 24807467 | 24807467 | Missense_Mutation | T | C | p.R218G |
| SNUC5_LARGE_INTESTINE | 24807455 | 24807501 | 24807467 | 24807467 | Missense_Mutation | T | C | p.R218G |
| HEC59_ENDOMETRIUM | 24807628 | 24807773 | 24807727 | 24807727 | Missense_Mutation | C | T | p.G173E |
| SBC5_LUNG | 24808221 | 24808530 | 24808226 | 24808226 | Missense_Mutation | C | A | p.V156F |
| LOVO_LARGE_INTESTINE | 24808221 | 24808530 | 24808226 | 24808226 | Missense_Mutation | C | T | p.V156I |
| HCT116_LARGE_INTESTINE | 24808221 | 24808530 | 24808384 | 24808384 | Missense_Mutation | G | A | p.S103L |
| HEC251_ENDOMETRIUM | 24808221 | 24808530 | 24808404 | 24808404 | Missense_Mutation | G | T | p.F96L |
| OC316_OVARY | 24808221 | 24808530 | 24808529 | 24808529 | Splice_Site | T | A | p.K55* |
| OC314_OVARY | 24808221 | 24808530 | 24808529 | 24808529 | Splice_Site | T | A | p.K55* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIPK3 |
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 RIPK3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIPK3 |
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RelatedDrugs for RIPK3 |
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 RIPK3 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RIPK3 | C0006663 | Calcinosis | 1 | CTD_human |
| RIPK3 | C0018824 | Heart valve disease | 1 | CTD_human |