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Gene: CPS1 |
Gene summary for CPS1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | CPS1 | Gene ID | 1373 |
Gene name | carbamoyl-phosphate synthase 1 | |
Gene Alias | CPSASE1 | |
Cytomap | 2q34 | |
Gene Type | protein-coding | GO ID | GO:0000050 | UniProtAcc | P31327 |
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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 |
1373 | CPS1 | NAFLD1 | Human | Liver | NAFLD | 6.52e-14 | 1.39e+00 | -0.04 |
1373 | CPS1 | S41 | Human | Liver | Cirrhotic | 5.18e-09 | 1.11e+00 | -0.0343 |
1373 | CPS1 | S44 | Human | Liver | HCC | 1.02e-12 | 1.48e+00 | -0.0083 |
1373 | CPS1 | HCC1_Meng | Human | Liver | HCC | 1.76e-21 | -6.12e-01 | 0.0246 |
1373 | CPS1 | HCC2_Meng | Human | Liver | HCC | 3.58e-14 | -6.22e-01 | 0.0107 |
1373 | CPS1 | cirrhotic1 | Human | Liver | Cirrhotic | 9.67e-14 | -6.04e-01 | 0.0202 |
1373 | CPS1 | cirrhotic2 | Human | Liver | Cirrhotic | 2.29e-16 | -5.58e-01 | 0.0201 |
1373 | CPS1 | cirrhotic3 | Human | Liver | Cirrhotic | 7.62e-07 | -5.96e-01 | 0.0215 |
1373 | CPS1 | HCC1 | Human | Liver | HCC | 1.24e-10 | -3.63e-01 | 0.5336 |
1373 | CPS1 | HCC2 | Human | Liver | HCC | 4.55e-16 | 3.70e+00 | 0.5341 |
1373 | CPS1 | Pt13.a | Human | Liver | HCC | 4.18e-28 | -3.18e-01 | 0.021 |
1373 | CPS1 | Pt13.b | Human | Liver | HCC | 6.88e-31 | -3.15e-01 | 0.0251 |
1373 | CPS1 | Pt14.b | Human | Liver | HCC | 3.86e-14 | 4.27e-02 | 0.018 |
1373 | CPS1 | Pt14.d | Human | Liver | HCC | 2.91e-16 | -4.64e-01 | 0.0143 |
1373 | CPS1 | S014 | Human | Liver | HCC | 6.89e-05 | -5.15e-01 | 0.2254 |
1373 | CPS1 | S016 | Human | Liver | HCC | 9.10e-06 | -6.17e-01 | 0.2243 |
1373 | CPS1 | S028 | Human | Liver | HCC | 3.24e-02 | -5.85e-01 | 0.2503 |
1373 | CPS1 | S029 | Human | Liver | HCC | 9.37e-03 | -6.23e-01 | 0.2581 |
1373 | CPS1 | Pat01-B | Human | Stomach | GC | 1.57e-15 | 3.35e-01 | 0.5754 |
1373 | CPS1 | Pat02-B | Human | Stomach | GC | 8.23e-12 | 2.74e-01 | 0.0368 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000963612 | Liver | Cirrhotic | response to toxic substance | 104/4634 | 262/18723 | 5.63e-08 | 1.74e-06 | 104 |
GO:000941012 | Liver | Cirrhotic | response to xenobiotic stimulus | 165/4634 | 462/18723 | 6.82e-08 | 2.09e-06 | 165 |
GO:19016051 | Liver | Cirrhotic | alpha-amino acid metabolic process | 82/4634 | 195/18723 | 7.72e-08 | 2.30e-06 | 82 |
GO:004343412 | Liver | Cirrhotic | response to peptide hormone | 149/4634 | 414/18723 | 1.70e-07 | 4.49e-06 | 149 |
GO:005138411 | Liver | Cirrhotic | response to glucocorticoid | 65/4634 | 148/18723 | 2.53e-07 | 6.41e-06 | 65 |
GO:007137511 | Liver | Cirrhotic | cellular response to peptide hormone stimulus | 110/4634 | 290/18723 | 3.73e-07 | 8.82e-06 | 110 |
GO:004873212 | Liver | Cirrhotic | gland development | 154/4634 | 436/18723 | 4.03e-07 | 9.42e-06 | 154 |
GO:003196011 | Liver | Cirrhotic | response to corticosteroid | 70/4634 | 167/18723 | 7.73e-07 | 1.62e-05 | 70 |
GO:190165311 | Liver | Cirrhotic | cellular response to peptide | 129/4634 | 359/18723 | 1.23e-06 | 2.49e-05 | 129 |
GO:004424212 | Liver | Cirrhotic | cellular lipid catabolic process | 82/4634 | 214/18723 | 6.91e-06 | 1.08e-04 | 82 |
GO:000652011 | Liver | Cirrhotic | cellular amino acid metabolic process | 103/4634 | 284/18723 | 8.88e-06 | 1.30e-04 | 103 |
GO:007054211 | Liver | Cirrhotic | response to fatty acid | 32/4634 | 64/18723 | 1.13e-05 | 1.60e-04 | 32 |
GO:00086521 | Liver | Cirrhotic | cellular amino acid biosynthetic process | 36/4634 | 76/18723 | 1.55e-05 | 2.11e-04 | 36 |
GO:19016071 | Liver | Cirrhotic | alpha-amino acid biosynthetic process | 33/4634 | 68/18723 | 1.84e-05 | 2.49e-04 | 33 |
GO:001604212 | Liver | Cirrhotic | lipid catabolic process | 112/4634 | 320/18723 | 2.31e-05 | 3.03e-04 | 112 |
GO:00091121 | Liver | Cirrhotic | nucleobase metabolic process | 20/4634 | 34/18723 | 2.41e-05 | 3.14e-04 | 20 |
GO:00715481 | Liver | Cirrhotic | response to dexamethasone | 21/4634 | 39/18723 | 9.13e-05 | 9.74e-04 | 21 |
GO:00000961 | Liver | Cirrhotic | sulfur amino acid metabolic process | 19/4634 | 34/18723 | 1.01e-04 | 1.05e-03 | 19 |
GO:00062061 | Liver | Cirrhotic | pyrimidine nucleobase metabolic process | 11/4634 | 16/18723 | 2.58e-04 | 2.30e-03 | 11 |
GO:00011013 | Liver | Cirrhotic | response to acid chemical | 52/4634 | 135/18723 | 2.65e-04 | 2.36e-03 | 52 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0120010 | Liver | NAFLD | Carbon metabolism | 26/1043 | 115/8465 | 1.39e-03 | 1.71e-02 | 1.38e-02 | 26 |
hsa0120011 | Liver | NAFLD | Carbon metabolism | 26/1043 | 115/8465 | 1.39e-03 | 1.71e-02 | 1.38e-02 | 26 |
hsa0120021 | Liver | Cirrhotic | Carbon metabolism | 64/2530 | 115/8465 | 6.37e-09 | 1.18e-07 | 7.26e-08 | 64 |
hsa012304 | Liver | Cirrhotic | Biosynthesis of amino acids | 35/2530 | 75/8465 | 1.54e-03 | 7.83e-03 | 4.83e-03 | 35 |
hsa0120031 | Liver | Cirrhotic | Carbon metabolism | 64/2530 | 115/8465 | 6.37e-09 | 1.18e-07 | 7.26e-08 | 64 |
hsa0123011 | Liver | Cirrhotic | Biosynthesis of amino acids | 35/2530 | 75/8465 | 1.54e-03 | 7.83e-03 | 4.83e-03 | 35 |
hsa0120041 | Liver | HCC | Carbon metabolism | 89/4020 | 115/8465 | 3.92e-11 | 6.56e-10 | 3.65e-10 | 89 |
hsa0123021 | Liver | HCC | Biosynthesis of amino acids | 53/4020 | 75/8465 | 3.79e-05 | 2.11e-04 | 1.18e-04 | 53 |
hsa0120051 | Liver | HCC | Carbon metabolism | 89/4020 | 115/8465 | 3.92e-11 | 6.56e-10 | 3.65e-10 | 89 |
hsa0123031 | Liver | HCC | Biosynthesis of amino acids | 53/4020 | 75/8465 | 3.79e-05 | 2.11e-04 | 1.18e-04 | 53 |
hsa00220 | Stomach | GC | Arginine biosynthesis | 6/708 | 22/8465 | 7.81e-03 | 4.10e-02 | 2.88e-02 | 6 |
hsa002201 | Stomach | GC | Arginine biosynthesis | 6/708 | 22/8465 | 7.81e-03 | 4.10e-02 | 2.88e-02 | 6 |
hsa00910 | Stomach | SIM | Nitrogen metabolism | 5/465 | 17/8465 | 1.75e-03 | 1.33e-02 | 1.07e-02 | 5 |
hsa009101 | Stomach | SIM | Nitrogen metabolism | 5/465 | 17/8465 | 1.75e-03 | 1.33e-02 | 1.07e-02 | 5 |
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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 |
CPS1 | SNV | Missense_Mutation | novel | c.3547G>C | p.Glu1183Gln | p.E1183Q | P31327 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
CPS1 | SNV | Missense_Mutation | novel | c.1277N>C | p.Val426Ala | p.V426A | P31327 | protein_coding | tolerated(0.45) | benign(0.001) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
CPS1 | SNV | Missense_Mutation | novel | c.2698N>G | p.Leu900Val | p.L900V | P31327 | protein_coding | tolerated(0.22) | benign(0.005) | TCGA-A7-A4SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
CPS1 | SNV | Missense_Mutation | c.1212N>G | p.Ile404Met | p.I404M | P31327 | protein_coding | tolerated(0.06) | benign(0.054) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
CPS1 | SNV | Missense_Mutation | c.3843N>A | p.Phe1281Leu | p.F1281L | P31327 | protein_coding | tolerated(0.57) | benign(0.306) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
CPS1 | SNV | Missense_Mutation | c.2039A>T | p.Asn680Ile | p.N680I | P31327 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A8-A09D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR | |
CPS1 | SNV | Missense_Mutation | c.3166N>A | p.Gly1056Ser | p.G1056S | P31327 | protein_coding | tolerated(0.99) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
CPS1 | SNV | Missense_Mutation | rs376091629 | c.581N>G | p.Gln194Arg | p.Q194R | P31327 | protein_coding | tolerated(0.17) | benign(0.014) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | rs774692248 | c.3655C>A | p.Gln1219Lys | p.Q1219K | P31327 | protein_coding | deleterious(0) | possibly_damaging(0.571) | TCGA-B6-A40B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | novel | c.1760N>A | p.Gly587Asp | p.G587D | P31327 | protein_coding | deleterious(0) | possibly_damaging(0.764) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | 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 |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | sodium phenylbutyrate | |||
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | Polidocanol - BioForm Medical/Chemische Fabrik Kreussler & Co | |||
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | positive modulator | CHEMBL1201780 | CARGLUMIC ACID | |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | sodium benzoate / sodium phenylacetate | |||
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | l-methionine | METHIONINE | 24651765 | |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | valproic acid | 20456087 | ||
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | Sodium Phenylbutyrate | |||
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | Carglumic acid | |||
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | antiepileptics | 20456087 |
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