|
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 NAPEPLD |
Gene summary |
Gene information | Gene symbol | NAPEPLD | Gene ID | 222236 |
Gene name | N-acyl phosphatidylethanolamine phospholipase D | |
Synonyms | C7orf18|FMP30|NAPE-PLD | |
Cytomap | 7q22.1 | |
Type of gene | protein-coding | |
Description | N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase DNAPE-hydrolyzing phospholipase D | |
Modification date | 20180523 | |
UniProtAcc | Q6IQ20 | |
Context | PubMed: NAPEPLD [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 |
Top |
Exon skipping events across known transcript of Ensembl for NAPEPLD 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. |
Top |
Gene isoform structures and expression levels for NAPEPLD |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for NAPEPLD |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_478653 | 7 | 102743870:102744001:102755506:102755621:102760023:102760213 | 102755506:102755621 | ENSG00000161048.7 | ENST00000427257.1,ENST00000422589.1,ENST00000417955.1,ENST00000341533.4,ENST00000455523.2,ENST00000465647.1,ENST00000420631.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for NAPEPLD |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_478653 | 7 | 102743870:102744001:102755506:102755621:102760023:102760213 | 102755506:102755621 | ENSG00000161048.7 | ENST00000341533.4,ENST00000417955.1,ENST00000422589.1,ENST00000465647.1,ENST00000420631.1,ENST00000427257.1,ENST00000455523.2 |
exon_skip_478658 | 7 | 102769206:102769239:102788407:102788551:102789284:102789682 | 102788407:102788551 | ENSG00000161048.7 | ENST00000425379.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for NAPEPLD |
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 |
Top |
Infer the effects of exon skipping event on protein functional features for NAPEPLD |
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 |
Top |
SNVs in the skipped exons for NAPEPLD |
- 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 |
- 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 |
HCC515_LUNG | 102755507 | 102755621 | 102755581 | 102755581 | Missense_Mutation | C | T | p.V328I |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102755507 | 102755621 | 102755507 | 102755507 | Splice_Site | C | A | p.E352D |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NAPEPLD |
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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAPEPLD |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAPEPLD |
Top |
RelatedDrugs for NAPEPLD |
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 |
Top |
RelatedDiseases for NAPEPLD |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |