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Gene: MB21D1 |
Gene summary for MB21D1 |
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Gene information | Species | Human | Gene symbol | MB21D1 | Gene ID | 115004 |
Gene name | cyclic GMP-AMP synthase | |
Gene Alias | C6orf150 | |
Cytomap | 6q13 | |
Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | Q8N884 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
115004 | MB21D1 | P89T-E | Human | Esophagus | ESCC | 1.10e-12 | 8.85e-01 | 0.1752 |
115004 | MB21D1 | P91T-E | Human | Esophagus | ESCC | 1.12e-14 | 1.60e+00 | 0.1828 |
115004 | MB21D1 | P107T-E | Human | Esophagus | ESCC | 3.28e-37 | 9.22e-01 | 0.171 |
115004 | MB21D1 | P127T-E | Human | Esophagus | ESCC | 3.31e-02 | -3.91e-02 | 0.0826 |
115004 | MB21D1 | P128T-E | Human | Esophagus | ESCC | 7.00e-31 | 1.25e+00 | 0.1241 |
115004 | MB21D1 | P130T-E | Human | Esophagus | ESCC | 9.97e-21 | 3.91e-01 | 0.1676 |
115004 | MB21D1 | C04 | Human | Oral cavity | OSCC | 8.35e-16 | 5.29e-01 | 0.2633 |
115004 | MB21D1 | C21 | Human | Oral cavity | OSCC | 7.89e-38 | 8.85e-01 | 0.2678 |
115004 | MB21D1 | C30 | Human | Oral cavity | OSCC | 5.73e-17 | 5.72e-01 | 0.3055 |
115004 | MB21D1 | C43 | Human | Oral cavity | OSCC | 5.06e-19 | 4.18e-01 | 0.1704 |
115004 | MB21D1 | C46 | Human | Oral cavity | OSCC | 1.03e-25 | 6.19e-01 | 0.1673 |
115004 | MB21D1 | C51 | Human | Oral cavity | OSCC | 1.81e-04 | 2.93e-01 | 0.2674 |
115004 | MB21D1 | C57 | Human | Oral cavity | OSCC | 1.60e-13 | 4.57e-01 | 0.1679 |
115004 | MB21D1 | C06 | Human | Oral cavity | OSCC | 1.00e-11 | 8.85e-01 | 0.2699 |
115004 | MB21D1 | C86 | Human | Oral cavity | OSCC | 3.00e-02 | 4.73e-01 | 0.161 |
115004 | MB21D1 | LN22 | Human | Oral cavity | OSCC | 1.25e-05 | 6.88e-01 | 0.1733 |
115004 | MB21D1 | LN46 | Human | Oral cavity | OSCC | 9.52e-18 | 6.45e-01 | 0.1666 |
115004 | MB21D1 | SYSMH2 | Human | Oral cavity | OSCC | 5.46e-18 | 6.16e-01 | 0.2326 |
115004 | MB21D1 | SYSMH3 | Human | Oral cavity | OSCC | 2.40e-22 | 5.83e-01 | 0.2442 |
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∗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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0517120 | Cervix | CC | Coronavirus disease - COVID-19 | 111/1267 | 232/8465 | 1.82e-33 | 5.90e-31 | 3.49e-31 | 111 |
hsa0516318 | Cervix | CC | Human cytomegalovirus infection | 65/1267 | 225/8465 | 4.59e-08 | 6.47e-07 | 3.83e-07 | 65 |
hsa0513120 | Cervix | CC | Shigellosis | 69/1267 | 247/8465 | 7.64e-08 | 1.03e-06 | 6.10e-07 | 69 |
hsa0517016 | Cervix | CC | Human immunodeficiency virus 1 infection | 55/1267 | 212/8465 | 1.80e-05 | 1.42e-04 | 8.40e-05 | 55 |
hsa05171110 | Cervix | CC | Coronavirus disease - COVID-19 | 111/1267 | 232/8465 | 1.82e-33 | 5.90e-31 | 3.49e-31 | 111 |
hsa0516319 | Cervix | CC | Human cytomegalovirus infection | 65/1267 | 225/8465 | 4.59e-08 | 6.47e-07 | 3.83e-07 | 65 |
hsa05131110 | Cervix | CC | Shigellosis | 69/1267 | 247/8465 | 7.64e-08 | 1.03e-06 | 6.10e-07 | 69 |
hsa0517017 | Cervix | CC | Human immunodeficiency virus 1 infection | 55/1267 | 212/8465 | 1.80e-05 | 1.42e-04 | 8.40e-05 | 55 |
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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 |
MB21D1 | SNV | Missense_Mutation | c.1299C>G | p.Phe433Leu | p.F433L | Q8N884 | protein_coding | deleterious(0) | possibly_damaging(0.784) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MB21D1 | SNV | Missense_Mutation | rs531954415 | c.1127G>A | p.Arg376Gln | p.R376Q | Q8N884 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MB21D1 | SNV | Missense_Mutation | c.1340C>T | p.Thr447Ile | p.T447I | Q8N884 | protein_coding | tolerated(0.07) | benign(0.146) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | |
MB21D1 | SNV | Missense_Mutation | c.604N>A | p.Ala202Thr | p.A202T | Q8N884 | protein_coding | tolerated(0.1) | benign(0.014) | TCGA-AA-3496-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MB21D1 | SNV | Missense_Mutation | c.1206N>T | p.Glu402Asp | p.E402D | Q8N884 | protein_coding | tolerated(0.12) | benign(0.038) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MB21D1 | SNV | Missense_Mutation | rs531954415 | c.1127N>A | p.Arg376Gln | p.R376Q | Q8N884 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MB21D1 | SNV | Missense_Mutation | c.701N>C | p.Val234Ala | p.V234A | Q8N884 | protein_coding | tolerated(0.1) | possibly_damaging(0.574) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
MB21D1 | SNV | Missense_Mutation | c.236N>T | p.Ala79Val | p.A79V | Q8N884 | protein_coding | tolerated(0.07) | benign(0.037) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
MB21D1 | SNV | Missense_Mutation | rs190867294 | c.1016N>A | p.Arg339His | p.R339H | Q8N884 | protein_coding | deleterious(0.01) | benign(0.229) | TCGA-F4-6704-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
MB21D1 | SNV | Missense_Mutation | rs373045600 | c.433N>A | p.Gly145Ser | p.G145S | Q8N884 | protein_coding | tolerated(0.27) | benign(0.03) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <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 |
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