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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 PM20D1 |
Gene summary |
Gene information | Gene symbol | PM20D1 | Gene ID | 148811 |
Gene name | peptidase M20 domain containing 1 | |
Synonyms | Cps1 | |
Cytomap | 1q32.1 | |
Type of gene | protein-coding | |
Description | N-fatty-acyl-amino acid synthase/hydrolase PM20D1peptidase M20 domain-containing protein 1probable carboxypeptidase PM20D1 | |
Modification date | 20180519 | |
UniProtAcc | Q6GTS8 | |
Context | PubMed: PM20D1 [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 |
PM20D1 | GO:0006520 | cellular amino acid metabolic process | 27374330 |
PM20D1 | GO:0043604 | amide biosynthetic process | 27374330 |
PM20D1 | GO:0043605 | cellular amide catabolic process | 27374330 |
PM20D1 | GO:0044255 | cellular lipid metabolic process | 27374330 |
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Exon skipping events across known transcript of Ensembl for PM20D1 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 PM20D1 |
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 PM20D1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_36222 | 1 | 205799407:205799507:205801725:205801894:205809379:205809451 | 205801725:205801894 | ENSG00000162877.8 | ENST00000460624.1,ENST00000367136.4 |
exon_skip_36224 | 1 | 205799407:205799507:205809379:205809451:205810938:205811007 | 205809379:205809451 | ENSG00000162877.8 | ENST00000461807.1 |
exon_skip_36228 | 1 | 205801725:205801894:205809379:205809451:205810938:205811007 | 205809379:205809451 | ENSG00000162877.8 | ENST00000460624.1,ENST00000367136.4 |
exon_skip_36233 | 1 | 205809379:205809451:205810938:205811017:205811803:205811879 | 205810938:205811017 | ENSG00000162877.8 | ENST00000460624.1 |
exon_skip_36234 | 1 | 205810938:205811017:205811281:205811343:205811803:205811879 | 205811281:205811343 | ENSG00000162877.8 | ENST00000367136.4 |
exon_skip_36235 | 1 | 205814452:205814685:205817012:205817099:205819031:205819245 | 205817012:205817099 | ENSG00000162877.8 | ENST00000460624.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PM20D1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_36222 | 1 | 205799407:205799507:205801725:205801894:205809379:205809451 | 205801725:205801894 | ENSG00000162877.8 | ENST00000367136.4,ENST00000460624.1 |
exon_skip_36224 | 1 | 205799407:205799507:205809379:205809451:205810938:205811007 | 205809379:205809451 | ENSG00000162877.8 | ENST00000461807.1 |
exon_skip_36228 | 1 | 205801725:205801894:205809379:205809451:205810938:205811007 | 205809379:205809451 | ENSG00000162877.8 | ENST00000367136.4,ENST00000460624.1 |
exon_skip_36233 | 1 | 205809379:205809451:205810938:205811017:205811803:205811879 | 205810938:205811017 | ENSG00000162877.8 | ENST00000460624.1 |
exon_skip_36234 | 1 | 205810938:205811017:205811281:205811343:205811803:205811879 | 205811281:205811343 | ENSG00000162877.8 | ENST00000367136.4 |
exon_skip_36235 | 1 | 205814452:205814685:205817012:205817099:205819031:205819245 | 205817012:205817099 | ENSG00000162877.8 | ENST00000460624.1 |
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 PM20D1 |
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 |
ENST00000367136 | 205801725 | 205801894 | Frame-shift |
ENST00000367136 | 205811281 | 205811343 | Frame-shift |
ENST00000367136 | 205809379 | 205809451 | 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 |
ENST00000367136 | 205801725 | 205801894 | Frame-shift |
ENST00000367136 | 205811281 | 205811343 | Frame-shift |
ENST00000367136 | 205809379 | 205809451 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PM20D1 |
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 |
ENST00000367136 | 2169 | 502 | 205809379 | 205809451 | 1090 | 1161 | 348 | 372 |
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 |
ENST00000367136 | 2169 | 502 | 205809379 | 205809451 | 1090 | 1161 | 348 | 372 |
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 |
Q6GTS8 | 348 | 372 | 302 | 361 | Alternative sequence | ID=VSP_031826;Note=In isoform 2. FPFPVNIILSNPWLFEPLISRFMERNPLTNAIIRTTTALTIFKAGVKFNVIPPVAQATVN->VYGEKSLNQCNNQDHHGTHHIQSRGQVQCHPPSGPGHSQLPDSPWTDSPRGPRTHEEHCG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q6GTS8 | 348 | 372 | 362 | 502 | Alternative sequence | ID=VSP_031827;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q6GTS8 | 348 | 372 | 26 | 502 | Chain | ID=PRO_0000321928;Note=N-fatty-acyl-amino acid synthase/hydrolase PM20D1 |
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 |
Q6GTS8 | 348 | 372 | 302 | 361 | Alternative sequence | ID=VSP_031826;Note=In isoform 2. FPFPVNIILSNPWLFEPLISRFMERNPLTNAIIRTTTALTIFKAGVKFNVIPPVAQATVN->VYGEKSLNQCNNQDHHGTHHIQSRGQVQCHPPSGPGHSQLPDSPWTDSPRGPRTHEEHCG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q6GTS8 | 348 | 372 | 362 | 502 | Alternative sequence | ID=VSP_031827;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q6GTS8 | 348 | 372 | 26 | 502 | Chain | ID=PRO_0000321928;Note=N-fatty-acyl-amino acid synthase/hydrolase PM20D1 |
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SNVs in the skipped exons for PM20D1 |
- 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 |
LUSC | TCGA-66-2782-01 | exon_skip_36235 | 205817013 | 205817099 | 205817012 | 205817012 | Splice_Site | C | T | p.V86_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 |
CCK81_LARGE_INTESTINE | 205801726 | 205801894 | 205801735 | 205801735 | Missense_Mutation | T | C | p.T426A |
697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 205801726 | 205801894 | 205801816 | 205801816 | Missense_Mutation | C | T | p.V399I |
LIM1215_LARGE_INTESTINE | 205801726 | 205801894 | 205801816 | 205801816 | Missense_Mutation | C | T | p.V399I |
OMC1_CERVIX | 205801726 | 205801894 | 205801838 | 205801838 | Missense_Mutation | C | G | p.L391F |
SNU175_LARGE_INTESTINE | 205809380 | 205809451 | 205809400 | 205809400 | Missense_Mutation | G | A | p.P366S |
SCABER_URINARY_TRACT | 205809380 | 205809451 | 205809409 | 205809409 | Missense_Mutation | G | A | p.R363W |
OVCAR8_OVARY | 205810939 | 205811017 | 205811010 | 205811010 | Missense_Mutation | C | G | p.E325Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PM20D1 |
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 PM20D1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PM20D1 |
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RelatedDrugs for PM20D1 |
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 PM20D1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |