|
||||||
|
 | |
| |
| |
| |
| 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 CPB2 |
 Gene summary |
| Gene information | Gene symbol | CPB2 | Gene ID | 1361 |
| Gene name | carboxypeptidase B2 | |
| Synonyms | CPU|PCPB|TAFI | |
| Cytomap | 13q14.13 | |
| Type of gene | protein-coding | |
| Description | carboxypeptidase B2carboxypeptidase B-like proteincarboxypeptidase B2 (plasma)carboxypeptidase B2 (plasma, carboxypeptidase U)carboxypeptidase Rthrombin-activable fibrinolysis inhibitorthrombin-activatable fibrinolysis inhibitor | |
| Modification date | 20180523 | |
| UniProtAcc | Q96IY4 | |
| Context | PubMed: CPB2 [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 CPB2 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 CPB2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for CPB2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103505 | 13 | 46632313:46632516:46638782:46638876:46641441:46641552 | 46638782:46638876 | ENSG00000080618.9 | ENST00000181383.4 |
| exon_skip_103506 | 13 | 46632313:46632516:46638782:46638876:46648007:46648112 | 46638782:46638876 | ENSG00000080618.9 | ENST00000439329.3 |
| exon_skip_103509 | 13 | 46638782:46638876:46641441:46641552:46648007:46648112 | 46641441:46641552 | ENSG00000080618.9 | ENST00000181383.4 |
| exon_skip_103511 | 13 | 46641441:46641552:46648007:46648112:46652934:46653036 | 46648007:46648112 | ENSG00000080618.9 | ENST00000181383.4 |
| exon_skip_103514 | 13 | 46648007:46648112:46652934:46653036:46656575:46656684 | 46652934:46653036 | ENSG00000080618.9 | ENST00000439329.3,ENST00000181383.4 |
| exon_skip_103515 | 13 | 46652934:46653036:46656575:46656684:46658353:46658478 | 46656575:46656684 | ENSG00000080618.9 | ENST00000439329.3,ENST00000181383.4 |
| exon_skip_103520 | 13 | 46658353:46658478:46661879:46661955:46679070:46679161 | 46661879:46661955 | ENSG00000080618.9 | ENST00000439329.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for CPB2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103505 | 13 | 46632313:46632516:46638782:46638876:46641441:46641552 | 46638782:46638876 | ENSG00000080618.9 | ENST00000181383.4 |
| exon_skip_103506 | 13 | 46632313:46632516:46638782:46638876:46648007:46648112 | 46638782:46638876 | ENSG00000080618.9 | ENST00000439329.3 |
| exon_skip_103509 | 13 | 46638782:46638876:46641441:46641552:46648007:46648112 | 46641441:46641552 | ENSG00000080618.9 | ENST00000181383.4 |
| exon_skip_103511 | 13 | 46641441:46641552:46648007:46648112:46652934:46653036 | 46648007:46648112 | ENSG00000080618.9 | ENST00000181383.4 |
| exon_skip_103514 | 13 | 46648007:46648112:46652934:46653036:46656575:46656684 | 46652934:46653036 | ENSG00000080618.9 | ENST00000181383.4,ENST00000439329.3 |
| exon_skip_103515 | 13 | 46652934:46653036:46656575:46656684:46658353:46658478 | 46656575:46656684 | ENSG00000080618.9 | ENST00000181383.4,ENST00000439329.3 |
| exon_skip_103520 | 13 | 46658353:46658478:46661879:46661955:46679070:46679161 | 46661879:46661955 | ENSG00000080618.9 | ENST00000439329.3 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CPB2 |
| 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 |
| ENST00000181383 | 46638782 | 46638876 | Frame-shift |
| ENST00000181383 | 46656575 | 46656684 | Frame-shift |
| ENST00000181383 | 46641441 | 46641552 | In-frame |
| ENST00000181383 | 46648007 | 46648112 | In-frame |
| ENST00000181383 | 46652934 | 46653036 | 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 |
| ENST00000181383 | 46638782 | 46638876 | Frame-shift |
| ENST00000181383 | 46656575 | 46656684 | Frame-shift |
| ENST00000181383 | 46641441 | 46641552 | In-frame |
| ENST00000181383 | 46648007 | 46648112 | In-frame |
| ENST00000181383 | 46652934 | 46653036 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CPB2 |
| 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 |
| ENST00000181383 | 1734 | 423 | 46652934 | 46653036 | 402 | 503 | 128 | 162 |
| ENST00000181383 | 1734 | 423 | 46648007 | 46648112 | 504 | 608 | 162 | 197 |
| ENST00000181383 | 1734 | 423 | 46641441 | 46641552 | 609 | 719 | 197 | 234 |
| 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 |
| ENST00000181383 | 1734 | 423 | 46652934 | 46653036 | 402 | 503 | 128 | 162 |
| ENST00000181383 | 1734 | 423 | 46648007 | 46648112 | 504 | 608 | 162 | 197 |
| ENST00000181383 | 1734 | 423 | 46641441 | 46641552 | 609 | 719 | 197 | 234 |
| 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 |
| Q96IY4 | 128 | 162 | 144 | 151 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 128 | 162 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 128 | 162 | 115 | 423 | Chain | ID=PRO_0000004378;Note=Carboxypeptidase B2 |
| Q96IY4 | 128 | 162 | 126 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 128 | 162 | 141 | 143 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 162 | 197 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 162 | 197 | 172 | 177 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 162 | 197 | 115 | 423 | Chain | ID=PRO_0000004378;Note=Carboxypeptidase B2 |
| Q96IY4 | 162 | 197 | 178 | 191 | Disulfide bond | Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18559974,ECO:0000269|PubMed:20088943;Dbxref=PMID:18559974,PMID:20088943 |
| Q96IY4 | 162 | 197 | 186 | 201 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 162 | 197 | 181 | 181 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18559974,ECO:0000269|PubMed:20088943;Dbxref=PMID:18559974,PMID:20088943 |
| Q96IY4 | 162 | 197 | 184 | 184 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18559974,ECO:0000269|PubMed:20088943;Dbxref=PMID:18559974,PMID:20088943 |
| Q96IY4 | 162 | 197 | 169 | 169 | Natural variant | ID=VAR_032565;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:1939207;Dbxref=dbSNP:rs3742264,PMID:14702039,PMID:1939207 |
| Q96IY4 | 162 | 197 | 181 | 184 | Region | Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P00730 |
| Q96IY4 | 197 | 234 | 198 | 234 | Alternative sequence | ID=VSP_013446;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q96IY4 | 197 | 234 | 215 | 221 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 197 | 234 | 115 | 423 | Chain | ID=PRO_0000004378;Note=Carboxypeptidase B2 |
| Q96IY4 | 197 | 234 | 186 | 201 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 197 | 234 | 206 | 214 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 197 | 234 | 225 | 233 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 197 | 234 | 202 | 204 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| 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 |
| Q96IY4 | 128 | 162 | 144 | 151 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 128 | 162 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 128 | 162 | 115 | 423 | Chain | ID=PRO_0000004378;Note=Carboxypeptidase B2 |
| Q96IY4 | 128 | 162 | 126 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 128 | 162 | 141 | 143 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 162 | 197 | 157 | 163 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 162 | 197 | 172 | 177 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 162 | 197 | 115 | 423 | Chain | ID=PRO_0000004378;Note=Carboxypeptidase B2 |
| Q96IY4 | 162 | 197 | 178 | 191 | Disulfide bond | Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18559974,ECO:0000269|PubMed:20088943;Dbxref=PMID:18559974,PMID:20088943 |
| Q96IY4 | 162 | 197 | 186 | 201 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 162 | 197 | 181 | 181 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18559974,ECO:0000269|PubMed:20088943;Dbxref=PMID:18559974,PMID:20088943 |
| Q96IY4 | 162 | 197 | 184 | 184 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18559974,ECO:0000269|PubMed:20088943;Dbxref=PMID:18559974,PMID:20088943 |
| Q96IY4 | 162 | 197 | 169 | 169 | Natural variant | ID=VAR_032565;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:1939207;Dbxref=dbSNP:rs3742264,PMID:14702039,PMID:1939207 |
| Q96IY4 | 162 | 197 | 181 | 184 | Region | Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P00730 |
| Q96IY4 | 197 | 234 | 198 | 234 | Alternative sequence | ID=VSP_013446;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q96IY4 | 197 | 234 | 215 | 221 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 197 | 234 | 115 | 423 | Chain | ID=PRO_0000004378;Note=Carboxypeptidase B2 |
| Q96IY4 | 197 | 234 | 186 | 201 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 197 | 234 | 206 | 214 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 197 | 234 | 225 | 233 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
| Q96IY4 | 197 | 234 | 202 | 204 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P10 |
Top |
SNVs in the skipped exons for CPB2 |
| - 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 |
| BLCA | TCGA-2F-A9KT-01 | exon_skip_103506 exon_skip_103505 | 46638783 | 46638876 | 46638788 | 46638788 | Nonsense_Mutation | C | T | p.W264* |
| LUSC | TCGA-18-3409-01 | exon_skip_103506 exon_skip_103505 | 46638783 | 46638876 | 46638865 | 46638865 | Nonsense_Mutation | C | T | p.W238* |
| LUSC | TCGA-18-3409-01 | exon_skip_103506 exon_skip_103505 | 46638783 | 46638876 | 46638866 | 46638866 | Nonsense_Mutation | C | T | p.W238* |
| LGG | TCGA-DU-6392-01 | exon_skip_103506 exon_skip_103505 | 46638783 | 46638876 | 46638873 | 46638873 | Nonsense_Mutation | G | A | p.R236* |
| STAD | TCGA-BR-8680-01 | exon_skip_103514 | 46652935 | 46653036 | 46653021 | 46653021 | Nonsense_Mutation | C | A | p.E134* |
| STAD | TCGA-BR-8680-01 | exon_skip_103514 | 46652935 | 46653036 | 46653021 | 46653021 | Nonsense_Mutation | C | A | p.E134X |
| UCEC | TCGA-A5-A0VP-01 | exon_skip_103515 | 46656576 | 46656684 | 46656596 | 46656596 | Nonsense_Mutation | G | A | p.Q122* |
| BLCA | TCGA-BT-A20J-01 | exon_skip_103515 | 46656576 | 46656684 | 46656653 | 46656653 | Nonsense_Mutation | G | A | p.Q103* |
| HNSC | TCGA-CV-7242-01 | exon_skip_103520 | 46661880 | 46661955 | 46661882 | 46661882 | Nonsense_Mutation | C | A | p.E50* |
| STAD | TCGA-CG-5728-01 | exon_skip_103520 | 46661880 | 46661955 | 46661878 | 46661878 | Splice_Site | A | G | . |
| STAD | TCGA-CG-5728-01 | exon_skip_103520 | 46661880 | 46661955 | 46661878 | 46661878 | Splice_Site | A | G | p.E50_splice |
| STAD | TCGA-BR-6452-01 | exon_skip_103520 | 46661880 | 46661955 | 46661956 | 46661956 | Splice_Site | C | T | . |
| STAD | TCGA-BR-6452-01 | exon_skip_103520 | 46661880 | 46661955 | 46661956 | 46661956 | Splice_Site | C | T | p.S25_splice |
| - 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 |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46638783 | 46638876 | 46638851 | 46638851 | Missense_Mutation | G | T | p.S243Y |
| HCC2998_LARGE_INTESTINE | 46638783 | 46638876 | 46638872 | 46638872 | Missense_Mutation | C | T | p.R236Q |
| Y79_AUTONOMIC_GANGLIA | 46648008 | 46648112 | 46648076 | 46648076 | Missense_Mutation | A | C | p.W175G |
| OACP4C_OESOPHAGUS | 46652935 | 46653036 | 46652978 | 46652978 | Missense_Mutation | T | C | p.H148R |
| WM2664_SKIN | 46656576 | 46656684 | 46656674 | 46656674 | Missense_Mutation | C | A | p.A96S |
| HT115_LARGE_INTESTINE | 46638783 | 46638876 | 46638873 | 46638873 | Nonsense_Mutation | G | A | p.R236* |
| HCC2998_LARGE_INTESTINE | 46652935 | 46653036 | 46653021 | 46653021 | Nonsense_Mutation | C | A | p.E134* |
| MDAMB453_BREAST | 46656576 | 46656684 | 46656586 | 46656586 | Nonsense_Mutation | G | C | p.S125* |
| RKO_LARGE_INTESTINE | 46641442 | 46641552 | 46641443 | 46641443 | Splice_Site | T | - | p.K234fs |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CPB2 |
| 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 |
| exon_skip_103515 | 13 | 46652934:46653036:46656575:46656684:46658353:46658478 | 46656575:46656684 | ENST00000439329.3,ENST00000181383.4 | LIHC | rs2296642 | chr13:46656669 | A/G | 7.79e-56 |
| exon_skip_103511 | 13 | 46641441:46641552:46648007:46648112:46652934:46653036 | 46648007:46648112 | ENST00000181383.4 | LIHC | rs3742264 | chr13:46648094 | C/T | 1.25e-09 |
| exon_skip_103509 | 13 | 46638782:46638876:46641441:46641552:46648007:46648112 | 46641441:46641552 | ENST00000181383.4 | LIHC | rs7337140 | chr13:46641481 | C/T | 1.40e-53 |
| exon_skip_103509 | 13 | 46638782:46638876:46641441:46641552:46648007:46648112 | 46641441:46641552 | ENST00000181383.4 | LIHC | rs9316179 | chr13:46641466 | C/T | 1.25e-11 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPB2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPB2 |
Top |
RelatedDrugs for CPB2 |
| 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 CPB2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CPB2 | C0002453 | Amenorrhea | 1 | CTD_human |
| CPB2 | C0028754 | Obesity | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|