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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 MAP3K6 |
Gene summary |
Gene information | Gene symbol | MAP3K6 | Gene ID | 9064 |
Gene name | mitogen-activated protein kinase kinase kinase 6 | |
Synonyms | ASK2|MAPKKK6|MEKK6 | |
Cytomap | 1p36.11 | |
Type of gene | protein-coding | |
Description | mitogen-activated protein kinase kinase kinase 6apoptosis signal-regulating kinase 2 | |
Modification date | 20180523 | |
UniProtAcc | O95382 | |
Context | PubMed: MAP3K6 [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 |
MAP3K6 | GO:0006468 | protein phosphorylation | 9875215 |
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Exon skipping events across known transcript of Ensembl for MAP3K6 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 MAP3K6 |
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 MAP3K6 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_23553 | 1 | 27681881:27681960:27682159:27682236:27682516:27682570 | 27682159:27682236 | ENSG00000142733.10 | ENST00000493901.1,ENST00000357582.2,ENST00000470890.1,ENST00000374040.3 |
exon_skip_23557 | 1 | 27682878:27682991:27683080:27683240:27683499:27683605 | 27683080:27683240 | ENSG00000142733.10 | ENST00000493901.1,ENST00000357582.2,ENST00000374040.3 |
exon_skip_23563 | 1 | 27684201:27684367:27684671:27684810:27684909:27685102 | 27684671:27684810 | ENSG00000142733.10 | ENST00000472410.1,ENST00000493901.1,ENST00000357582.2,ENST00000374040.3 |
exon_skip_23570 | 1 | 27685199:27685357:27685907:27686013:27686348:27686485 | 27685907:27686013 | ENSG00000142733.10 | ENST00000472410.1,ENST00000493901.1,ENST00000357582.2,ENST00000374040.3 |
exon_skip_23573 | 1 | 27686731:27686859:27687195:27687329:27687411:27687499 | 27687195:27687329 | ENSG00000142733.10 | ENST00000472410.1,ENST00000493901.1,ENST00000357582.2,ENST00000374040.3 |
exon_skip_23575 | 1 | 27688010:27688118:27688195:27688358:27688581:27688741 | 27688195:27688358 | ENSG00000142733.10 | ENST00000472410.1,ENST00000493901.1,ENST00000357582.2,ENST00000374040.3 |
exon_skip_23576 | 1 | 27688195:27688358:27688581:27688741:27689131:27689244 | 27688581:27688741 | ENSG00000142733.10 | ENST00000472410.1,ENST00000493901.1,ENST00000357582.2,ENST00000374040.3 |
exon_skip_23587 | 1 | 27689131:27689244:27689341:27689512:27689932:27690039 | 27689341:27689512 | ENSG00000142733.10 | ENST00000472410.1,ENST00000493901.1,ENST00000357582.2,ENST00000374040.3 |
exon_skip_23588 | 1 | 27690694:27690885:27691151:27691175:27691263:27691293 | 27691151:27691175 | ENSG00000142733.10 | ENST00000493901.1,ENST00000357582.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAP3K6 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_23553 | 1 | 27681881:27681960:27682159:27682236:27682516:27682570 | 27682159:27682236 | ENSG00000142733.10 | ENST00000374040.3,ENST00000493901.1,ENST00000470890.1,ENST00000357582.2 |
exon_skip_23557 | 1 | 27682878:27682991:27683080:27683240:27683499:27683605 | 27683080:27683240 | ENSG00000142733.10 | ENST00000374040.3,ENST00000493901.1,ENST00000357582.2 |
exon_skip_23563 | 1 | 27684201:27684367:27684671:27684810:27684909:27685102 | 27684671:27684810 | ENSG00000142733.10 | ENST00000472410.1,ENST00000374040.3,ENST00000493901.1,ENST00000357582.2 |
exon_skip_23570 | 1 | 27685199:27685357:27685907:27686013:27686348:27686485 | 27685907:27686013 | ENSG00000142733.10 | ENST00000472410.1,ENST00000374040.3,ENST00000493901.1,ENST00000357582.2 |
exon_skip_23573 | 1 | 27686731:27686859:27687195:27687329:27687411:27687499 | 27687195:27687329 | ENSG00000142733.10 | ENST00000472410.1,ENST00000374040.3,ENST00000493901.1,ENST00000357582.2 |
exon_skip_23575 | 1 | 27688010:27688118:27688195:27688358:27688581:27688741 | 27688195:27688358 | ENSG00000142733.10 | ENST00000472410.1,ENST00000374040.3,ENST00000493901.1,ENST00000357582.2 |
exon_skip_23576 | 1 | 27688195:27688358:27688581:27688741:27689131:27689244 | 27688581:27688741 | ENSG00000142733.10 | ENST00000472410.1,ENST00000374040.3,ENST00000493901.1,ENST00000357582.2 |
exon_skip_23587 | 1 | 27689131:27689244:27689341:27689512:27689932:27690039 | 27689341:27689512 | ENSG00000142733.10 | ENST00000472410.1,ENST00000374040.3,ENST00000493901.1,ENST00000357582.2 |
exon_skip_23588 | 1 | 27690694:27690885:27691151:27691175:27691263:27691293 | 27691151:27691175 | ENSG00000142733.10 | ENST00000493901.1,ENST00000357582.2 |
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 MAP3K6 |
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 |
ENST00000357582 | 27682159 | 27682236 | Frame-shift |
ENST00000493901 | 27682159 | 27682236 | Frame-shift |
ENST00000357582 | 27683080 | 27683240 | Frame-shift |
ENST00000493901 | 27683080 | 27683240 | Frame-shift |
ENST00000357582 | 27684671 | 27684810 | Frame-shift |
ENST00000493901 | 27684671 | 27684810 | Frame-shift |
ENST00000357582 | 27685907 | 27686013 | Frame-shift |
ENST00000493901 | 27685907 | 27686013 | Frame-shift |
ENST00000357582 | 27687195 | 27687329 | Frame-shift |
ENST00000493901 | 27687195 | 27687329 | Frame-shift |
ENST00000357582 | 27688195 | 27688358 | Frame-shift |
ENST00000493901 | 27688195 | 27688358 | Frame-shift |
ENST00000357582 | 27688581 | 27688741 | Frame-shift |
ENST00000493901 | 27688581 | 27688741 | Frame-shift |
ENST00000357582 | 27689341 | 27689512 | In-frame |
ENST00000493901 | 27689341 | 27689512 | In-frame |
ENST00000357582 | 27691151 | 27691175 | In-frame |
ENST00000493901 | 27691151 | 27691175 | 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 |
ENST00000357582 | 27682159 | 27682236 | Frame-shift |
ENST00000493901 | 27682159 | 27682236 | Frame-shift |
ENST00000357582 | 27683080 | 27683240 | Frame-shift |
ENST00000493901 | 27683080 | 27683240 | Frame-shift |
ENST00000357582 | 27684671 | 27684810 | Frame-shift |
ENST00000493901 | 27684671 | 27684810 | Frame-shift |
ENST00000357582 | 27685907 | 27686013 | Frame-shift |
ENST00000493901 | 27685907 | 27686013 | Frame-shift |
ENST00000357582 | 27687195 | 27687329 | Frame-shift |
ENST00000493901 | 27687195 | 27687329 | Frame-shift |
ENST00000357582 | 27688195 | 27688358 | Frame-shift |
ENST00000493901 | 27688195 | 27688358 | Frame-shift |
ENST00000357582 | 27688581 | 27688741 | Frame-shift |
ENST00000493901 | 27688581 | 27688741 | Frame-shift |
ENST00000357582 | 27689341 | 27689512 | In-frame |
ENST00000493901 | 27689341 | 27689512 | In-frame |
ENST00000357582 | 27691151 | 27691175 | In-frame |
ENST00000493901 | 27691151 | 27691175 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAP3K6 |
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 |
ENST00000357582 | 4153 | 1288 | 27689341 | 27689512 | 1241 | 1411 | 324 | 380 |
ENST00000493901 | 4326 | 1288 | 27689341 | 27689512 | 1212 | 1382 | 324 | 380 |
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 |
ENST00000357582 | 4153 | 1288 | 27689341 | 27689512 | 1241 | 1411 | 324 | 380 |
ENST00000493901 | 4326 | 1288 | 27689341 | 27689512 | 1212 | 1382 | 324 | 380 |
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 |
O95382 | 324 | 380 | 1 | 1288 | Chain | ID=PRO_0000086251;Note=Mitogen-activated protein kinase kinase kinase 6 |
O95382 | 324 | 380 | 1 | 1288 | Chain | ID=PRO_0000086251;Note=Mitogen-activated protein kinase kinase kinase 6 |
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 |
O95382 | 324 | 380 | 1 | 1288 | Chain | ID=PRO_0000086251;Note=Mitogen-activated protein kinase kinase kinase 6 |
O95382 | 324 | 380 | 1 | 1288 | Chain | ID=PRO_0000086251;Note=Mitogen-activated protein kinase kinase kinase 6 |
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SNVs in the skipped exons for MAP3K6 |
- 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_23553 | 27682160 | 27682236 | 27682167 | 27682167 | Frame_Shift_Del | G | - | p.R1261fs |
BLCA | TCGA-FD-A3N5-01 | exon_skip_23557 | 27683081 | 27683240 | 27683217 | 27683233 | Frame_Shift_Del | GTGAGACCGCCTCCTTC | - | p.E1124fs |
BLCA | TCGA-FD-A3N5-01 | exon_skip_23557 | 27683081 | 27683240 | 27683217 | 27683233 | Frame_Shift_Del | GTGAGACCGCCTCCTTC | - | p.EKEAVSP1124fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_23563 | 27684672 | 27684810 | 27684804 | 27684804 | Frame_Shift_Del | G | - | p.P928fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_23575 | 27688196 | 27688358 | 27688293 | 27688293 | Frame_Shift_Del | G | - | p.P494fs |
KIRP | TCGA-4A-A93W-01 | exon_skip_23587 | 27689342 | 27689512 | 27689486 | 27689486 | Frame_Shift_Del | T | - | p.K333fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_23588 | 27691152 | 27691175 | 27691165 | 27691165 | Frame_Shift_Del | A | - | p.F164fs |
HNSC | TCGA-CQ-5324-01 | exon_skip_23553 | 27682160 | 27682236 | 27682188 | 27682188 | Nonsense_Mutation | G | A | p.R1254* |
STAD | TCGA-BR-6452-01 | exon_skip_23576 | 27688582 | 27688741 | 27688704 | 27688704 | Nonsense_Mutation | G | T | p.C431* |
STAD | TCGA-BR-6452-01 | exon_skip_23576 | 27688582 | 27688741 | 27688704 | 27688704 | Nonsense_Mutation | G | T | p.C431X |
COAD | TCGA-AM-5820-01 | exon_skip_23576 | 27688582 | 27688741 | 27688743 | 27688743 | Splice_Site | T | C | . |
- 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 |
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27683081 | 27683240 | 27683216 | 27683216 | Missense_Mutation | G | T | p.P1130Q |
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27683081 | 27683240 | 27683219 | 27683219 | Missense_Mutation | G | A | p.S1129L |
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27683081 | 27683240 | 27683225 | 27683225 | Missense_Mutation | G | A | p.A1127V |
SKMEL3_SKIN | 27684672 | 27684810 | 27684706 | 27684706 | Missense_Mutation | G | T | p.R961S |
SW962_VULVA | 27684672 | 27684810 | 27684793 | 27684793 | Missense_Mutation | G | T | p.P932T |
NCIH2172_LUNG | 27684672 | 27684810 | 27684798 | 27684798 | Missense_Mutation | G | A | p.A930V |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27684672 | 27684810 | 27684799 | 27684799 | Missense_Mutation | C | T | p.A930T |
MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27685908 | 27686013 | 27685976 | 27685976 | Missense_Mutation | A | G | p.L786P |
HEC108_ENDOMETRIUM | 27687196 | 27687329 | 27687208 | 27687208 | Missense_Mutation | T | A | p.E681V |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27687196 | 27687329 | 27687232 | 27687232 | Missense_Mutation | C | T | p.R673H |
SKMEL2_SKIN | 27687196 | 27687329 | 27687256 | 27687256 | Missense_Mutation | C | T | p.G665D |
NB6_AUTONOMIC_GANGLIA | 27687196 | 27687329 | 27687268 | 27687268 | Missense_Mutation | A | C | p.V661G |
2313287_STOMACH | 27687196 | 27687329 | 27687301 | 27687301 | Missense_Mutation | T | C | p.E650G |
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27688196 | 27688358 | 27688212 | 27688212 | Missense_Mutation | T | C | p.Q521R |
SNU1105_CENTRAL_NERVOUS_SYSTEM | 27688196 | 27688358 | 27688255 | 27688255 | Missense_Mutation | A | C | p.F507V |
OVK18_OVARY | 27688196 | 27688358 | 27688344 | 27688344 | Missense_Mutation | A | G | p.V477A |
OVMANA_OVARY | 27688582 | 27688741 | 27688640 | 27688640 | Missense_Mutation | C | A | p.D453Y |
SNU1_STOMACH | 27689342 | 27689512 | 27689384 | 27689384 | Missense_Mutation | G | A | p.S367L |
LIM1215_LARGE_INTESTINE | 27689342 | 27689512 | 27689420 | 27689420 | Missense_Mutation | A | G | p.M355T |
CORL95_LUNG | 27689342 | 27689512 | 27689421 | 27689421 | Missense_Mutation | T | G | p.M355L |
NCIH841_LUNG | 27689342 | 27689512 | 27689438 | 27689438 | Missense_Mutation | G | A | p.A349V |
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27689342 | 27689512 | 27689466 | 27689466 | Missense_Mutation | G | A | p.P340S |
LNCAPCLONEFGC_PROSTATE | 27688582 | 27688741 | 27688661 | 27688661 | Nonsense_Mutation | C | A | p.G446* |
NCIH1155_LUNG | 27684672 | 27684810 | 27684672 | 27684672 | Splice_Site | C | T | p.R972Q |
HSC4_UPPER_AERODIGESTIVE_TRACT | 27691152 | 27691175 | 27691174 | 27691174 | Splice_Site | T | A | p.E161V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP3K6 |
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 MAP3K6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP3K6 |
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RelatedDrugs for MAP3K6 |
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 |
O95382 | DB12010 | Fostamatinib | Mitogen-activated protein kinase kinase kinase 6 | small molecule | approved|investigational |
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RelatedDiseases for MAP3K6 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |