|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for CETP |
 Gene summary |
| Gene information | Gene symbol | CETP | Gene ID | 1071 |
| Gene name | cholesteryl ester transfer protein | |
| Synonyms | BPIFF|HDLCQ10 | |
| Cytomap | 16q13 | |
| Type of gene | protein-coding | |
| Description | cholesteryl ester transfer proteinBPI fold containing family Fcholesteryl ester transfer protein plasmalipid transfer protein I | |
| Modification date | 20200322 | |
| UniProtAcc | ||
| Context | - 16096813(Cholesteryl Ester Transfer Protein (CETP) Polymorphism Modifies the Alzheimer's Disease Risk Associated With APOE epsilon4 Allele) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CETP | GO:0006641 | triglyceride metabolic process | 2833496 |
| CETP | GO:0006869 | lipid transport | 3818596 |
| CETP | GO:0008203 | cholesterol metabolic process | 2833496 |
| CETP | GO:0030301 | cholesterol transport | 24293641 |
| CETP | GO:0032376 | positive regulation of cholesterol transport | 2833496 |
| CETP | GO:0034197 | triglyceride transport | 24293641 |
| CETP | GO:0034372 | very-low-density lipoprotein particle remodeling | 2833496|24293641 |
| CETP | GO:0034374 | low-density lipoprotein particle remodeling | 2833496 |
| CETP | GO:0034375 | high-density lipoprotein particle remodeling | 24293641 |
| CETP | GO:0046470 | phosphatidylcholine metabolic process | 2833496 |
| CETP | GO:0055088 | lipid homeostasis | 3818596 |
| CETP | GO:0055091 | phospholipid homeostasis | 2833496 |
| CETP | GO:0070328 | triglyceride homeostasis | 2833496 |
| CETP | GO:2001140 | positive regulation of phospholipid transport | 2833496 |
Top |
Gene structures and expression levels for CETP |
| 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. |
 |
ENSG00000087237
| 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 |
| PG | UP | 3.416932e+00 | 8.545340e-01 | 1.720538e-05 | 2.259053e-04 |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000650358.1 | CETP-205:retained_intron:CETP | 1.564408e+00 | 1.129456e+00 | 1.421254e-04 | 3.555560e-03 |
| PG | UP | ENST00000379780.6 | CETP-202:protein_coding:CETP | 1.247151e+00 | 1.061159e+00 | 1.237063e-03 | 1.702831e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CETP |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_215016 | chr16 | 56969386:56969520:56969611:56969681:56969914:56970001 | 56969611:56969681 |
| exon_skip_44093 | chr16 | 56971992:56972083:56973331:56973510:56975101:56975151 | 56973331:56973510 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CETP |
| 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 |
| ENST00000200676 | 56973331 | 56973510 | 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 |
| ENST00000200676 | 56969611 | 56969681 | Frame-shift |
| ENST00000200676 | 56973331 | 56973510 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CETP |
p-ENSG00000087237_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 |
| ENST00000200676 | 1808 | 493 | 56973331 | 56973510 | 882 | 1060 | 250 | 310 |
| 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 |
| ENST00000200676 | 1808 | 493 | 56973331 | 56973510 | 882 | 1060 | 250 | 310 |
| 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 |
| P11597 | 250 | 310 | 251 | 310 | Alternative sequence | ID=VSP_023645;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.7 |
| P11597 | 250 | 310 | 252 | 255 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 274 | 283 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 300 | 304 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 18 | 493 | Chain | ID=PRO_0000017155;Note=Cholesteryl ester transfer protein |
| P11597 | 250 | 310 | 257 | 257 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 |
| P11597 | 250 | 310 | 269 | 271 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 284 | 296 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 306 | 315 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 282 | 282 | Mutagenesis | Note=Not secreted. F->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17237796;Dbxref=PMID:17237796 |
| P11597 | 250 | 310 | 287 | 287 | Mutagenesis | Note=Not secreted. F->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17237796;Dbxref=PMID:17237796 |
| P11597 | 250 | 310 | 309 | 309 | Mutagenesis | Note=Not secreted. F->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17237796;Dbxref=PMID:17237796 |
| P11597 | 250 | 310 | 299 | 299 | Natural variant | ID=VAR_033100;Note=In HALP1%3B reduced secretion into plasma. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12091484;Dbxref=dbSNP:rs142459781,PMID:12091484 |
| 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 |
| P11597 | 250 | 310 | 251 | 310 | Alternative sequence | ID=VSP_023645;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.7 |
| P11597 | 250 | 310 | 252 | 255 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 274 | 283 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 300 | 304 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 18 | 493 | Chain | ID=PRO_0000017155;Note=Cholesteryl ester transfer protein |
| P11597 | 250 | 310 | 257 | 257 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 |
| P11597 | 250 | 310 | 269 | 271 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 284 | 296 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 306 | 315 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OBD |
| P11597 | 250 | 310 | 282 | 282 | Mutagenesis | Note=Not secreted. F->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17237796;Dbxref=PMID:17237796 |
| P11597 | 250 | 310 | 287 | 287 | Mutagenesis | Note=Not secreted. F->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17237796;Dbxref=PMID:17237796 |
| P11597 | 250 | 310 | 309 | 309 | Mutagenesis | Note=Not secreted. F->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17237796;Dbxref=PMID:17237796 |
| P11597 | 250 | 310 | 299 | 299 | Natural variant | ID=VAR_033100;Note=In HALP1%3B reduced secretion into plasma. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12091484;Dbxref=dbSNP:rs142459781,PMID:12091484 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in CETP |
| 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 |
Top |
SNVs in the skipped exons for CETP |
| - 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 |
Top |
AD stage-associated exon skippint events for CETP |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CETP |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for CETP |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for CETP |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for CETP |
| 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)
|