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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 CPA4 |
 Gene summary |
| Gene information | Gene symbol | CPA4 | Gene ID | 51200 |
| Gene name | carboxypeptidase A4 | |
| Synonyms | CPA3 | |
| Cytomap | 7q32.2 | |
| Type of gene | protein-coding | |
| Description | carboxypeptidase A4carboxypeptidase A3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UI42 | |
| Context | PubMed: CPA4 [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 CPA4 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 CPA4 |
| 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 CPA4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471259 | 7 | 129939109:129939244:129939548:129939607:129940655:129940754 | 129939548:129939607 | ENSG00000128510.6 | ENST00000474254.1 |
| exon_skip_471263 | 7 | 129939109:129939244:129940655:129940754:129944317:129944332 | 129940655:129940754 | ENSG00000128510.6 | ENST00000486598.1,ENST00000490117.1,ENST00000222482.4,ENST00000492072.1,ENST00000470542.1 |
| exon_skip_471267 | 7 | 129944317:129944419:129945655:129945760:129946626:129946655 | 129945655:129945760 | ENSG00000128510.6 | ENST00000473956.1,ENST00000493259.1,ENST00000222482.4,ENST00000445470.2 |
| exon_skip_471273 | 7 | 129946626:129946737:129948146:129948237:129950626:129950826 | 129948146:129948237 | ENSG00000128510.6 | ENST00000493259.1,ENST00000222482.4,ENST00000445470.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CPA4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471259 | 7 | 129939109:129939244:129939548:129939607:129940655:129940754 | 129939548:129939607 | ENSG00000128510.6 | ENST00000474254.1 |
| exon_skip_471263 | 7 | 129939109:129939244:129940655:129940754:129944317:129944332 | 129940655:129940754 | ENSG00000128510.6 | ENST00000222482.4,ENST00000470542.1,ENST00000492072.1,ENST00000490117.1,ENST00000486598.1 |
| exon_skip_471267 | 7 | 129944317:129944419:129945655:129945760:129946626:129946655 | 129945655:129945760 | ENSG00000128510.6 | ENST00000445470.2,ENST00000222482.4,ENST00000473956.1,ENST00000493259.1 |
| exon_skip_471273 | 7 | 129946626:129946737:129948146:129948237:129950626:129950826 | 129948146:129948237 | ENSG00000128510.6 | ENST00000445470.2,ENST00000222482.4,ENST00000493259.1 |
| 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 CPA4 |
| 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 |
| ENST00000222482 | 129948146 | 129948237 | Frame-shift |
| ENST00000222482 | 129940655 | 129940754 | In-frame |
| ENST00000222482 | 129945655 | 129945760 | 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 |
| ENST00000222482 | 129948146 | 129948237 | Frame-shift |
| ENST00000222482 | 129940655 | 129940754 | In-frame |
| ENST00000222482 | 129945655 | 129945760 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CPA4 |
| 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 |
| ENST00000222482 | 2814 | 421 | 129940655 | 129940754 | 314 | 412 | 95 | 128 |
| ENST00000222482 | 2814 | 421 | 129945655 | 129945760 | 515 | 619 | 162 | 197 |
| 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 |
| ENST00000222482 | 2814 | 421 | 129940655 | 129940754 | 314 | 412 | 95 | 128 |
| ENST00000222482 | 2814 | 421 | 129945655 | 129945760 | 515 | 619 | 162 | 197 |
| 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 |
| Q9UI42 | 95 | 128 | 96 | 128 | Alternative sequence | ID=VSP_042894;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9UI42 | 95 | 128 | 120 | 122 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BOA |
| Q9UI42 | 95 | 128 | 114 | 421 | Chain | ID=PRO_0000004358;Note=Carboxypeptidase A4 |
| Q9UI42 | 95 | 128 | 94 | 115 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BOA |
| Q9UI42 | 95 | 128 | 126 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BO9 |
| Q9UI42 | 95 | 128 | 17 | 113 | Propeptide | ID=PRO_0000004357;Note=Activation peptide;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UI42 | 162 | 197 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BO9 |
| Q9UI42 | 162 | 197 | 173 | 178 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BO9 |
| Q9UI42 | 162 | 197 | 114 | 421 | Chain | ID=PRO_0000004358;Note=Carboxypeptidase A4 |
| Q9UI42 | 162 | 197 | 185 | 201 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BO9 |
| Q9UI42 | 162 | 197 | 181 | 181 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22294694;Dbxref=PMID:22294694 |
| Q9UI42 | 162 | 197 | 184 | 184 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22294694;Dbxref=PMID:22294694 |
| Q9UI42 | 162 | 197 | 183 | 183 | Natural variant | ID=VAR_048595;Note=R->L;Dbxref=dbSNP:rs3735053 |
| Q9UI42 | 162 | 197 | 181 | 184 | Region | Note=Substrate binding |
| 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 |
| Q9UI42 | 95 | 128 | 96 | 128 | Alternative sequence | ID=VSP_042894;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9UI42 | 95 | 128 | 120 | 122 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BOA |
| Q9UI42 | 95 | 128 | 114 | 421 | Chain | ID=PRO_0000004358;Note=Carboxypeptidase A4 |
| Q9UI42 | 95 | 128 | 94 | 115 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BOA |
| Q9UI42 | 95 | 128 | 126 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BO9 |
| Q9UI42 | 95 | 128 | 17 | 113 | Propeptide | ID=PRO_0000004357;Note=Activation peptide;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UI42 | 162 | 197 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BO9 |
| Q9UI42 | 162 | 197 | 173 | 178 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BO9 |
| Q9UI42 | 162 | 197 | 114 | 421 | Chain | ID=PRO_0000004358;Note=Carboxypeptidase A4 |
| Q9UI42 | 162 | 197 | 185 | 201 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BO9 |
| Q9UI42 | 162 | 197 | 181 | 181 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22294694;Dbxref=PMID:22294694 |
| Q9UI42 | 162 | 197 | 184 | 184 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22294694;Dbxref=PMID:22294694 |
| Q9UI42 | 162 | 197 | 183 | 183 | Natural variant | ID=VAR_048595;Note=R->L;Dbxref=dbSNP:rs3735053 |
| Q9UI42 | 162 | 197 | 181 | 184 | Region | Note=Substrate binding |
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SNVs in the skipped exons for CPA4 |
| - 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-A1EG-01 | exon_skip_471263 | 129940656 | 129940754 | 129940731 | 129940731 | Frame_Shift_Del | G | - | p.G121fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_471263 | 129940656 | 129940754 | 129940731 | 129940731 | Frame_Shift_Del | G | - | p.G121fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_471273 | 129948147 | 129948237 | 129948150 | 129948150 | Nonsense_Mutation | C | T | p.R236* |
| STAD | TCGA-D7-A4YV-01 | exon_skip_471273 | 129948147 | 129948237 | 129948150 | 129948150 | Nonsense_Mutation | C | T | p.R236X |
| - 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 |
| SNUC2A_LARGE_INTESTINE | 129940656 | 129940754 | 129940734 | 129940734 | Missense_Mutation | G | A | p.A122T |
| DU145_PROSTATE | 129945656 | 129945760 | 129945660 | 129945660 | Missense_Mutation | G | A | p.S164N |
| ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129945656 | 129945760 | 129945674 | 129945674 | Missense_Mutation | G | A | p.V169M |
| SNU81_LARGE_INTESTINE | 129945656 | 129945760 | 129945717 | 129945717 | Missense_Mutation | G | T | p.R183L |
| NCIH1568_LUNG | 129945656 | 129945760 | 129945750 | 129945750 | Missense_Mutation | C | G | p.T194R |
| HT115_LARGE_INTESTINE | 129945656 | 129945760 | 129945752 | 129945752 | Missense_Mutation | G | A | p.A195T |
| TC138_BONE | 129948147 | 129948237 | 129948168 | 129948168 | Missense_Mutation | C | T | p.R242W |
| HT115_LARGE_INTESTINE | 129948147 | 129948237 | 129948175 | 129948175 | Missense_Mutation | G | A | p.R244Q |
| WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129948147 | 129948237 | 129948211 | 129948211 | Missense_Mutation | A | C | p.N256T |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129940656 | 129940754 | 129940753 | 129940753 | Splice_Site | C | T | p.A128V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CPA4 |
| 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 CPA4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPA4 |
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RelatedDrugs for CPA4 |
| 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 CPA4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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