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Gene: PCSK1 |
Gene summary for PCSK1 |
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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 |
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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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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 |
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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). |
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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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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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.915G>T | p.Trp305Cys | p.W305C | P29120 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
PCSK1 | SNV | Missense_Mutation | rs200614230 | c.1960C>T | p.Arg654Trp | p.R654W | P29120 | protein_coding | deleterious_low_confidence(0.02) | benign(0.075) | TCGA-AG-3885-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
PCSK1 | SNV | Missense_Mutation | rs759552679 | c.1284G>T | p.Lys428Asn | p.K428N | P29120 | protein_coding | tolerated(0.17) | possibly_damaging(0.88) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PCSK1 | SNV | Missense_Mutation | novel | c.1631N>T | p.Ser544Phe | p.S544F | P29120 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EI-6884-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5 | SD |
PCSK1 | SNV | Missense_Mutation | novel | c.326N>C | p.Lys109Thr | p.K109T | P29120 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
PCSK1 | deletion | Frame_Shift_Del | c.2185delT | p.Tyr729IlefsTer21 | p.Y729Ifs*21 | P29120 | protein_coding | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
PCSK1 | deletion | Frame_Shift_Del | c.2185delT | p.Tyr729IlefsTer21 | p.Y729Ifs*21 | P29120 | protein_coding | TCGA-CM-4746-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |||
PCSK1 | SNV | Missense_Mutation | novel | c.2107N>A | p.Ala703Thr | p.A703T | P29120 | protein_coding | deleterious_low_confidence(0.04) | probably_damaging(0.994) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PCSK1 | SNV | Missense_Mutation | rs567748971 | c.2006G>A | p.Arg669Gln | p.R669Q | P29120 | protein_coding | tolerated_low_confidence(0.12) | benign(0.003) | TCGA-A5-A0GU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PCSK1 | SNV | Missense_Mutation | novel | c.2210N>T | p.Arg737Ile | p.R737I | P29120 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(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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