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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 MAP4K1 |
 Gene summary |
| Gene information | Gene symbol | MAP4K1 | Gene ID | 11184 |
| Gene name | mitogen-activated protein kinase kinase kinase kinase 1 | |
| Synonyms | HPK1 | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | mitogen-activated protein kinase kinase kinase kinase 1MAPK/ERK kinase kinase kinase 1MEK kinase kinase 1MEKKK 1hematopoietic progenitor kinase 1 | |
| Modification date | 20180527 | |
| UniProtAcc | Q92918 | |
| Context | PubMed: MAP4K1 [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 |
| MAP4K1 | GO:0006468 | protein phosphorylation | 8824585 |
| MAP4K1 | GO:0007257 | activation of JUN kinase activity | 8824585 |
| MAP4K1 | GO:0018105 | peptidyl-serine phosphorylation | 11053428|24362026 |
| MAP4K1 | GO:0046777 | protein autophosphorylation | 8824585|24362026 |
| MAP4K1 | GO:1904628 | cellular response to phorbol 13-acetate 12-myristate | 8824585 |
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Exon skipping events across known transcript of Ensembl for MAP4K1 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 MAP4K1 |
| 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 MAP4K1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318057 | 19 | 39078339:39078457:39079817:39079915:39083921:39083977 | 39079817:39079915 | ENSG00000104814.8 | ENST00000591517.1 |
| exon_skip_318060 | 19 | 39078339:39078457:39083089:39083137:39083921:39083977 | 39083089:39083137 | ENSG00000104814.8 | ENST00000593196.1 |
| exon_skip_318062 | 19 | 39078339:39078457:39083921:39083977:39086124:39086183 | 39083921:39083977 | ENSG00000104814.8 | ENST00000589130.1,ENST00000586296.1,ENST00000591921.1,ENST00000396857.2 |
| exon_skip_318063 | 19 | 39079817:39079915:39083921:39083977:39086124:39086183 | 39083921:39083977 | ENSG00000104814.8 | ENST00000591517.1 |
| exon_skip_318064 | 19 | 39086124:39086195:39086279:39086369:39086578:39086641 | 39086279:39086369 | ENSG00000104814.8 | ENST00000589130.1,ENST00000591921.1,ENST00000396857.2,ENST00000591517.1 |
| exon_skip_318075 | 19 | 39086279:39086369:39086578:39086641:39086951:39087123 | 39086578:39086641 | ENSG00000104814.8 | ENST00000589130.1,ENST00000591921.1,ENST00000588938.1,ENST00000396857.2,ENST00000591517.1 |
| exon_skip_318078 | 19 | 39087965:39088024:39088125:39088234:39090564:39090625 | 39088125:39088234 | ENSG00000104814.8 | ENST00000589130.1,ENST00000591921.1,ENST00000396857.2,ENST00000591517.1 |
| exon_skip_318080 | 19 | 39087987:39088234:39090564:39090625:39090716:39090793 | 39090564:39090625 | ENSG00000104814.8 | ENST00000589130.1,ENST00000591921.1,ENST00000396857.2,ENST00000591517.1 |
| exon_skip_318082 | 19 | 39087987:39088234:39090716:39090793:39092080:39092165 | 39090716:39090793 | ENSG00000104814.8 | ENST00000423454.2,ENST00000585583.1 |
| exon_skip_318084 | 19 | 39096048:39096131:39096207:39096370:39096812:39096855 | 39096207:39096370 | ENSG00000104814.8 | ENST00000589130.1,ENST00000423454.2,ENST00000591921.1,ENST00000585583.1,ENST00000396857.2,ENST00000591517.1 |
| exon_skip_318086 | 19 | 39098751:39098810:39100235:39100314:39100548:39100665 | 39100235:39100314 | ENSG00000104814.8 | ENST00000589130.1,ENST00000423454.2,ENST00000589002.1,ENST00000585583.1,ENST00000396857.2,ENST00000591517.1 |
| exon_skip_318088 | 19 | 39100548:39100665:39101690:39101772:39101882:39101945 | 39101690:39101772 | ENSG00000104814.8 | ENST00000589130.1,ENST00000586296.1,ENST00000396857.2,ENST00000591517.1 |
| exon_skip_318092 | 19 | 39104682:39104725:39104884:39104932:39105029:39105085 | 39104884:39104932 | ENSG00000104814.8 | ENST00000592225.1,ENST00000589130.1,ENST00000586296.1,ENST00000396857.2,ENST00000591517.1 |
| exon_skip_318097 | 19 | 39104884:39104932:39105029:39105085:39106834:39106899 | 39105029:39105085 | ENSG00000104814.8 | ENST00000589130.1,ENST00000586296.1,ENST00000588083.1,ENST00000396857.2,ENST00000591517.1 |
| exon_skip_318098 | 19 | 39106834:39106899:39107993:39108084:39108207:39108265 | 39107993:39108084 | ENSG00000104814.8 | ENST00000589130.1,ENST00000586296.1,ENST00000588083.1,ENST00000396857.2,ENST00000591517.1,ENST00000587300.1 |
| exon_skip_318101 | 19 | 39107993:39108084:39108207:39108265:39108436:39108485 | 39108207:39108265 | ENSG00000104814.8 | ENST00000589130.1,ENST00000586296.1,ENST00000588083.1,ENST00000396857.2,ENST00000591517.1,ENST00000587300.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAP4K1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318057 | 19 | 39078339:39078457:39079817:39079915:39083921:39083977 | 39079817:39079915 | ENSG00000104814.8 | ENST00000591517.1 |
| exon_skip_318060 | 19 | 39078339:39078457:39083089:39083137:39083921:39083977 | 39083089:39083137 | ENSG00000104814.8 | ENST00000593196.1 |
| exon_skip_318062 | 19 | 39078339:39078457:39083921:39083977:39086124:39086183 | 39083921:39083977 | ENSG00000104814.8 | ENST00000586296.1,ENST00000589130.1,ENST00000396857.2,ENST00000591921.1 |
| exon_skip_318063 | 19 | 39079817:39079915:39083921:39083977:39086124:39086183 | 39083921:39083977 | ENSG00000104814.8 | ENST00000591517.1 |
| exon_skip_318064 | 19 | 39086124:39086195:39086279:39086369:39086578:39086641 | 39086279:39086369 | ENSG00000104814.8 | ENST00000591517.1,ENST00000589130.1,ENST00000396857.2,ENST00000591921.1 |
| exon_skip_318075 | 19 | 39086279:39086369:39086578:39086641:39086951:39087123 | 39086578:39086641 | ENSG00000104814.8 | ENST00000591517.1,ENST00000589130.1,ENST00000396857.2,ENST00000591921.1,ENST00000588938.1 |
| exon_skip_318078 | 19 | 39087965:39088024:39088125:39088234:39090564:39090625 | 39088125:39088234 | ENSG00000104814.8 | ENST00000591517.1,ENST00000589130.1,ENST00000396857.2,ENST00000591921.1 |
| exon_skip_318080 | 19 | 39087987:39088234:39090564:39090625:39090716:39090793 | 39090564:39090625 | ENSG00000104814.8 | ENST00000591517.1,ENST00000589130.1,ENST00000396857.2,ENST00000591921.1 |
| exon_skip_318082 | 19 | 39087987:39088234:39090716:39090793:39092080:39092165 | 39090716:39090793 | ENSG00000104814.8 | ENST00000585583.1,ENST00000423454.2 |
| exon_skip_318084 | 19 | 39096048:39096131:39096207:39096370:39096812:39096855 | 39096207:39096370 | ENSG00000104814.8 | ENST00000591517.1,ENST00000589130.1,ENST00000396857.2,ENST00000591921.1,ENST00000585583.1,ENST00000423454.2 |
| exon_skip_318086 | 19 | 39098751:39098810:39100235:39100314:39100548:39100665 | 39100235:39100314 | ENSG00000104814.8 | ENST00000591517.1,ENST00000589130.1,ENST00000396857.2,ENST00000585583.1,ENST00000423454.2,ENST00000589002.1 |
| exon_skip_318088 | 19 | 39100548:39100665:39101690:39101772:39101882:39101945 | 39101690:39101772 | ENSG00000104814.8 | ENST00000591517.1,ENST00000586296.1,ENST00000589130.1,ENST00000396857.2 |
| exon_skip_318092 | 19 | 39104682:39104725:39104884:39104932:39105029:39105085 | 39104884:39104932 | ENSG00000104814.8 | ENST00000591517.1,ENST00000586296.1,ENST00000589130.1,ENST00000396857.2,ENST00000592225.1 |
| exon_skip_318097 | 19 | 39104884:39104932:39105029:39105085:39106834:39106899 | 39105029:39105085 | ENSG00000104814.8 | ENST00000591517.1,ENST00000586296.1,ENST00000589130.1,ENST00000396857.2,ENST00000588083.1 |
| exon_skip_318098 | 19 | 39106834:39106899:39107993:39108084:39108207:39108265 | 39107993:39108084 | ENSG00000104814.8 | ENST00000591517.1,ENST00000586296.1,ENST00000589130.1,ENST00000396857.2,ENST00000588083.1,ENST00000587300.1 |
| exon_skip_318101 | 19 | 39107993:39108084:39108207:39108265:39108436:39108485 | 39108207:39108265 | ENSG00000104814.8 | ENST00000591517.1,ENST00000586296.1,ENST00000589130.1,ENST00000396857.2,ENST00000588083.1,ENST00000587300.1 |
| 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 MAP4K1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for MAP4K1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for MAP4K1 |
| - 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_318078 | 39088126 | 39088234 | 39088142 | 39088142 | Frame_Shift_Del | G | - | p.H588fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_318084 | 39096208 | 39096370 | 39096301 | 39096301 | Frame_Shift_Del | C | - | p.V424fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_318084 | 39096208 | 39096370 | 39096306 | 39096306 | Frame_Shift_Del | G | - | p.P422fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_318084 | 39096208 | 39096370 | 39096325 | 39096325 | Frame_Shift_Del | C | - | p.D417fs |
| KIRP | TCGA-IA-A40U-01 | exon_skip_318088 | 39101691 | 39101772 | 39101749 | 39101755 | Frame_Shift_Del | ATGAAGT | - | p.249_251del |
| BLCA | TCGA-BT-A20W-01 | exon_skip_318064 | 39086280 | 39086369 | 39086328 | 39086328 | Nonsense_Mutation | C | A | p.G741* |
| BRCA | TCGA-AN-A0FD-01 | exon_skip_318078 | 39088126 | 39088234 | 39088180 | 39088180 | Nonsense_Mutation | T | A | p.R217* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_318080 | 39090565 | 39090625 | 39090565 | 39090565 | Nonsense_Mutation | C | A | p.G557* |
| READ | TCGA-AG-3592-01 | exon_skip_318088 | 39101691 | 39101772 | 39101717 | 39101717 | Nonsense_Mutation | G | A | p.R262X |
| DLBC | TCGA-G8-6906-01 | exon_skip_318088 | 39101691 | 39101772 | 39101772 | 39101772 | Nonsense_Mutation | C | T | p.W243X |
| SARC | TCGA-DX-A8BP-01 | exon_skip_318092 | 39104885 | 39104932 | 39104934 | 39104934 | Splice_Site | T | G | e6-2 |
| - 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 |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39096208 | 39096370 | 39096325 | 39096325 | Frame_Shift_Del | C | - | p.D417fs |
| C33A_CERVIX | 39100236 | 39100314 | 39100307 | 39100307 | Frame_Shift_Del | G | - | p.P312fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39083922 | 39083977 | 39083955 | 39083955 | Missense_Mutation | G | T | p.P788H |
| MZ7MEL_SKIN | 39086280 | 39086369 | 39086339 | 39086339 | Missense_Mutation | G | A | p.S737F |
| UMUC3_URINARY_TRACT | 39088126 | 39088234 | 39088145 | 39088145 | Missense_Mutation | G | A | p.P587S |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39088126 | 39088234 | 39088168 | 39088168 | Missense_Mutation | C | T | p.G579E |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39088126 | 39088234 | 39088168 | 39088168 | Missense_Mutation | C | T | p.G579E |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39090717 | 39090793 | 39090770 | 39090770 | Missense_Mutation | C | G | p.E519Q |
| MM386_SKIN | 39096208 | 39096370 | 39096259 | 39096259 | Missense_Mutation | G | A | p.R438C |
| SW684_SOFT_TISSUE | 39096208 | 39096370 | 39096259 | 39096259 | Missense_Mutation | G | A | p.R438C |
| NCIH513_PLEURA | 39096208 | 39096370 | 39096292 | 39096292 | Missense_Mutation | G | A | p.R427W |
| HCC2157_BREAST | 39096208 | 39096370 | 39096295 | 39096295 | Missense_Mutation | C | A | p.V426F |
| MCC142_SKIN | 39096208 | 39096370 | 39096303 | 39096304 | Missense_Mutation | CC | TT | p.G423K |
| WM983B_SKIN | 39096208 | 39096370 | 39096309 | 39096309 | Missense_Mutation | C | T | p.S421N |
| OE21_OESOPHAGUS | 39096208 | 39096370 | 39096325 | 39096325 | Missense_Mutation | C | G | p.D416H |
| SNU216_STOMACH | 39101691 | 39101772 | 39101728 | 39101728 | Missense_Mutation | C | T | p.S258N |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39101691 | 39101772 | 39101765 | 39101765 | Missense_Mutation | C | T | p.A246T |
| HEC251_ENDOMETRIUM | 39104885 | 39104932 | 39104906 | 39104906 | Missense_Mutation | C | A | p.K132N |
| OVK18_OVARY | 39105030 | 39105085 | 39105068 | 39105068 | Missense_Mutation | C | T | p.E111K |
| SW837_LARGE_INTESTINE | 39105030 | 39105085 | 39105076 | 39105076 | Missense_Mutation | G | C | p.S108C |
| CCK81_LARGE_INTESTINE | 39107994 | 39108084 | 39108028 | 39108028 | Missense_Mutation | C | T | p.A72T |
| HCC15_LUNG | 39090717 | 39090793 | 39090792 | 39090792 | Splice_Site | G | T | p.D511E |
| NCIH508_LARGE_INTESTINE | 39100236 | 39100314 | 39100314 | 39100314 | Splice_Site | G | T | p.L310I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP4K1 |
| 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 MAP4K1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP4K1 |
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RelatedDrugs for MAP4K1 |
| 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 |
| Q92918 | DB12010 | Fostamatinib | Mitogen-activated protein kinase kinase kinase kinase 1 | small molecule | approved|investigational |
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RelatedDiseases for MAP4K1 |
| 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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