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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 MAP3K1 |
 Gene summary |
| Gene information | Gene symbol | MAP3K1 | Gene ID | 4214 |
| Gene name | mitogen-activated protein kinase kinase kinase 1 | |
| Synonyms | MAPKKK1|MEKK|MEKK 1|MEKK1|SRXY6 | |
| Cytomap | 5q11.2 | |
| Type of gene | protein-coding | |
| Description | mitogen-activated protein kinase kinase kinase 1MAP/ERK kinase kinase 1MAPK/ERK kinase kinase 1MEK kinase 1mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase | |
| Modification date | 20180523 | |
| UniProtAcc | Q13233 | |
| Context | PubMed: MAP3K1 [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 MAP3K1 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 MAP3K1 |
| 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 MAP3K1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434847 | 5 | 56161166:56161283:56161655:56161804:56167736:56167858 | 56161655:56161804 | ENSG00000095015.5 | ENST00000399503.3 |
| exon_skip_434849 | 5 | 56168651:56168832:56170858:56171137:56174806:56174928 | 56170858:56171137 | ENSG00000095015.5 | ENST00000399503.3 |
| exon_skip_434851 | 5 | 56170858:56171137:56174806:56174928:56176537:56176629 | 56174806:56174928 | ENSG00000095015.5 | ENST00000399503.3 |
| exon_skip_434852 | 5 | 56181779:56181890:56183204:56183347:56184052:56184184 | 56183204:56183347 | ENSG00000095015.5 | ENST00000399503.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAP3K1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434847 | 5 | 56161166:56161283:56161655:56161804:56167736:56167858 | 56161655:56161804 | ENSG00000095015.5 | ENST00000399503.3 |
| exon_skip_434849 | 5 | 56168651:56168832:56170858:56171137:56174806:56174928 | 56170858:56171137 | ENSG00000095015.5 | ENST00000399503.3 |
| exon_skip_434851 | 5 | 56170858:56171137:56174806:56174928:56176537:56176629 | 56174806:56174928 | ENSG00000095015.5 | ENST00000399503.3 |
| exon_skip_434852 | 5 | 56181779:56181890:56183204:56183347:56184052:56184184 | 56183204:56183347 | ENSG00000095015.5 | ENST00000399503.3 |
| 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 MAP3K1 |
| 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 |
| ENST00000399503 | 56161655 | 56161804 | Frame-shift |
| ENST00000399503 | 56174806 | 56174928 | Frame-shift |
| ENST00000399503 | 56183204 | 56183347 | Frame-shift |
| ENST00000399503 | 56170858 | 56171137 | 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 |
| ENST00000399503 | 56161655 | 56161804 | Frame-shift |
| ENST00000399503 | 56174806 | 56174928 | Frame-shift |
| ENST00000399503 | 56183204 | 56183347 | Frame-shift |
| ENST00000399503 | 56170858 | 56171137 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAP3K1 |
| 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 |
| ENST00000399503 | 7028 | 1512 | 56170858 | 56171137 | 1687 | 1965 | 562 | 655 |
| 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 |
| ENST00000399503 | 7028 | 1512 | 56170858 | 56171137 | 1687 | 1965 | 562 | 655 |
| 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 |
| Q13233 | 562 | 655 | 2 | 1512 | Chain | ID=PRO_0000086240;Note=Mitogen-activated protein kinase kinase kinase 1 |
| Q13233 | 562 | 655 | 616 | 616 | Natural variant | ID=VAR_065507;Note=In SRXY6. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21129722;Dbxref=dbSNP:rs143853590,PMID:21129722 |
| 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 |
| Q13233 | 562 | 655 | 2 | 1512 | Chain | ID=PRO_0000086240;Note=Mitogen-activated protein kinase kinase kinase 1 |
| Q13233 | 562 | 655 | 616 | 616 | Natural variant | ID=VAR_065507;Note=In SRXY6. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21129722;Dbxref=dbSNP:rs143853590,PMID:21129722 |
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SNVs in the skipped exons for MAP3K1 |
| - 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. |
| - 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_434847 | 56161656 | 56161804 | 56161664 | 56161664 | Frame_Shift_Del | T | - | p.S387fs |
| BRCA | TCGA-B6-A0IO-01 | exon_skip_434849 | 56170859 | 56171137 | 56170880 | 56170880 | Frame_Shift_Del | G | - | p.G570fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434849 | 56170859 | 56171137 | 56170889 | 56170889 | Frame_Shift_Del | T | - | p.F573fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_434849 | 56170859 | 56171137 | 56170909 | 56170910 | Frame_Shift_Del | GA | - | p.579_579del |
| STAD | TCGA-CD-A4MI-01 | exon_skip_434849 | 56170859 | 56171137 | 56170909 | 56170910 | Frame_Shift_Del | GA | - | p.V579fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434849 | 56170859 | 56171137 | 56170970 | 56170970 | Frame_Shift_Del | G | - | p.G600fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434849 | 56170859 | 56171137 | 56170970 | 56170970 | Frame_Shift_Del | G | - | p.N599fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_434849 | 56170859 | 56171137 | 56171018 | 56171018 | Frame_Shift_Del | G | - | p.G617fs |
| BRCA | TCGA-BH-A1FG-01 | exon_skip_434849 | 56170859 | 56171137 | 56171109 | 56171115 | Frame_Shift_Del | CTGTCTA | - | p.V647fs |
| BRCA | TCGA-A8-A082-01 | exon_skip_434852 | 56183205 | 56183347 | 56183311 | 56183311 | Frame_Shift_Del | A | - | p.Q1408fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434852 | 56183205 | 56183347 | 56183320 | 56183320 | Frame_Shift_Del | G | - | p.L1410fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434852 | 56183205 | 56183347 | 56183320 | 56183320 | Frame_Shift_Del | G | - | p.L1410fs |
| BRCA | TCGA-BH-A0DT-01 | exon_skip_434847 | 56161656 | 56161804 | 56161690 | 56161691 | Frame_Shift_Ins | - | T | p.S397fs |
| BRCA | TCGA-AN-A0AS-01 | exon_skip_434849 | 56170859 | 56171137 | 56170931 | 56170932 | Frame_Shift_Ins | - | T | p.S588fs |
| BRCA | TCGA-E9-A1R6-01 | exon_skip_434849 | 56170859 | 56171137 | 56171058 | 56171059 | Frame_Shift_Ins | - | A | p.D630fs |
| BRCA | TCGA-A7-A0DB-01 | exon_skip_434851 | 56174807 | 56174928 | 56174851 | 56174852 | Frame_Shift_Ins | - | GC | p.E671fs |
| BRCA | TCGA-BH-A0BO-01 | exon_skip_434852 | 56183205 | 56183347 | 56183240 | 56183241 | Frame_Shift_Ins | - | T | p.R1385fs |
| BRCA | TCGA-D8-A1XA-01 | exon_skip_434852 | 56183205 | 56183347 | 56183240 | 56183241 | Frame_Shift_Ins | - | T | p.R1385fs |
| KIRP | TCGA-P4-A5EA-01 | exon_skip_434852 | 56183205 | 56183347 | 56183244 | 56183245 | Frame_Shift_Ins | - | TA | p.R1385fs |
| BRCA | TCGA-BH-A0BO-01 | exon_skip_434852 | 56183205 | 56183347 | 56183296 | 56183297 | Frame_Shift_Ins | - | G | p.E1403fs |
| ESCA | TCGA-VR-A8EZ-01 | exon_skip_434847 | 56161656 | 56161804 | 56161771 | 56161771 | Nonsense_Mutation | C | A | p.S423* |
| ESCA | TCGA-VR-A8EZ-01 | exon_skip_434847 | 56161656 | 56161804 | 56161771 | 56161771 | Nonsense_Mutation | C | A | p.S423X |
| BRCA | TCGA-A8-A09B-01 | exon_skip_434847 | 56161656 | 56161804 | 56161795 | 56161795 | Nonsense_Mutation | C | A | p.S431* |
| BRCA | TCGA-A2-A0CP-01 | exon_skip_434849 | 56170859 | 56171137 | 56170973 | 56170973 | Nonsense_Mutation | G | T | p.E601* |
| BRCA | TCGA-AN-A03X-01 | exon_skip_434851 | 56174807 | 56174928 | 56174909 | 56174909 | Nonsense_Mutation | A | T | p.K690* |
| - 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 |
| SKUT1_SOFT_TISSUE | 56161656 | 56161804 | 56161717 | 56161717 | Missense_Mutation | G | A | p.R405H |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56161656 | 56161804 | 56161722 | 56161722 | Missense_Mutation | A | C | p.T407P |
| UMUC6_URINARY_TRACT | 56161656 | 56161804 | 56161774 | 56161774 | Missense_Mutation | C | T | p.S424F |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56170859 | 56171137 | 56170878 | 56170878 | Missense_Mutation | T | C | p.V569A |
| SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56170859 | 56171137 | 56170893 | 56170893 | Missense_Mutation | C | T | p.S574F |
| SW872_SOFT_TISSUE | 56170859 | 56171137 | 56171040 | 56171040 | Missense_Mutation | C | T | p.S623F |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56170859 | 56171137 | 56171063 | 56171063 | Missense_Mutation | G | A | p.V631M |
| MCC142_SKIN | 56174807 | 56174928 | 56174873 | 56174873 | Missense_Mutation | A | G | p.R678G |
| SNU1040_LARGE_INTESTINE | 56174807 | 56174928 | 56174892 | 56174892 | Missense_Mutation | T | C | p.V684A |
| A1207_CENTRAL_NERVOUS_SYSTEM | 56174807 | 56174928 | 56174921 | 56174921 | Missense_Mutation | G | A | p.A694T |
| NCIH1648_LUNG | 56183205 | 56183347 | 56183253 | 56183253 | Missense_Mutation | A | T | p.D1388V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP3K1 |
| 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 MAP3K1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP3K1 |
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RelatedDrugs for MAP3K1 |
| 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 |
| Q13233 | DB11967 | Binimetinib | Mitogen-activated protein kinase kinase kinase 1 | small molecule | approved|investigational | |
| Q13233 | DB12010 | Fostamatinib | Mitogen-activated protein kinase kinase kinase 1 | small molecule | approved|investigational |
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RelatedDiseases for MAP3K1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MAP3K1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| MAP3K1 | C3151064 | 46,XY SEX REVERSAL 6 | 1 | UNIPROT |
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