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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 MMP15 |
Gene summary |
Gene information | Gene symbol | MMP15 | Gene ID | 4324 |
Gene name | matrix metallopeptidase 15 | |
Synonyms | MMP-15|MT2-MMP|MT2MMP|MTMMP2|SMCP-2 | |
Cytomap | 16q21 | |
Type of gene | protein-coding | |
Description | matrix metalloproteinase-15MT-MMP 2matrix metallopeptidase 15 (membrane-inserted)matrix metalloproteinase 15 (membrane-inserted)membrane-type matrix metalloproteinase 2membrane-type-2 matrix metalloproteinase | |
Modification date | 20180519 | |
UniProtAcc | P51511 | |
Context | PubMed: MMP15 [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 MMP15 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 MMP15 |
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 MMP15 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_137161 | 16 | 58071444:58071524:58072169:58072298:58073778:58074086 | 58072169:58072298 | ENSG00000102996.4 | ENST00000219271.3 |
exon_skip_137163 | 16 | 58077113:58077264:58077415:58077531:58078910:58080805 | 58077415:58077531 | ENSG00000102996.4 | ENST00000219271.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MMP15 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_137161 | 16 | 58071444:58071524:58072169:58072298:58073778:58074086 | 58072169:58072298 | ENSG00000102996.4 | ENST00000219271.3 |
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 MMP15 |
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 |
ENST00000219271 | 58077415 | 58077531 | Frame-shift |
ENST00000219271 | 58072169 | 58072298 | 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 |
ENST00000219271 | 58072169 | 58072298 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MMP15 |
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 |
ENST00000219271 | 4267 | 669 | 58072169 | 58072298 | 1097 | 1225 | 104 | 146 |
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 |
ENST00000219271 | 4267 | 669 | 58072169 | 58072298 | 1097 | 1225 | 104 | 146 |
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 |
P51511 | 104 | 146 | 132 | 669 | Chain | ID=PRO_0000028809;Note=Matrix metalloproteinase-15 |
P51511 | 104 | 146 | 111 | 111 | Metal binding | Note=Zinc%3B in inhibited form;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P51511 | 104 | 146 | 109 | 116 | Motif | Note=Cysteine switch;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P51511 | 104 | 146 | 42 | 131 | Propeptide | ID=PRO_0000028808;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P51511 | 104 | 146 | 132 | 625 | Topological domain | Note=Extracellular;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 |
P51511 | 104 | 146 | 132 | 669 | Chain | ID=PRO_0000028809;Note=Matrix metalloproteinase-15 |
P51511 | 104 | 146 | 111 | 111 | Metal binding | Note=Zinc%3B in inhibited form;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P51511 | 104 | 146 | 109 | 116 | Motif | Note=Cysteine switch;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P51511 | 104 | 146 | 42 | 131 | Propeptide | ID=PRO_0000028808;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
P51511 | 104 | 146 | 132 | 625 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for MMP15 |
- 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 |
HNSC | TCGA-CV-A461-01 | exon_skip_137161 | 58072170 | 58072298 | 58072217 | 58072217 | Frame_Shift_Del | G | - | p.R120fs |
HNSC | TCGA-CV-7255-01 | exon_skip_137163 | 58077416 | 58077531 | 58077474 | 58077475 | Frame_Shift_Ins | - | G | p.C505fs |
HNSC | TCGA-CV-7255-01 | exon_skip_137163 | 58077416 | 58077531 | 58077474 | 58077475 | Frame_Shift_Ins | - | G | p.S505fs |
- 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 |
DMS79_LUNG | 58072170 | 58072298 | 58072192 | 58072192 | Missense_Mutation | G | T | p.G112W |
HS766T_PANCREAS | 58072170 | 58072298 | 58072217 | 58072217 | Missense_Mutation | G | A | p.R120Q |
PANC0327_PANCREAS | 58072170 | 58072298 | 58072217 | 58072217 | Missense_Mutation | G | A | p.R120Q |
SW1783_CENTRAL_NERVOUS_SYSTEM | 58077416 | 58077531 | 58077424 | 58077424 | Missense_Mutation | G | A | p.R488H |
AM38_CENTRAL_NERVOUS_SYSTEM | 58077416 | 58077531 | 58077435 | 58077435 | Missense_Mutation | G | A | p.E492K |
KY821_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58077416 | 58077531 | 58077435 | 58077435 | Missense_Mutation | G | A | p.E492K |
MDAPCA2B_PROSTATE | 58077416 | 58077531 | 58077445 | 58077445 | Missense_Mutation | G | A | p.R495H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MMP15 |
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 MMP15 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MMP15 |
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RelatedDrugs for MMP15 |
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 MMP15 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
MMP15 | C0000786 | Spontaneous abortion | 1 | CTD_human |
MMP15 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |