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Gene: TMEM230 |
Gene summary for TMEM230 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | TMEM230 | Gene ID | 29058 |
| Gene name | transmembrane protein 230 | |
| Gene Alias | C20orf30 | |
| Cytomap | 20p13-p12.3 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q96A57 |
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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 |
| 29058 | TMEM230 | P49T-E | Human | Esophagus | ESCC | 2.19e-13 | 1.99e+00 | 0.1768 |
| 29058 | TMEM230 | P52T-E | Human | Esophagus | ESCC | 1.87e-37 | 1.33e+00 | 0.1555 |
| 29058 | TMEM230 | P54T-E | Human | Esophagus | ESCC | 2.82e-25 | 8.78e-01 | 0.0975 |
| 29058 | TMEM230 | P56T-E | Human | Esophagus | ESCC | 1.27e-13 | 2.82e+00 | 0.1613 |
| 29058 | TMEM230 | P57T-E | Human | Esophagus | ESCC | 5.35e-40 | 1.10e+00 | 0.0926 |
| 29058 | TMEM230 | P61T-E | Human | Esophagus | ESCC | 5.20e-18 | 8.92e-01 | 0.099 |
| 29058 | TMEM230 | P62T-E | Human | Esophagus | ESCC | 1.22e-64 | 1.41e+00 | 0.1302 |
| 29058 | TMEM230 | P65T-E | Human | Esophagus | ESCC | 1.77e-52 | 1.48e+00 | 0.0978 |
| 29058 | TMEM230 | P74T-E | Human | Esophagus | ESCC | 2.51e-49 | 1.66e+00 | 0.1479 |
| 29058 | TMEM230 | P75T-E | Human | Esophagus | ESCC | 6.62e-81 | 1.88e+00 | 0.1125 |
| 29058 | TMEM230 | P76T-E | Human | Esophagus | ESCC | 6.50e-83 | 1.79e+00 | 0.1207 |
| 29058 | TMEM230 | P79T-E | Human | Esophagus | ESCC | 9.96e-90 | 2.14e+00 | 0.1154 |
| 29058 | TMEM230 | P80T-E | Human | Esophagus | ESCC | 3.69e-43 | 1.66e+00 | 0.155 |
| 29058 | TMEM230 | P82T-E | Human | Esophagus | ESCC | 3.21e-27 | 2.12e+00 | 0.1072 |
| 29058 | TMEM230 | P83T-E | Human | Esophagus | ESCC | 6.06e-73 | 3.05e+00 | 0.1738 |
| 29058 | TMEM230 | P84T-E | Human | Esophagus | ESCC | 1.09e-05 | 7.17e-01 | 0.0933 |
| 29058 | TMEM230 | P89T-E | Human | Esophagus | ESCC | 2.61e-22 | 2.29e+00 | 0.1752 |
| 29058 | TMEM230 | P91T-E | Human | Esophagus | ESCC | 5.06e-20 | 2.29e+00 | 0.1828 |
| 29058 | TMEM230 | P107T-E | Human | Esophagus | ESCC | 1.47e-63 | 1.85e+00 | 0.171 |
| 29058 | TMEM230 | P126T-E | Human | Esophagus | ESCC | 2.07e-06 | 1.16e+00 | 0.1125 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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:00516568 | Endometrium | AEH | establishment of organelle localization | 77/2100 | 390/18723 | 4.89e-07 | 1.94e-05 | 77 |
| GO:00516507 | Endometrium | AEH | establishment of vesicle localization | 32/2100 | 161/18723 | 8.99e-04 | 8.24e-03 | 32 |
| GO:00516487 | Endometrium | AEH | vesicle localization | 32/2100 | 177/18723 | 4.33e-03 | 2.86e-02 | 32 |
| GO:00484891 | Endometrium | AEH | synaptic vesicle transport | 11/2100 | 42/18723 | 5.45e-03 | 3.37e-02 | 11 |
| GO:005165613 | Endometrium | EEC | establishment of organelle localization | 75/2168 | 390/18723 | 6.23e-06 | 1.49e-04 | 75 |
| GO:005165013 | Endometrium | EEC | establishment of vesicle localization | 31/2168 | 161/18723 | 2.99e-03 | 2.10e-02 | 31 |
| GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
| GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
| GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
| GO:00484892 | Esophagus | ESCC | synaptic vesicle transport | 28/8552 | 42/18723 | 4.90e-03 | 1.89e-02 | 28 |
| GO:005165611 | Liver | Cirrhotic | establishment of organelle localization | 128/4634 | 390/18723 | 1.78e-04 | 1.67e-03 | 128 |
| GO:005165011 | Liver | Cirrhotic | establishment of vesicle localization | 58/4634 | 161/18723 | 8.98e-04 | 6.44e-03 | 58 |
| GO:005164811 | Liver | Cirrhotic | vesicle localization | 62/4634 | 177/18723 | 1.37e-03 | 9.18e-03 | 62 |
| GO:005165621 | Liver | HCC | establishment of organelle localization | 226/7958 | 390/18723 | 4.15e-10 | 1.34e-08 | 226 |
| GO:005165021 | Liver | HCC | establishment of vesicle localization | 103/7958 | 161/18723 | 2.94e-08 | 6.69e-07 | 103 |
| GO:005164821 | Liver | HCC | vesicle localization | 107/7958 | 177/18723 | 1.05e-06 | 1.57e-05 | 107 |
| GO:0048489 | Liver | HCC | synaptic vesicle transport | 27/7958 | 42/18723 | 3.60e-03 | 1.60e-02 | 27 |
| GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
| GO:00516509 | Oral cavity | OSCC | establishment of vesicle localization | 101/7305 | 161/18723 | 8.79e-10 | 2.17e-08 | 101 |
| GO:00516489 | Oral cavity | OSCC | vesicle localization | 105/7305 | 177/18723 | 3.30e-08 | 6.30e-07 | 105 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| Page: 1 |
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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 |
| TMEM230 | SNV | Missense_Mutation | rs779508042 | c.197N>T | p.Pro66Leu | p.P66L | Q96A57 | protein_coding | tolerated(0.06) | benign(0.086) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| TMEM230 | SNV | Missense_Mutation | novel | c.418G>A | p.Asp140Asn | p.D140N | Q96A57 | protein_coding | tolerated(0.11) | benign(0.038) | TCGA-VS-A959-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
| TMEM230 | SNV | Missense_Mutation | rs145815993 | c.184N>T | p.Arg62Cys | p.R62C | Q96A57 | protein_coding | deleterious(0) | benign(0) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| TMEM230 | SNV | Missense_Mutation | novel | c.245N>G | p.Tyr82Cys | p.Y82C | Q96A57 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| TMEM230 | SNV | Missense_Mutation | c.304N>T | p.Pro102Ser | p.P102S | Q96A57 | protein_coding | tolerated(0.17) | benign(0.142) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| TMEM230 | SNV | Missense_Mutation | rs780164928 | c.358G>A | p.Ala120Thr | p.A120T | Q96A57 | protein_coding | tolerated(1) | benign(0.015) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| TMEM230 | SNV | Missense_Mutation | rs780164928 | c.358N>A | p.Ala120Thr | p.A120T | Q96A57 | protein_coding | tolerated(1) | benign(0.015) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
| TMEM230 | SNV | Missense_Mutation | rs761361465 | c.268N>A | p.Asp90Asn | p.D90N | Q96A57 | protein_coding | tolerated(0.24) | probably_damaging(0.917) | TCGA-EY-A1GD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| TMEM230 | SNV | Missense_Mutation | c.427N>T | p.Val143Phe | p.V143F | Q96A57 | protein_coding | tolerated(0.72) | benign(0.027) | TCGA-05-4432-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | cisplatin | CR | |
| TMEM230 | SNV | Missense_Mutation | novel | c.257C>G | p.Ser86Cys | p.S86C | Q96A57 | protein_coding | deleterious(0.01) | possibly_damaging(0.871) | TCGA-52-7810-01 | Lung | lung squamous cell 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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