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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 MAP4K4 |
 Gene summary |
| Gene information | Gene symbol | MAP4K4 | Gene ID | 9448 |
| Gene name | mitogen-activated protein kinase kinase kinase kinase 4 | |
| Synonyms | FLH21957|HEL-S-31|HGK|MEKKK4|NIK | |
| Cytomap | 2q11.2 | |
| Type of gene | protein-coding | |
| Description | mitogen-activated protein kinase kinase kinase kinase 4HPK/GCK-like kinase HGKMAPK/ERK kinase kinase kinase 4MEK kinase kinase 4Ste20 group protein kinase HGKepididymis secretory protein Li 31hepatocyte progenitor kinase-like/germinal center kinase- | |
| Modification date | 20180523 | |
| UniProtAcc | O95819 | |
| Context | PubMed: MAP4K4 [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 |
| MAP4K4 | GO:0006468 | protein phosphorylation | 9890973 |
| MAP4K4 | GO:0035556 | intracellular signal transduction | 9890973 |
| MAP4K4 | GO:0046328 | regulation of JNK cascade | 14966141 |
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Exon skipping events across known transcript of Ensembl for MAP4K4 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 MAP4K4 |
| 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 MAP4K4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328178 | 2 | 102314542:102314599:102314934:102315000:102407181:102407238 | 102314934:102315000 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000456652.1,ENST00000350198.4,ENST00000427603.1,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 |
| exon_skip_328179 | 2 | 102314991:102315000:102407181:102407238:102440389:102440515 | 102407181:102407238 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000456652.1,ENST00000350198.4,ENST00000427603.1,ENST00000417294.1,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 |
| exon_skip_328182 | 2 | 102445965:102446056:102448182:102448313:102450870:102450925 | 102448182:102448313 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000350198.4,ENST00000417294.1,ENST00000476609.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4 |
| exon_skip_328183 | 2 | 102450870:102450925:102452361:102452440:102456280:102456394 | 102452361:102452440 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000350198.4,ENST00000417294.1,ENST00000476609.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4 |
| exon_skip_328186 | 2 | 102452361:102452440:102456280:102456456:102459070:102459143 | 102456280:102456456 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000350198.4,ENST00000417294.1,ENST00000476609.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4 |
| exon_skip_328187 | 2 | 102456289:102456456:102459070:102459143:102460562:102460773 | 102459070:102459143 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000421882.1,ENST00000350198.4,ENST00000417294.1,ENST00000476609.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4 |
| exon_skip_328189 | 2 | 102460562:102460773:102472438:102472600:102475457:102475544 | 102472438:102472600 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000421882.1,ENST00000456652.1,ENST00000350198.4,ENST00000417294.1,ENST00000476609.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 |
| exon_skip_328209 | 2 | 102472581:102472600:102475457:102475544:102476104:102476326 | 102475457:102475544 | ENSG00000071054.11 | ENST00000347699.4,ENST00000421882.1,ENST00000456652.1,ENST00000418101.1,ENST00000324219.4,ENST00000302217.5 |
| exon_skip_328211 | 2 | 102472438:102472600:102475457:102475544:102476197:102476326 | 102475457:102475544 | ENSG00000071054.11 | ENST00000425019.1,ENST00000350198.4,ENST00000417294.1,ENST00000476609.1,ENST00000350878.4,ENST00000413150.2 |
| exon_skip_328223 | 2 | 102476197:102476326:102477286:102477448:102480282:102480513 | 102477286:102477448 | ENSG00000071054.11 | ENST00000421882.1,ENST00000324219.4 |
| exon_skip_328226 | 2 | 102476197:102476326:102477286:102477448:102481391:102481465 | 102477286:102477448 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000417294.1 |
| exon_skip_328227 | 2 | 102476197:102476326:102480282:102480513:102481391:102481465 | 102480282:102480513 | ENSG00000071054.11 | ENST00000418101.1,ENST00000350878.4 |
| exon_skip_328230 | 2 | 102477286:102477448:102480282:102480513:102481391:102481465 | 102480282:102480513 | ENSG00000071054.11 | ENST00000421882.1,ENST00000324219.4 |
| exon_skip_328233 | 2 | 102486756:102486877:102487955:102488147:102490108:102490226 | 102487955:102488147 | ENSG00000071054.11 | ENST00000425019.1,ENST00000350878.4 |
| exon_skip_328236 | 2 | 102490108:102490226:102490543:102490714:102493464:102493608 | 102490543:102490714 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000421882.1,ENST00000456652.1,ENST00000350198.4,ENST00000417294.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 |
| exon_skip_328237 | 2 | 102493464:102493608:102499012:102499147:102501648:102501749 | 102499012:102499147 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000421882.1,ENST00000456652.1,ENST00000350198.4,ENST00000417294.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 |
| exon_skip_328240 | 2 | 102499012:102499147:102501648:102501749:102503549:102503699 | 102501648:102501749 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000421882.1,ENST00000456652.1,ENST00000350198.4,ENST00000417294.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 |
| exon_skip_328242 | 2 | 102501648:102501749:102503549:102503699:102504239:102504399 | 102503549:102503699 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000421882.1,ENST00000456652.1,ENST00000417294.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 |
| exon_skip_328243 | 2 | 102501648:102501749:102503549:102503723:102504239:102504399 | 102503549:102503723 | ENSG00000071054.11 | ENST00000350198.4 |
| exon_skip_328245 | 2 | 102504239:102504399:102505257:102505397:102507627:102507783 | 102505257:102505397 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000421882.1,ENST00000456652.1,ENST00000350198.4,ENST00000417294.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAP4K4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328178 | 2 | 102314542:102314599:102314934:102315000:102407181:102407238 | 102314934:102315000 | ENSG00000071054.11 | ENST00000427603.1,ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000302217.5,ENST00000413150.2,ENST00000347699.4,ENST00000456652.1 |
| exon_skip_328179 | 2 | 102314991:102315000:102407181:102407238:102440389:102440515 | 102407181:102407238 | ENSG00000071054.11 | ENST00000427603.1,ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000302217.5,ENST00000413150.2,ENST00000347699.4,ENST00000456652.1,ENST00000417294.1 |
| exon_skip_328182 | 2 | 102445965:102446056:102448182:102448313:102450870:102450925 | 102448182:102448313 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000413150.2,ENST00000347699.4,ENST00000417294.1,ENST00000350878.4,ENST00000476609.1 |
| exon_skip_328183 | 2 | 102450870:102450925:102452361:102452440:102456280:102456394 | 102452361:102452440 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000413150.2,ENST00000347699.4,ENST00000417294.1,ENST00000350878.4,ENST00000476609.1 |
| exon_skip_328186 | 2 | 102452361:102452440:102456280:102456456:102459070:102459143 | 102456280:102456456 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000413150.2,ENST00000347699.4,ENST00000417294.1,ENST00000350878.4,ENST00000476609.1 |
| exon_skip_328187 | 2 | 102456289:102456456:102459070:102459143:102460562:102460773 | 102459070:102459143 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000413150.2,ENST00000347699.4,ENST00000417294.1,ENST00000350878.4,ENST00000476609.1,ENST00000421882.1 |
| exon_skip_328189 | 2 | 102460562:102460773:102472438:102472600:102475457:102475544 | 102472438:102472600 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000302217.5,ENST00000413150.2,ENST00000347699.4,ENST00000456652.1,ENST00000417294.1,ENST00000350878.4,ENST00000476609.1,ENST00000421882.1 |
| exon_skip_328209 | 2 | 102472581:102472600:102475457:102475544:102476104:102476326 | 102475457:102475544 | ENSG00000071054.11 | ENST00000324219.4,ENST00000302217.5,ENST00000347699.4,ENST00000456652.1,ENST00000421882.1,ENST00000418101.1 |
| exon_skip_328211 | 2 | 102472438:102472600:102475457:102475544:102476197:102476326 | 102475457:102475544 | ENSG00000071054.11 | ENST00000425019.1,ENST00000350198.4,ENST00000413150.2,ENST00000417294.1,ENST00000350878.4,ENST00000476609.1 |
| exon_skip_328223 | 2 | 102476197:102476326:102477286:102477448:102480282:102480513 | 102477286:102477448 | ENSG00000071054.11 | ENST00000324219.4,ENST00000421882.1 |
| exon_skip_328226 | 2 | 102476197:102476326:102477286:102477448:102481391:102481465 | 102477286:102477448 | ENSG00000071054.11 | ENST00000425019.1,ENST00000347699.4,ENST00000417294.1 |
| exon_skip_328227 | 2 | 102476197:102476326:102480282:102480513:102481391:102481465 | 102480282:102480513 | ENSG00000071054.11 | ENST00000350878.4,ENST00000418101.1 |
| exon_skip_328230 | 2 | 102477286:102477448:102480282:102480513:102481391:102481465 | 102480282:102480513 | ENSG00000071054.11 | ENST00000324219.4,ENST00000421882.1 |
| exon_skip_328233 | 2 | 102486756:102486877:102487955:102488147:102490108:102490226 | 102487955:102488147 | ENSG00000071054.11 | ENST00000425019.1,ENST00000350878.4 |
| exon_skip_328236 | 2 | 102490108:102490226:102490543:102490714:102493464:102493608 | 102490543:102490714 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000302217.5,ENST00000413150.2,ENST00000347699.4,ENST00000456652.1,ENST00000417294.1,ENST00000350878.4,ENST00000421882.1 |
| exon_skip_328237 | 2 | 102493464:102493608:102499012:102499147:102501648:102501749 | 102499012:102499147 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000302217.5,ENST00000413150.2,ENST00000347699.4,ENST00000456652.1,ENST00000417294.1,ENST00000350878.4,ENST00000421882.1 |
| exon_skip_328240 | 2 | 102499012:102499147:102501648:102501749:102503549:102503699 | 102501648:102501749 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000302217.5,ENST00000413150.2,ENST00000347699.4,ENST00000456652.1,ENST00000417294.1,ENST00000350878.4,ENST00000421882.1 |
| exon_skip_328242 | 2 | 102501648:102501749:102503549:102503699:102504239:102504399 | 102503549:102503699 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000302217.5,ENST00000413150.2,ENST00000347699.4,ENST00000456652.1,ENST00000417294.1,ENST00000350878.4,ENST00000421882.1 |
| exon_skip_328243 | 2 | 102501648:102501749:102503549:102503723:102504239:102504399 | 102503549:102503723 | ENSG00000071054.11 | ENST00000350198.4 |
| exon_skip_328245 | 2 | 102504239:102504399:102505257:102505397:102507627:102507783 | 102505257:102505397 | ENSG00000071054.11 | ENST00000425019.1,ENST00000324219.4,ENST00000350198.4,ENST00000302217.5,ENST00000413150.2,ENST00000347699.4,ENST00000456652.1,ENST00000417294.1,ENST00000350878.4,ENST00000421882.1 |
| 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 MAP4K4 |
| 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 |
| ENST00000347699 | 102448182 | 102448313 | Frame-shift |
| ENST00000347699 | 102452361 | 102452440 | Frame-shift |
| ENST00000347699 | 102456280 | 102456456 | Frame-shift |
| ENST00000347699 | 102459070 | 102459143 | Frame-shift |
| ENST00000347699 | 102501648 | 102501749 | Frame-shift |
| ENST00000347699 | 102505257 | 102505397 | Frame-shift |
| ENST00000347699 | 102314934 | 102315000 | In-frame |
| ENST00000347699 | 102407181 | 102407238 | In-frame |
| ENST00000347699 | 102472438 | 102472600 | In-frame |
| ENST00000347699 | 102475457 | 102475544 | In-frame |
| ENST00000347699 | 102477286 | 102477448 | In-frame |
| ENST00000347699 | 102490543 | 102490714 | In-frame |
| ENST00000347699 | 102499012 | 102499147 | In-frame |
| ENST00000347699 | 102503549 | 102503699 | 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 |
| ENST00000347699 | 102448182 | 102448313 | Frame-shift |
| ENST00000347699 | 102452361 | 102452440 | Frame-shift |
| ENST00000347699 | 102456280 | 102456456 | Frame-shift |
| ENST00000347699 | 102459070 | 102459143 | Frame-shift |
| ENST00000347699 | 102501648 | 102501749 | Frame-shift |
| ENST00000347699 | 102505257 | 102505397 | Frame-shift |
| ENST00000347699 | 102314934 | 102315000 | In-frame |
| ENST00000347699 | 102407181 | 102407238 | In-frame |
| ENST00000347699 | 102472438 | 102472600 | In-frame |
| ENST00000347699 | 102475457 | 102475544 | In-frame |
| ENST00000347699 | 102477286 | 102477448 | In-frame |
| ENST00000347699 | 102490543 | 102490714 | In-frame |
| ENST00000347699 | 102499012 | 102499147 | In-frame |
| ENST00000347699 | 102503549 | 102503699 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAP4K4 |
| 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 |
| ENST00000347699 | 3809 | 1239 | 102314934 | 102315000 | 58 | 123 | 19 | 41 |
| ENST00000347699 | 3809 | 1239 | 102407181 | 102407238 | 124 | 180 | 41 | 60 |
| ENST00000347699 | 3809 | 1239 | 102472438 | 102472600 | 1234 | 1395 | 411 | 465 |
| ENST00000347699 | 3809 | 1239 | 102475457 | 102475544 | 1396 | 1482 | 465 | 494 |
| ENST00000347699 | 3809 | 1239 | 102477286 | 102477448 | 1705 | 1866 | 568 | 622 |
| ENST00000347699 | 3809 | 1239 | 102490543 | 102490714 | 2636 | 2806 | 878 | 935 |
| ENST00000347699 | 3809 | 1239 | 102499012 | 102499147 | 2951 | 3085 | 983 | 1028 |
| ENST00000347699 | 3809 | 1239 | 102503549 | 102503699 | 3187 | 3336 | 1062 | 1112 |
| 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 |
| ENST00000347699 | 3809 | 1239 | 102314934 | 102315000 | 58 | 123 | 19 | 41 |
| ENST00000347699 | 3809 | 1239 | 102407181 | 102407238 | 124 | 180 | 41 | 60 |
| ENST00000347699 | 3809 | 1239 | 102472438 | 102472600 | 1234 | 1395 | 411 | 465 |
| ENST00000347699 | 3809 | 1239 | 102475457 | 102475544 | 1396 | 1482 | 465 | 494 |
| ENST00000347699 | 3809 | 1239 | 102477286 | 102477448 | 1705 | 1866 | 568 | 622 |
| ENST00000347699 | 3809 | 1239 | 102490543 | 102490714 | 2636 | 2806 | 878 | 935 |
| ENST00000347699 | 3809 | 1239 | 102499012 | 102499147 | 2951 | 3085 | 983 | 1028 |
| ENST00000347699 | 3809 | 1239 | 102503549 | 102503699 | 3187 | 3336 | 1062 | 1112 |
| 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 |
| O95819 | 19 | 41 | 25 | 33 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 19 | 41 | 35 | 44 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 19 | 41 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 19 | 41 | 25 | 289 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O95819 | 19 | 41 | 31 | 39 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O95819 | 19 | 41 | 22 | 24 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 41 | 60 | 35 | 44 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 41 | 60 | 50 | 58 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 41 | 60 | 54 | 54 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O95819 | 41 | 60 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 41 | 60 | 25 | 289 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O95819 | 41 | 60 | 45 | 47 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 41 | 60 | 60 | 62 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZP5 |
| O95819 | 411 | 465 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 465 | 494 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 568 | 622 | 569 | 622 | Alternative sequence | ID=VSP_007055;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9890973;Dbxref=PMID:9890973 |
| O95819 | 568 | 622 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 878 | 935 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 878 | 935 | 926 | 1213 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
| O95819 | 878 | 935 | 900 | 900 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195 |
| O95819 | 878 | 935 | 913 | 913 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O95819 | 878 | 935 | 858 | 1212 | Region | Note=Mediates interaction with RAP2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14966141;Dbxref=PMID:14966141 |
| O95819 | 983 | 1028 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 983 | 1028 | 926 | 1213 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
| O95819 | 983 | 1028 | 858 | 1212 | Region | Note=Mediates interaction with RAP2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14966141;Dbxref=PMID:14966141 |
| O95819 | 1062 | 1112 | 1112 | 1112 | Alternative sequence | ID=VSP_007058;Note=In isoform 4 and isoform 5. H->HVRKNPHSM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9890973;Dbxref=PMID:9890973 |
| O95819 | 1062 | 1112 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 1062 | 1112 | 926 | 1213 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
| O95819 | 1062 | 1112 | 858 | 1212 | Region | Note=Mediates interaction with RAP2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14966141;Dbxref=PMID:14966141 |
| 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 |
| O95819 | 19 | 41 | 25 | 33 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 19 | 41 | 35 | 44 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 19 | 41 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 19 | 41 | 25 | 289 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O95819 | 19 | 41 | 31 | 39 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O95819 | 19 | 41 | 22 | 24 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 41 | 60 | 35 | 44 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 41 | 60 | 50 | 58 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 41 | 60 | 54 | 54 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O95819 | 41 | 60 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 41 | 60 | 25 | 289 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O95819 | 41 | 60 | 45 | 47 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U3Y |
| O95819 | 41 | 60 | 60 | 62 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZP5 |
| O95819 | 411 | 465 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 465 | 494 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 568 | 622 | 569 | 622 | Alternative sequence | ID=VSP_007055;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9890973;Dbxref=PMID:9890973 |
| O95819 | 568 | 622 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 878 | 935 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 878 | 935 | 926 | 1213 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
| O95819 | 878 | 935 | 900 | 900 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195 |
| O95819 | 878 | 935 | 913 | 913 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O95819 | 878 | 935 | 858 | 1212 | Region | Note=Mediates interaction with RAP2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14966141;Dbxref=PMID:14966141 |
| O95819 | 983 | 1028 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 983 | 1028 | 926 | 1213 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
| O95819 | 983 | 1028 | 858 | 1212 | Region | Note=Mediates interaction with RAP2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14966141;Dbxref=PMID:14966141 |
| O95819 | 1062 | 1112 | 1112 | 1112 | Alternative sequence | ID=VSP_007058;Note=In isoform 4 and isoform 5. H->HVRKNPHSM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9890973;Dbxref=PMID:9890973 |
| O95819 | 1062 | 1112 | 2 | 1239 | Chain | ID=PRO_0000086280;Note=Mitogen-activated protein kinase kinase kinase kinase 4 |
| O95819 | 1062 | 1112 | 926 | 1213 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
| O95819 | 1062 | 1112 | 858 | 1212 | Region | Note=Mediates interaction with RAP2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14966141;Dbxref=PMID:14966141 |
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SNVs in the skipped exons for MAP4K4 |
| - 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. |
MAP4K4_SKCM_exon_skip_328236_psi_boxplot.png |
| - 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-A39Y-01 | exon_skip_328182 | 102448183 | 102448313 | 102448220 | 102448220 | Frame_Shift_Del | G | - | p.V182fs |
| STAD | TCGA-KB-A93J-01 | exon_skip_328182 | 102448183 | 102448313 | 102448263 | 102448275 | Frame_Shift_Del | CCTGAGGTCATCG | - | p.PEVIA197fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_328183 | 102452362 | 102452440 | 102452432 | 102452432 | Frame_Shift_Del | A | - | p.S255fs |
| STAD | TCGA-CG-5728-01 | exon_skip_328183 | 102452362 | 102452440 | 102452432 | 102452433 | Frame_Shift_Del | AA | - | p.255_255del |
| UCEC | TCGA-D1-A163-01 | exon_skip_328183 | 102452362 | 102452440 | 102452432 | 102452432 | Frame_Shift_Del | A | - | p.S255fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328237 | 102499013 | 102499147 | 102499119 | 102499119 | Frame_Shift_Del | T | - | p.D934fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_328237 | 102499013 | 102499147 | 102499141 | 102499141 | Frame_Shift_Del | A | - | p.K942fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328242 | 102503550 | 102503699 | 102503553 | 102503553 | Frame_Shift_Del | T | - | p.F979fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328243 | 102503550 | 102503723 | 102503553 | 102503553 | Frame_Shift_Del | T | - | p.F979fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_328243 | 102503550 | 102503723 | 102503705 | 102503705 | Frame_Shift_Del | A | - | p.R1033fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_328243 | 102503550 | 102503723 | 102503711 | 102503711 | Frame_Shift_Del | C | - | p.N1035fs |
| COAD | TCGA-D5-6928-01 | exon_skip_328245 | 102505258 | 102505397 | 102505288 | 102505288 | Frame_Shift_Del | G | - | p.W1102fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328245 | 102505258 | 102505397 | 102505353 | 102505353 | Frame_Shift_Del | A | - | p.K1113fs |
| PAAD | TCGA-IB-7889-01 | exon_skip_328178 | 102314935 | 102315000 | 102314997 | 102314998 | Frame_Shift_Ins | - | A | p.G41fs |
| PAAD | TCGA-IB-7889-01 | exon_skip_328178 | 102314935 | 102315000 | 102314997 | 102314998 | Frame_Shift_Ins | - | A | p.K41fs |
| PAAD | TCGA-IB-7889-01 | exon_skip_328178 | 102314935 | 102315000 | 102314997 | 102314998 | Frame_Shift_Ins | - | A | p.Y40fs |
| UCEC | TCGA-BS-A0UJ-01 | exon_skip_328183 | 102452362 | 102452440 | 102452423 | 102452424 | Frame_Shift_Ins | - | CT | p.K253fs |
| STAD | TCGA-BR-4362-01 | exon_skip_328183 | 102452362 | 102452440 | 102452431 | 102452432 | Frame_Shift_Ins | - | A | p.S255fs |
| STAD | TCGA-BR-7851-01 | exon_skip_328183 | 102452362 | 102452440 | 102452431 | 102452432 | Frame_Shift_Ins | - | A | p.S255fs |
| STAD | TCGA-BR-4362-01 | exon_skip_328183 | 102452362 | 102452440 | 102452432 | 102452433 | Frame_Shift_Ins | - | A | p.S255fs |
| LUSC | TCGA-46-3768-01 | exon_skip_328178 | 102314935 | 102315000 | 102314986 | 102314986 | Nonsense_Mutation | G | T | p.G37* |
| SKCM | TCGA-EE-A2A2-06 | exon_skip_328179 | 102407182 | 102407238 | 102407207 | 102407207 | Nonsense_Mutation | T | A | p.L50* |
| LUSC | TCGA-22-5473-01 | exon_skip_328186 | 102456281 | 102456456 | 102456381 | 102456381 | Nonsense_Mutation | C | T | p.Q292* |
| COAD | TCGA-CK-5913-01 | exon_skip_328189 | 102472439 | 102472600 | 102472487 | 102472487 | Nonsense_Mutation | C | T | p.R428X |
| SKCM | TCGA-EB-A431-01 | exon_skip_328242 | 102503550 | 102503699 | 102503607 | 102503607 | Nonsense_Mutation | C | T | p.Q1082X |
| SKCM | TCGA-EB-A431-01 | exon_skip_328243 | 102503550 | 102503723 | 102503607 | 102503607 | Nonsense_Mutation | C | T | p.Q1082X |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_328245 | 102505258 | 102505397 | 102505311 | 102505311 | Nonsense_Mutation | C | T | p.R1099* |
| SKCM | TCGA-YD-A89C-06 | exon_skip_328245 | 102505258 | 102505397 | 102505311 | 102505311 | Nonsense_Mutation | C | T | p.R1099* |
| LIHC | TCGA-DD-AAVX-01 | exon_skip_328223 exon_skip_328226 | 102477287 | 102477448 | 102477449 | 102477449 | Splice_Site | G | T | . |
| SKCM | TCGA-EE-A2GJ-06 | exon_skip_328236 | 102490544 | 102490714 | 102490542 | 102490542 | Splice_Site | A | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A2GJ-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_328236 | |
| Skipped exon start: 102490544 | |
| Skipped exon end: 102490714 | |
| Mutation start: 102490542 | |
| Mutation end: 102490542 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: C | |
| AAchange: . | |
exon_skip_328236_SKCM_TCGA-EE-A2GJ-06.png | |
exon_skip_455401_SKCM_TCGA-EE-A2GJ-06.png | |
 | Sample: TCGA-DD-AAVX-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_328226 | |
| Skipped exon start: 102477287 | |
| Skipped exon end: 102477448 | |
| Mutation start: 102477449 | |
| Mutation end: 102477449 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_328226_LIHC_TCGA-DD-AAVX-01.png | |
| - 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 |
| HEC265_ENDOMETRIUM | 102499013 | 102499147 | 102499015 | 102499015 | Frame_Shift_Del | A | - | p.K986fs |
| CW2_LARGE_INTESTINE | 102452362 | 102452440 | 102452431 | 102452432 | Frame_Shift_Ins | - | A | p.SK255fs |
| MELJUSO_SKIN | 102448183 | 102448313 | 102448260 | 102448260 | Missense_Mutation | G | A | p.A196T |
| SW1271_LUNG | 102452362 | 102452440 | 102452364 | 102452364 | Missense_Mutation | C | G | p.L233V |
| OC316_OVARY | 102456281 | 102456456 | 102456309 | 102456309 | Missense_Mutation | G | A | p.G268R |
| OC314_OVARY | 102456281 | 102456456 | 102456309 | 102456309 | Missense_Mutation | G | A | p.G268R |
| BHT101_THYROID | 102456281 | 102456456 | 102456392 | 102456392 | Missense_Mutation | A | T | p.E295D |
| HEC251_ENDOMETRIUM | 102456281 | 102456456 | 102456412 | 102456412 | Missense_Mutation | T | G | p.L302R |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102456281 | 102456456 | 102456448 | 102456448 | Missense_Mutation | G | A | p.G314D |
| NB5_AUTONOMIC_GANGLIA | 102472439 | 102472600 | 102472486 | 102472486 | Missense_Mutation | G | C | p.Q427H |
| NCIH630_LARGE_INTESTINE | 102472439 | 102472600 | 102472560 | 102472560 | Missense_Mutation | G | A | p.R452K |
| RL952_ENDOMETRIUM | 102472439 | 102472600 | 102472563 | 102472563 | Missense_Mutation | G | A | p.R453Q |
| NCIH2347_LUNG | 102475458 | 102475544 | 102475471 | 102475471 | Missense_Mutation | G | T | p.R470L |
| HEC1A_ENDOMETRIUM | 102475458 | 102475544 | 102475492 | 102475492 | Missense_Mutation | G | A | p.R477Q |
| HEC1_ENDOMETRIUM | 102475458 | 102475544 | 102475492 | 102475492 | Missense_Mutation | G | A | p.R477Q |
| HEC1B_ENDOMETRIUM | 102475458 | 102475544 | 102475492 | 102475492 | Missense_Mutation | G | A | p.R477Q |
| JHUEM7_ENDOMETRIUM | 102477287 | 102477448 | 102477387 | 102477387 | Missense_Mutation | C | A | p.S602Y |
| A498_KIDNEY | 102477287 | 102477448 | 102477417 | 102477417 | Missense_Mutation | A | T | p.H612L |
| SNU1040_LARGE_INTESTINE | 102477287 | 102477448 | 102477422 | 102477422 | Missense_Mutation | G | A | p.A614T |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102490544 | 102490714 | 102490564 | 102490564 | Missense_Mutation | A | C | p.M886L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 102490544 | 102490714 | 102490564 | 102490564 | Missense_Mutation | A | C | p.M886L |
| S117_SOFT_TISSUE | 102490544 | 102490714 | 102490564 | 102490564 | Missense_Mutation | A | C | p.M886L |
| LOVO_LARGE_INTESTINE | 102490544 | 102490714 | 102490597 | 102490597 | Missense_Mutation | C | T | p.R897W |
| NCIH630_LARGE_INTESTINE | 102499013 | 102499147 | 102499030 | 102499030 | Missense_Mutation | C | T | p.R990C |
| HEC59_ENDOMETRIUM | 102499013 | 102499147 | 102499075 | 102499075 | Missense_Mutation | G | A | p.D1005N |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102499013 | 102499147 | 102499084 | 102499084 | Missense_Mutation | G | T | p.V1008F |
| SLR24_KIDNEY | 102501649 | 102501749 | 102501706 | 102501706 | Missense_Mutation | A | G | p.Y1048C |
| LIM1215_LARGE_INTESTINE | 102501649 | 102501749 | 102501709 | 102501709 | Missense_Mutation | C | T | p.A1049V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 102503550 | 102503723 | 102503565 | 102503565 | Missense_Mutation | G | C | p.V1068L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 102503550 | 102503699 | 102503565 | 102503565 | Missense_Mutation | G | C | p.V1068L |
| S117_SOFT_TISSUE | 102503550 | 102503723 | 102503565 | 102503565 | Missense_Mutation | G | C | p.V1068L |
| S117_SOFT_TISSUE | 102503550 | 102503699 | 102503565 | 102503565 | Missense_Mutation | G | C | p.V1068L |
| ASH3_THYROID | 102505258 | 102505397 | 102505312 | 102505312 | Missense_Mutation | G | T | p.R1184L |
| NCIH1417_LUNG | 102505258 | 102505397 | 102505314 | 102505314 | Missense_Mutation | T | A | p.S1185T |
| HEC1_ENDOMETRIUM | 102505258 | 102505397 | 102505311 | 102505311 | Nonsense_Mutation | C | T | p.R1184* |
| SARC9371_BONE | 102505258 | 102505397 | 102505311 | 102505311 | Nonsense_Mutation | C | T | p.R1184* |
| 253J_URINARY_TRACT | 102314935 | 102315000 | 102314999 | 102314999 | Splice_Site | A | T | p.K41M |
| 253JBV_URINARY_TRACT | 102314935 | 102315000 | 102314999 | 102314999 | Splice_Site | A | T | p.K41M |
| MELJUSO_SKIN | 102452362 | 102452440 | 102452440 | 102452440 | Splice_Site | G | A | p.W258* |
| GP2D_LARGE_INTESTINE | 102472439 | 102472600 | 102472440 | 102472440 | Splice_Site | A | G | p.Q412R |
| GP5D_LARGE_INTESTINE | 102472439 | 102472600 | 102472440 | 102472440 | Splice_Site | A | G | p.Q412R |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102490544 | 102490714 | 102490544 | 102490544 | Splice_Site | T | A | p.V879E |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 102499013 | 102499147 | 102499146 | 102499146 | Splice_Site | T | C | p.V1028V |
| U2OS_BONE | 102499013 | 102499147 | 102499147 | 102499147 | Splice_Site | G | A | p.V1029I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 102503550 | 102503723 | 102503699 | 102503699 | Splice_Site | T | C | p.H1112H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 102503550 | 102503699 | 102503699 | 102503699 | Splice_Site | T | C | p.H1112H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP4K4 |
| 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_328189 | 2 | 102460562:102460773:102472438:102472600:102475457:102475544 | 102472438:102472600 | ENST00000425019.1,ENST00000347699.4,ENST00000421882.1,ENST00000456652.1,ENST00000350198.4,ENST00000417294.1,ENST00000476609.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 | BRCA | rs1139583 | chr2:102472459 | A/G | 8.28e-04 |
| exon_skip_328189 | 2 | 102460562:102460773:102472438:102472600:102475457:102475544 | 102472438:102472600 | ENST00000425019.1,ENST00000347699.4,ENST00000421882.1,ENST00000456652.1,ENST00000350198.4,ENST00000417294.1,ENST00000476609.1,ENST00000350878.4,ENST00000413150.2,ENST00000324219.4,ENST00000302217.5 | BRCA | rs1139583 | chr2:102472459 | A/G | 2.27e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP4K4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP4K4 |
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RelatedDrugs for MAP4K4 |
| 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 |
| O95819 | DB12010 | Fostamatinib | Mitogen-activated protein kinase kinase kinase kinase 4 | small molecule | approved|investigational |
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RelatedDiseases for MAP4K4 |
| 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)
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