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Gene: CD248 |
Gene summary for CD248 |
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Gene information | Species | Human | Gene symbol | CD248 | Gene ID | 57124 |
Gene name | CD248 molecule | |
Gene Alias | CD164L1 | |
Cytomap | 11q13.2 | |
Gene Type | protein-coding | GO ID | GO:0002376 | UniProtAcc | Q9HCU0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57124 | CD248 | P2T-E | Human | Esophagus | ESCC | 1.60e-07 | 1.92e-01 | 0.1177 |
57124 | CD248 | P4T-E | Human | Esophagus | ESCC | 4.38e-06 | 6.10e-01 | 0.1323 |
57124 | CD248 | P5T-E | Human | Esophagus | ESCC | 2.65e-02 | 2.17e-01 | 0.1327 |
57124 | CD248 | P9T-E | Human | Esophagus | ESCC | 4.16e-03 | 3.38e-01 | 0.1131 |
57124 | CD248 | P10T-E | Human | Esophagus | ESCC | 3.50e-02 | 1.08e-01 | 0.116 |
57124 | CD248 | P16T-E | Human | Esophagus | ESCC | 4.17e-05 | 8.64e-02 | 0.1153 |
57124 | CD248 | P24T-E | Human | Esophagus | ESCC | 8.84e-05 | 3.32e-01 | 0.1287 |
57124 | CD248 | P42T-E | Human | Esophagus | ESCC | 1.11e-03 | 6.20e-01 | 0.1175 |
57124 | CD248 | P44T-E | Human | Esophagus | ESCC | 1.00e-06 | 5.52e-01 | 0.1096 |
57124 | CD248 | P74T-E | Human | Esophagus | ESCC | 3.11e-02 | 1.31e-01 | 0.1479 |
57124 | CD248 | P79T-E | Human | Esophagus | ESCC | 4.34e-08 | 9.93e-02 | 0.1154 |
57124 | CD248 | P130T-E | Human | Esophagus | ESCC | 2.28e-16 | 3.97e-01 | 0.1676 |
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Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![]() | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias | ||
LGIN: Low-grade intraepithelial neoplasias |
∗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 |
GO:19040197 | Esophagus | ESCC | epithelial cell apoptotic process | 68/8552 | 121/18723 | 1.27e-02 | 4.21e-02 | 68 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
CD248 | SNV | Missense_Mutation | rs202170042 | c.1433N>A | p.Arg478His | p.R478H | Q9HCU0 | protein_coding | deleterious_low_confidence(0.01) | benign(0.145) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
CD248 | SNV | Missense_Mutation | rs140856103 | c.1609N>T | p.Arg537Trp | p.R537W | Q9HCU0 | protein_coding | deleterious(0.01) | benign(0.109) | TCGA-A6-6654-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | oxaliplatin | SD |
CD248 | SNV | Missense_Mutation | rs539641105 | c.1367N>T | p.Thr456Met | p.T456M | Q9HCU0 | protein_coding | tolerated_low_confidence(0.1) | probably_damaging(0.919) | TCGA-A6-A565-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unspecific | 5FU | PD |
CD248 | SNV | Missense_Mutation | c.1709C>A | p.Pro570Gln | p.P570Q | Q9HCU0 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-AA-3697-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
CD248 | SNV | Missense_Mutation | novel | c.2179N>T | p.Arg727Cys | p.R727C | Q9HCU0 | protein_coding | deleterious(0) | possibly_damaging(0.451) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CD248 | SNV | Missense_Mutation | c.1278N>T | p.Glu426Asp | p.E426D | Q9HCU0 | protein_coding | tolerated(0.58) | benign(0) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
CD248 | SNV | Missense_Mutation | novel | c.1256A>C | p.Glu419Ala | p.E419A | Q9HCU0 | protein_coding | tolerated(0.14) | benign(0.014) | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CD248 | SNV | Missense_Mutation | rs773387758 | c.2026C>T | p.Leu676Phe | p.L676F | Q9HCU0 | protein_coding | tolerated(0.06) | benign(0.089) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CD248 | SNV | Missense_Mutation | rs373617917 | c.2032N>A | p.Glu678Lys | p.E678K | Q9HCU0 | protein_coding | tolerated(0.12) | benign(0) | TCGA-CM-4743-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | capecitabine | SD |
CD248 | SNV | Missense_Mutation | c.392G>A | p.Cys131Tyr | p.C131Y | Q9HCU0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
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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 |
57124 | CD248 | DRUGGABLE GENOME, EXTERNAL SIDE OF PLASMA MEMBRANE | OntecizumabAmatuximab | |||
57124 | CD248 | DRUGGABLE GENOME, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | CHEMBL2109397 | ONTUXIZUMAB | |
57124 | CD248 | DRUGGABLE GENOME, EXTERNAL SIDE OF PLASMA MEMBRANE | MORAB-004 | ONTUXIZUMAB | ||
57124 | CD248 | DRUGGABLE GENOME, EXTERNAL SIDE OF PLASMA MEMBRANE | Ontuxizumab | ONTUXIZUMAB | ||
57124 | CD248 | DRUGGABLE GENOME, EXTERNAL SIDE OF PLASMA MEMBRANE | MORAb-004 | ONTUXIZUMAB |
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