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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 MSL1 |
 Gene summary |
| Gene information | Gene symbol | MSL1 | Gene ID | 339287 |
| Gene name | male specific lethal 1 homolog | |
| Synonyms | MSL-1|hMSL1 | |
| Cytomap | 17q21.1 | |
| Type of gene | protein-coding | |
| Description | male-specific lethal 1 homologMSL1-like 1male-specific lethal 1-like 1male-specific lethal-1 homolog 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q68DK7 | |
| Context | PubMed: MSL1 [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 |
| MSL1 | GO:0043984 | histone H4-K16 acetylation | 20018852 |
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Exon skipping events across known transcript of Ensembl for MSL1 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 MSL1 |
| 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 MSL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152365 | 17 | 38279537:38279633:38282435:38282659:38285497:38285513 | 38282435:38282659 | ENSG00000188895.7 | ENST00000579565.1,ENST00000577454.1,ENST00000578648.1 |
| exon_skip_152368 | 17 | 38285497:38285880:38287472:38287598:38287789:38287837 | 38287472:38287598 | ENSG00000188895.7 | ENST00000582884.1 |
| exon_skip_152372 | 17 | 38285497:38285880:38287789:38287837:38288286:38288295 | 38287789:38287837 | ENSG00000188895.7 | ENST00000579565.1,ENST00000398532.4 |
| exon_skip_152375 | 17 | 38289294:38289362:38289786:38289911:38290079:38290139 | 38289786:38289911 | ENSG00000188895.7 | ENST00000583127.1,ENST00000579565.1,ENST00000339569.5,ENST00000578648.1,ENST00000398532.4 |
| exon_skip_152376 | 17 | 38289786:38289911:38290079:38290152:38290531:38290703 | 38290079:38290152 | ENSG00000188895.7 | ENST00000580086.1,ENST00000579565.1,ENST00000339569.5,ENST00000578648.1,ENST00000398532.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MSL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152365 | 17 | 38279537:38279633:38282435:38282659:38285497:38285513 | 38282435:38282659 | ENSG00000188895.7 | ENST00000577454.1,ENST00000578648.1,ENST00000579565.1 |
| exon_skip_152368 | 17 | 38285497:38285880:38287472:38287598:38287789:38287837 | 38287472:38287598 | ENSG00000188895.7 | ENST00000582884.1 |
| exon_skip_152372 | 17 | 38285497:38285880:38287789:38287837:38288286:38288295 | 38287789:38287837 | ENSG00000188895.7 | ENST00000398532.4,ENST00000579565.1 |
| exon_skip_152375 | 17 | 38289294:38289362:38289786:38289911:38290079:38290139 | 38289786:38289911 | ENSG00000188895.7 | ENST00000398532.4,ENST00000578648.1,ENST00000579565.1,ENST00000339569.5,ENST00000583127.1 |
| exon_skip_152376 | 17 | 38289786:38289911:38290079:38290152:38290531:38290703 | 38290079:38290152 | ENSG00000188895.7 | ENST00000398532.4,ENST00000578648.1,ENST00000579565.1,ENST00000339569.5,ENST00000580086.1 |
| 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 MSL1 |
| 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 |
| ENST00000398532 | 38289786 | 38289911 | Frame-shift |
| ENST00000398532 | 38290079 | 38290152 | Frame-shift |
| ENST00000398532 | 38287789 | 38287837 | 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 |
| ENST00000398532 | 38289786 | 38289911 | Frame-shift |
| ENST00000398532 | 38290079 | 38290152 | Frame-shift |
| ENST00000398532 | 38287789 | 38287837 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MSL1 |
| 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 |
| ENST00000398532 | 4597 | 614 | 38287789 | 38287837 | 1691 | 1738 | 458 | 474 |
| 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 |
| ENST00000398532 | 4597 | 614 | 38287789 | 38287837 | 1691 | 1738 | 458 | 474 |
| 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 |
| Q68DK7 | 458 | 474 | 1 | 614 | Chain | ID=PRO_0000349236;Note=Male-specific lethal 1 homolog |
| 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 |
| Q68DK7 | 458 | 474 | 1 | 614 | Chain | ID=PRO_0000349236;Note=Male-specific lethal 1 homolog |
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SNVs in the skipped exons for MSL1 |
| - 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 |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_152365 | 38282436 | 38282659 | 38282534 | 38282535 | Frame_Shift_Del | AG | - | p.26_26del |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_152365 | 38282436 | 38282659 | 38282534 | 38282535 | Frame_Shift_Del | AG | - | p.E292fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_152365 | 38282436 | 38282659 | 38282534 | 38282535 | Frame_Shift_Del | AG | - | p.EE289fs |
| STAD | TCGA-BR-4201-01 | exon_skip_152365 | 38282436 | 38282659 | 38282534 | 38282535 | Frame_Shift_Del | AG | - | p.26_26del |
| STAD | TCGA-BR-4201-01 | exon_skip_152365 | 38282436 | 38282659 | 38282534 | 38282535 | Frame_Shift_Del | AG | - | p.E88fs |
| BLCA | TCGA-BT-A3PH-01 | exon_skip_152375 | 38289787 | 38289911 | 38289813 | 38289822 | Frame_Shift_Del | AAAGAATTTT | - | p.Q327fs |
| BLCA | TCGA-BT-A3PH-01 | exon_skip_152375 | 38289787 | 38289911 | 38289813 | 38289822 | Frame_Shift_Del | AAAGAATTTT | - | p.QRIL528fs |
| HNSC | TCGA-TN-A7HL-01 | exon_skip_152375 | 38289787 | 38289911 | 38289863 | 38289863 | Nonsense_Mutation | C | T | p.Q545* |
| STAD | TCGA-HU-A4H5-01 | exon_skip_152365 | 38282436 | 38282659 | 38282661 | 38282661 | Splice_Site | T | A | . |
| STAD | TCGA-HU-A4H5-01 | exon_skip_152365 | 38282436 | 38282659 | 38282661 | 38282661 | Splice_Site | T | A | p.R130_splice |
| - 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 |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 38282436 | 38282659 | 38282583 | 38282583 | Missense_Mutation | C | T | p.P306S |
| BEN_LUNG | 38287790 | 38287837 | 38287795 | 38287795 | Missense_Mutation | C | A | p.L461M |
| KE39_STOMACH | 38287790 | 38287837 | 38287813 | 38287813 | Missense_Mutation | G | C | p.A467P |
| MM386_SKIN | 38289787 | 38289911 | 38289896 | 38289896 | Missense_Mutation | C | T | p.P556S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 38290080 | 38290152 | 38290091 | 38290091 | Missense_Mutation | A | C | p.M565L |
| SKNEP1_BONE | 38290080 | 38290152 | 38290100 | 38290100 | Missense_Mutation | C | T | p.P568S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MSL1 |
| 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 MSL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MSL1 |
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RelatedDrugs for MSL1 |
| 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 MSL1 |
| 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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