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Gene: TMEM130 |
Gene summary for TMEM130 |
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Gene information | Species | Human | Gene symbol | TMEM130 | Gene ID | 222865 |
Gene name | transmembrane protein 130 | |
Gene Alias | TMEM130 | |
Cytomap | 7q22.1 | |
Gene Type | protein-coding | GO ID | GO:0000139 | UniProtAcc | Q8N3G9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
222865 | TMEM130 | HCC1 | Human | Liver | HCC | 3.04e-11 | 1.22e+00 | 0.5336 |
222865 | TMEM130 | HCC2 | Human | Liver | HCC | 3.31e-22 | 1.49e+00 | 0.5341 |
222865 | TMEM130 | HCC5 | Human | Liver | HCC | 1.75e-23 | 1.42e+00 | 0.4932 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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 |
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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 |
TMEM130 | SNV | Missense_Mutation | rs781824607 | c.193G>A | p.Ala65Thr | p.A65T | Q8N3G9 | protein_coding | tolerated(0.89) | benign(0) | TCGA-AG-3885-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
TMEM130 | SNV | Missense_Mutation | novel | c.954N>T | p.Glu318Asp | p.E318D | Q8N3G9 | protein_coding | deleterious(0.01) | possibly_damaging(0.831) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
TMEM130 | SNV | Missense_Mutation | rs781821788 | c.493G>A | p.Asp165Asn | p.D165N | Q8N3G9 | protein_coding | deleterious(0.01) | probably_damaging(0.947) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
TMEM130 | SNV | Missense_Mutation | novel | c.577G>T | p.Val193Leu | p.V193L | Q8N3G9 | protein_coding | tolerated(0.59) | benign(0.003) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMEM130 | SNV | Missense_Mutation | c.853G>A | p.Glu285Lys | p.E285K | Q8N3G9 | protein_coding | deleterious(0.05) | benign(0.043) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
TMEM130 | SNV | Missense_Mutation | rs376067598 | c.295G>A | p.Val99Met | p.V99M | Q8N3G9 | protein_coding | tolerated(0.12) | benign(0.01) | TCGA-AP-A054-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |
TMEM130 | SNV | Missense_Mutation | novel | c.1221N>T | p.Glu407Asp | p.E407D | Q8N3G9 | protein_coding | tolerated(0.25) | benign(0.006) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMEM130 | SNV | Missense_Mutation | novel | c.1093N>T | p.Ala365Ser | p.A365S | Q8N3G9 | protein_coding | tolerated(0.81) | benign(0.199) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMEM130 | SNV | Missense_Mutation | novel | c.1164N>T | p.Glu388Asp | p.E388D | Q8N3G9 | protein_coding | tolerated(0.13) | possibly_damaging(0.633) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
TMEM130 | SNV | Missense_Mutation | c.986A>C | p.Lys329Thr | p.K329T | Q8N3G9 | protein_coding | tolerated(0.14) | benign(0.047) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <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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