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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 MAL |
 Gene summary |
| Gene information | Gene symbol | MAL | Gene ID | 4118 |
| Gene name | mal, T cell differentiation protein | |
| Synonyms | MVP17|VIP17 | |
| Cytomap | 2q11.1 | |
| Type of gene | protein-coding | |
| Description | myelin and lymphocyte proteinT-lymphocyte maturation-associated protein | |
| Modification date | 20180525 | |
| UniProtAcc | P21145 | |
| Context | PubMed: MAL [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 |
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Exon skipping events across known transcript of Ensembl for MAL 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 MAL |
| 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 MAL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_327561 | 2 | 95691537:95691630:95713703:95713871:95715325:95715448 | 95713703:95713871 | ENSG00000172005.6 | ENST00000309988.4 |
| exon_skip_327567 | 2 | 95691537:95691630:95713703:95713871:95719125:95719737 | 95713703:95713871 | ENSG00000172005.6 | ENST00000353004.3 |
| exon_skip_327572 | 2 | 95691537:95691630:95715325:95715451:95719125:95719737 | 95715325:95715451 | ENSG00000172005.6 | ENST00000354078.3 |
| exon_skip_327585 | 2 | 95713703:95713871:95715325:95715451:95719125:95719737 | 95715325:95715451 | ENSG00000172005.6 | ENST00000309988.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_327561 | 2 | 95691537:95691630:95713703:95713871:95715325:95715448 | 95713703:95713871 | ENSG00000172005.6 | ENST00000309988.4 |
| exon_skip_327567 | 2 | 95691537:95691630:95713703:95713871:95719125:95719737 | 95713703:95713871 | ENSG00000172005.6 | ENST00000353004.3 |
| exon_skip_327572 | 2 | 95691537:95691630:95715325:95715451:95719125:95719737 | 95715325:95715451 | ENSG00000172005.6 | ENST00000354078.3 |
| exon_skip_327585 | 2 | 95713703:95713871:95715325:95715451:95719125:95719737 | 95715325:95715451 | ENSG00000172005.6 | ENST00000309988.4 |
| 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 MAL |
| 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 |
| ENST00000309988 | 95713703 | 95713871 | In-frame |
| ENST00000309988 | 95715325 | 95715451 | 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 |
| ENST00000309988 | 95713703 | 95713871 | In-frame |
| ENST00000309988 | 95715325 | 95715451 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAL |
| 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 |
| ENST00000309988 | 1125 | 153 | 95713703 | 95713871 | 203 | 370 | 31 | 87 |
| ENST00000309988 | 1125 | 153 | 95715325 | 95715451 | 371 | 496 | 87 | 129 |
| 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 |
| ENST00000309988 | 1125 | 153 | 95713703 | 95713871 | 203 | 370 | 31 | 87 |
| ENST00000309988 | 1125 | 153 | 95715325 | 95715451 | 371 | 496 | 87 | 129 |
| 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 |
| P21145 | 31 | 87 | 32 | 129 | Alternative sequence | ID=VSP_003162;Note=In isoform D. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 31 | 87 | 32 | 87 | Alternative sequence | ID=VSP_003163;Note=In isoform C. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 31 | 87 | 1 | 153 | Chain | ID=PRO_0000156805;Note=Myelin and lymphocyte protein |
| P21145 | 31 | 87 | 18 | 151 | Domain | Note=MARVEL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00581 |
| P21145 | 31 | 87 | 47 | 53 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 31 | 87 | 76 | 92 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 31 | 87 | 25 | 46 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 31 | 87 | 54 | 75 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 87 | 129 | 32 | 129 | Alternative sequence | ID=VSP_003162;Note=In isoform D. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 87 | 129 | 32 | 87 | Alternative sequence | ID=VSP_003163;Note=In isoform C. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 87 | 129 | 88 | 129 | Alternative sequence | ID=VSP_003164;Note=In isoform B. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 87 | 129 | 1 | 153 | Chain | ID=PRO_0000156805;Note=Myelin and lymphocyte protein |
| P21145 | 87 | 129 | 18 | 151 | Domain | Note=MARVEL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00581 |
| P21145 | 87 | 129 | 76 | 92 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 87 | 129 | 115 | 125 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 87 | 129 | 93 | 114 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 87 | 129 | 126 | 147 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P21145 | 31 | 87 | 32 | 129 | Alternative sequence | ID=VSP_003162;Note=In isoform D. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 31 | 87 | 32 | 87 | Alternative sequence | ID=VSP_003163;Note=In isoform C. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 31 | 87 | 1 | 153 | Chain | ID=PRO_0000156805;Note=Myelin and lymphocyte protein |
| P21145 | 31 | 87 | 18 | 151 | Domain | Note=MARVEL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00581 |
| P21145 | 31 | 87 | 47 | 53 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 31 | 87 | 76 | 92 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 31 | 87 | 25 | 46 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 31 | 87 | 54 | 75 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 87 | 129 | 32 | 129 | Alternative sequence | ID=VSP_003162;Note=In isoform D. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 87 | 129 | 32 | 87 | Alternative sequence | ID=VSP_003163;Note=In isoform C. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 87 | 129 | 88 | 129 | Alternative sequence | ID=VSP_003164;Note=In isoform B. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21145 | 87 | 129 | 1 | 153 | Chain | ID=PRO_0000156805;Note=Myelin and lymphocyte protein |
| P21145 | 87 | 129 | 18 | 151 | Domain | Note=MARVEL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00581 |
| P21145 | 87 | 129 | 76 | 92 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 87 | 129 | 115 | 125 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 87 | 129 | 93 | 114 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21145 | 87 | 129 | 126 | 147 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for MAL |
| - 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-73-4676-01 | exon_skip_327585 exon_skip_327572 | 95715326 | 95715451 | 95715324 | 95715324 | Splice_Site | A | G | p.D88_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 |
| DU145_PROSTATE | 95713704 | 95713871 | 95713724 | 95713724 | Missense_Mutation | G | T | p.W38C |
| IM95_STOMACH | 95713704 | 95713871 | 95713800 | 95713800 | Missense_Mutation | G | A | p.V64M |
| MZ2MEL_SKIN | 95715326 | 95715451 | 95715358 | 95715358 | Missense_Mutation | T | G | p.F98L |
| LB2518MEL_SKIN | 95715326 | 95715451 | 95715399 | 95715399 | Missense_Mutation | C | T | p.T112M |
| NCIH1693_LUNG | 95715326 | 95715451 | 95715427 | 95715427 | Missense_Mutation | C | A | p.H121Q |
| NCIH1693_LUNG | 95715326 | 95715451 | 95715427 | 95715428 | Missense_Mutation | CT | AC | p.121_122HY>QH |
| NCIH1693_LUNG | 95715326 | 95715451 | 95715428 | 95715428 | Missense_Mutation | T | C | p.Y122H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAL |
| 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 MAL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAL |
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RelatedDrugs for MAL |
| 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 MAL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MAL | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| MAL | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
| MAL | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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