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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 CPA2 |
 Gene summary |
| Gene information | Gene symbol | CPA2 | Gene ID | 1358 |
| Gene name | carboxypeptidase A2 | |
| Synonyms | - | |
| Cytomap | 7q32.2 | |
| Type of gene | protein-coding | |
| Description | carboxypeptidase A2carboxypeptidase A2 (pancreatic) | |
| Modification date | 20180523 | |
| UniProtAcc | P48052 | |
| Context | PubMed: CPA2 [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 CPA2 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 CPA2 |
| 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 CPA2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471236 | 7 | 129906720:129906792:129908768:129908850:129909508:129909643 | 129908768:129908850 | ENSG00000158516.7 | ENST00000416698.1,ENST00000480781.1,ENST00000487259.1 |
| exon_skip_471238 | 7 | 129909508:129909643:129910532:129910628:129912915:129913017 | 129910532:129910628 | ENSG00000158516.7 | ENST00000222481.4,ENST00000416698.1,ENST00000480781.1,ENST00000487259.1 |
| exon_skip_471244 | 7 | 129910532:129910628:129912915:129913017:129914988:129915087 | 129912915:129913017 | ENSG00000158516.7 | ENST00000222481.4,ENST00000487259.1 |
| exon_skip_471247 | 7 | 129912915:129913017:129913545:129913651:129914988:129915087 | 129913545:129913651 | ENSG00000158516.7 | ENST00000416698.1 |
| exon_skip_471250 | 7 | 129912915:129913017:129914988:129915087:129916467:129916576 | 129914988:129915087 | ENSG00000158516.7 | ENST00000222481.4,ENST00000487259.1 |
| exon_skip_471251 | 7 | 129913545:129913651:129914988:129915087:129916467:129916578 | 129914988:129915087 | ENSG00000158516.7 | ENST00000416698.1 |
| exon_skip_471252 | 7 | 129917665:129917756:129919302:129919502:129921943:129922028 | 129919302:129919502 | ENSG00000158516.7 | ENST00000222481.4 |
| exon_skip_471253 | 7 | 129919302:129919502:129921943:129922028:129929399:129929638 | 129921943:129922028 | ENSG00000158516.7 | ENST00000222481.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CPA2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471236 | 7 | 129906720:129906792:129908768:129908850:129909508:129909643 | 129908768:129908850 | ENSG00000158516.7 | ENST00000480781.1,ENST00000487259.1,ENST00000416698.1 |
| exon_skip_471238 | 7 | 129909508:129909643:129910532:129910628:129912915:129913017 | 129910532:129910628 | ENSG00000158516.7 | ENST00000222481.4,ENST00000480781.1,ENST00000487259.1,ENST00000416698.1 |
| exon_skip_471244 | 7 | 129910532:129910628:129912915:129913017:129914988:129915087 | 129912915:129913017 | ENSG00000158516.7 | ENST00000222481.4,ENST00000487259.1 |
| exon_skip_471247 | 7 | 129912915:129913017:129913545:129913651:129914988:129915087 | 129913545:129913651 | ENSG00000158516.7 | ENST00000416698.1 |
| exon_skip_471250 | 7 | 129912915:129913017:129914988:129915087:129916467:129916576 | 129914988:129915087 | ENSG00000158516.7 | ENST00000222481.4,ENST00000487259.1 |
| exon_skip_471251 | 7 | 129913545:129913651:129914988:129915087:129916467:129916578 | 129914988:129915087 | ENSG00000158516.7 | ENST00000416698.1 |
| exon_skip_471252 | 7 | 129917665:129917756:129919302:129919502:129921943:129922028 | 129919302:129919502 | ENSG00000158516.7 | ENST00000222481.4 |
| exon_skip_471253 | 7 | 129919302:129919502:129921943:129922028:129929399:129929638 | 129921943:129922028 | ENSG00000158516.7 | ENST00000222481.4 |
| 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 CPA2 |
| 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 |
| ENST00000222481 | 129919302 | 129919502 | Frame-shift |
| ENST00000222481 | 129921943 | 129922028 | Frame-shift |
| ENST00000222481 | 129910532 | 129910628 | In-frame |
| ENST00000222481 | 129912915 | 129913017 | In-frame |
| ENST00000222481 | 129914988 | 129915087 | 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 |
| ENST00000222481 | 129919302 | 129919502 | Frame-shift |
| ENST00000222481 | 129921943 | 129922028 | Frame-shift |
| ENST00000222481 | 129910532 | 129910628 | In-frame |
| ENST00000222481 | 129912915 | 129913017 | In-frame |
| ENST00000222481 | 129914988 | 129915087 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CPA2 |
| 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 |
| ENST00000222481 | 1383 | 419 | 129910532 | 129910628 | 344 | 439 | 96 | 128 |
| ENST00000222481 | 1383 | 419 | 129912915 | 129913017 | 440 | 541 | 128 | 162 |
| ENST00000222481 | 1383 | 419 | 129914988 | 129915087 | 542 | 640 | 162 | 195 |
| 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 |
| ENST00000222481 | 1383 | 419 | 129910532 | 129910628 | 344 | 439 | 96 | 128 |
| ENST00000222481 | 1383 | 419 | 129912915 | 129913017 | 440 | 541 | 128 | 162 |
| ENST00000222481 | 1383 | 419 | 129914988 | 129915087 | 542 | 640 | 162 | 195 |
| 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 |
| P48052 | 96 | 128 | 120 | 122 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AYE |
| P48052 | 96 | 128 | 115 | 419 | Chain | ID=PRO_0000004354;Note=Carboxypeptidase A2 |
| P48052 | 96 | 128 | 95 | 112 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AYE |
| P48052 | 96 | 128 | 126 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 96 | 128 | 19 | 114 | Propeptide | ID=PRO_0000004353;Note=Activation peptide;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8318831;Dbxref=PMID:8318831 |
| P48052 | 96 | 128 | 113 | 115 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AYE |
| P48052 | 128 | 162 | 144 | 151 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 128 | 162 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 128 | 162 | 115 | 419 | Chain | ID=PRO_0000004354;Note=Carboxypeptidase A2 |
| P48052 | 128 | 162 | 126 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 128 | 162 | 141 | 143 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 166 | 168 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 171 | 175 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 115 | 419 | Chain | ID=PRO_0000004354;Note=Carboxypeptidase A2 |
| P48052 | 162 | 195 | 183 | 199 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 179 | 179 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10742178,ECO:0000269|PubMed:9384570;Dbxref=PMID:10742178,PMID:9384570 |
| P48052 | 162 | 195 | 182 | 182 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10742178,ECO:0000269|PubMed:9384570;Dbxref=PMID:10742178,PMID:9384570 |
| P48052 | 162 | 195 | 179 | 182 | Region | Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P00730 |
| 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 |
| P48052 | 96 | 128 | 120 | 122 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AYE |
| P48052 | 96 | 128 | 115 | 419 | Chain | ID=PRO_0000004354;Note=Carboxypeptidase A2 |
| P48052 | 96 | 128 | 95 | 112 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AYE |
| P48052 | 96 | 128 | 126 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 96 | 128 | 19 | 114 | Propeptide | ID=PRO_0000004353;Note=Activation peptide;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8318831;Dbxref=PMID:8318831 |
| P48052 | 96 | 128 | 113 | 115 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AYE |
| P48052 | 128 | 162 | 144 | 151 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 128 | 162 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 128 | 162 | 115 | 419 | Chain | ID=PRO_0000004354;Note=Carboxypeptidase A2 |
| P48052 | 128 | 162 | 126 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 128 | 162 | 141 | 143 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 166 | 168 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 171 | 175 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 115 | 419 | Chain | ID=PRO_0000004354;Note=Carboxypeptidase A2 |
| P48052 | 162 | 195 | 183 | 199 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DTD |
| P48052 | 162 | 195 | 179 | 179 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10742178,ECO:0000269|PubMed:9384570;Dbxref=PMID:10742178,PMID:9384570 |
| P48052 | 162 | 195 | 182 | 182 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10742178,ECO:0000269|PubMed:9384570;Dbxref=PMID:10742178,PMID:9384570 |
| P48052 | 162 | 195 | 179 | 182 | Region | Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P00730 |
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SNVs in the skipped exons for CPA2 |
| - 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 |
| UCEC | TCGA-BS-A0TE-01 | exon_skip_471238 | 129910533 | 129910628 | 129910564 | 129910564 | Frame_Shift_Del | T | - | p.L107fs |
| BLCA | TCGA-CU-A0YR-01 | exon_skip_471252 | 129919303 | 129919502 | 129919306 | 129919318 | Frame_Shift_Del | CTGGAGCCAGCAG | - | p.P264fs |
| BLCA | TCGA-CU-A0YR-01 | exon_skip_471252 | 129919303 | 129919502 | 129919306 | 129919318 | Frame_Shift_Del | CTGGAGCCAGCAG | - | p.PGASS264fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_471252 | 129919303 | 129919502 | 129919457 | 129919457 | Frame_Shift_Del | C | - | p.F314fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_471253 | 129921944 | 129922028 | 129921957 | 129921957 | Frame_Shift_Del | A | - | p.Q334fs |
| BLCA | TCGA-MV-A51V-01 | exon_skip_471238 | 129910533 | 129910628 | 129910554 | 129910554 | Nonsense_Mutation | G | T | p.E104* |
| STAD | TCGA-BR-8680-01 | exon_skip_471238 | 129910533 | 129910628 | 129910557 | 129910557 | Nonsense_Mutation | G | T | p.E105* |
| STAD | TCGA-BR-8680-01 | exon_skip_471238 | 129910533 | 129910628 | 129910557 | 129910557 | Nonsense_Mutation | G | T | p.E105X |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_471244 | 129912916 | 129913017 | 129912925 | 129912925 | Nonsense_Mutation | G | T | p.E132* |
| - 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 |
| NCIH2342_LUNG | 129908769 | 129908850 | 129908836 | 129908836 | Missense_Mutation | C | A | p.Q47K |
| COGN278_AUTONOMIC_GANGLIA | 129908769 | 129908850 | 129908846 | 129908846 | Missense_Mutation | T | G | p.L50R |
| MSTO211H_PLEURA | 129910533 | 129910628 | 129910589 | 129910589 | Missense_Mutation | T | G | p.S115R |
| HS944T_SKIN | 129912916 | 129913017 | 129912931 | 129912931 | Missense_Mutation | G | A | p.D134N |
| NB17_AUTONOMIC_GANGLIA | 129912916 | 129913017 | 129912944 | 129912944 | Missense_Mutation | C | A | p.A138D |
| TMK1_STOMACH | 129914989 | 129915087 | 129915006 | 129915006 | Missense_Mutation | C | G | p.D168E |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129919303 | 129919502 | 129919469 | 129919469 | Nonsense_Mutation | C | A | p.Y318* |
| SNU719_STOMACH | 129914989 | 129915087 | 129914989 | 129914989 | Splice_Site | T | G | p.F163V |
| SNU719_STOMACH | 129921944 | 129922028 | 129922027 | 129922027 | Splice_Site | C | T | p.I357I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CPA2 |
| 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 CPA2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPA2 |
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RelatedDrugs for CPA2 |
| 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 CPA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CPA2 | C0242184 | Hypoxia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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