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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for IRAK3 |
Gene summary |
Gene information | Gene symbol | IRAK3 | Gene ID | 11213 |
Gene name | interleukin 1 receptor associated kinase 3 | |
Synonyms | ASRT5|IRAKM | |
Cytomap | 12q14.3 | |
Type of gene | protein-coding | |
Description | interleukin-1 receptor-associated kinase 3IL-1 receptor-associated kinase M | |
Modification date | 20180523 | |
UniProtAcc | Q9Y616 | |
Context | PubMed: IRAK3 [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 |
IRAK3 | GO:0006468 | protein phosphorylation | 10383454 |
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Exon skipping events across known transcript of Ensembl for IRAK3 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 IRAK3 |
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 IRAK3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_85026 | 12 | 66603926:66603981:66605225:66605377:66610950:66611015 | 66605225:66605377 | ENSG00000090376.4 | ENST00000261233.4,ENST00000457197.2 |
exon_skip_85027 | 12 | 66610950:66611015:66620502:66620617:66622031:66622150 | 66620502:66620617 | ENSG00000090376.4 | ENST00000261233.4,ENST00000457197.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IRAK3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_85026 | 12 | 66603926:66603981:66605225:66605377:66610950:66611015 | 66605225:66605377 | ENSG00000090376.4 | ENST00000261233.4,ENST00000457197.2 |
exon_skip_85027 | 12 | 66610950:66611015:66620502:66620617:66622031:66622150 | 66620502:66620617 | ENSG00000090376.4 | ENST00000261233.4,ENST00000457197.2 |
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 IRAK3 |
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 |
ENST00000261233 | 66605225 | 66605377 | Frame-shift |
ENST00000261233 | 66620502 | 66620617 | 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 |
ENST00000261233 | 66605225 | 66605377 | Frame-shift |
ENST00000261233 | 66620502 | 66620617 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for IRAK3 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 IRAK3 |
- 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-DD-A3A0-01 | exon_skip_85026 | 66605226 | 66605377 | 66605316 | 66605316 | Frame_Shift_Del | T | - | p.I176fs |
ESCA | TCGA-LN-A4A4-01 | exon_skip_85027 | 66620503 | 66620617 | 66620609 | 66620609 | Nonsense_Mutation | C | T | p.Q254X |
STAD | TCGA-BR-8078-01 | exon_skip_85027 | 66620503 | 66620617 | 66620619 | 66620619 | Splice_Site | T | C | . |
STAD | TCGA-BR-8078-01 | exon_skip_85027 | 66620503 | 66620617 | 66620619 | 66620619 | Splice_Site | T | C | p.V256_splice |
- 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 |
EN_ENDOMETRIUM | 66605226 | 66605377 | 66605315 | 66605316 | Frame_Shift_Ins | - | T | p.I176fs |
RKO_LARGE_INTESTINE | 66620503 | 66620617 | 66620514 | 66620515 | Frame_Shift_Ins | - | A | p.N223fs |
YAMATO_SOFT_TISSUE | 66605226 | 66605377 | 66605231 | 66605231 | Missense_Mutation | C | G | p.L148V |
SNU1040_LARGE_INTESTINE | 66620503 | 66620617 | 66620560 | 66620560 | Missense_Mutation | C | A | p.F237L |
HCC2108_LUNG | 66620503 | 66620617 | 66620574 | 66620575 | Missense_Mutation | CA | AC | p.P242H |
MORCPR_LUNG | 66620503 | 66620617 | 66620574 | 66620575 | Missense_Mutation | CA | AC | p.P242H |
MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66620503 | 66620617 | 66620588 | 66620588 | Missense_Mutation | G | A | p.G247R |
T3M4_PANCREAS | 66620503 | 66620617 | 66620588 | 66620588 | Missense_Mutation | G | A | p.G247R |
MCC142_SKIN | 66620503 | 66620617 | 66620604 | 66620604 | Missense_Mutation | G | A | p.R252K |
HCC1569_BREAST | 66620503 | 66620617 | 66620611 | 66620611 | Missense_Mutation | G | C | p.Q254H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IRAK3 |
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 |
exon_skip_85026 | 12 | 66603926:66603981:66605225:66605377:66610950:66611015 | 66605225:66605377 | ENST00000261233.4,ENST00000457197.2 | PRAD | rs1152888 | chr12:66605228 | A/G | 3.05e-03 |
exon_skip_85026 | 12 | 66603926:66603981:66605225:66605377:66610950:66611015 | 66605225:66605377 | ENST00000261233.4,ENST00000457197.2 | PRAD | rs1152888 | chr12:66605228 | A/G | 3.06e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IRAK3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IRAK3 |
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RelatedDrugs for IRAK3 |
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 |
Q9Y616 | DB12010 | Fostamatinib | Interleukin-1 receptor-associated kinase 3 | small molecule | approved|investigational |
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RelatedDiseases for IRAK3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
IRAK3 | C0035126 | Reperfusion Injury | 1 | CTD_human |