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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 RIPK4 |
 Gene summary |
| Gene information | Gene symbol | RIPK4 | Gene ID | 54101 |
| Gene name | receptor interacting serine/threonine kinase 4 | |
| Synonyms | ANKK2|ANKRD3|DIK|NKRD3|PKK|PPS2|RIP4 | |
| Cytomap | 21q22.3 | |
| Type of gene | protein-coding | |
| Description | receptor-interacting serine/threonine-protein kinase 4PKC-delta-interacting protein kinaseankyrin repeat domain-containing protein 3protein kinase C-associated kinaseserine/threonine-protein kinase ANKRD3 | |
| Modification date | 20180519 | |
| UniProtAcc | P57078 | |
| Context | PubMed: RIPK4 [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 RIPK4 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 RIPK4 |
| 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 RIPK4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_362185 | 21 | 43160762:43162157:43164041:43164300:43165918:43166022 | 43164041:43164300 | ENSG00000183421.7 | ENST00000332512.3,ENST00000544709.1,ENST00000352483.2,ENST00000542057.1 |
| exon_skip_362186 | 21 | 43165918:43166022:43166772:43166931:43169313:43169363 | 43166772:43166931 | ENSG00000183421.7 | ENST00000332512.3,ENST00000544709.1,ENST00000542057.1 |
| exon_skip_362187 | 21 | 43169313:43169363:43171256:43171405:43176684:43176976 | 43171256:43171405 | ENSG00000183421.7 | ENST00000332512.3,ENST00000544709.1,ENST00000352483.2,ENST00000542057.1 |
| exon_skip_362191 | 21 | 43171256:43171405:43176684:43176976:43187019:43187266 | 43176684:43176976 | ENSG00000183421.7 | ENST00000352483.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RIPK4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_362185 | 21 | 43160762:43162157:43164041:43164300:43165918:43166022 | 43164041:43164300 | ENSG00000183421.7 | ENST00000332512.3,ENST00000352483.2,ENST00000544709.1,ENST00000542057.1 |
| exon_skip_362186 | 21 | 43165918:43166022:43166772:43166931:43169313:43169363 | 43166772:43166931 | ENSG00000183421.7 | ENST00000332512.3,ENST00000544709.1,ENST00000542057.1 |
| exon_skip_362187 | 21 | 43169313:43169363:43171256:43171405:43176684:43176976 | 43171256:43171405 | ENSG00000183421.7 | ENST00000332512.3,ENST00000352483.2,ENST00000544709.1,ENST00000542057.1 |
| exon_skip_362191 | 21 | 43171256:43171405:43176684:43176976:43187019:43187266 | 43176684:43176976 | ENSG00000183421.7 | ENST00000352483.2 |
| 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 RIPK4 |
| 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 |
| ENST00000352483 | 43164041 | 43164300 | Frame-shift |
| ENST00000352483 | 43171256 | 43171405 | Frame-shift |
| ENST00000352483 | 43176684 | 43176976 | 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 |
| ENST00000352483 | 43164041 | 43164300 | Frame-shift |
| ENST00000352483 | 43171256 | 43171405 | Frame-shift |
| ENST00000352483 | 43176684 | 43176976 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RIPK4 |
| 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 RIPK4 |
| - 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. |
RIPK4_HNSC_exon_skip_362186_psi_boxplot.png |
RIPK4_STAD_exon_skip_362186_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 |
| STAD | TCGA-BR-8361-01 | exon_skip_362186 | 43166773 | 43166931 | 43166800 | 43166800 | Frame_Shift_Del | C | - | p.D269fs |
| HNSC | TCGA-CV-7253-01 | exon_skip_362186 | 43166773 | 43166931 | 43166897 | 43166898 | Frame_Shift_Ins | - | A | p.G236fs |
| HNSC | TCGA-CV-7253-01 | exon_skip_362186 | 43166773 | 43166931 | 43166897 | 43166898 | Frame_Shift_Ins | - | A | p.V236fs |
| HNSC | TCGA-CV-A461-01 | exon_skip_362191 | 43176685 | 43176976 | 43176869 | 43176870 | Frame_Shift_Ins | - | C | p.V97fs |
| SARC | TCGA-DX-A48K-01 | exon_skip_362186 | 43166773 | 43166931 | 43166794 | 43166794 | Nonsense_Mutation | G | A | p.R271* |
| SKCM | TCGA-ER-A19P-06 | exon_skip_362186 | 43166773 | 43166931 | 43166929 | 43166929 | Nonsense_Mutation | C | A | p.E226* |
| SKCM | TCGA-D3-A8GM-06 | exon_skip_362191 | 43176685 | 43176976 | 43176801 | 43176801 | Nonsense_Mutation | G | A | p.R120* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CV-7253-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_362186 | |
| Skipped exon start: 43166773 | |
| Skipped exon end: 43166931 | |
| Mutation start: 43166897 | |
| Mutation end: 43166898 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.G236fs | |
| Sample: TCGA-CV-7253-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_362186 | |
| Skipped exon start: 43166773 | |
| Skipped exon end: 43166931 | |
| Mutation start: 43166897 | |
| Mutation end: 43166898 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.V236fs | |
exon_skip_101750_HNSC_TCGA-CV-7253-01.png | |
exon_skip_101751_HNSC_TCGA-CV-7253-01.png | |
exon_skip_362186_HNSC_TCGA-CV-7253-01.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 |
| MRKNU1_BREAST | 43164042 | 43164300 | 43164144 | 43164144 | Frame_Shift_Del | A | - | p.S413fs |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43176685 | 43176976 | 43176840 | 43176847 | Frame_Shift_Del | GCTTTTCC | - | p.LEKL104fs |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43164042 | 43164300 | 43164059 | 43164059 | Missense_Mutation | C | T | p.R441Q |
| AN3CA_ENDOMETRIUM | 43164042 | 43164300 | 43164173 | 43164173 | Missense_Mutation | C | T | p.R403H |
| OVMANA_OVARY | 43164042 | 43164300 | 43164258 | 43164258 | Missense_Mutation | C | T | p.D375N |
| LU134A_LUNG | 43166773 | 43166931 | 43166826 | 43166826 | Missense_Mutation | C | T | p.R260H |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43166773 | 43166931 | 43166847 | 43166847 | Missense_Mutation | C | T | p.R253H |
| COLO783_SKIN | 43166773 | 43166931 | 43166850 | 43166851 | Missense_Mutation | GG | AA | p.P252L |
| COLO783_SKIN | 43166773 | 43166931 | 43166850 | 43166850 | Missense_Mutation | G | A | p.P252L |
| COLO783_SKIN | 43166773 | 43166931 | 43166851 | 43166851 | Missense_Mutation | G | A | p.P252S |
| HCT15_LARGE_INTESTINE | 43166773 | 43166931 | 43166886 | 43166886 | Missense_Mutation | T | A | p.H240L |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43166773 | 43166931 | 43166913 | 43166913 | Missense_Mutation | T | C | p.H231R |
| HELA_CERVIX | 43166773 | 43166931 | 43166913 | 43166913 | Missense_Mutation | T | G | p.H231P |
| HCC33_LUNG | 43171257 | 43171405 | 43171306 | 43171306 | Missense_Mutation | G | A | p.R192C |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43171257 | 43171405 | 43171326 | 43171326 | Missense_Mutation | A | C | p.I185S |
| JHUEM2_ENDOMETRIUM | 43171257 | 43171405 | 43171332 | 43171332 | Missense_Mutation | C | T | p.G183D |
| HEC108_ENDOMETRIUM | 43171257 | 43171405 | 43171377 | 43171377 | Missense_Mutation | T | C | p.N168S |
| SNU1_STOMACH | 43176685 | 43176976 | 43176719 | 43176719 | Missense_Mutation | G | A | p.A147V |
| HCT116_LARGE_INTESTINE | 43176685 | 43176976 | 43176720 | 43176720 | Missense_Mutation | C | T | p.A147T |
| KON_UPPER_AERODIGESTIVE_TRACT | 43176685 | 43176976 | 43176730 | 43176730 | Missense_Mutation | G | T | p.D143E |
| SNU1040_LARGE_INTESTINE | 43176685 | 43176976 | 43176789 | 43176789 | Missense_Mutation | C | T | p.E124K |
| TE15_OESOPHAGUS | 43176685 | 43176976 | 43176800 | 43176800 | Missense_Mutation | C | T | p.R120Q |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 43176685 | 43176976 | 43176810 | 43176810 | Missense_Mutation | G | T | p.L117I |
| HEC108_ENDOMETRIUM | 43176685 | 43176976 | 43176818 | 43176818 | Missense_Mutation | G | A | p.P114L |
| CP66MEL_SKIN | 43176685 | 43176976 | 43176851 | 43176851 | Missense_Mutation | G | A | p.S103F |
| HCT15_LARGE_INTESTINE | 43176685 | 43176976 | 43176894 | 43176894 | Missense_Mutation | G | A | p.R89C |
| HRT18_LARGE_INTESTINE | 43176685 | 43176976 | 43176894 | 43176894 | Missense_Mutation | G | A | p.R89C |
| JHH6_LIVER | 43176685 | 43176976 | 43176968 | 43176968 | Missense_Mutation | A | G | p.M64T |
| HCE4_OESOPHAGUS | 43171257 | 43171405 | 43171405 | 43171405 | Splice_Site | T | A | p.I159F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIPK4 |
| 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 RIPK4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIPK4 |
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RelatedDrugs for RIPK4 |
| 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 |
| P57078 | DB12010 | Fostamatinib | Receptor-interacting serine/threonine-protein kinase 4 | small molecule | approved|investigational |
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RelatedDiseases for RIPK4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RIPK4 | C1849718 | POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE | 2 | ORPHANET;UNIPROT |
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