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Gene: CASP1 |
Gene summary for CASP1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | CASP1 | Gene ID | 834 |
Gene name | caspase 1 | |
Gene Alias | ICE | |
Cytomap | 11q22.3 | |
Gene Type | protein-coding | GO ID | GO:0001666 | UniProtAcc | P29466 |
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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 |
834 | CASP1 | LZE4T | Human | Esophagus | ESCC | 6.72e-07 | 3.67e-01 | 0.0811 |
834 | CASP1 | LZE8T | Human | Esophagus | ESCC | 3.51e-15 | 5.03e-01 | 0.067 |
834 | CASP1 | LZE20T | Human | Esophagus | ESCC | 4.12e-03 | 1.60e-01 | 0.0662 |
834 | CASP1 | LZE22D1 | Human | Esophagus | HGIN | 5.52e-06 | 2.19e-01 | 0.0595 |
834 | CASP1 | LZE22T | Human | Esophagus | ESCC | 3.19e-02 | 4.48e-01 | 0.068 |
834 | CASP1 | LZE24T | Human | Esophagus | ESCC | 1.03e-12 | 4.22e-01 | 0.0596 |
834 | CASP1 | LZE6T | Human | Esophagus | ESCC | 1.38e-09 | 5.83e-01 | 0.0845 |
834 | CASP1 | P1T-E | Human | Esophagus | ESCC | 4.30e-02 | 1.32e-01 | 0.0875 |
834 | CASP1 | P2T-E | Human | Esophagus | ESCC | 5.16e-22 | 2.64e-01 | 0.1177 |
834 | CASP1 | P4T-E | Human | Esophagus | ESCC | 3.59e-27 | 7.51e-01 | 0.1323 |
834 | CASP1 | P5T-E | Human | Esophagus | ESCC | 4.83e-12 | 1.19e-01 | 0.1327 |
834 | CASP1 | P8T-E | Human | Esophagus | ESCC | 2.63e-37 | 8.08e-01 | 0.0889 |
834 | CASP1 | P9T-E | Human | Esophagus | ESCC | 8.77e-20 | 3.00e-01 | 0.1131 |
834 | CASP1 | P10T-E | Human | Esophagus | ESCC | 7.11e-04 | 1.13e-01 | 0.116 |
834 | CASP1 | P11T-E | Human | Esophagus | ESCC | 1.52e-06 | 5.40e-01 | 0.1426 |
834 | CASP1 | P12T-E | Human | Esophagus | ESCC | 3.67e-08 | 6.57e-02 | 0.1122 |
834 | CASP1 | P15T-E | Human | Esophagus | ESCC | 4.54e-05 | 1.89e-01 | 0.1149 |
834 | CASP1 | P16T-E | Human | Esophagus | ESCC | 1.49e-18 | 1.76e-01 | 0.1153 |
834 | CASP1 | P17T-E | Human | Esophagus | ESCC | 7.24e-09 | 4.19e-01 | 0.1278 |
834 | CASP1 | P20T-E | Human | Esophagus | ESCC | 1.20e-20 | 3.52e-01 | 0.1124 |
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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:00085445 | Breast | Precancer | epidermis development | 35/1080 | 324/18723 | 2.71e-04 | 3.96e-03 | 35 |
GO:00099136 | Breast | Precancer | epidermal cell differentiation | 23/1080 | 202/18723 | 1.43e-03 | 1.50e-02 | 23 |
GO:00302163 | Breast | Precancer | keratinocyte differentiation | 17/1080 | 139/18723 | 2.71e-03 | 2.39e-02 | 17 |
GO:000854412 | Breast | IDC | epidermis development | 41/1434 | 324/18723 | 1.03e-03 | 1.14e-02 | 41 |
GO:000991312 | Breast | IDC | epidermal cell differentiation | 28/1434 | 202/18723 | 1.62e-03 | 1.60e-02 | 28 |
GO:00302161 | Breast | IDC | keratinocyte differentiation | 21/1434 | 139/18723 | 2.06e-03 | 1.95e-02 | 21 |
GO:00435883 | Breast | IDC | skin development | 33/1434 | 263/18723 | 3.46e-03 | 2.87e-02 | 33 |
GO:004586227 | Esophagus | HGIN | positive regulation of proteolysis | 107/2587 | 372/18723 | 2.61e-14 | 4.60e-12 | 107 |
GO:001050616 | Esophagus | HGIN | regulation of autophagy | 84/2587 | 317/18723 | 1.39e-09 | 1.08e-07 | 84 |
GO:004328126 | Esophagus | HGIN | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 59/2587 | 209/18723 | 3.39e-08 | 1.97e-06 | 59 |
GO:200011626 | Esophagus | HGIN | regulation of cysteine-type endopeptidase activity | 63/2587 | 235/18723 | 9.71e-08 | 5.02e-06 | 63 |
GO:005254726 | Esophagus | HGIN | regulation of peptidase activity | 102/2587 | 461/18723 | 6.29e-07 | 2.72e-05 | 102 |
GO:001095225 | Esophagus | HGIN | positive regulation of peptidase activity | 53/2587 | 197/18723 | 8.70e-07 | 3.59e-05 | 53 |
GO:004312220 | Esophagus | HGIN | regulation of I-kappaB kinase/NF-kappaB signaling | 63/2587 | 249/18723 | 8.91e-07 | 3.61e-05 | 63 |
GO:005254826 | Esophagus | HGIN | regulation of endopeptidase activity | 96/2587 | 432/18723 | 1.09e-06 | 4.30e-05 | 96 |
GO:004328020 | Esophagus | HGIN | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 38/2587 | 129/18723 | 2.92e-06 | 1.01e-04 | 38 |
GO:000724918 | Esophagus | HGIN | I-kappaB kinase/NF-kappaB signaling | 67/2587 | 281/18723 | 3.84e-06 | 1.29e-04 | 67 |
GO:004312317 | Esophagus | HGIN | positive regulation of I-kappaB kinase/NF-kappaB signaling | 49/2587 | 186/18723 | 4.22e-06 | 1.40e-04 | 49 |
GO:200105620 | Esophagus | HGIN | positive regulation of cysteine-type endopeptidase activity | 41/2587 | 148/18723 | 6.65e-06 | 2.07e-04 | 41 |
GO:001095020 | Esophagus | HGIN | positive regulation of endopeptidase activity | 47/2587 | 179/18723 | 7.23e-06 | 2.20e-04 | 47 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05131211 | Esophagus | ESCC | Shigellosis | 176/4205 | 247/8465 | 2.27e-12 | 4.01e-11 | 2.05e-11 | 176 |
hsa05130211 | Esophagus | ESCC | Pathogenic Escherichia coli infection | 142/4205 | 197/8465 | 8.21e-11 | 1.06e-09 | 5.42e-10 | 142 |
hsa0516425 | Esophagus | ESCC | Influenza A | 122/4205 | 171/8465 | 5.01e-09 | 4.79e-08 | 2.45e-08 | 122 |
hsa0513526 | Esophagus | ESCC | Yersinia infection | 100/4205 | 137/8465 | 1.80e-08 | 1.59e-07 | 8.12e-08 | 100 |
hsa05171211 | Esophagus | ESCC | Coronavirus disease - COVID-19 | 156/4205 | 232/8465 | 3.18e-08 | 2.68e-07 | 1.37e-07 | 156 |
hsa05417211 | Esophagus | ESCC | Lipid and atherosclerosis | 143/4205 | 215/8465 | 3.30e-07 | 2.45e-06 | 1.26e-06 | 143 |
hsa046259 | Esophagus | ESCC | C-type lectin receptor signaling pathway | 73/4205 | 104/8465 | 1.57e-05 | 7.98e-05 | 4.09e-05 | 73 |
hsa0513428 | Esophagus | ESCC | Legionellosis | 42/4205 | 57/8465 | 1.83e-04 | 6.90e-04 | 3.53e-04 | 42 |
hsa0462122 | Esophagus | ESCC | NOD-like receptor signaling pathway | 116/4205 | 186/8465 | 2.90e-04 | 1.03e-03 | 5.30e-04 | 116 |
hsa046234 | Esophagus | ESCC | Cytosolic DNA-sensing pathway | 49/4205 | 75/8465 | 4.35e-03 | 1.12e-02 | 5.74e-03 | 49 |
hsa051339 | Esophagus | ESCC | Pertussis | 48/4205 | 76/8465 | 1.21e-02 | 2.77e-02 | 1.42e-02 | 48 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa05132310 | Esophagus | ESCC | Salmonella infection | 191/4205 | 249/8465 | 6.51e-19 | 5.45e-17 | 2.79e-17 | 191 |
hsa05131310 | Esophagus | ESCC | Shigellosis | 176/4205 | 247/8465 | 2.27e-12 | 4.01e-11 | 2.05e-11 | 176 |
hsa05130310 | Esophagus | ESCC | Pathogenic Escherichia coli infection | 142/4205 | 197/8465 | 8.21e-11 | 1.06e-09 | 5.42e-10 | 142 |
hsa0516435 | Esophagus | ESCC | Influenza A | 122/4205 | 171/8465 | 5.01e-09 | 4.79e-08 | 2.45e-08 | 122 |
hsa05135111 | Esophagus | ESCC | Yersinia infection | 100/4205 | 137/8465 | 1.80e-08 | 1.59e-07 | 8.12e-08 | 100 |
hsa05171310 | Esophagus | ESCC | Coronavirus disease - COVID-19 | 156/4205 | 232/8465 | 3.18e-08 | 2.68e-07 | 1.37e-07 | 156 |
hsa05417310 | Esophagus | ESCC | Lipid and atherosclerosis | 143/4205 | 215/8465 | 3.30e-07 | 2.45e-06 | 1.26e-06 | 143 |
hsa0462513 | Esophagus | ESCC | C-type lectin receptor signaling pathway | 73/4205 | 104/8465 | 1.57e-05 | 7.98e-05 | 4.09e-05 | 73 |
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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 |
CASP1 | SNV | Missense_Mutation | c.116N>G | p.Glu39Gly | p.E39G | P29466 | protein_coding | deleterious(0.02) | probably_damaging(0.987) | TCGA-A2-A04U-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
CASP1 | SNV | Missense_Mutation | c.1121N>T | p.Arg374Leu | p.R374L | P29466 | protein_coding | deleterious(0) | benign(0.057) | TCGA-A8-A083-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
CASP1 | SNV | Missense_Mutation | rs780735624 | c.985G>A | p.Ala329Thr | p.A329T | P29466 | protein_coding | deleterious(0.05) | possibly_damaging(0.69) | TCGA-LL-A7SZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
CASP1 | SNV | Missense_Mutation | novel | c.123N>T | p.Glu41Asp | p.E41D | P29466 | protein_coding | tolerated(0.07) | benign(0.074) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CASP1 | SNV | Missense_Mutation | c.889N>C | p.Asp297His | p.D297H | P29466 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
CASP1 | SNV | Missense_Mutation | rs199932541 | c.370N>T | p.Pro124Ser | p.P124S | P29466 | protein_coding | tolerated(0.56) | benign(0.005) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CASP1 | SNV | Missense_Mutation | rs202211771 | c.804G>T | p.Lys268Asn | p.K268N | P29466 | protein_coding | tolerated(0.15) | benign(0.024) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
CASP1 | SNV | Missense_Mutation | novel | c.1081G>T | p.Ala361Ser | p.A361S | P29466 | protein_coding | tolerated(0.79) | benign(0.215) | TCGA-AA-A00O-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CASP1 | deletion | Frame_Shift_Del | rs746543598 | c.614delN | p.Asn205IlefsTer7 | p.N205Ifs*7 | P29466 | protein_coding | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
CASP1 | deletion | Frame_Shift_Del | rs746543598 | c.614delN | p.Asn205IlefsTer7 | p.N205Ifs*7 | P29466 | protein_coding | TCGA-CK-6746-01 | 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 |
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | BERKELEYDIONE | BERKELEYDIONE | 17970594 | |
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | Belnacasan | BELNACASAN | ||
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | Ac-YVAD-cmk | |||
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | inhibitor | 178103081 | PRALNACASAN | |
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | inhibitor | 252166854 | ||
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | BERKELEYACETAL C | BERKELEYACETAL C | 17970594 | |
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | inhibitor | 178101984 | ||
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | VERMISTATIN | VERMISTATIN | 22295871 | |
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | PD-194035 | CHEMBL415893 | 10386941 | |
834 | CASP1 | DRUGGABLE GENOME, ENZYME, PROTEASE | inhibitor | CHEMBL2105721 | NIVOCASAN |
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