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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for CPVL |
 Gene summary |
| Gene information | Gene symbol | CPVL | Gene ID | 54504 |
| Gene name | carboxypeptidase vitellogenic like | |
| Synonyms | HVLP | |
| Cytomap | 7p14.3 | |
| Type of gene | protein-coding | |
| Description | probable serine carboxypeptidase CPVLCP-Mac carboxypeptidaseVCP-like proteincarboxypeptidase WUGvitellogenic carboxypeptidase-like protein | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for CPVL |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000106066
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000396276.7 | CPVL-202:protein_coding:CPVL | 3.719357e+01 | 1.062586e+00 | 1.706009e-04 | 4.053957e-03 |
| CB | DOWN | ENST00000432534.5 | CPVL-204:protein_coding:CPVL | 5.673707e+01 | -1.740625e+00 | 4.248678e-06 | 5.110802e-05 |
| CB | DOWN | ENST00000455893.6 | CPVL-210:protein_coding:CPVL | 1.229127e+01 | -1.630854e+00 | 8.471166e-04 | 4.489100e-03 |
| CB | DOWN | ENST00000447426.1 | CPVL-206:protein_coding:CPVL | 1.847764e+00 | -1.256669e+00 | 5.839461e-03 | 2.237371e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CPVL |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_149884 | chr7 | 29072398:29072423:29086484:29086550:29092623:29092702 | 29086484:29086550 |
| exon_skip_153212 | chr7 | 29064061:29064234:29066023:29066121:29071773:29071845 | 29066023:29066121 |
| exon_skip_154654 | chr7 | 29030577:29030759:29064061:29064234:29071773:29071845 | 29064061:29064234 |
| exon_skip_166077 | chr7 | 29184421:29184548:29185513:29185597:29186447:29186547 | 29185513:29185597 |
| exon_skip_168508 | chr7 | 29030577:29030759:29064061:29064234:29066023:29066121 | 29064061:29064234 |
| exon_skip_270549 | chr7 | 28995637:28995882:29030577:29030759:29064061:29064234 | 29030577:29030759 |
| exon_skip_278609 | chr7 | 29096103:29096217:29112704:29112822:29120893:29121071 | 29112704:29112822 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for CPVL |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000265394 | 29112704 | 29112822 | Frame-shift |
| ENST00000396276 | 29112704 | 29112822 | Frame-shift |
| ENST00000409850 | 29112704 | 29112822 | Frame-shift |
| ENST00000265394 | 29064061 | 29064234 | In-frame |
| ENST00000396276 | 29064061 | 29064234 | In-frame |
| ENST00000409850 | 29064061 | 29064234 | In-frame |
| ENST00000265394 | 29066023 | 29066121 | In-frame |
| ENST00000396276 | 29066023 | 29066121 | In-frame |
| ENST00000409850 | 29066023 | 29066121 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000409850 | 29185513 | 29185597 | 3UTR-3UTR |
| ENST00000265394 | 29086484 | 29086550 | Frame-shift |
| ENST00000396276 | 29086484 | 29086550 | Frame-shift |
| ENST00000409850 | 29086484 | 29086550 | Frame-shift |
| ENST00000265394 | 29112704 | 29112822 | Frame-shift |
| ENST00000396276 | 29112704 | 29112822 | Frame-shift |
| ENST00000409850 | 29112704 | 29112822 | Frame-shift |
| ENST00000265394 | 29030577 | 29030759 | In-frame |
| ENST00000396276 | 29030577 | 29030759 | In-frame |
| ENST00000409850 | 29030577 | 29030759 | In-frame |
| ENST00000265394 | 29064061 | 29064234 | In-frame |
| ENST00000396276 | 29064061 | 29064234 | In-frame |
| ENST00000409850 | 29064061 | 29064234 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CPVL |
p-ENSG00000106066_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000265394 | 2108 | 476 | 29066023 | 29066121 | 984 | 1081 | 288 | 320 |
| ENST00000396276 | 1756 | 476 | 29066023 | 29066121 | 1032 | 1129 | 288 | 320 |
| ENST00000409850 | 2230 | 476 | 29066023 | 29066121 | 1512 | 1609 | 288 | 320 |
| ENST00000265394 | 2108 | 476 | 29064061 | 29064234 | 1083 | 1255 | 321 | 378 |
| ENST00000396276 | 1756 | 476 | 29064061 | 29064234 | 1131 | 1303 | 321 | 378 |
| ENST00000409850 | 2230 | 476 | 29064061 | 29064234 | 1611 | 1783 | 321 | 378 |
| Loci of skipped exons in MSBB 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 Mayo 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 |
| ENST00000265394 | 2108 | 476 | 29064061 | 29064234 | 1083 | 1255 | 321 | 378 |
| ENST00000396276 | 1756 | 476 | 29064061 | 29064234 | 1131 | 1303 | 321 | 378 |
| ENST00000409850 | 2230 | 476 | 29064061 | 29064234 | 1611 | 1783 | 321 | 378 |
| ENST00000265394 | 2108 | 476 | 29030577 | 29030759 | 1257 | 1438 | 379 | 439 |
| ENST00000396276 | 1756 | 476 | 29030577 | 29030759 | 1305 | 1486 | 379 | 439 |
| ENST00000409850 | 2230 | 476 | 29030577 | 29030759 | 1785 | 1966 | 379 | 439 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q9H3G5 | 288 | 320 | 307 | 307 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3G5 | 288 | 320 | 307 | 307 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3G5 | 288 | 320 | 307 | 307 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3G5 | 321 | 378 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
| Q9H3G5 | 321 | 378 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
| Q9H3G5 | 321 | 378 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| Q9H3G5 | 321 | 378 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
| Q9H3G5 | 321 | 378 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
| Q9H3G5 | 321 | 378 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
| Q9H3G5 | 379 | 439 | 388 | 388 | Active site | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10074 |
| Q9H3G5 | 379 | 439 | 388 | 388 | Active site | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10074 |
| Q9H3G5 | 379 | 439 | 388 | 388 | Active site | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10074 |
| Q9H3G5 | 379 | 439 | 398 | 398 | Natural variant | ID=VAR_048683;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11401439,ECO:0000269|Ref.2;Dbxref=dbSNP:rs1052200,PMID:11401439 |
| Q9H3G5 | 379 | 439 | 398 | 398 | Natural variant | ID=VAR_048683;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11401439,ECO:0000269|Ref.2;Dbxref=dbSNP:rs1052200,PMID:11401439 |
| Q9H3G5 | 379 | 439 | 398 | 398 | Natural variant | ID=VAR_048683;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11401439,ECO:0000269|Ref.2;Dbxref=dbSNP:rs1052200,PMID:11401439 |
| Q9H3G5 | 379 | 439 | 435 | 435 | Natural variant | ID=VAR_022612;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:16303743;Dbxref=dbSNP:rs7313,PMID:15489334,PMID:16303743 |
| Q9H3G5 | 379 | 439 | 435 | 435 | Natural variant | ID=VAR_022612;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:16303743;Dbxref=dbSNP:rs7313,PMID:15489334,PMID:16303743 |
| Q9H3G5 | 379 | 439 | 435 | 435 | Natural variant | ID=VAR_022612;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:16303743;Dbxref=dbSNP:rs7313,PMID:15489334,PMID:16303743 |
| Q9H3G5 | 379 | 439 | 422 | 422 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H3G5 | 379 | 439 | 422 | 422 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H3G5 | 379 | 439 | 422 | 422 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H3G5 | 379 | 439 | 438 | 438 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H3G5 | 379 | 439 | 438 | 438 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H3G5 | 379 | 439 | 438 | 438 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CPVL |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000409850 | 29185513 | 29185597 | hsa-miR-3161 | chr7:29185566-29185573 | 8mer-1a | chr7:29185549-29185573 | 159.00 | -16.39 |
| Mayo | ENST00000409850 | 29185513 | 29185597 | hsa-miR-3919 | chr7:29185547-29185554 | 8mer-1a | chr7:29185534-29185554 | 152.00 | -13.93 |
| Mayo | ENST00000409850 | 29185513 | 29185597 | hsa-miR-653-5p | chr7:29185530-29185537 | 8mer-1a | chr7:29185517-29185537 | 140.00 | -11.76 |
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SNVs in the skipped exons for CPVL |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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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AD stage-associated exon skippint events for CPVL |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CPVL |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CPVL |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | MATR3 | exon_skip_16899 | 4.101353e-01 | 2.731368e-07 |
| CB | HNRNPA2B1 | exon_skip_16899 | 4.927726e-01 | 2.646448e-10 |
| CB | EIF4G2 | exon_skip_16899 | 5.016412e-01 | 1.119356e-10 |
| CB | SRSF1 | exon_skip_16899 | 4.590864e-01 | 5.605861e-09 |
| CB | ZCRB1 | exon_skip_16899 | 4.099174e-01 | 2.775305e-07 |
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RelatedDrugs for CPVL |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CPVL |
| 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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