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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 CELA3A |
 Gene summary |
| Gene information | Gene symbol | CELA3A | Gene ID | 10136 |
| Gene name | chymotrypsin like elastase family member 3A | |
| Synonyms | ELA3|ELA3A | |
| Cytomap | 1p36.12 | |
| Type of gene | protein-coding | |
| Description | chymotrypsin-like elastase family member 3Aelastase 1elastase 3A, pancreaticelastase IIIAelastase-3Aprotease E | |
| Modification date | 20180523 | |
| UniProtAcc | P09093 | |
| Context | PubMed: CELA3A [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 CELA3A 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 CELA3A |
| 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 CELA3A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2313 | 1 | 22328152:22328210:22329495:22329581:22331939:22332037 | 22329495:22329581 | ENSG00000142789.15 | ENST00000374663.1 |
| exon_skip_2316 | 1 | 22332154:22332289:22333370:22333507:22333865:22334008 | 22333370:22333507 | ENSG00000142789.15 | ENST00000290122.3 |
| exon_skip_2321 | 1 | 22336197:22336350:22336630:22336678:22338942:22339015 | 22336630:22336678 | ENSG00000142789.15 | ENST00000400271.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CELA3A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2313 | 1 | 22328152:22328210:22329495:22329581:22331939:22332037 | 22329495:22329581 | ENSG00000142789.15 | ENST00000374663.1 |
| exon_skip_2316 | 1 | 22332154:22332289:22333370:22333507:22333865:22334008 | 22333370:22333507 | ENSG00000142789.15 | ENST00000290122.3 |
| exon_skip_2321 | 1 | 22336197:22336350:22336630:22336678:22338942:22339015 | 22336630:22336678 | ENSG00000142789.15 | ENST00000400271.2 |
| 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 CELA3A |
| 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 |
| ENST00000290122 | 22333370 | 22333507 | 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 |
| ENST00000290122 | 22333370 | 22333507 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CELA3A |
| 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 |
| 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 CELA3A |
| - 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 |
| CESC | TCGA-FU-A3HY-01 | exon_skip_2313 | 22329496 | 22329581 | 22329579 | 22329579 | Nonsense_Mutation | C | T | p.Q43* |
| - 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 |
| SNU1040_LARGE_INTESTINE | 22329496 | 22329581 | 22329535 | 22329535 | Missense_Mutation | G | A | p.R28H |
| SNU175_LARGE_INTESTINE | 22333371 | 22333507 | 22333381 | 22333381 | Missense_Mutation | G | A | p.A125T |
| CASKI_CERVIX | 22333371 | 22333507 | 22333419 | 22333419 | Missense_Mutation | T | G | p.D137E |
| GCT_SOFT_TISSUE | 22333371 | 22333507 | 22333445 | 22333445 | Missense_Mutation | C | T | p.P146L |
| PEDS005TPFAD_KIDNEY | 22333371 | 22333507 | 22333451 | 22333451 | Missense_Mutation | G | T | p.G148V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CELA3A |
| 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 CELA3A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CELA3A |
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RelatedDrugs for CELA3A |
| 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 CELA3A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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