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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 SEC14L3 |
Gene summary |
Gene information | Gene symbol | SEC14L3 | Gene ID | 266629 |
Gene name | SEC14 like lipid binding 3 | |
Synonyms | TAP2 | |
Cytomap | 22q12.2 | |
Type of gene | protein-coding | |
Description | SEC14-like protein 3SEC14-like 3SEC14p-like protein TAP2tocopherol-associated protein 2 | |
Modification date | 20180519 | |
UniProtAcc | Q9UDX4 | |
Context | PubMed: SEC14L3 [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 SEC14L3 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 SEC14L3 |
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 SEC14L3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_368523 | 22 | 30864494:30864683:30864775:30864945:30866005:30866065 | 30864775:30864945 | ENSG00000100012.7 | ENST00000402286.1,ENST00000540910.1 |
exon_skip_368524 | 22 | 30866005:30866065:30866198:30866242:30866493:30866564 | 30866198:30866242 | ENSG00000100012.7 | ENST00000402286.1,ENST00000403066.1,ENST00000415957.2,ENST00000540910.1,ENST00000401751.1,ENST00000434642.1,ENST00000539629.1,ENST00000215812.4 |
exon_skip_368525 | 22 | 30866493:30866569:30867146:30867194:30867891:30867973 | 30867146:30867194 | ENSG00000100012.7 | ENST00000402286.1,ENST00000401751.1 |
exon_skip_368526 | 22 | 30866493:30866569:30867146:30867264:30867891:30867973 | 30867146:30867264 | ENSG00000100012.7 | ENST00000434642.1,ENST00000539629.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SEC14L3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_368523 | 22 | 30864494:30864683:30864775:30864945:30866005:30866065 | 30864775:30864945 | ENSG00000100012.7 | ENST00000402286.1,ENST00000540910.1 |
exon_skip_368525 | 22 | 30866493:30866569:30867146:30867194:30867891:30867973 | 30867146:30867194 | ENSG00000100012.7 | ENST00000402286.1,ENST00000401751.1 |
exon_skip_368526 | 22 | 30866493:30866569:30867146:30867264:30867891:30867973 | 30867146:30867264 | ENSG00000100012.7 | ENST00000434642.1,ENST00000539629.1 |
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 SEC14L3 |
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 |
ENST00000215812 | 30866198 | 30866242 | Frame-shift |
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 SEC14L3 |
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 SEC14L3 |
- 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 |
CESC | TCGA-C5-A1MI-01 | exon_skip_368526 | 30867147 | 30867264 | 30867221 | 30867221 | Nonsense_Mutation | G | C | p.S33* |
- 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 SEC14L3 |
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 SEC14L3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEC14L3 |
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RelatedDrugs for SEC14L3 |
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 SEC14L3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |