|
||||||
|
 | |
| |
| |
| |
| 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 MAP3K3 |
 Gene summary |
| Gene information | Gene symbol | MAP3K3 | Gene ID | 4215 |
| Gene name | mitogen-activated protein kinase kinase kinase 3 | |
| Synonyms | MAPKKK3|MEKK3 | |
| Cytomap | 17q23.3 | |
| Type of gene | protein-coding | |
| Description | mitogen-activated protein kinase kinase kinase 3MAP/ERK kinase kinase 3MAPK/ERK kinase kinase 3MEK kinase 3MEKK 3 | |
| Modification date | 20180529 | |
| UniProtAcc | Q99759 | |
| Context | PubMed: MAP3K3 [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 |
| MAP3K3 | GO:0035556 | intracellular signal transduction | 15001576 |
| MAP3K3 | GO:0046777 | protein autophosphorylation | 15001576 |
Top |
Exon skipping events across known transcript of Ensembl for MAP3K3 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. |
 |
Top |
Gene isoform structures and expression levels for MAP3K3 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for MAP3K3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155254 | 17 | 61710040:61710162:61712068:61712161:61723393:61723434 | 61712068:61712161 | ENSG00000198909.3 | ENST00000579585.1,ENST00000584573.1,ENST00000361357.3 |
| exon_skip_155255 | 17 | 61710040:61710162:61723393:61723434:61729916:61730016 | 61723393:61723434 | ENSG00000198909.3 | ENST00000361733.3,ENST00000577395.1 |
| exon_skip_155257 | 17 | 61735153:61735267:61744299:61744420:61759125:61759259 | 61744299:61744420 | ENSG00000198909.3 | ENST00000579585.1,ENST00000584573.1,ENST00000361733.3,ENST00000577597.1,ENST00000577395.1,ENST00000361357.3 |
| exon_skip_155269 | 17 | 61744345:61744420:61759125:61759259:61762876:61762938 | 61759125:61759259 | ENSG00000198909.3 | ENST00000579585.1,ENST00000584573.1,ENST00000361733.3,ENST00000577597.1,ENST00000577395.1,ENST00000361357.3 |
| exon_skip_155276 | 17 | 61769092:61769222:61769601:61769779:61770908:61771224 | 61769601:61769779 | ENSG00000198909.3 | ENST00000579585.1,ENST00000584573.1,ENST00000361733.3,ENST00000577597.1,ENST00000577395.1,ENST00000361357.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for MAP3K3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155254 | 17 | 61710040:61710162:61712068:61712161:61723393:61723434 | 61712068:61712161 | ENSG00000198909.3 | ENST00000579585.1,ENST00000584573.1,ENST00000361357.3 |
| exon_skip_155255 | 17 | 61710040:61710162:61723393:61723434:61729916:61730016 | 61723393:61723434 | ENSG00000198909.3 | ENST00000361733.3,ENST00000577395.1 |
| exon_skip_155257 | 17 | 61735153:61735267:61744299:61744420:61759125:61759259 | 61744299:61744420 | ENSG00000198909.3 | ENST00000579585.1,ENST00000584573.1,ENST00000361733.3,ENST00000361357.3,ENST00000577395.1,ENST00000577597.1 |
| exon_skip_155263 | 17 | 61744345:61744420:61745505:61745694:61750204:61750274 | 61745505:61745694 | ENSG00000198909.3 | ENST00000585302.1 |
| exon_skip_155269 | 17 | 61744345:61744420:61759125:61759259:61762876:61762938 | 61759125:61759259 | ENSG00000198909.3 | ENST00000579585.1,ENST00000584573.1,ENST00000361733.3,ENST00000361357.3,ENST00000577395.1,ENST00000577597.1 |
| exon_skip_155271 | 17 | 61745505:61745694:61750204:61750274:61759125:61759259 | 61750204:61750274 | ENSG00000198909.3 | ENST00000585302.1 |
| exon_skip_155276 | 17 | 61769092:61769222:61769601:61769779:61770908:61771224 | 61769601:61769779 | ENSG00000198909.3 | ENST00000579585.1,ENST00000584573.1,ENST00000361733.3,ENST00000361357.3,ENST00000577395.1,ENST00000577597.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MAP3K3 |
| 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 |
| ENST00000361733 | 61723393 | 61723434 | Frame-shift |
| ENST00000361733 | 61744299 | 61744420 | Frame-shift |
| ENST00000361733 | 61759125 | 61759259 | Frame-shift |
| ENST00000361733 | 61769601 | 61769779 | 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 |
| ENST00000361733 | 61723393 | 61723434 | Frame-shift |
| ENST00000361733 | 61744299 | 61744420 | Frame-shift |
| ENST00000361733 | 61759125 | 61759259 | Frame-shift |
| ENST00000361733 | 61769601 | 61769779 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for MAP3K3 |
| 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 |
Top |
SNVs in the skipped exons for MAP3K3 |
| - 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 | 61744300 | 61744420 | 61744387 | 61744387 | Frame_Shift_Del | C | - | p.P189fs | |
| STAD | TCGA-BR-4201-01 | exon_skip_155269 | 61759126 | 61759259 | 61759155 | 61759155 | Frame_Shift_Del | C | - | p.P177fs |
| STAD | TCGA-BR-4201-01 | exon_skip_155269 | 61759126 | 61759259 | 61759155 | 61759155 | Frame_Shift_Del | C | - | p.P208fs |
| LUAD | TCGA-17-Z045-01 | exon_skip_155276 | 61769602 | 61769779 | 61769652 | 61769652 | Frame_Shift_Del | G | - | p.G540fs |
| THCA | TCGA-EL-A3MX-01 | 61744300 | 61744420 | 61744386 | 61744387 | Frame_Shift_Ins | - | C | p.HP187fs | |
| THCA | TCGA-EL-A3MX-01 | 61744300 | 61744420 | 61744386 | 61744387 | Frame_Shift_Ins | - | C | p.Q187fs | |
| UCEC | TCGA-BG-A0M4-01 | 61744300 | 61744420 | 61744386 | 61744387 | Frame_Shift_Ins | - | C | p.Q156fs | |
| STAD | TCGA-BR-8372-01 | exon_skip_155269 | 61759126 | 61759259 | 61759260 | 61759260 | Splice_Site | G | A | . |
| STAD | TCGA-BR-8372-01 | exon_skip_155269 | 61759126 | 61759259 | 61759260 | 61759260 | Splice_Site | G | A | p.C212_splice |
| UCEC | TCGA-AP-A059-01 | exon_skip_155276 | 61769602 | 61769779 | 61769601 | 61769601 | Splice_Site | G | A | e16-1 |
| - 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 |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 61744300 | 61744420 | 61744319 | 61744319 | Missense_Mutation | C | A | p.S134Y |
| MDAMB361_BREAST | 61744300 | 61744420 | 61744319 | 61744319 | Missense_Mutation | C | T | p.S134F |
| NCIH1573_LUNG | 61744300 | 61744420 | 61744407 | 61744407 | Missense_Mutation | G | T | p.R163S |
| GP5D_LARGE_INTESTINE | 61759126 | 61759259 | 61759147 | 61759147 | Missense_Mutation | G | A | p.S175N |
| SNU878_LIVER | 61759126 | 61759259 | 61759194 | 61759194 | Missense_Mutation | C | T | p.R191W |
| HEC6_ENDOMETRIUM | 61769602 | 61769779 | 61769700 | 61769700 | Missense_Mutation | C | T | p.R525C |
| A431_SKIN | 61769602 | 61769779 | 61769736 | 61769736 | Missense_Mutation | G | A | p.E537K |
| NCIH2347_LUNG | 61769602 | 61769779 | 61769754 | 61769754 | Missense_Mutation | G | T | p.G543C |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP3K3 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP3K3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP3K3 |
Top |
RelatedDrugs for MAP3K3 |
| 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 |
| Q99759 | DB12010 | Fostamatinib | Mitogen-activated protein kinase kinase kinase 3 | small molecule | approved|investigational |
Top |
RelatedDiseases for MAP3K3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MAP3K3 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|