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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 MLKL |
 Gene summary |
| Gene information | Gene symbol | MLKL | Gene ID | 197259 |
| Gene name | mixed lineage kinase domain like pseudokinase | |
| Synonyms | hMLKL | |
| Cytomap | 16q23.1 | |
| Type of gene | protein-coding | |
| Description | mixed lineage kinase domain-like protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q8NB16 | |
| Context | PubMed: MLKL [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 |
| MLKL | GO:0070207 | protein homotrimerization | 24316671 |
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Exon skipping events across known transcript of Ensembl for MLKL 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 MLKL |
| 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 MLKL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_146097 | 16 | 74709252:74709302:74709510:74709662:74712796:74712846 | 74709510:74709662 | ENSG00000168404.8 | ENST00000308807.7 |
| exon_skip_146101 | 16 | 74709515:74709662:74710198:74710323:74712796:74712846 | 74710198:74710323 | ENSG00000168404.8 | ENST00000571303.1 |
| exon_skip_146105 | 16 | 74709515:74709662:74712796:74712878:74716548:74716684 | 74712796:74712878 | ENSG00000168404.8 | ENST00000308807.7 |
| exon_skip_146108 | 16 | 74710198:74710323:74712796:74712878:74716548:74716684 | 74712796:74712878 | ENSG00000168404.8 | ENST00000571303.1 |
| exon_skip_146111 | 16 | 74712796:74712878:74716548:74716684:74719383:74719481 | 74716548:74716684 | ENSG00000168404.8 | ENST00000571303.1,ENST00000308807.7 |
| exon_skip_146113 | 16 | 74729195:74729657:74734350:74734440:74734580:74734858 | 74734350:74734440 | ENSG00000168404.8 | ENST00000573267.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MLKL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_146097 | 16 | 74709252:74709302:74709510:74709662:74712796:74712846 | 74709510:74709662 | ENSG00000168404.8 | ENST00000308807.7 |
| exon_skip_146101 | 16 | 74709515:74709662:74710198:74710323:74712796:74712846 | 74710198:74710323 | ENSG00000168404.8 | ENST00000571303.1 |
| exon_skip_146105 | 16 | 74709515:74709662:74712796:74712878:74716548:74716684 | 74712796:74712878 | ENSG00000168404.8 | ENST00000308807.7 |
| exon_skip_146108 | 16 | 74710198:74710323:74712796:74712878:74716548:74716684 | 74712796:74712878 | ENSG00000168404.8 | ENST00000571303.1 |
| exon_skip_146111 | 16 | 74712796:74712878:74716548:74716684:74719383:74719481 | 74716548:74716684 | ENSG00000168404.8 | ENST00000308807.7,ENST00000571303.1 |
| exon_skip_146113 | 16 | 74729195:74729657:74734350:74734440:74734580:74734858 | 74734350:74734440 | ENSG00000168404.8 | ENST00000573267.1 |
| 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 MLKL |
| 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 |
| ENST00000308807 | 74709510 | 74709662 | Frame-shift |
| ENST00000308807 | 74712796 | 74712878 | Frame-shift |
| ENST00000308807 | 74716548 | 74716684 | Frame-shift |
| 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 |
| ENST00000308807 | 74709510 | 74709662 | Frame-shift |
| ENST00000308807 | 74712796 | 74712878 | Frame-shift |
| ENST00000308807 | 74716548 | 74716684 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for MLKL |
| 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 MLKL |
| - 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 |
| LUAD | TCGA-55-8514-01 | exon_skip_146097 | 74709511 | 74709662 | 74709616 | 74709616 | Frame_Shift_Del | C | - | p.G362fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_146111 | 74716549 | 74716684 | 74716568 | 74716568 | Frame_Shift_Del | C | - | p.A314fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_146111 | 74716549 | 74716684 | 74716568 | 74716568 | Frame_Shift_Del | C | - | p.A314fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_146111 | 74716549 | 74716684 | 74716628 | 74716628 | Frame_Shift_Del | C | - | p.E293fs |
| - 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 |
| LS411N_LARGE_INTESTINE | 74709511 | 74709662 | 74709590 | 74709591 | Frame_Shift_Del | CT | - | p.RV370fs |
| HARA_LUNG | 74716549 | 74716684 | 74716579 | 74716579 | Frame_Shift_Del | A | - | p.L309fs |
| MEWO_SKIN | 74709511 | 74709662 | 74709560 | 74709560 | Missense_Mutation | C | T | p.E381K |
| SNU719_STOMACH | 74712797 | 74712878 | 74712803 | 74712803 | Missense_Mutation | T | G | p.Q344H |
| MEWO_SKIN | 74716549 | 74716684 | 74716570 | 74716570 | Missense_Mutation | C | T | p.G312E |
| HCC1143_BREAST | 74716549 | 74716684 | 74716583 | 74716583 | Missense_Mutation | C | A | p.V308F |
| JHUEM2_ENDOMETRIUM | 74716549 | 74716684 | 74716584 | 74716584 | Missense_Mutation | C | G | p.M307I |
| NCIH854_LUNG | 74716549 | 74716684 | 74716594 | 74716594 | Missense_Mutation | C | T | p.G304D |
| CW2_LARGE_INTESTINE | 74716549 | 74716684 | 74716630 | 74716630 | Missense_Mutation | C | T | p.R292K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MLKL |
| 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 MLKL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MLKL |
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RelatedDrugs for MLKL |
| 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 |
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RelatedDiseases for MLKL |
| 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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