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Gene: ASS1 |
Gene summary for ASS1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | ASS1 | Gene ID | 445 |
Gene name | argininosuccinate synthase 1 | |
Gene Alias | ASS | |
Cytomap | 9q34.11 | |
Gene Type | protein-coding | GO ID | GO:0000050 | UniProtAcc | P00966 |
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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 |
445 | ASS1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.75e-06 | 4.09e-01 | 0.0155 |
445 | ASS1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.83e-26 | 1.56e+00 | -0.1808 |
445 | ASS1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.81e-12 | 1.02e+00 | -0.0811 |
445 | ASS1 | HTA11_78_2000001011 | Human | Colorectum | AD | 5.84e-09 | 7.92e-01 | -0.1088 |
445 | ASS1 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.68e-23 | 8.04e-01 | -0.1954 |
445 | ASS1 | HTA11_411_2000001011 | Human | Colorectum | SER | 2.22e-10 | 2.03e+00 | -0.2602 |
445 | ASS1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.41e-16 | 1.85e+00 | -0.2196 |
445 | ASS1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 8.59e-11 | 7.77e-01 | -0.1207 |
445 | ASS1 | HTA11_83_2000001011 | Human | Colorectum | SER | 3.58e-05 | 7.37e-01 | -0.1526 |
445 | ASS1 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.15e-45 | 1.30e+00 | -0.1464 |
445 | ASS1 | HTA11_866_2000001011 | Human | Colorectum | AD | 4.61e-14 | 7.44e-01 | -0.1001 |
445 | ASS1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.11e-42 | 1.76e+00 | -0.059 |
445 | ASS1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 5.68e-11 | 1.04e+00 | -0.1706 |
445 | ASS1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.94e-10 | 1.00e+00 | -0.2061 |
445 | ASS1 | HTA11_546_2000001011 | Human | Colorectum | AD | 1.07e-04 | 6.59e-01 | -0.0842 |
445 | ASS1 | HTA11_866_3004761011 | Human | Colorectum | AD | 5.92e-03 | 3.72e-01 | 0.096 |
445 | ASS1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 6.55e-08 | 6.67e-01 | 0.0338 |
445 | ASS1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.45e-15 | 7.57e-01 | 0.0674 |
445 | ASS1 | HTA11_6818_2000001011 | Human | Colorectum | AD | 2.07e-06 | 6.38e-01 | 0.0112 |
445 | ASS1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.25e-06 | 4.58e-01 | 0.294 |
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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:000758416 | Skin | cSCC | response to nutrient | 63/4864 | 174/18723 | 1.78e-03 | 1.08e-02 | 63 |
GO:007122921 | Skin | cSCC | cellular response to acid chemical | 33/4864 | 80/18723 | 2.04e-03 | 1.21e-02 | 33 |
GO:00436486 | Skin | cSCC | dicarboxylic acid metabolic process | 38/4864 | 96/18723 | 2.38e-03 | 1.38e-02 | 38 |
GO:190165514 | Skin | cSCC | cellular response to ketone | 38/4864 | 96/18723 | 2.38e-03 | 1.38e-02 | 38 |
GO:007135625 | Skin | cSCC | cellular response to tumor necrosis factor | 79/4864 | 229/18723 | 2.48e-03 | 1.42e-02 | 79 |
GO:004668323 | Skin | cSCC | response to organophosphorus | 48/4864 | 131/18723 | 4.49e-03 | 2.30e-02 | 48 |
GO:00086526 | Skin | cSCC | cellular amino acid biosynthetic process | 30/4864 | 76/18723 | 6.79e-03 | 3.29e-02 | 30 |
GO:000716224 | Skin | cSCC | negative regulation of cell adhesion | 98/4864 | 303/18723 | 7.45e-03 | 3.50e-02 | 98 |
GO:0009636110 | Skin | cSCC | response to toxic substance | 86/4864 | 262/18723 | 7.66e-03 | 3.57e-02 | 86 |
GO:003235523 | Skin | cSCC | response to estradiol | 50/4864 | 141/18723 | 7.85e-03 | 3.65e-02 | 50 |
GO:00713988 | Skin | cSCC | cellular response to fatty acid | 17/4864 | 38/18723 | 9.41e-03 | 4.25e-02 | 17 |
GO:00096366 | Stomach | GC | response to toxic substance | 50/1159 | 262/18723 | 7.42e-13 | 2.69e-10 | 50 |
GO:00094106 | Stomach | GC | response to xenobiotic stimulus | 61/1159 | 462/18723 | 1.68e-08 | 1.43e-06 | 61 |
GO:00100386 | Stomach | GC | response to metal ion | 52/1159 | 373/18723 | 3.24e-08 | 2.44e-06 | 52 |
GO:0031960 | Stomach | GC | response to corticosteroid | 30/1159 | 167/18723 | 1.18e-07 | 7.16e-06 | 30 |
GO:0051384 | Stomach | GC | response to glucocorticoid | 27/1159 | 148/18723 | 3.64e-07 | 1.90e-05 | 27 |
GO:00224076 | Stomach | GC | regulation of cell-cell adhesion | 55/1159 | 448/18723 | 9.21e-07 | 4.39e-05 | 55 |
GO:0071356 | Stomach | GC | cellular response to tumor necrosis factor | 34/1159 | 229/18723 | 1.85e-06 | 8.24e-05 | 34 |
GO:00316676 | Stomach | GC | response to nutrient levels | 56/1159 | 474/18723 | 2.47e-06 | 1.06e-04 | 56 |
GO:0034612 | Stomach | GC | response to tumor necrosis factor | 35/1159 | 253/18723 | 6.68e-06 | 2.54e-04 | 35 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05418 | Colorectum | AD | Fluid shear stress and atherosclerosis | 54/2092 | 139/8465 | 1.41e-04 | 1.16e-03 | 7.37e-04 | 54 |
hsa01230 | Colorectum | AD | Biosynthesis of amino acids | 28/2092 | 75/8465 | 9.99e-03 | 3.89e-02 | 2.48e-02 | 28 |
hsa054181 | Colorectum | AD | Fluid shear stress and atherosclerosis | 54/2092 | 139/8465 | 1.41e-04 | 1.16e-03 | 7.37e-04 | 54 |
hsa012301 | Colorectum | AD | Biosynthesis of amino acids | 28/2092 | 75/8465 | 9.99e-03 | 3.89e-02 | 2.48e-02 | 28 |
hsa054182 | Colorectum | SER | Fluid shear stress and atherosclerosis | 40/1580 | 139/8465 | 2.28e-03 | 1.75e-02 | 1.27e-02 | 40 |
hsa012302 | Colorectum | SER | Biosynthesis of amino acids | 23/1580 | 75/8465 | 8.11e-03 | 4.14e-02 | 3.01e-02 | 23 |
hsa054183 | Colorectum | SER | Fluid shear stress and atherosclerosis | 40/1580 | 139/8465 | 2.28e-03 | 1.75e-02 | 1.27e-02 | 40 |
hsa012303 | Colorectum | SER | Biosynthesis of amino acids | 23/1580 | 75/8465 | 8.11e-03 | 4.14e-02 | 3.01e-02 | 23 |
hsa054184 | Colorectum | MSS | Fluid shear stress and atherosclerosis | 51/1875 | 139/8465 | 6.06e-05 | 5.80e-04 | 3.55e-04 | 51 |
hsa054185 | Colorectum | MSS | Fluid shear stress and atherosclerosis | 51/1875 | 139/8465 | 6.06e-05 | 5.80e-04 | 3.55e-04 | 51 |
hsa05418211 | Esophagus | ESCC | Fluid shear stress and atherosclerosis | 109/4205 | 139/8465 | 2.00e-12 | 3.72e-11 | 1.90e-11 | 109 |
hsa0123023 | Esophagus | ESCC | Biosynthesis of amino acids | 49/4205 | 75/8465 | 4.35e-03 | 1.12e-02 | 5.74e-03 | 49 |
hsa05418310 | Esophagus | ESCC | Fluid shear stress and atherosclerosis | 109/4205 | 139/8465 | 2.00e-12 | 3.72e-11 | 1.90e-11 | 109 |
hsa0123033 | Esophagus | ESCC | Biosynthesis of amino acids | 49/4205 | 75/8465 | 4.35e-03 | 1.12e-02 | 5.74e-03 | 49 |
hsa0541814 | Liver | NAFLD | Fluid shear stress and atherosclerosis | 30/1043 | 139/8465 | 1.37e-03 | 1.71e-02 | 1.38e-02 | 30 |
hsa0541815 | Liver | NAFLD | Fluid shear stress and atherosclerosis | 30/1043 | 139/8465 | 1.37e-03 | 1.71e-02 | 1.38e-02 | 30 |
hsa0541822 | Liver | Cirrhotic | Fluid shear stress and atherosclerosis | 62/2530 | 139/8465 | 1.53e-04 | 1.06e-03 | 6.54e-04 | 62 |
hsa012304 | Liver | Cirrhotic | Biosynthesis of amino acids | 35/2530 | 75/8465 | 1.54e-03 | 7.83e-03 | 4.83e-03 | 35 |
hsa0541832 | Liver | Cirrhotic | Fluid shear stress and atherosclerosis | 62/2530 | 139/8465 | 1.53e-04 | 1.06e-03 | 6.54e-04 | 62 |
hsa0123011 | Liver | Cirrhotic | Biosynthesis of amino acids | 35/2530 | 75/8465 | 1.54e-03 | 7.83e-03 | 4.83e-03 | 35 |
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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 |
ASS1 | SNV | Missense_Mutation | c.836G>C | p.Arg279Pro | p.R279P | P00966 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | SD | ||
ASS1 | insertion | Nonsense_Mutation | novel | c.938_939insACGGTGAGGCCTGAGGAACTCCCGAGGGATTTGA | p.Gly314ArgfsTer2 | p.G314Rfs*2 | P00966 | protein_coding | TCGA-BH-A0HX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adrimycin | SD | ||
ASS1 | SNV | Missense_Mutation | rs771937610 | c.1088N>A | p.Arg363Gln | p.R363Q | P00966 | protein_coding | deleterious(0.04) | benign(0.164) | TCGA-FU-A23K-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
ASS1 | SNV | Missense_Mutation | rs183276875 | c.919N>T | p.Arg307Cys | p.R307C | P00966 | protein_coding | tolerated(0.06) | possibly_damaging(0.85) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ASS1 | SNV | Missense_Mutation | c.440N>C | p.Met147Thr | p.M147T | P00966 | protein_coding | tolerated(0.31) | benign(0.015) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD | |
ASS1 | SNV | Missense_Mutation | c.856N>A | p.Ala286Thr | p.A286T | P00966 | protein_coding | deleterious(0) | probably_damaging(0.949) | TCGA-F4-6856-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | CR | |
ASS1 | SNV | Missense_Mutation | novel | c.637N>G | p.Pro213Ala | p.P213A | P00966 | protein_coding | deleterious(0.02) | possibly_damaging(0.801) | TCGA-AG-3881-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ASS1 | SNV | Missense_Mutation | c.717N>T | p.Lys239Asn | p.K239N | P00966 | protein_coding | tolerated(0.32) | benign(0.009) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
ASS1 | SNV | Missense_Mutation | novel | c.627N>T | p.Lys209Asn | p.K209N | P00966 | protein_coding | tolerated(0.08) | possibly_damaging(0.734) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ASS1 | SNV | Missense_Mutation | novel | c.896N>T | p.Ala299Val | p.A299V | P00966 | protein_coding | tolerated(0.19) | benign(0.003) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | 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 |
445 | ASS1 | ENZYME, DRUG RESISTANCE | CHLOROQUINE | CHLOROQUINE | 27735949 | |
445 | ASS1 | ENZYME, DRUG RESISTANCE | PLATINUM COMPOUND | 19533750 | ||
445 | ASS1 | ENZYME, DRUG RESISTANCE | Sodium Phenylbutyrate | |||
445 | ASS1 | ENZYME, DRUG RESISTANCE | sodium phenylbutyrate | |||
445 | ASS1 | ENZYME, DRUG RESISTANCE | sodium benzoate / sodium phenylacetate | |||
445 | ASS1 | ENZYME, DRUG RESISTANCE | PEGARGIMINASE | PEGARGIMINASE | 27735949 |
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