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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for MST1 |
Gene summary |
Gene information | Gene symbol | MST1 | Gene ID | 4485 |
Gene name | macrophage stimulating 1 | |
Synonyms | D3F15S2|DNF15S2|HGFL|MSP|NF15S2 | |
Cytomap | 3p21.31 | |
Type of gene | protein-coding | |
Description | hepatocyte growth factor-like proteinhepatocyte growth factor-like protein homologmacrophage stimulating 1 (hepatocyte growth factor-like)macrophage-stimulating protein | |
Modification date | 20180523 | |
UniProtAcc | P26927 | |
Context | PubMed: MST1 [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 |
MST1 | GO:0045721 | negative regulation of gluconeogenesis | 19720831 |
MST1 | GO:2000479 | regulation of cAMP-dependent protein kinase activity | 19720831 |
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Exon skipping events across known transcript of Ensembl for MST1 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 MST1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MST1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_384297 | 3 | 49722170:49722388:49722694:49722815:49722903:49722939 | 49722694:49722815 | ENSG00000173531.11 | ENST00000481930.2 |
exon_skip_384299 | 3 | 49722444:49722518:49722694:49722815:49722903:49722939 | 49722694:49722815 | ENSG00000173531.11 | ENST00000488350.2 |
exon_skip_384300 | 3 | 49722444:49722522:49722694:49722815:49722903:49722939 | 49722694:49722815 | ENSG00000173531.11 | ENST00000449682.2,ENST00000492329.1,ENST00000484269.1 |
exon_skip_384304 | 3 | 49723295:49723395:49723494:49723625:49723745:49723914 | 49723494:49723625 | ENSG00000173531.11 | ENST00000449682.2 |
exon_skip_384308 | 3 | 49723295:49723395:49723494:49723914:49724116:49724235 | 49723494:49723914 | ENSG00000173531.11 | ENST00000494809.1,ENST00000484269.1,ENST00000383728.3 |
exon_skip_384314 | 3 | 49723494:49723625:49723745:49723914:49724116:49724235 | 49723745:49723914 | ENSG00000173531.11 | ENST00000449682.2,ENST00000489007.1 |
exon_skip_384317 | 3 | 49724581:49724718:49724796:49724911:49724988:49725101 | 49724796:49724911 | ENSG00000173531.11 | ENST00000449682.2,ENST00000494828.2,ENST00000383728.3 |
exon_skip_384319 | 3 | 49724988:49725101:49725182:49725330:49726030:49726091 | 49725182:49725330 | ENSG00000173531.11 | ENST00000484673.1,ENST00000449682.2,ENST00000492370.1,ENST00000545762.1,ENST00000490966.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MST1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_384297 | 3 | 49722170:49722388:49722694:49722815:49722903:49722939 | 49722694:49722815 | ENSG00000173531.11 | ENST00000481930.2 |
exon_skip_384299 | 3 | 49722444:49722518:49722694:49722815:49722903:49722939 | 49722694:49722815 | ENSG00000173531.11 | ENST00000488350.2 |
exon_skip_384300 | 3 | 49722444:49722522:49722694:49722815:49722903:49722939 | 49722694:49722815 | ENSG00000173531.11 | ENST00000449682.2,ENST00000492329.1,ENST00000484269.1 |
exon_skip_384304 | 3 | 49723295:49723395:49723494:49723625:49723745:49723914 | 49723494:49723625 | ENSG00000173531.11 | ENST00000449682.2 |
exon_skip_384308 | 3 | 49723295:49723395:49723494:49723914:49724116:49724235 | 49723494:49723914 | ENSG00000173531.11 | ENST00000484269.1,ENST00000383728.3,ENST00000494809.1 |
exon_skip_384314 | 3 | 49723494:49723625:49723745:49723914:49724116:49724235 | 49723745:49723914 | ENSG00000173531.11 | ENST00000449682.2,ENST00000489007.1 |
exon_skip_384317 | 3 | 49724581:49724718:49724796:49724911:49724988:49725101 | 49724796:49724911 | ENSG00000173531.11 | ENST00000449682.2,ENST00000383728.3,ENST00000494828.2 |
exon_skip_384319 | 3 | 49724988:49725101:49725182:49725330:49726030:49726091 | 49725182:49725330 | ENSG00000173531.11 | ENST00000449682.2,ENST00000484673.1,ENST00000492370.1,ENST00000545762.1,ENST00000490966.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MST1 |
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 MST1 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 MST1 |
- 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. |
- 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_384299 exon_skip_384297 exon_skip_384300 | 49722695 | 49722815 | 49722737 | 49722737 | Frame_Shift_Del | C | - | p.G501fs |
UCEC | TCGA-BS-A0U8-01 | exon_skip_384308 | 49723495 | 49723914 | 49723842 | 49723842 | Frame_Shift_Del | C | - | p.G307fs |
UCEC | TCGA-BS-A0U8-01 | exon_skip_384314 | 49723746 | 49723914 | 49723842 | 49723842 | Frame_Shift_Del | C | - | p.G307fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_384317 | 49724797 | 49724911 | 49724806 | 49724806 | Frame_Shift_Del | T | - | p.N154fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_384317 | 49724797 | 49724911 | 49724866 | 49724866 | Frame_Shift_Del | C | - | p.G134fs |
KIRC | TCGA-A3-3374-01 | exon_skip_384319 | 49725183 | 49725330 | 49725275 | 49725279 | Frame_Shift_Del | GTGCT | - | p.QH49fs |
PAAD | TCGA-HV-A5A3-01 | exon_skip_384319 | 49725183 | 49725330 | 49725275 | 49725279 | Frame_Shift_Del | GTGCT | - | p.QH49fs |
BLCA | TCGA-SY-A9G5-01 | exon_skip_384308 | 49723495 | 49723914 | 49723780 | 49723780 | Nonsense_Mutation | G | A | p.Q328* |
BLCA | TCGA-SY-A9G5-01 | exon_skip_384314 | 49723746 | 49723914 | 49723780 | 49723780 | Nonsense_Mutation | G | A | p.Q328* |
BRCA | TCGA-BH-A1FE-01 | exon_skip_384308 | 49723495 | 49723914 | 49723916 | 49723916 | Splice_Site | T | G | e8-2 |
BRCA | TCGA-BH-A1FE-01 | exon_skip_384314 | 49723746 | 49723914 | 49723916 | 49723916 | Splice_Site | T | G | e8-2 |
BRCA | TCGA-BH-A1FE-06 | exon_skip_384308 | 49723495 | 49723914 | 49723916 | 49723916 | Splice_Site | T | G | e8-2 |
BRCA | TCGA-BH-A1FE-06 | exon_skip_384314 | 49723746 | 49723914 | 49723916 | 49723916 | Splice_Site | T | G | e8-2 |
- 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MST1 |
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_384317 | 3 | 49724581:49724718:49724796:49724911:49724988:49725101 | 49724796:49724911 | ENST00000449682.2,ENST00000494828.2,ENST00000383728.3 | LGG | rs3020779 | chr3:49724808 | T/C | 4.55e-08 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MST1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MST1 |
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RelatedDrugs for MST1 |
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 MST1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
MST1 | C0009324 | Ulcerative Colitis | 2 | CTD_human |
MST1 | C0008313 | Cholangitis, Sclerosing | 1 | CTD_human |
MST1 | C0010346 | Crohn Disease | 1 | CTD_human |