|
||||||
|
 | |
| |
| |
| |
| 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 MAPK12 |
 Gene summary |
| Gene information | Gene symbol | MAPK12 | Gene ID | 6300 |
| Gene name | mitogen-activated protein kinase 12 | |
| Synonyms | ERK-6|ERK3|ERK6|MAPK 12|P38GAMMA|PRKM12|SAPK-3|SAPK3 | |
| Cytomap | 22q13.33 | |
| Type of gene | protein-coding | |
| Description | mitogen-activated protein kinase 12MAP kinase 12MAP kinase p38 gammaextracellular signal-regulated kinase 6mitogen-activated protein kinase 3mitogen-activated protein kinase p38 gammastress-activated protein kinase 3 | |
| Modification date | 20180523 | |
| UniProtAcc | P53778 | |
| Context | PubMed: MAPK12 [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 |
| MAPK12 | GO:0018105 | peptidyl-serine phosphorylation | 15850461 |
| MAPK12 | GO:0045445 | myoblast differentiation | 8633070 |
Top |
Exon skipping events across known transcript of Ensembl for MAPK12 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 MAPK12 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for MAPK12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENSG00000188130.9 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 |
| exon_skip_370533 | 22 | 50695027:50695075:50695216:50695393:50695510:50695622 | 50695216:50695393 | ENSG00000188130.9 | ENST00000467891.1,ENST00000488504.1 |
| exon_skip_370536 | 22 | 50695027:50695075:50695363:50695393:50695510:50695622 | 50695363:50695393 | ENSG00000188130.9 | ENST00000215659.8,ENST00000497036.1 |
| exon_skip_370538 | 22 | 50695027:50695075:50695510:50695622:50696671:50696730 | 50695510:50695622 | ENSG00000188130.9 | ENST00000395780.1 |
| exon_skip_370539 | 22 | 50695363:50695393:50695510:50695622:50696671:50696730 | 50695510:50695622 | ENSG00000188130.9 | ENST00000215659.8,ENST00000497036.1,ENST00000467891.1,ENST00000488504.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for MAPK12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENSG00000188130.9 | ENST00000497036.1,ENST00000395780.1,ENST00000488504.1,ENST00000215659.8,ENST00000467891.1,ENST00000482969.1 |
| exon_skip_370533 | 22 | 50695027:50695075:50695216:50695393:50695510:50695622 | 50695216:50695393 | ENSG00000188130.9 | ENST00000488504.1,ENST00000467891.1 |
| exon_skip_370536 | 22 | 50695027:50695075:50695363:50695393:50695510:50695622 | 50695363:50695393 | ENSG00000188130.9 | ENST00000497036.1,ENST00000215659.8 |
| exon_skip_370538 | 22 | 50695027:50695075:50695510:50695622:50696671:50696730 | 50695510:50695622 | ENSG00000188130.9 | ENST00000395780.1 |
| exon_skip_370539 | 22 | 50695363:50695393:50695510:50695622:50696671:50696730 | 50695510:50695622 | ENSG00000188130.9 | ENST00000497036.1,ENST00000488504.1,ENST00000215659.8,ENST00000467891.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MAPK12 |
| 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 |
| ENST00000215659 | 50695510 | 50695622 | Frame-shift |
| ENST00000215659 | 50694238 | 50694310 | In-frame |
| ENST00000215659 | 50695363 | 50695393 | 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 |
| ENST00000215659 | 50695510 | 50695622 | Frame-shift |
| ENST00000215659 | 50694238 | 50694310 | In-frame |
| ENST00000215659 | 50695363 | 50695393 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for MAPK12 |
| 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 |
| ENST00000215659 | 1935 | 367 | 50695363 | 50695393 | 743 | 772 | 142 | 152 |
| ENST00000215659 | 1935 | 367 | 50694238 | 50694310 | 936 | 1007 | 206 | 230 |
| 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 |
| ENST00000215659 | 1935 | 367 | 50695363 | 50695393 | 743 | 772 | 142 | 152 |
| ENST00000215659 | 1935 | 367 | 50694238 | 50694310 | 936 | 1007 | 206 | 230 |
| 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 |
| P53778 | 142 | 152 | 142 | 151 | Alternative sequence | ID=VSP_055224;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15461802;Dbxref=PMID:15461802 |
| P53778 | 142 | 152 | 1 | 367 | Chain | ID=PRO_0000186282;Note=Mitogen-activated protein kinase 12 |
| P53778 | 142 | 152 | 27 | 311 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P53778 | 142 | 152 | 127 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CM8 |
| P53778 | 206 | 230 | 1 | 367 | Chain | ID=PRO_0000186282;Note=Mitogen-activated protein kinase 12 |
| P53778 | 206 | 230 | 27 | 311 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P53778 | 206 | 230 | 207 | 221 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CM8 |
| P53778 | 206 | 230 | 230 | 230 | Natural variant | ID=VAR_042266;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35396905,PMID:17344846 |
| 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 |
| P53778 | 142 | 152 | 142 | 151 | Alternative sequence | ID=VSP_055224;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15461802;Dbxref=PMID:15461802 |
| P53778 | 142 | 152 | 1 | 367 | Chain | ID=PRO_0000186282;Note=Mitogen-activated protein kinase 12 |
| P53778 | 142 | 152 | 27 | 311 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P53778 | 142 | 152 | 127 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CM8 |
| P53778 | 206 | 230 | 1 | 367 | Chain | ID=PRO_0000186282;Note=Mitogen-activated protein kinase 12 |
| P53778 | 206 | 230 | 27 | 311 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P53778 | 206 | 230 | 207 | 221 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CM8 |
| P53778 | 206 | 230 | 230 | 230 | Natural variant | ID=VAR_042266;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35396905,PMID:17344846 |
Top |
SNVs in the skipped exons for MAPK12 |
| - 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-A3A1-01 | exon_skip_370528 | 50694239 | 50694310 | 50694269 | 50694269 | Frame_Shift_Del | T | - | p.T221fs |
| BLCA | TCGA-KQ-A41P-01 | exon_skip_370539 exon_skip_370538 | 50695511 | 50695622 | 50695570 | 50695570 | Nonsense_Mutation | C | A | p.E123* |
| UCEC | TCGA-B5-A11N-01 | exon_skip_370533 | 50695217 | 50695393 | 50695216 | 50695216 | Splice_Site | C | A | NULL |
| - 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 | 50695511 | 50695622 | 50695537 | 50695538 | Frame_Shift_Ins | - | G | p.V134fs |
| HEC108_ENDOMETRIUM | 50694239 | 50694310 | 50694259 | 50694259 | Missense_Mutation | G | A | p.T224M |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50694239 | 50694310 | 50694281 | 50694281 | Missense_Mutation | C | T | p.A217T |
| HEC108_ENDOMETRIUM | 50694239 | 50694310 | 50694282 | 50694282 | Missense_Mutation | C | T | p.M216I |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50694239 | 50694310 | 50694296 | 50694296 | Missense_Mutation | C | T | p.V212M |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAPK12 |
| 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_370533 | 22 | 50695027:50695075:50695216:50695393:50695510:50695622 | 50695216:50695393 | ENST00000467891.1,ENST00000488504.1 | KIRC | rs5771284 | chr22:50695270 | A/C | 6.67e-10 |
| exon_skip_370533 | 22 | 50695027:50695075:50695216:50695393:50695510:50695622 | 50695216:50695393 | ENST00000467891.1,ENST00000488504.1 | KIRC | rs5771284 | chr22:50695270 | A/C | 6.71e-10 |
| exon_skip_370533 | 22 | 50695027:50695075:50695216:50695393:50695510:50695622 | 50695216:50695393 | ENST00000467891.1,ENST00000488504.1 | PAAD | rs5771284 | chr22:50695270 | A/C | 6.63e-06 |
| exon_skip_370533 | 22 | 50695027:50695075:50695216:50695393:50695510:50695622 | 50695216:50695393 | ENST00000467891.1,ENST00000488504.1 | PAAD | rs5771284 | chr22:50695270 | A/C | 6.63e-06 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | LGG | rs1129880 | chr22:50694297 | A/G | 7.28e-69 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | LGG | rs1129880 | chr22:50694297 | A/G | 7.30e-69 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | LGG | rs1129880 | chr22:50694297 | A/G | 1.38e-06 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | KIRC | rs1129880 | chr22:50694297 | A/G | 6.19e-10 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | KIRC | rs1129880 | chr22:50694297 | A/G | 6.24e-10 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | PAAD | rs1129880 | chr22:50694297 | A/G | 2.90e-06 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | PAAD | rs1129880 | chr22:50694297 | A/G | 2.90e-06 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | PRAD | rs1129880 | chr22:50694297 | A/G | 1.77e-35 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | PRAD | rs1129880 | chr22:50694297 | A/G | 1.80e-35 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | TGCT | rs1129880 | chr22:50694297 | A/G | 6.51e-18 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | TGCT | rs1129880 | chr22:50694297 | A/G | 6.51e-18 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | THCA | rs1129880 | chr22:50694297 | A/G | 2.32e-17 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | THCA | rs1129880 | chr22:50694297 | A/G | 2.32e-17 |
| exon_skip_370528 | 22 | 50694043:50694123:50694238:50694310:50694513:50694628 | 50694238:50694310 | ENST00000215659.8,ENST00000482969.1,ENST00000497036.1,ENST00000467891.1,ENST00000395780.1,ENST00000488504.1 | UVM | rs1129880 | chr22:50694297 | A/G | 1.95e-04 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAPK12 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAPK12 |
Top |
RelatedDrugs for MAPK12 |
| 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 |
Top |
RelatedDiseases for MAPK12 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|