TissGeneSummary for PCSK9 |
Gene summary |
Basic gene information | Gene symbol | PCSK9 |
Gene name | proprotein convertase subtilisin/kexin type 9 | |
Synonyms | FH3|HCHOLA3|LDLCQ1|NARC-1|NARC1|PC9 | |
Cytomap | UCSC genome browser: 1p32.3 | |
Type of gene | protein-coding | |
RefGenes | NM_174936.3, NR_110451.1, | |
Description | convertase subtilisin/kexin type 9 preproproteinneural apoptosis regulated convertase 1subtilisin/kexin-like protease PC9 | |
Modification date | 20141222 | |
dbXrefs | MIM : 607786 | |
HGNC : HGNC | ||
Ensembl : ENSG00000169174 | ||
HPRD : 07080 | ||
Vega : OTTHUMG00000008136 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PCSK9 | |
BioGPS: 255738 | ||
Pathway | NCI Pathway Interaction Database: PCSK9 | |
KEGG: PCSK9 | ||
REACTOME: PCSK9 | ||
Pathway Commons: PCSK9 | ||
Context | iHOP: PCSK9 | |
ligand binding site mutation search in PubMed: PCSK9 | ||
UCL Cancer Institute: PCSK9 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | CervixLiver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | CESCLIHC | |
Reference showing the relevant tissue of PCSK9 | ||
Description by TissGene annotations | Have significant anti-correlated miRNA |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID | GO:0001920 | negative regulation of receptor recycling | 17452316 | GO:0002092 | positive regulation of receptor internalization | 17328821 | GO:0007041 | lysosomal transport | 17452316 | GO:0010469 | regulation of receptor activity | 17328821 | GO:0010989 | negative regulation of low-density lipoprotein particle clearance | 17328821 | GO:0016540 | protein autoprocessing | 14622975 | GO:0032802 | low-density lipoprotein particle receptor catabolic process | 16912035 | GO:0001920 | negative regulation of receptor recycling | 17452316 | GO:0002092 | positive regulation of receptor internalization | 17328821 | GO:0007041 | lysosomal transport | 17452316 | GO:0010469 | regulation of receptor activity | 17328821 | GO:0010989 | negative regulation of low-density lipoprotein particle clearance | 17328821 | GO:0016540 | protein autoprocessing | 14622975 | GO:0032802 | low-density lipoprotein particle receptor catabolic process | 16912035 |
Top |
TissGeneExp for PCSK9 |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
PRAD | -2.639536565 | -1.276753872 | -1.362782692 | 6.85E-08 | 6.70E-07 |
KIRP | -3.442892815 | -1.306717815 | -2.136175 | 2.70E-12 | 4.11E-11 |
HNSC | 5.14988611 | 2.159430296 | 2.990455814 | 1.60E-10 | 3.16E-09 |
LUAD | 1.927997056 | 5.309412573 | -3.381415517 | 2.08E-16 | 2.46E-15 |
COAD | 5.64785382 | 2.965080743 | 2.682773077 | 2.46E-08 | 1.97E-07 |
KIRC | -3.323575453 | -1.455026842 | -1.868548611 | 2.63E-16 | 1.47E-15 |
STAD | 3.829413435 | 1.56491031 | 2.264503125 | 0.000467 | 0.002867935 |
ESCA | 4.677415708 | 0.130388435 | 4.547027273 | 5.99E-05 | 0.002183895 |
Top |
TissGene-miRNA for PCSK9 |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
LUAD | hsa-miR-155-5p | MIMAT0000646 | 0.011 | -0.33 | 60 |
Top |
TissGeneMut for PCSK9 |
TissGeneSNV for PCSK9 |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.A53V | PCPG | 3 |
p.D169N | SKCM | 2 |
p.D321N | SKCM | 2 |
p.E269* | UCEC | 1 |
p.P288L | SKCM | 1 |
p.R93C | PRAD | 1 |
p.G292E | SKCM | 1 |
p.G316C | LUAD | 1 |
p.L22F | PAAD | 1 |
p.D141N | UCS | 1 |
p.E57K | DLBC | 1 |
p.A598T | UCEC | 1 |
p.R680G | LUSC | 1 |
p.A594T | LIHC | 1 |
p.A475T | LUSC | 1 |
p.E144K | SKCM | 1 |
p.M399V | LGG | 1 |
p.A396T | PAAD | 1 |
p.E210A | SKCM | 1 |
p.A402V | GBM | 1 |
p.V233L | OV | 1 |
p.G227D | SKCM | 1 |
p.G236D | HNSC | 1 |
p.F418L | BLCA | 1 |
p.R680L | THYM | 1 |
p.T385I | UCEC | 1 |
p.S666N | KIRC | 1 |
p.V140A | UCEC | 1 |
p.P71S | SKCM | 1 |
p.A522V | SKCM | 1 |
p.Q256E | HNSC | 1 |
p.E403K | BLCA | 1 |
p.E84K | SKCM | 1 |
p.T162S | OV | 1 |
p.S401Y | COAD | 1 |
p.R104H | STAD | 1 |
p.G232R | SKCM | 1 |
p.E195K | SKCM | 1 |
p.R237Q | SKCM | 1 |
p.A647V | SKCM | 1 |
p.H139R | UCEC | 1 |
p.S257L | LUAD | 1 |
p.H139Y | ESCA | 1 |
p.R264K | SKCM | 1 |
p.E431K | BLCA | 1 |
p.S329L | BLCA | 1 |
p.E366K | SKCM | 1 |
p.P120S | SKCM | 1 |
p.R167L | OV | 1 |
p.S91T | LUSC | 1 |
p.R295G | SARC | 1 |
p.R303C | ESCA | 1 |
p.D422Y | UCS | 1 |
p.E206K | STAD | 1 |
p.L16P | SKCM | 1 |
p.R469W | STAD | 1 |
p.S91T | KIRC | 1 |
p.A53V | BRCA | 1 |
p.R165L | LUAD | 1 |
p.V296I | PRAD | 1 |
p.R218T | BLCA | 1 |
p.E620V | OV | 1 |
p.R96H | UCEC | 1 |
p.R469W | UCEC | 1 |
p.P404Q | OV | 1 |
p.S91L | KIRC | 1 |
p.V79M | UCEC | 1 |
p.D343Y | SARC | 1 |
Top |
TissGeneCNV for PCSK9 |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
Top |
TissGeneFusions for PCSK9 |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Top |
TissGeneNet for PCSK9 |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
Top |
TissGeneProg for PCSK9 |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Top |
TissGeneClin for PCSK9 |
TissGeneDrug for PCSK9 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB09302 | Alirocumab | Inhibitor | Biotech | Approved |
Top |
TissGeneDisease for PCSK9 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0020445 | Hypercholesterolemia, Familial | 76 | BeFree,CLINVAR,GAD,LHGDN |
umls:C0020443 | Hypercholesterolemia | 55 | BeFree,CTD_human,GAD,LHGDN |
umls:C0010068 | Coronary heart disease | 43 | BeFree,GAD,LHGDN |
umls:C0745103 | Hyperlipoproteinemia Type IIa | 34 | BeFree |
umls:C0010054 | Coronary Arteriosclerosis | 28 | BeFree,GAD |
umls:C0007222 | Cardiovascular Diseases | 20 | BeFree,GAD,LHGDN |
umls:C0004153 | Atherosclerosis | 16 | BeFree,GAD,LHGDN |
umls:C1956346 | Coronary Artery Disease | 15 | BeFree,CTD_human,GAD |
umls:C0003850 | Arteriosclerosis | 14 | BeFree |
umls:C0242339 | Dyslipidemias | 13 | BeFree,LHGDN |
umls:C0027051 | Myocardial Infarction | 7 | BeFree,GAD,LHGDN |
umls:C0020597 | Hypobetalipoproteinemias | 5 | BeFree |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 4 | BeFree,GAD |
umls:C0038454 | Cerebrovascular accident | 4 | BeFree,GAD,LHGDN |
umls:C1862596 | Familial hypobetalipoproteinemia | 4 | BeFree |
umls:C0020473 | Hyperlipidemia | 3 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 3 | BeFree |
umls:C0948008 | Ischemic stroke | 3 | BeFree |
umls:C0948089 | Acute Coronary Syndrome | 3 | BeFree,GAD |
umls:C1863551 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 | 3 | CLINVAR,CTD_human,UNIPROT |
umls:C3272363 | Ischemic Cerebrovascular Accident | 3 | BeFree |
umls:C0001430 | Adenoma | 2 | BeFree |
umls:C0020474 | Hyperlipidemia, Familial Combined | 2 | BeFree |
umls:C0023903 | Liver neoplasms | 2 | BeFree |
umls:C0025202 | melanoma | 2 | BeFree |
umls:C0042373 | Vascular Diseases | 2 | BeFree |
umls:C0342880 | Polygenic hypercholesterolemia | 2 | BeFree |
umls:C1704417 | Hyperlipoproteinemia Type IIb | 2 | BeFree |
umls:C1854107 | Hyperaldosteronism, Familial, Type II | 2 | BeFree |
umls:C2239176 | Liver carcinoma | 2 | BeFree |
umls:C0000744 | Abetalipoproteinemia | 1 | BeFree |
umls:C0008350 | Cholelithiasis | 1 | BeFree |
umls:C0020459 | Hyperinsulinism | 1 | BeFree |
umls:C0022661 | Kidney Failure, Chronic | 1 | GAD |
umls:C0023895 | Liver diseases | 1 | BeFree |
umls:C0027404 | Narcolepsy | 1 | GAD |
umls:C0027708 | Nephroblastoma | 1 | GWASCAT |
umls:C0028754 | Obesity | 1 | BeFree |
umls:C0031154 | Peritonitis | 1 | BeFree |
umls:C0033847 | Pseudoxanthoma Elasticum | 1 | BeFree |
umls:C0043325 | Xanthomatosis | 1 | BeFree |
umls:C0085096 | Peripheral Vascular Diseases | 1 | BeFree,GAD |
umls:C0151744 | Myocardial Ischemia | 1 | BeFree,GAD |
umls:C0271650 | Impaired glucose tolerance | 1 | BeFree |
umls:C0302314 | Xanthoma | 1 | BeFree |
umls:C0494165 | Secondary malignant neoplasm of liver | 1 | BeFree |
umls:C0497327 | Dementia | 1 | GAD |
umls:C0497406 | Overweight | 1 | BeFree |
umls:C0524910 | Hepatitis C, Chronic | 1 | BeFree |
umls:C0577631 | Carotid Atherosclerosis | 1 | BeFree |
umls:C0751007 | Intracranial Atherosclerosis | 1 | BeFree |
umls:C1096249 | Aortic calcification | 1 | BeFree |
umls:C1301700 | Cardiovascular morbidity | 1 | BeFree |
umls:C1704436 | Peripheral Arterial Diseases | 1 | BeFree |
umls:C1863512 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | 1 | BeFree |
umls:C3665365 | Arteriosclerotic cardiovascular disease, NOS | 1 | BeFree |