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Gene: C1S |
Gene summary for C1S |
Gene summary. |
Gene information | Species | Human | Gene symbol | C1S | Gene ID | 716 |
Gene name | complement C1s | |
Gene Alias | EDSPD2 | |
Cytomap | 12p13.31 | |
Gene Type | protein-coding | GO ID | GO:0002250 | UniProtAcc | F8WCZ6 |
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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 |
716 | C1S | AEH-subject2 | Human | Endometrium | AEH | 5.02e-23 | -5.13e-01 | -0.2525 |
716 | C1S | AEH-subject3 | Human | Endometrium | AEH | 8.63e-14 | -4.33e-01 | -0.2576 |
716 | C1S | AEH-subject4 | Human | Endometrium | AEH | 1.15e-09 | -4.17e-01 | -0.2657 |
716 | C1S | AEH-subject5 | Human | Endometrium | AEH | 1.38e-12 | -4.86e-01 | -0.2953 |
716 | C1S | EEC-subject1 | Human | Endometrium | EEC | 3.98e-09 | -4.13e-01 | -0.2682 |
716 | C1S | EEC-subject2 | Human | Endometrium | EEC | 1.12e-08 | -3.92e-01 | -0.2607 |
716 | C1S | EEC-subject3 | Human | Endometrium | EEC | 1.07e-15 | -4.68e-01 | -0.2525 |
716 | C1S | EEC-subject4 | Human | Endometrium | EEC | 1.01e-09 | -4.19e-01 | -0.2571 |
716 | C1S | EEC-subject5 | Human | Endometrium | EEC | 8.69e-18 | -5.14e-01 | -0.249 |
716 | C1S | GSM5276935 | Human | Endometrium | EEC | 1.38e-30 | -5.93e-01 | -0.123 |
716 | C1S | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 3.99e-22 | -4.87e-01 | -0.1869 |
716 | C1S | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 5.34e-27 | -5.19e-01 | -0.1875 |
716 | C1S | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 4.32e-22 | -4.66e-01 | -0.1883 |
716 | C1S | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 7.67e-31 | -5.76e-01 | -0.1934 |
716 | C1S | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.04e-32 | -5.57e-01 | -0.1917 |
716 | C1S | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 7.60e-36 | -5.59e-01 | -0.1916 |
716 | C1S | GSM6177623_NYU_UCEC3_Vis | Human | Endometrium | EEC | 2.34e-03 | -1.71e-01 | -0.1269 |
716 | C1S | LZE8T | Human | Esophagus | ESCC | 1.22e-07 | 1.14e+00 | 0.067 |
716 | C1S | LZE20T | Human | Esophagus | ESCC | 1.31e-02 | -2.37e-01 | 0.0662 |
716 | C1S | LZE24T | Human | Esophagus | ESCC | 1.50e-04 | -3.02e-01 | 0.0596 |
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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:00090609 | Cervix | CC | aerobic respiration | 60/2311 | 189/18723 | 1.59e-12 | 6.36e-10 | 60 |
GO:00453339 | Cervix | CC | cellular respiration | 66/2311 | 230/18723 | 2.07e-11 | 5.39e-09 | 66 |
GO:00060919 | Cervix | CC | generation of precursor metabolites and energy | 105/2311 | 490/18723 | 7.40e-09 | 6.61e-07 | 105 |
GO:00159809 | Cervix | CC | energy derivation by oxidation of organic compounds | 74/2311 | 318/18723 | 3.83e-08 | 2.53e-06 | 74 |
GO:00516567 | Cervix | CC | establishment of organelle localization | 76/2311 | 390/18723 | 3.17e-05 | 5.21e-04 | 76 |
GO:00161977 | Cervix | CC | endosomal transport | 48/2311 | 230/18723 | 1.65e-04 | 1.97e-03 | 48 |
GO:00307057 | Cervix | CC | cytoskeleton-dependent intracellular transport | 40/2311 | 195/18723 | 7.92e-04 | 6.99e-03 | 40 |
GO:00160506 | Cervix | CC | vesicle organization | 54/2311 | 300/18723 | 2.71e-03 | 1.85e-02 | 54 |
GO:00080886 | Cervix | CC | axo-dendritic transport | 17/2311 | 75/18723 | 8.87e-03 | 4.53e-02 | 17 |
GO:00182054 | Cervix | CC | peptidyl-lysine modification | 62/2311 | 376/18723 | 1.04e-02 | 4.97e-02 | 62 |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0009060 | Colorectum | AD | aerobic respiration | 108/3918 | 189/18723 | 9.14e-28 | 1.43e-24 | 108 |
GO:0045333 | Colorectum | AD | cellular respiration | 119/3918 | 230/18723 | 3.21e-25 | 4.02e-22 | 119 |
GO:0015980 | Colorectum | AD | energy derivation by oxidation of organic compounds | 143/3918 | 318/18723 | 2.78e-22 | 2.49e-19 | 143 |
GO:0016197 | Colorectum | AD | endosomal transport | 90/3918 | 230/18723 | 1.88e-10 | 1.73e-08 | 90 |
GO:0051656 | Colorectum | AD | establishment of organelle localization | 131/3918 | 390/18723 | 3.00e-09 | 2.06e-07 | 131 |
GO:0016050 | Colorectum | AD | vesicle organization | 101/3918 | 300/18723 | 1.65e-07 | 7.17e-06 | 101 |
GO:0051650 | Colorectum | AD | establishment of vesicle localization | 57/3918 | 161/18723 | 1.47e-05 | 3.15e-04 | 57 |
GO:0051648 | Colorectum | AD | vesicle localization | 59/3918 | 177/18723 | 7.83e-05 | 1.25e-03 | 59 |
GO:0030705 | Colorectum | AD | cytoskeleton-dependent intracellular transport | 60/3918 | 195/18723 | 7.56e-04 | 7.59e-03 | 60 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0517126 | Endometrium | AEH | Coronavirus disease - COVID-19 | 99/1197 | 232/8465 | 5.19e-27 | 3.37e-25 | 2.47e-25 | 99 |
hsa05171112 | Endometrium | AEH | Coronavirus disease - COVID-19 | 99/1197 | 232/8465 | 5.19e-27 | 3.37e-25 | 2.47e-25 | 99 |
hsa0517127 | Endometrium | EEC | Coronavirus disease - COVID-19 | 99/1237 | 232/8465 | 7.43e-26 | 4.89e-24 | 3.65e-24 | 99 |
hsa0517136 | Endometrium | EEC | Coronavirus disease - COVID-19 | 99/1237 | 232/8465 | 7.43e-26 | 4.89e-24 | 3.65e-24 | 99 |
hsa05171211 | Esophagus | ESCC | Coronavirus disease - COVID-19 | 156/4205 | 232/8465 | 3.18e-08 | 2.68e-07 | 1.37e-07 | 156 |
hsa051339 | Esophagus | ESCC | Pertussis | 48/4205 | 76/8465 | 1.21e-02 | 2.77e-02 | 1.42e-02 | 48 |
hsa05171310 | Esophagus | ESCC | Coronavirus disease - COVID-19 | 156/4205 | 232/8465 | 3.18e-08 | 2.68e-07 | 1.37e-07 | 156 |
hsa0513314 | Esophagus | ESCC | Pertussis | 48/4205 | 76/8465 | 1.21e-02 | 2.77e-02 | 1.42e-02 | 48 |
hsa0517114 | Liver | NAFLD | Coronavirus disease - COVID-19 | 111/1043 | 232/8465 | 1.01e-41 | 3.32e-39 | 2.67e-39 | 111 |
hsa04610 | Liver | NAFLD | Complement and coagulation cascades | 35/1043 | 86/8465 | 2.48e-11 | 2.04e-09 | 1.64e-09 | 35 |
hsa0517115 | Liver | NAFLD | Coronavirus disease - COVID-19 | 111/1043 | 232/8465 | 1.01e-41 | 3.32e-39 | 2.67e-39 | 111 |
hsa046101 | Liver | NAFLD | Complement and coagulation cascades | 35/1043 | 86/8465 | 2.48e-11 | 2.04e-09 | 1.64e-09 | 35 |
hsa046102 | Liver | Cirrhotic | Complement and coagulation cascades | 48/2530 | 86/8465 | 4.41e-07 | 5.44e-06 | 3.35e-06 | 48 |
hsa046103 | Liver | Cirrhotic | Complement and coagulation cascades | 48/2530 | 86/8465 | 4.41e-07 | 5.44e-06 | 3.35e-06 | 48 |
hsa0517142 | Liver | HCC | Coronavirus disease - COVID-19 | 167/4020 | 232/8465 | 1.50e-14 | 4.19e-13 | 2.33e-13 | 167 |
hsa046104 | Liver | HCC | Complement and coagulation cascades | 57/4020 | 86/8465 | 3.19e-04 | 1.45e-03 | 8.04e-04 | 57 |
hsa051332 | Liver | HCC | Pertussis | 48/4020 | 76/8465 | 4.17e-03 | 1.27e-02 | 7.06e-03 | 48 |
hsa0517152 | Liver | HCC | Coronavirus disease - COVID-19 | 167/4020 | 232/8465 | 1.50e-14 | 4.19e-13 | 2.33e-13 | 167 |
hsa046105 | Liver | HCC | Complement and coagulation cascades | 57/4020 | 86/8465 | 3.19e-04 | 1.45e-03 | 8.04e-04 | 57 |
hsa051333 | Liver | HCC | Pertussis | 48/4020 | 76/8465 | 4.17e-03 | 1.27e-02 | 7.06e-03 | 48 |
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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 |
C1S | SNV | Missense_Mutation | c.1459N>A | p.Val487Ile | p.V487I | P09871 | protein_coding | tolerated(0.69) | benign(0.062) | TCGA-CD-A4MG-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
C1S | SNV | Missense_Mutation | rs373197181 | c.1741C>T | p.Arg581Cys | p.R581C | P09871 | protein_coding | tolerated(0.18) | possibly_damaging(0.571) | TCGA-CG-5720-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
C1S | SNV | Missense_Mutation | c.1990C>G | p.Leu664Val | p.L664V | P09871 | protein_coding | tolerated(1) | benign(0.003) | TCGA-D7-6528-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
C1S | SNV | Missense_Mutation | rs147341600 | c.656N>A | p.Arg219Gln | p.R219Q | P09871 | protein_coding | tolerated(0.9) | benign(0.01) | TCGA-FP-A8CX-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
C1S | SNV | Missense_Mutation | rs782412161 | c.1633N>A | p.Val545Ile | p.V545I | P09871 | protein_coding | tolerated(0.38) | benign(0.015) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | |
C1S | SNV | Missense_Mutation | novel | c.1613C>G | p.Pro538Arg | p.P538R | P09871 | protein_coding | deleterious(0.02) | possibly_damaging(0.618) | TCGA-VQ-A91S-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | fluorouracil | CR |
C1S | deletion | Frame_Shift_Del | rs781818365 | c.842delA | p.Lys281ArgfsTer39 | p.K281Rfs*39 | P09871 | protein_coding | TCGA-BR-8078-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
C1S | deletion | Frame_Shift_Del | rs781818365 | c.836delN | p.Lys281ArgfsTer39 | p.K281Rfs*39 | P09871 | protein_coding | TCGA-HU-A4H3-01 | Stomach | stomach adenocarcinoma | Female | <65 | III/IV | Chemotherapy | ts-1 | PD | ||
C1S | insertion | Nonsense_Mutation | novel | c.1348_1349insAACCACTCACATAATGTTA | p.Pro450GlnfsTer5 | p.P450Qfs*5 | P09871 | protein_coding | TCGA-FY-A4B0-01 | Thyroid | thyroid carcinoma | Male | >=65 | I/II | Hormone Therapy | synthroid | 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 |
716 | C1S | ENZYME, PROTEASE, DRUGGABLE GENOME | TNT009 | |||
716 | C1S | ENZYME, PROTEASE, DRUGGABLE GENOME | inhibitor | 252166820 | ||
716 | C1S | ENZYME, PROTEASE, DRUGGABLE GENOME | Cinryze | CINRYZE | ||
716 | C1S | ENZYME, PROTEASE, DRUGGABLE GENOME | TS01 | |||
716 | C1S | ENZYME, PROTEASE, DRUGGABLE GENOME | ANX005 | |||
716 | C1S | ENZYME, PROTEASE, DRUGGABLE GENOME | antibody | 354702279 | SUTIMLIMAB | |
716 | C1S | ENZYME, PROTEASE, DRUGGABLE GENOME | SHP616 | |||
716 | C1S | ENZYME, PROTEASE, DRUGGABLE GENOME | MBL | 10878362 | ||
716 | C1S | ENZYME, PROTEASE, DRUGGABLE GENOME | ANTITHROMBIN |
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