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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 MMP7 |
 Gene summary |
| Gene information | Gene symbol | MMP7 | Gene ID | 4316 |
| Gene name | matrix metallopeptidase 7 | |
| Synonyms | MMP-7|MPSL1|PUMP-1 | |
| Cytomap | 11q22.2 | |
| Type of gene | protein-coding | |
| Description | matrilysinmatrinmatrix metallopeptidase 7 (matrilysin, uterine)matrix metalloproteinase 7 (matrilysin, uterine)matrix metalloproteinase-7pump-1 proteaseuterine matrilysinuterine metalloproteinase | |
| Modification date | 20180523 | |
| UniProtAcc | P09237 | |
| Context | PubMed: MMP7 [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 |
| MMP7 | GO:0006508 | proteolysis | 15297466|26482249 |
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Exon skipping events across known transcript of Ensembl for MMP7 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 MMP7 |
| 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 MMP7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77050 | 11 | 102391238:102391535:102393970:102394132:102395666:102395795 | 102393970:102394132 | ENSG00000137673.4 | ENST00000260227.4 |
| exon_skip_77062 | 11 | 102394084:102394132:102395666:102395795:102398254:102398403 | 102395666:102395795 | ENSG00000137673.4 | ENST00000260227.4 |
| exon_skip_77064 | 11 | 102395666:102395795:102398254:102398403:102398487:102398714 | 102398254:102398403 | ENSG00000137673.4 | ENST00000533366.1,ENST00000260227.4 |
| exon_skip_77069 | 11 | 102398254:102398403:102398487:102398714:102401323:102401478 | 102398487:102398714 | ENSG00000137673.4 | ENST00000533366.1,ENST00000531200.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MMP7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77050 | 11 | 102391238:102391535:102393970:102394132:102395666:102395795 | 102393970:102394132 | ENSG00000137673.4 | ENST00000260227.4 |
| exon_skip_77062 | 11 | 102394084:102394132:102395666:102395795:102398254:102398403 | 102395666:102395795 | ENSG00000137673.4 | ENST00000260227.4 |
| exon_skip_77069 | 11 | 102398254:102398403:102398487:102398714:102401323:102401478 | 102398487:102398714 | ENSG00000137673.4 | ENST00000533366.1,ENST00000531200.1 |
| 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 MMP7 |
| 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 |
| ENST00000260227 | 102398254 | 102398403 | Frame-shift |
| ENST00000260227 | 102393970 | 102394132 | In-frame |
| ENST00000260227 | 102395666 | 102395795 | 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 |
| ENST00000260227 | 102393970 | 102394132 | In-frame |
| ENST00000260227 | 102395666 | 102395795 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MMP7 |
| 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 |
| ENST00000260227 | 1142 | 267 | 102395666 | 102395795 | 538 | 666 | 161 | 204 |
| ENST00000260227 | 1142 | 267 | 102393970 | 102394132 | 667 | 828 | 204 | 258 |
| 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 |
| ENST00000260227 | 1142 | 267 | 102395666 | 102395795 | 538 | 666 | 161 | 204 |
| ENST00000260227 | 1142 | 267 | 102393970 | 102394132 | 667 | 828 | 204 | 258 |
| 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 |
| P09237 | 161 | 204 | 164 | 166 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 171 | 174 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 177 | 179 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 182 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 190 | 193 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 198 | 207 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 95 | 267 | Chain | ID=PRO_0000028739;Note=Matrilysin |
| P09237 | 161 | 204 | 161 | 163 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UE2 |
| P09237 | 161 | 204 | 163 | 163 | Metal binding | Note=Zinc 1 |
| P09237 | 161 | 204 | 165 | 165 | Metal binding | Note=Zinc 1 |
| P09237 | 161 | 204 | 170 | 170 | Metal binding | Note=Calcium 2 |
| P09237 | 161 | 204 | 171 | 171 | Metal binding | Note=Calcium 2%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 173 | 173 | Metal binding | Note=Calcium 2%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 175 | 175 | Metal binding | Note=Calcium 2%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 178 | 178 | Metal binding | Note=Zinc 1 |
| P09237 | 161 | 204 | 185 | 185 | Metal binding | Note=Calcium 1%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 187 | 187 | Metal binding | Note=Calcium 1%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 189 | 189 | Metal binding | Note=Calcium 1 |
| P09237 | 161 | 204 | 191 | 191 | Metal binding | Note=Zinc 1 |
| P09237 | 161 | 204 | 193 | 193 | Metal binding | Note=Calcium 2 |
| P09237 | 161 | 204 | 196 | 196 | Metal binding | Note=Calcium 2 |
| P09237 | 161 | 204 | 185 | 188 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 204 | 258 | 215 | 215 | Active site | . |
| P09237 | 204 | 258 | 198 | 207 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 204 | 258 | 233 | 236 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MMQ |
| P09237 | 204 | 258 | 241 | 243 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DDY |
| P09237 | 204 | 258 | 95 | 267 | Chain | ID=PRO_0000028739;Note=Matrilysin |
| P09237 | 204 | 258 | 208 | 219 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 204 | 258 | 248 | 257 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 204 | 258 | 214 | 214 | Metal binding | Note=Zinc 2%3B catalytic |
| P09237 | 204 | 258 | 218 | 218 | Metal binding | Note=Zinc 2%3B catalytic |
| P09237 | 204 | 258 | 224 | 224 | Metal binding | Note=Zinc 2%3B catalytic |
| P09237 | 204 | 258 | 241 | 241 | Natural variant | ID=VAR_021028;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs17886506 |
| 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 |
| P09237 | 161 | 204 | 164 | 166 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 171 | 174 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 177 | 179 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 182 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 190 | 193 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 198 | 207 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 161 | 204 | 95 | 267 | Chain | ID=PRO_0000028739;Note=Matrilysin |
| P09237 | 161 | 204 | 161 | 163 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UE2 |
| P09237 | 161 | 204 | 163 | 163 | Metal binding | Note=Zinc 1 |
| P09237 | 161 | 204 | 165 | 165 | Metal binding | Note=Zinc 1 |
| P09237 | 161 | 204 | 170 | 170 | Metal binding | Note=Calcium 2 |
| P09237 | 161 | 204 | 171 | 171 | Metal binding | Note=Calcium 2%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 173 | 173 | Metal binding | Note=Calcium 2%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 175 | 175 | Metal binding | Note=Calcium 2%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 178 | 178 | Metal binding | Note=Zinc 1 |
| P09237 | 161 | 204 | 185 | 185 | Metal binding | Note=Calcium 1%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 187 | 187 | Metal binding | Note=Calcium 1%3B via carbonyl oxygen |
| P09237 | 161 | 204 | 189 | 189 | Metal binding | Note=Calcium 1 |
| P09237 | 161 | 204 | 191 | 191 | Metal binding | Note=Zinc 1 |
| P09237 | 161 | 204 | 193 | 193 | Metal binding | Note=Calcium 2 |
| P09237 | 161 | 204 | 196 | 196 | Metal binding | Note=Calcium 2 |
| P09237 | 161 | 204 | 185 | 188 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 204 | 258 | 215 | 215 | Active site | . |
| P09237 | 204 | 258 | 198 | 207 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 204 | 258 | 233 | 236 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MMQ |
| P09237 | 204 | 258 | 241 | 243 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DDY |
| P09237 | 204 | 258 | 95 | 267 | Chain | ID=PRO_0000028739;Note=Matrilysin |
| P09237 | 204 | 258 | 208 | 219 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 204 | 258 | 248 | 257 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y6D |
| P09237 | 204 | 258 | 214 | 214 | Metal binding | Note=Zinc 2%3B catalytic |
| P09237 | 204 | 258 | 218 | 218 | Metal binding | Note=Zinc 2%3B catalytic |
| P09237 | 204 | 258 | 224 | 224 | Metal binding | Note=Zinc 2%3B catalytic |
| P09237 | 204 | 258 | 241 | 241 | Natural variant | ID=VAR_021028;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs17886506 |
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SNVs in the skipped exons for MMP7 |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_77069 | 102398488 | 102398714 | 102398514 | 102398514 | Frame_Shift_Del | T | - | p.K103fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_77069 | 102398488 | 102398714 | 102398606 | 102398606 | Frame_Shift_Del | T | - | p.M73fs |
| LUAD | TCGA-17-Z015-01 | exon_skip_77050 | 102393971 | 102394132 | 102394103 | 102394103 | Nonsense_Mutation | C | A | p.E215* |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_77069 | 102398488 | 102398714 | 102398512 | 102398512 | Nonsense_Mutation | C | T | p.W104* |
| - 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 |
| CW2_LARGE_INTESTINE | 102398488 | 102398714 | 102398671 | 102398671 | Frame_Shift_Del | T | - | p.N51fs |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102393971 | 102394132 | 102393992 | 102393992 | Missense_Mutation | T | C | p.K252E |
| MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102393971 | 102394132 | 102394048 | 102394048 | Missense_Mutation | T | C | p.Y233C |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102395667 | 102395795 | 102395690 | 102395690 | Missense_Mutation | C | T | p.R197H |
| HEC59_ENDOMETRIUM | 102395667 | 102395795 | 102395690 | 102395690 | Missense_Mutation | C | T | p.R197H |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102398255 | 102398403 | 102398285 | 102398285 | Missense_Mutation | C | T | p.A152T |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102398255 | 102398403 | 102398335 | 102398335 | Missense_Mutation | A | T | p.M135K |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102398255 | 102398403 | 102398336 | 102398336 | Missense_Mutation | T | A | p.M135L |
| SNU1040_LARGE_INTESTINE | 102398255 | 102398403 | 102398338 | 102398338 | Missense_Mutation | T | C | p.N134S |
| JHUEM1_ENDOMETRIUM | 102398255 | 102398403 | 102398378 | 102398378 | Missense_Mutation | G | A | p.P121S |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102398255 | 102398403 | 102398380 | 102398380 | Missense_Mutation | A | G | p.L120S |
| EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102398255 | 102398403 | 102398380 | 102398380 | Missense_Mutation | A | G | p.L120S |
| HEC59_ENDOMETRIUM | 102398488 | 102398714 | 102398599 | 102398599 | Missense_Mutation | T | C | p.N75S |
| NCIH1793_LUNG | 102398488 | 102398714 | 102398615 | 102398615 | Missense_Mutation | T | C | p.I70V |
| HS683_CENTRAL_NERVOUS_SYSTEM | 102398488 | 102398714 | 102398639 | 102398639 | Missense_Mutation | T | A | p.M62L |
| 2313287_STOMACH | 102398255 | 102398403 | 102398261 | 102398261 | Nonsense_Mutation | G | A | p.R160* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MMP7 |
| 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 MMP7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MMP7 |
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RelatedDrugs for MMP7 |
| 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 MMP7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MMP7 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| MMP7 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| MMP7 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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