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Gene: ENSG00000169174 |
Summary for PCSK9 |
Gene summary |
| Gene information | Ensembl ID | ENSG00000169174 | Gene symbol | PCSK9 |
| Gene name | proprotein convertase subtilisin/kexin type 9 | |
| HGNC | 20001 | |
| Entrez ID | 255738 | |
| Gene type | protein_coding | |
| Synonyms | PCSK9|NARC-1|FH3 | |
| UniProtAcc | Q8NBP7 |
Drugs associated with this gene(DrugBank). |
| Gene ID | Gene Symbol | Drug ID | Drug Name | Drug Type |
| ENSG00000169174 | PCSK9 | DB09302 | Alirocumab | BiotechDrug |
| ENSG00000169174 | PCSK9 | DB09303 | Evolocumab | BiotechDrug |
| ENSG00000169174 | PCSK9 | DB14901 | Inclisiran | BiotechDrug |
Cancer therapeutic drugs associated with this gene(NCI). |
| Gene ID | Gene Name | Drug ID | Drug Name | Drug Type | Cancer |
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Structure and expression level for PCSK9 |
AS events and RNA A-to-I editing events of the gene in TCGA based on Genvode V22 structure.∗For more information on exon skipping events please check the ExonskipDB database. ∗For more information on exon skipping events please check the CAeditome database. |
Landscape of gene expressions across multiple cancer types. |
Differentially expressed gene analysis between tumor male and tumor female samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
Differentially expressed gene analysis between tumor male and normal male samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| PCSK9 | 2.89e+02 | 2.71e+00 | 7.83e-01 | 3.47e+00 | 5.30e-04 | 1.90e-03 | BLCA |
| PCSK9 | 2.53e+03 | 3.28e+00 | 5.45e-01 | 6.01e+00 | 1.87e-09 | 1.33e-07 | ESCA |
| PCSK9 | 1.46e+03 | -1.58e+00 | 6.79e-01 | -2.33e+00 | 2.01e-02 | 4.49e-02 | CHOL |
Differentially expressed gene analysis between tumor female and normal female samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| PCSK9 | 2.62e+03 | 2.90e+00 | 5.66e-01 | 5.13e+00 | 2.96e-07 | 3.03e-06 | READ |
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Sex-biased somatic mutation for PCSK9 |
| ∗For more information on exon skipping events please check the ExonskipDB database. |
| Gene ID | Cancer Type | Hugo Symbol | Male | Female | pval | or | ci.up | ci.low | adjPval |
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DNA methylation with beta values for PCSK9 |
Landscape of DNA methylation across multiple cancer types. |
Differentially expressed CpG sites between male tumor and female tumor patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| BRCA | cg17167852 | chr1:55039516 | CGI:chr1:55039387-55040342 | promoter | 1.42e-01 | 3.99e-01 | -3.64e+00 | 2.76e-04 | 3.90e-03 | -2.57e-01 |
| BRCA | cg08920610 | chr1:55039670 | CGI:chr1:55039387-55040342 | UTR,promoter,exon,gene body | 6.17e-02 | 2.08e-01 | -2.84e+00 | 4.48e-03 | 1.95e-02 | -1.46e-01 |
| BRCA | cg19249107 | chr1:55040281 | CGI:chr1:55039387-55040342 | promoter,gene body | 1.78e-01 | 4.57e-01 | -2.83e+00 | 4.63e-03 | 1.97e-02 | -2.79e-01 |
| BRCA | cg14993491 | chr1:55039298 | CGI:chr1:55039387-55040342 | promoter | 4.00e-01 | 5.87e-01 | -2.75e+00 | 5.96e-03 | 2.19e-02 | -1.88e-01 |
| BRCA | cg06197377 | chr1:55039388 | CGI:chr1:55039387-55040342 | promoter | 3.57e-01 | 5.92e-01 | -3.79e+00 | 1.49e-04 | 2.35e-03 | -2.36e-01 |
| BRCA | cg05118916 | chr1:55039390 | CGI:chr1:55039387-55040342 | promoter | 3.46e-01 | 5.27e-01 | -3.33e+00 | 8.56e-04 | 8.59e-03 | -1.82e-01 |
| BRCA | cg26666107 | chr1:55039400 | CGI:chr1:55039387-55040342 | promoter | 2.13e-01 | 3.88e-01 | -3.10e+00 | 1.91e-03 | 1.33e-02 | -1.75e-01 |
| BRCA | cg13191808 | chr1:55039654 | CGI:chr1:55039387-55040342 | UTR,promoter,exon,gene body | 1.27e-01 | 2.43e-01 | -2.06e+00 | 3.96e-02 | 4.58e-02 | -1.16e-01 |
| GBM | cg14993491 | chr1:55039298 | CGI:chr1:55039387-55040342 | promoter | 5.02e-01 | 6.34e-01 | -2.07e+00 | 3.85e-02 | 4.56e-02 | -1.32e-01 |
| KICH | cg01444643 | chr1:55039175 | CGI:chr1:55039387-55040342 | promoter | 4.75e-01 | 5.96e-01 | -2.50e+00 | 1.23e-02 | 3.01e-02 | -1.21e-01 |
| KICH | cg26047355 | chr1:55039185 | CGI:chr1:55039387-55040342 | promoter | 5.00e-01 | 6.87e-01 | -2.58e+00 | 9.76e-03 | 2.67e-02 | -1.87e-01 |
Differentially expressed CpG sites between male tumor and male normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| BLCA | cg26047355 | chr1:55039185 | CGI:chr1:55039387-55040342 | promoter | 6.33e-01 | 7.55e-01 | -2.53e+00 | 1.15e-02 | 1.58e-02 | -1.22e-01 |
| BLCA | cg14977608 | chr1:55040839 | CGI:chr1:55039387-55040342 | promoter,gene body | 3.32e-01 | 4.63e-01 | -3.29e+00 | 1.01e-03 | 2.29e-03 | -1.31e-01 |
| CHOL | cg01444643 | chr1:55039175 | CGI:chr1:55039387-55040342 | promoter | 5.87e-01 | 4.73e-01 | 2.21e+00 | 2.70e-02 | 3.50e-02 | 1.14e-01 |
| CHOL | cg26047355 | chr1:55039185 | CGI:chr1:55039387-55040342 | promoter | 6.13e-01 | 5.02e-01 | 2.14e+00 | 3.25e-02 | 3.87e-02 | 1.11e-01 |
| CHOL | cg14977608 | chr1:55040839 | CGI:chr1:55039387-55040342 | promoter,gene body | 4.87e-01 | 2.95e-01 | 2.21e+00 | 2.70e-02 | 3.50e-02 | 1.92e-01 |
Differentially expressed CpG sites between female tumor and female normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| BRCA | cg19249107 | chr1:55040281 | CGI:chr1:55039387-55040342 | promoter,gene body | 1.78e-01 | 3.51e-02 | 8.09e+00 | 5.99e-16 | 2.35e-15 | 1.42e-01 |
| BRCA | cg17826594 | chr1:55040341 | CGI:chr1:55039387-55040342 | promoter,gene body | 2.20e-01 | 1.15e-01 | 8.37e+00 | 5.62e-17 | 2.39e-16 | 1.05e-01 |
| BLCA | cg14993491 | chr1:55039298 | CGI:chr1:55039387-55040342 | promoter | 1.81e-01 | 3.65e-01 | -3.69e+00 | 2.21e-04 | 2.95e-03 | -1.84e-01 |
| BLCA | cg06197377 | chr1:55039388 | CGI:chr1:55039387-55040342 | promoter | 1.85e-01 | 2.87e-01 | -3.19e+00 | 1.44e-03 | 5.74e-03 | -1.02e-01 |
| BLCA | cg05118916 | chr1:55039390 | CGI:chr1:55039387-55040342 | promoter | 2.00e-01 | 3.09e-01 | -3.33e+00 | 8.81e-04 | 4.56e-03 | -1.08e-01 |
| KIRP | cg01444643 | chr1:55039175 | CGI:chr1:55039387-55040342 | promoter | 6.29e-01 | 5.25e-01 | 2.64e+00 | 8.20e-03 | 1.48e-02 | 1.04e-01 |
| KIRP | cg14993491 | chr1:55039298 | CGI:chr1:55039387-55040342 | promoter | 2.64e-01 | 1.39e-01 | 2.30e+00 | 2.17e-02 | 2.83e-02 | 1.25e-01 |
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Exon skipping events with PSI in TCGA for PCSK9 |
| ∗Please access ExonSkipDB for exon skipping annotation. |
Landscape of exon skipping events across multiple cancer types. |
Differentially expressed exon skipping events between male tumor and female tumor patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
Differentially expressed exon skipping events between male tumor and male normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
Differentially expressed exon skipping events between female tumor and female normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
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RNA A-to-I editing events in TCGA for PCSK9 |
| ∗Please access CAeditome for RNA editing annotation. |
Differentially expressed RNA editing events between male tumor and female tumor patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
Differentially expressed RNA editing events between male tumor and male normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
Differentially expressed RNA editing events between female tumor and female normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
Protein coding RNA editing(s). |
| Editing Position | Variant Type | Gene Symbol | Transcript ID | NTchange | AAchange |
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Sex-biased TF-Gene network for PCSK9 |
TFs related to PCSK9.∗The female-biased TF-gene edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased TF-gene edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
| Cancer Type | TF | Target Gene | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| LGG | ZNF418 | PCSK9 | 3.98e+00 | 9.81e-01 | 2.70e+00 | 1.65e-04 | Male-biased |
PCSK9 related gene.∗Only the gene encode TF might with this result. ∗For more information please check Sex-biased TF-Coding gene network. |
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Sex-biased RBP-ES network for PCSK9 |
RBPs related to ES in PCSK9.∗The female-biased RBP-ES edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased RBP-ES edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
| Cancer Type | RBP | Target ES | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| COAD | SAMD4A | exon_skip_6722 | 7.10e+00 | 9.85e-01 | 6.59e+00 | 1.85e-03 | Male-biased |
PCSK9 related ES.∗Only the gene encode RBP might with this result. ∗For more information please check Sex-biased RBP-ES network in cancer. |
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Sex-biased CeRNA regulation of gene |
Sex-biased CeRNA regulation of gene. |
| Gene ID | ceRNA(lncRNA-miRNA-mRNA) | Group | Cancer Type |
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Sex-biased eQTL regulation of gene |
Sex-biased eQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| eQTL | Description |
Male-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs520872 | chr1:52641790:T:A | - | 0.168968219878766 | 0.000245978939181316 | BLCA | Female-baised eQTL |
| rs4926920 | chr1:52621123:T:C | - | 0.134207913564549 | 0.0176525552102541 | BLCA | Female-baised eQTL |
| rs11206210 | chr1:53719716:C:T | - | 0.238716184532461 | 0.0184589881828928 | BLCA | Female-baised eQTL |
| rs494030 | chr1:52636855:G:A | - | 0.133461194007661 | 0.0184973770549296 | BLCA | Female-baised eQTL |
| rs554870 | chr1:52640385:A:G | - | 0.134134911087619 | 0.0216904180925181 | BLCA | Female-baised eQTL |
| rs479580 | chr1:52639098:G:A | - | 0.133388468216392 | 0.022631470841152 | BLCA | Female-baised eQTL |
| rs11807855 | chr1:52639594:T:A | - | 0.133388468216392 | 0.022631470841152 | BLCA | Female-baised eQTL |
| rs608123 | chr1:52638963:A:G | - | 0.133166614402017 | 0.0241170602261945 | BLCA | Female-baised eQTL |
| rs670978 | chr1:52641872:A:G | - | 0.122355476526594 | 0.0268431624582165 | BLCA | Female-baised eQTL |
| rs61780592 | chr1:52633038:A:T | - | 0.220535676157193 | 0.0283942411407677 | BLCA | Female-baised eQTL |
| rs6699962 | chr1:62386351:T:G | - | -0.17255377166853 | 0.0474481606155805 | BLCA | Female-baised eQTL |
| rs17123728 | chr1:62602628:G:A | - | 0.0430662001728201 | 0.0193230518305808 | LUAD | Female-baised eQTL |
| rs11206237 | chr1:53890688:C:A | - | -0.11817939734765 | 0.0480285688400206 | COAD | Female-baised eQTL |
Female-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs12042029 | chr1:60701809:C:T | - | 0.211723283923547 | 0.00441540579700081 | READ | Male-baised eQTL |
| rs12033693 | chr1:60703438:T:C | - | 0.211723283923547 | 0.00441540579700081 | READ | Male-baised eQTL |
| rs12038037 | chr1:60704630:A:G | - | 0.211723283923547 | 0.00441540579700081 | READ | Male-baised eQTL |
| rs12035908 | chr1:60706076:T:C | - | 0.211723283923547 | 0.00441540579700081 | READ | Male-baised eQTL |
| rs12034905 | chr1:58242275:A:G | - | 0.0769836420711782 | 0.0423932076340865 | LIHC | Male-baised eQTL |
| rs11586792 | chr1:64619318:G:A | - | 0.0527380072353823 | 0.0179386606235942 | LUSC | Male-baised eQTL |
| rs10889401 | chr1:63074996:C:A | - | -0.0266331334007414 | 0.0388186691866441 | BLCA | Male-baised eQTL |
| rs144418684 | chr1:48213109:C:T | - | 0.0712223024596812 | 0.00707586930904032 | LUAD | Male-baised eQTL |
| rs13376323 | chr1:48174126:G:T | - | 0.0748348236381239 | 0.0106994848331796 | LUAD | Male-baised eQTL |
| rs147219045 | chr1:48210866:A:G | - | 0.0687244132356017 | 0.0114511223792563 | LUAD | Male-baised eQTL |
| rs146812907 | chr1:48211332:C:A | - | 0.0687244132356017 | 0.0114511223792563 | LUAD | Male-baised eQTL |
| rs140669185 | chr1:48211349:C:A | - | 0.0687244132356017 | 0.0114511223792563 | LUAD | Male-baised eQTL |
| rs78891222 | chr1:48221812:G:A | - | 0.0706381709859488 | 0.0167484052616859 | LUAD | Male-baised eQTL |
| rs78731792 | chr1:62736973:G:A | - | 0.074016443651798 | 0.0196725307659959 | LUAD | Male-baised eQTL |
| rs17104273 | chr1:48204812:A:G | - | 0.0641791126071143 | 0.020324579901023 | LUAD | Male-baised eQTL |
| rs12027341 | chr1:62738235:G:A | - | 0.073946484554604 | 0.020856645129722 | LUAD | Male-baised eQTL |
| rs11205450 | chr1:48181679:G:A | - | 0.069934120308693 | 0.0219717091568472 | LUAD | Male-baised eQTL |
| rs145748076 | chr1:48211384:A:G | - | 0.0644590051746562 | 0.0241919263495484 | LUAD | Male-baised eQTL |
| rs78427303 | chr1:48242578:C:T | - | 0.0802932635344839 | 0.0290366359619392 | LUAD | Male-baised eQTL |
| rs12081912 | chr1:48216021:G:A | - | 0.0647105154375069 | 0.0343357150383408 | LUAD | Male-baised eQTL |
| rs76414628 | chr1:48217297:C:T | - | 0.0647105154375069 | 0.0343357150383408 | LUAD | Male-baised eQTL |
| rs12091401 | chr1:48218729:T:C | - | 0.0640357614843097 | 0.0372870473974239 | LUAD | Male-baised eQTL |
| rs1524732 | chr1:48220424:C:T | - | 0.0613971694756722 | 0.0467765753976019 | LUAD | Male-baised eQTL |
| rs12239693 | chr1:48169429:C:T | - | 0.0643590967862039 | 0.0493462919650286 | LUAD | Male-baised eQTL |
| rs1891420 | chr1:56867182:A:G | - | 0.143109341111126 | 0.0311211908860292 | COAD | Male-baised eQTL |
| rs77696206 | chr1:56864389:G:A | - | 0.142491256346905 | 0.0324954694581751 | COAD | Male-baised eQTL |
Opposite sex-biased eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Sex-biased Gene in Cancer | Cancer Type |
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Sex-biased eQTM regulation of gene |
Sex-biased eQTM regulation of gene (The figures only show the pairs with FDR<1e-5. For more information please check the below table). |
| eQTM | Description |
| Gene ID: ENSG00000169174 | |
| CpG Site: cg14977608 | |
| Position to Gene: gene,promoter | |
| Male Effect: - | |
| Female Effect: -0.11058046548501 |
Male-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
Female-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| cg14977608 | chr1:55040839 | gene,promoter | -0.11058046548501 | 1.4028093778311e-10 | -0.44733742671273374 | 5.970758731638464e-14 | LUAD |
Opposite sex-biased eQTM regulation. |
| CpG Site | CpG Postion | CpG Island | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Male Cor | Male P-value | Female Cor | Female P-value | Sex-biased Coding Gene | Cancer Type |
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Sex-biased sQTL regulation of gene |
Sex-biased sQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTL | Description |
Male-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
Female-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
Opposite sex-biased sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Male Effect | Male FDR | Female Effect | Female FDR | Cancer Type |
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Sex-biased sQTM regulation of gene |
Sex-biased sQTM regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTM | Description |
Male-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
Female-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
Opposite sex-biased sQTM regulation. |
| EX ID | EX Info | Skipped Exon | CPG Site | CPG Position | CPG Island | Position to EX Events | Male Effect | Male FDR | Female Effect | Female FDR | Male Correlation | Male P-value | Female Correlation | Female P-value | ORF_anno | Cancer Type |
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Related disease information of PCSK9 |
Diseases associated with this gene (DisGeNET). |
| Gene ID | Gene Symbol | Disease ID | Disease Name | Number of PMID | Source |
| ENSG00000169174 | PCSK9 | C0010054 | Coronary Arteriosclerosis | 2 | CTD_human |
| ENSG00000169174 | PCSK9 | C0020443 | Hypercholesterolemia | 1 | CTD_human |
| ENSG00000169174 | PCSK9 | C1863551 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 | 1 | CTD_human |
| ENSG00000169174 | PCSK9 | C1956346 | Coronary Artery Disease | 2 | CTD_human |