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Gene: PCSK1 |
Gene summary for PCSK1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PCSK1 | Gene ID | 5122 |
| Gene name | proprotein convertase subtilisin/kexin type 1 | |
| Gene Alias | BMIQ12 | |
| Cytomap | 5q15 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | P29120 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 5122 | PCSK1 | P16T-E | Human | Esophagus | ESCC | 7.57e-48 | 9.73e-01 | 0.1153 |
| 5122 | PCSK1 | P31T-E | Human | Esophagus | ESCC | 3.64e-51 | 1.06e+00 | 0.1251 |
| 5122 | PCSK1 | P38T-E | Human | Esophagus | ESCC | 2.66e-02 | 1.54e-01 | 0.127 |
| 5122 | PCSK1 | P80T-E | Human | Esophagus | ESCC | 3.99e-15 | 4.93e-01 | 0.155 |
| 5122 | PCSK1 | P82T-E | Human | Esophagus | ESCC | 2.06e-06 | 1.40e+00 | 0.1072 |
| 5122 | PCSK1 | P89T-E | Human | Esophagus | ESCC | 5.43e-13 | 7.66e-01 | 0.1752 |
| 5122 | PCSK1 | P104T-E | Human | Esophagus | ESCC | 4.14e-03 | 1.28e+00 | 0.0931 |
| 5122 | PCSK1 | HTA12-15-2 | Human | Pancreas | PDAC | 3.41e-02 | 3.46e-01 | 0.2315 |
| 5122 | PCSK1 | HTA12-23-1 | Human | Pancreas | PDAC | 1.64e-02 | 5.07e-01 | 0.3405 |
| 5122 | PCSK1 | HTA12-25-1 | Human | Pancreas | PDAC | 3.31e-03 | 4.00e-01 | 0.313 |
| 5122 | PCSK1 | HTA12-26-1 | Human | Pancreas | PDAC | 1.84e-14 | 6.42e-01 | 0.3728 |
| 5122 | PCSK1 | HTA12-29-1 | Human | Pancreas | PDAC | 5.76e-18 | 5.01e-01 | 0.3722 |
| 5122 | PCSK1 | HTA12-9-3 | Human | Pancreas | PDAC | 5.32e-04 | 7.41e-01 | 0.2045 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:005254714 | Breast | IDC | regulation of peptidase activity | 96/1434 | 461/18723 | 7.58e-20 | 6.15e-17 | 96 |
| GO:005254814 | Breast | IDC | regulation of endopeptidase activity | 88/1434 | 432/18723 | 1.20e-17 | 4.85e-15 | 88 |
| GO:004586114 | Breast | IDC | negative regulation of proteolysis | 70/1434 | 351/18723 | 8.21e-14 | 2.22e-11 | 70 |
| GO:005134613 | Breast | IDC | negative regulation of hydrolase activity | 71/1434 | 379/18723 | 1.33e-12 | 2.90e-10 | 71 |
| GO:001046613 | Breast | IDC | negative regulation of peptidase activity | 56/1434 | 262/18723 | 1.39e-12 | 2.92e-10 | 56 |
| GO:001095112 | Breast | IDC | negative regulation of endopeptidase activity | 52/1434 | 252/18723 | 3.53e-11 | 5.57e-09 | 52 |
| GO:000926612 | Breast | IDC | response to temperature stimulus | 34/1434 | 178/18723 | 5.88e-07 | 2.83e-05 | 34 |
| GO:003166714 | Breast | IDC | response to nutrient levels | 62/1434 | 474/18723 | 2.33e-05 | 5.57e-04 | 62 |
| GO:000940912 | Breast | IDC | response to cold | 13/1434 | 49/18723 | 5.70e-05 | 1.20e-03 | 13 |
| GO:005160413 | Breast | IDC | protein maturation | 35/1434 | 294/18723 | 6.18e-03 | 4.40e-02 | 35 |
| GO:005254710 | Cervix | CC | regulation of peptidase activity | 112/2311 | 461/18723 | 6.70e-13 | 3.08e-10 | 112 |
| GO:005254810 | Cervix | CC | regulation of endopeptidase activity | 103/2311 | 432/18723 | 1.89e-11 | 5.14e-09 | 103 |
| GO:004586110 | Cervix | CC | negative regulation of proteolysis | 80/2311 | 351/18723 | 2.88e-08 | 1.98e-06 | 80 |
| GO:00513469 | Cervix | CC | negative regulation of hydrolase activity | 81/2311 | 379/18723 | 4.27e-07 | 1.67e-05 | 81 |
| GO:00104669 | Cervix | CC | negative regulation of peptidase activity | 60/2311 | 262/18723 | 1.27e-06 | 4.34e-05 | 60 |
| GO:003166710 | Cervix | CC | response to nutrient levels | 92/2311 | 474/18723 | 5.80e-06 | 1.42e-04 | 92 |
| GO:001095110 | Cervix | CC | negative regulation of endopeptidase activity | 56/2311 | 252/18723 | 7.43e-06 | 1.74e-04 | 56 |
| GO:00516048 | Cervix | CC | protein maturation | 56/2311 | 294/18723 | 5.90e-04 | 5.59e-03 | 56 |
| GO:00092668 | Cervix | CC | response to temperature stimulus | 37/2311 | 178/18723 | 9.45e-04 | 7.95e-03 | 37 |
| GO:00094098 | Cervix | CC | response to cold | 13/2311 | 49/18723 | 5.34e-03 | 3.10e-02 | 13 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| PCSK1 | SNV | Missense_Mutation | c.2245C>G | p.Leu749Val | p.L749V | P29120 | protein_coding | tolerated_low_confidence(0.06) | benign(0.203) | TCGA-AR-A1AJ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| PCSK1 | SNV | Missense_Mutation | novel | c.1012N>A | p.Gly338Ser | p.G338S | P29120 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0EB-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| PCSK1 | SNV | Missense_Mutation | c.184N>A | p.Gly62Ser | p.G62S | P29120 | protein_coding | tolerated(0.07) | benign(0.103) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| PCSK1 | SNV | Missense_Mutation | c.316N>C | p.Glu106Gln | p.E106Q | P29120 | protein_coding | tolerated(0.3) | benign(0.003) | TCGA-EK-A2R7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| PCSK1 | SNV | Missense_Mutation | novel | c.1475G>A | p.Arg492Lys | p.R492K | P29120 | protein_coding | tolerated(1) | benign(0) | TCGA-VS-A9UH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| PCSK1 | SNV | Missense_Mutation | novel | c.1030G>T | p.Ala344Ser | p.A344S | P29120 | protein_coding | tolerated(0.8) | possibly_damaging(0.613) | TCGA-A6-6782-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| PCSK1 | SNV | Missense_Mutation | rs148617898 | c.910N>A | p.Val304Ile | p.V304I | P29120 | protein_coding | tolerated(0.09) | possibly_damaging(0.608) | TCGA-A6-A566-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatin | PD |
| PCSK1 | SNV | Missense_Mutation | rs774886644 | c.2143N>T | p.Asp715Tyr | p.D715Y | P29120 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.452) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| PCSK1 | SNV | Missense_Mutation | c.1226N>G | p.His409Arg | p.H409R | P29120 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| PCSK1 | SNV | Missense_Mutation | c.737C>T | p.Thr246Met | p.T246M | P29120 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 5122 | PCSK1 | DRUGGABLE GENOME, PROTEASE, ENZYME | inhibitor | 178103178 | ||
| 5122 | PCSK1 | DRUGGABLE GENOME, PROTEASE, ENZYME | INSULIN | INSULIN | 7883951,7925129 | |
| 5122 | PCSK1 | DRUGGABLE GENOME, PROTEASE, ENZYME | CALCITONIN | CALCITONIN | 14566018 | |
| 5122 | PCSK1 | DRUGGABLE GENOME, PROTEASE, ENZYME | PHOSPHODIESTERASE INHIBITOR | 8822509 |
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