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Gene: TMEM123 |
Gene summary for TMEM123 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | TMEM123 | Gene ID | 114908 |
| Gene name | transmembrane protein 123 | |
| Gene Alias | KCT3 | |
| Cytomap | 11q22.2 | |
| Gene Type | protein-coding | GO ID | GO:0008150 | UniProtAcc | Q8N131 |
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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 |
| 114908 | TMEM123 | GSM5276935 | Human | Endometrium | EEC | 2.79e-08 | 3.86e-01 | -0.123 |
| 114908 | TMEM123 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 8.17e-29 | 1.25e-01 | -0.1869 |
| 114908 | TMEM123 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 1.53e-27 | 7.14e-02 | -0.1875 |
| 114908 | TMEM123 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 1.93e-28 | 8.83e-02 | -0.1883 |
| 114908 | TMEM123 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 7.64e-17 | 3.17e-02 | -0.1934 |
| 114908 | TMEM123 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 3.99e-31 | -1.82e-01 | -0.1917 |
| 114908 | TMEM123 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 1.66e-30 | -1.48e-01 | -0.1916 |
| 114908 | TMEM123 | GSM6177623_NYU_UCEC3_Vis | Human | Endometrium | EEC | 1.52e-02 | 1.02e-01 | -0.1269 |
| 114908 | TMEM123 | LZE4T | Human | Esophagus | ESCC | 3.81e-04 | 3.71e-01 | 0.0811 |
| 114908 | TMEM123 | LZE7T | Human | Esophagus | ESCC | 1.09e-04 | 5.73e-02 | 0.0667 |
| 114908 | TMEM123 | LZE8T | Human | Esophagus | ESCC | 1.03e-04 | 4.21e-02 | 0.067 |
| 114908 | TMEM123 | LZE20T | Human | Esophagus | ESCC | 1.78e-02 | 3.93e-01 | 0.0662 |
| 114908 | TMEM123 | LZE22T | Human | Esophagus | ESCC | 4.37e-12 | 1.75e+00 | 0.068 |
| 114908 | TMEM123 | LZE24T | Human | Esophagus | ESCC | 1.55e-15 | 9.11e-01 | 0.0596 |
| 114908 | TMEM123 | P2T-E | Human | Esophagus | ESCC | 5.04e-31 | 7.30e-01 | 0.1177 |
| 114908 | TMEM123 | P4T-E | Human | Esophagus | ESCC | 3.83e-57 | 2.06e+00 | 0.1323 |
| 114908 | TMEM123 | P5T-E | Human | Esophagus | ESCC | 1.23e-42 | 1.20e+00 | 0.1327 |
| 114908 | TMEM123 | P8T-E | Human | Esophagus | ESCC | 1.07e-76 | 2.30e+00 | 0.0889 |
| 114908 | TMEM123 | P9T-E | Human | Esophagus | ESCC | 1.38e-10 | 5.61e-01 | 0.1131 |
| 114908 | TMEM123 | P10T-E | Human | Esophagus | ESCC | 4.78e-37 | 8.07e-01 | 0.116 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0070265 | Breast | Precancer | necrotic cell death | 11/1080 | 62/18723 | 7.54e-04 | 9.01e-03 | 11 |
| GO:00325358 | Breast | IDC | regulation of cellular component size | 45/1434 | 383/18723 | 2.72e-03 | 2.41e-02 | 45 |
| GO:00702651 | Breast | IDC | necrotic cell death | 11/1434 | 62/18723 | 6.92e-03 | 4.79e-02 | 11 |
| GO:003253514 | Breast | DCIS | regulation of cellular component size | 44/1390 | 383/18723 | 2.58e-03 | 2.30e-02 | 44 |
| GO:00702652 | Breast | DCIS | necrotic cell death | 11/1390 | 62/18723 | 5.50e-03 | 4.01e-02 | 11 |
| GO:003253510 | Endometrium | AEH | regulation of cellular component size | 78/2100 | 383/18723 | 1.10e-07 | 5.29e-06 | 78 |
| GO:00083616 | Endometrium | AEH | regulation of cell size | 38/2100 | 181/18723 | 9.69e-05 | 1.40e-03 | 38 |
| GO:003253516 | Endometrium | EEC | regulation of cellular component size | 79/2168 | 383/18723 | 1.98e-07 | 8.93e-06 | 79 |
| GO:000836111 | Endometrium | EEC | regulation of cell size | 39/2168 | 181/18723 | 8.72e-05 | 1.24e-03 | 39 |
| GO:003253520 | Esophagus | ESCC | regulation of cellular component size | 227/8552 | 383/18723 | 4.77e-08 | 8.60e-07 | 227 |
| GO:00083619 | Esophagus | ESCC | regulation of cell size | 107/8552 | 181/18723 | 1.81e-04 | 1.16e-03 | 107 |
| GO:00702654 | Esophagus | ESCC | necrotic cell death | 39/8552 | 62/18723 | 4.68e-03 | 1.82e-02 | 39 |
| GO:00325356 | Liver | NAFLD | regulation of cellular component size | 55/1882 | 383/18723 | 4.31e-03 | 3.55e-02 | 55 |
| GO:003253512 | Liver | Cirrhotic | regulation of cellular component size | 135/4634 | 383/18723 | 2.32e-06 | 4.26e-05 | 135 |
| GO:003253522 | Liver | HCC | regulation of cellular component size | 217/7958 | 383/18723 | 1.28e-08 | 3.14e-07 | 217 |
| GO:00083614 | Liver | HCC | regulation of cell size | 95/7958 | 181/18723 | 4.15e-03 | 1.81e-02 | 95 |
| GO:003253519 | Oral cavity | OSCC | regulation of cellular component size | 201/7305 | 383/18723 | 4.80e-08 | 8.88e-07 | 201 |
| GO:00083618 | Oral cavity | OSCC | regulation of cell size | 92/7305 | 181/18723 | 7.86e-04 | 4.26e-03 | 92 |
| GO:00702653 | Oral cavity | OSCC | necrotic cell death | 34/7305 | 62/18723 | 8.23e-03 | 3.00e-02 | 34 |
| GO:0032535110 | Oral cavity | LP | regulation of cellular component size | 128/4623 | 383/18723 | 6.56e-05 | 8.80e-04 | 128 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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. |
| Page: 1 |
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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 |
| TMEM123 | insertion | Frame_Shift_Ins | novel | c.230_231insCGATACCGAA | p.Ala78AspfsTer9 | p.A78Dfs*9 | Q8N131 | protein_coding | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD | ||
| TMEM123 | SNV | Missense_Mutation | c.497N>A | p.Thr166Asn | p.T166N | Q8N131 | protein_coding | deleterious(0.04) | probably_damaging(0.952) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| TMEM123 | SNV | Missense_Mutation | novel | c.403N>A | p.Val135Ile | p.V135I | Q8N131 | protein_coding | deleterious(0.05) | benign(0.003) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| TMEM123 | SNV | Missense_Mutation | novel | c.604N>T | p.Asp202Tyr | p.D202Y | Q8N131 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
| TMEM123 | SNV | Missense_Mutation | novel | c.254C>T | p.Thr85Met | p.T85M | Q8N131 | protein_coding | deleterious(0) | probably_damaging(0.954) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
| TMEM123 | SNV | Missense_Mutation | novel | c.617C>T | p.Ala206Val | p.A206V | Q8N131 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| TMEM123 | SNV | Missense_Mutation | novel | c.521N>C | p.Val174Ala | p.V174A | Q8N131 | protein_coding | tolerated(0.09) | benign(0.403) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| TMEM123 | SNV | Missense_Mutation | novel | c.547N>A | p.Leu183Ile | p.L183I | Q8N131 | protein_coding | deleterious(0.01) | probably_damaging(0.964) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| TMEM123 | SNV | Missense_Mutation | novel | c.117G>T | p.Glu39Asp | p.E39D | Q8N131 | protein_coding | tolerated(0.6) | benign(0.042) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| TMEM123 | insertion | In_Frame_Ins | novel | c.230_231insACCGAA | p.Val77_Ala78insProAsn | p.V77_A78insPN | Q8N131 | protein_coding | TCGA-A5-A0R9-01 | Endometrium | uterine corpus endometrioid carcinoma | 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 |
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