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Gene: TMEM246 |
Gene summary for TMEM246 |
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Gene information | Species | Human | Gene symbol | TMEM246 | Gene ID | 84302 |
Gene name | post-GPI attachment to proteins GalNAc transferase 4 | |
Gene Alias | C9orf125 | |
Cytomap | 9q31.1 | |
Gene Type | protein-coding | GO ID | GO:0006464 | UniProtAcc | A0A024R188 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
84302 | TMEM246 | LZE4T | Human | Esophagus | ESCC | 1.10e-02 | 1.90e-01 | 0.0811 |
84302 | TMEM246 | LZE7T | Human | Esophagus | ESCC | 5.60e-03 | 2.73e-01 | 0.0667 |
84302 | TMEM246 | LZE8T | Human | Esophagus | ESCC | 1.14e-02 | 9.41e-02 | 0.067 |
84302 | TMEM246 | LZE20T | Human | Esophagus | ESCC | 7.83e-03 | 1.36e-01 | 0.0662 |
84302 | TMEM246 | LZE24T | Human | Esophagus | ESCC | 1.21e-16 | 5.52e-01 | 0.0596 |
84302 | TMEM246 | P2T-E | Human | Esophagus | ESCC | 2.64e-25 | 4.45e-01 | 0.1177 |
84302 | TMEM246 | P4T-E | Human | Esophagus | ESCC | 2.63e-09 | 2.54e-01 | 0.1323 |
84302 | TMEM246 | P5T-E | Human | Esophagus | ESCC | 1.76e-02 | 2.85e-02 | 0.1327 |
84302 | TMEM246 | P8T-E | Human | Esophagus | ESCC | 1.42e-17 | 3.34e-01 | 0.0889 |
84302 | TMEM246 | P9T-E | Human | Esophagus | ESCC | 3.01e-11 | 4.44e-01 | 0.1131 |
84302 | TMEM246 | P10T-E | Human | Esophagus | ESCC | 1.89e-20 | 3.70e-01 | 0.116 |
84302 | TMEM246 | P12T-E | Human | Esophagus | ESCC | 2.41e-16 | 4.81e-01 | 0.1122 |
84302 | TMEM246 | P15T-E | Human | Esophagus | ESCC | 9.22e-21 | 5.34e-01 | 0.1149 |
84302 | TMEM246 | P16T-E | Human | Esophagus | ESCC | 6.46e-20 | 1.85e-01 | 0.1153 |
84302 | TMEM246 | P20T-E | Human | Esophagus | ESCC | 2.64e-11 | 1.77e-01 | 0.1124 |
84302 | TMEM246 | P21T-E | Human | Esophagus | ESCC | 1.06e-05 | 8.03e-03 | 0.1617 |
84302 | TMEM246 | P22T-E | Human | Esophagus | ESCC | 1.97e-13 | 1.87e-01 | 0.1236 |
84302 | TMEM246 | P23T-E | Human | Esophagus | ESCC | 4.86e-16 | 3.88e-01 | 0.108 |
84302 | TMEM246 | P24T-E | Human | Esophagus | ESCC | 2.00e-04 | 5.77e-02 | 0.1287 |
84302 | TMEM246 | P26T-E | Human | Esophagus | ESCC | 3.20e-35 | 6.02e-01 | 0.1276 |
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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 |
Breast | Precancer | ![]() |
Breast | IDC | ![]() |
Breast | DCIS | ![]() |
Cervix | CC | ![]() |
Cervix | HSIL_HPV | ![]() |
∗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 |
TMEM246 | SNV | Missense_Mutation | c.741N>A | p.His247Gln | p.H247Q | Q9BRR3 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A04V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD | |
TMEM246 | SNV | Missense_Mutation | rs149643147 | c.952N>T | p.Arg318Trp | p.R318W | Q9BRR3 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMEM246 | SNV | Missense_Mutation | rs199665312 | c.1034N>A | p.Arg345His | p.R345H | Q9BRR3 | protein_coding | tolerated(0.58) | benign(0) | TCGA-AN-A0G0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMEM246 | SNV | Missense_Mutation | novel | c.1070N>G | p.His357Arg | p.H357R | Q9BRR3 | protein_coding | tolerated(0.72) | benign(0) | TCGA-BH-A0BZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
TMEM246 | SNV | Missense_Mutation | rs747277975 | c.500N>A | p.Arg167His | p.R167H | Q9BRR3 | protein_coding | deleterious(0.02) | benign(0.219) | TCGA-C8-A1HI-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TMEM246 | SNV | Missense_Mutation | c.1033N>T | p.Arg345Cys | p.R345C | Q9BRR3 | protein_coding | tolerated(0.18) | benign(0.431) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD | |
TMEM246 | insertion | Nonsense_Mutation | novel | c.372_373insCCGCCCAGGGTTTAGCTGGCCTGTAATGCTC | p.Phe125ProfsTer5 | p.F125Pfs*5 | Q9BRR3 | protein_coding | TCGA-BH-A0B8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | ||
TMEM246 | SNV | Missense_Mutation | c.1183N>T | p.Arg395Trp | p.R395W | Q9BRR3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
TMEM246 | SNV | Missense_Mutation | rs200409438 | c.685N>T | p.Arg229Trp | p.R229W | Q9BRR3 | protein_coding | deleterious(0.02) | possibly_damaging(0.533) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
TMEM246 | SNV | Missense_Mutation | c.1141N>A | p.Glu381Lys | p.E381K | Q9BRR3 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | 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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