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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 MAPK4 |
Gene summary |
Gene information | Gene symbol | MAPK4 | Gene ID | 5596 |
Gene name | mitogen-activated protein kinase 4 | |
Synonyms | ERK-4|ERK4|PRKM4|p63-MAPK|p63MAPK | |
Cytomap | 18q21.1-q21.2 | |
Type of gene | protein-coding | |
Description | mitogen-activated protein kinase 4Erk3-relatedMAP kinase isoform p63MAPK 4extracellular signal-regulated kinase 4 | |
Modification date | 20180523 | |
UniProtAcc | P31152 | |
Context | PubMed: MAPK4 [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 MAPK4 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 MAPK4 |
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 MAPK4 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_296850 | 18 | 48086511:48086613:48189458:48190874:48241448:48241593 | 48189458:48190874 | ENSG00000141639.7 | ENST00000592595.1 |
exon_skip_296853 | 18 | 48190668:48190874:48241448:48241593:48248307:48248469 | 48241448:48241593 | ENSG00000141639.7 | ENST00000400384.2 |
exon_skip_296854 | 18 | 48190668:48190874:48241448:48241593:48255527:48256471 | 48241448:48241593 | ENSG00000141639.7 | ENST00000592595.1 |
exon_skip_296856 | 18 | 48241448:48241593:48248307:48248469:48252331:48252545 | 48248307:48248469 | ENSG00000141639.7 | ENST00000400384.2,ENST00000540640.1 |
exon_skip_296860 | 18 | 48248307:48248469:48252331:48252545:48255527:48256471 | 48252331:48252545 | ENSG00000141639.7 | ENST00000400384.2,ENST00000540640.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAPK4 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_296850 | 18 | 48086511:48086613:48189458:48190874:48241448:48241593 | 48189458:48190874 | ENSG00000141639.7 | ENST00000592595.1 |
exon_skip_296853 | 18 | 48190668:48190874:48241448:48241593:48248307:48248469 | 48241448:48241593 | ENSG00000141639.7 | ENST00000400384.2 |
exon_skip_296854 | 18 | 48190668:48190874:48241448:48241593:48255527:48256471 | 48241448:48241593 | ENSG00000141639.7 | ENST00000592595.1 |
exon_skip_296856 | 18 | 48241448:48241593:48248307:48248469:48252331:48252545 | 48248307:48248469 | ENSG00000141639.7 | ENST00000400384.2,ENST00000540640.1 |
exon_skip_296860 | 18 | 48248307:48248469:48252331:48252545:48255527:48256471 | 48252331:48252545 | ENSG00000141639.7 | ENST00000400384.2,ENST00000540640.1 |
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 MAPK4 |
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 |
ENST00000400384 | 48241448 | 48241593 | Frame-shift |
ENST00000400384 | 48252331 | 48252545 | Frame-shift |
ENST00000400384 | 48248307 | 48248469 | 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 |
ENST00000400384 | 48241448 | 48241593 | Frame-shift |
ENST00000400384 | 48252331 | 48252545 | Frame-shift |
ENST00000400384 | 48248307 | 48248469 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAPK4 |
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 |
ENST00000400384 | 4787 | 587 | 48248307 | 48248469 | 1728 | 1889 | 230 | 284 |
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 |
ENST00000400384 | 4787 | 587 | 48248307 | 48248469 | 1728 | 1889 | 230 | 284 |
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 |
P31152 | 230 | 284 | 1 | 587 | Chain | ID=PRO_0000186254;Note=Mitogen-activated protein kinase 4 |
P31152 | 230 | 284 | 20 | 312 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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 |
P31152 | 230 | 284 | 1 | 587 | Chain | ID=PRO_0000186254;Note=Mitogen-activated protein kinase 4 |
P31152 | 230 | 284 | 20 | 312 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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SNVs in the skipped exons for MAPK4 |
- 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-A1EG-01 | exon_skip_296850 | 48189459 | 48190874 | 48190827 | 48190827 | Frame_Shift_Del | G | - | p.G167fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_296850 | 48189459 | 48190874 | 48190827 | 48190827 | Frame_Shift_Del | G | - | p.I166fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_296850 | 48189459 | 48190874 | 48190836 | 48190836 | Frame_Shift_Del | G | - | p.G170fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_296854 exon_skip_296853 | 48241449 | 48241593 | 48241507 | 48241507 | Frame_Shift_Del | C | - | p.S202fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_296860 | 48252332 | 48252545 | 48252393 | 48252393 | Frame_Shift_Del | G | - | p.M305fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_296860 | 48252332 | 48252545 | 48252405 | 48252405 | Frame_Shift_Del | C | - | p.H309fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_296860 | 48252332 | 48252545 | 48252429 | 48252429 | Frame_Shift_Del | C | - | p.C317fs |
LUAD | TCGA-64-1676-01 | exon_skip_296856 | 48248308 | 48248469 | 48248367 | 48248367 | Nonsense_Mutation | G | T | p.E251* |
HNSC | TCGA-CV-6933-01 | exon_skip_296860 | 48252332 | 48252545 | 48252451 | 48252451 | Nonsense_Mutation | C | T | p.Q325* |
LUAD | TCGA-91-6829-01 | exon_skip_296860 | 48252332 | 48252545 | 48252469 | 48252469 | Nonsense_Mutation | G | T | p.E331* |
- 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 |
CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48189459 | 48190874 | 48190472 | 48190474 | In_Frame_Del | GAA | - | p.K50del |
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48189459 | 48190874 | 48190353 | 48190353 | Missense_Mutation | G | A | p.A9T |
NCIH510_LUNG | 48189459 | 48190874 | 48190377 | 48190377 | Missense_Mutation | G | T | p.G17C |
HS821T_FIBROBLAST | 48189459 | 48190874 | 48190384 | 48190384 | Missense_Mutation | G | T | p.R19L |
NCIH1944_LUNG | 48189459 | 48190874 | 48190458 | 48190458 | Missense_Mutation | C | T | p.R44W |
NCIH250_LUNG | 48189459 | 48190874 | 48190463 | 48190463 | Missense_Mutation | G | T | p.K45N |
M00921_SKIN | 48189459 | 48190874 | 48190606 | 48190606 | Missense_Mutation | G | A | p.G93D |
CAL51_BREAST | 48189459 | 48190874 | 48190638 | 48190638 | Missense_Mutation | G | A | p.V104I |
RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48189459 | 48190874 | 48190669 | 48190669 | Missense_Mutation | G | A | p.R114H |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48189459 | 48190874 | 48190704 | 48190704 | Missense_Mutation | G | A | p.A126T |
LU134A_LUNG | 48189459 | 48190874 | 48190746 | 48190746 | Missense_Mutation | A | G | p.I140V |
SNU1040_LARGE_INTESTINE | 48189459 | 48190874 | 48190755 | 48190755 | Missense_Mutation | G | A | p.A143T |
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48189459 | 48190874 | 48190869 | 48190869 | Missense_Mutation | C | A | p.H181N |
HEC6_ENDOMETRIUM | 48241449 | 48241593 | 48241543 | 48241543 | Missense_Mutation | C | T | p.A214V |
SU8686_PANCREAS | 48248308 | 48248469 | 48248315 | 48248315 | Missense_Mutation | T | A | p.H233Q |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48248308 | 48248469 | 48248345 | 48248345 | Missense_Mutation | G | C | p.E243D |
SNU1040_LARGE_INTESTINE | 48248308 | 48248469 | 48248361 | 48248361 | Missense_Mutation | C | T | p.R249W |
EN_ENDOMETRIUM | 48248308 | 48248469 | 48248374 | 48248374 | Missense_Mutation | A | G | p.K253R |
KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48248308 | 48248469 | 48248379 | 48248379 | Missense_Mutation | G | C | p.E255Q |
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48248308 | 48248469 | 48248379 | 48248379 | Missense_Mutation | G | C | p.E255Q |
HEPG2_LIVER | 48248308 | 48248469 | 48248409 | 48248409 | Missense_Mutation | A | C | p.S265R |
C3A_LIVER | 48248308 | 48248469 | 48248409 | 48248409 | Missense_Mutation | A | C | p.S265R |
SW48_LARGE_INTESTINE | 48248308 | 48248469 | 48248451 | 48248451 | Missense_Mutation | C | T | p.P279S |
EW11_BONE | 48248308 | 48248469 | 48248451 | 48248451 | Missense_Mutation | C | A | p.P279T |
NB10_AUTONOMIC_GANGLIA | 48252332 | 48252545 | 48252351 | 48252351 | Missense_Mutation | G | T | p.K291N |
NCIH647_LUNG | 48252332 | 48252545 | 48252361 | 48252361 | Missense_Mutation | T | C | p.F295L |
COLO679_SKIN | 48252332 | 48252545 | 48252373 | 48252373 | Missense_Mutation | G | A | p.D299N |
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48252332 | 48252545 | 48252394 | 48252394 | Missense_Mutation | G | T | p.G306W |
SNGM_ENDOMETRIUM | 48252332 | 48252545 | 48252425 | 48252425 | Missense_Mutation | C | T | p.S316L |
OV7_OVARY | 48252332 | 48252545 | 48252449 | 48252449 | Missense_Mutation | C | T | p.S324L |
HEC151_ENDOMETRIUM | 48252332 | 48252545 | 48252490 | 48252490 | Missense_Mutation | G | A | p.V338M |
SNGM_ENDOMETRIUM | 48252332 | 48252545 | 48252500 | 48252500 | Missense_Mutation | C | T | p.A341V |
SW756_CERVIX | 48252332 | 48252545 | 48252502 | 48252502 | Missense_Mutation | G | A | p.A342T |
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48252332 | 48252545 | 48252530 | 48252530 | Missense_Mutation | A | G | p.D351G |
NCIH1793_LUNG | 48252332 | 48252545 | 48252531 | 48252531 | Missense_Mutation | C | A | p.D351E |
TE5_OESOPHAGUS | 48189459 | 48190874 | 48190677 | 48190677 | Nonsense_Mutation | G | T | p.E117* |
LS411N_LARGE_INTESTINE | 48241449 | 48241593 | 48241494 | 48241494 | Nonsense_Mutation | C | T | p.R198* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAPK4 |
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 MAPK4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAPK4 |
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RelatedDrugs for MAPK4 |
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 |
P31152 | DB12010 | Fostamatinib | Mitogen-activated protein kinase 4 | small molecule | approved|investigational |
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RelatedDiseases for MAPK4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |