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Gene: ZBTB48 |
Gene summary for ZBTB48 |
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Gene information | Species | Human | Gene symbol | ZBTB48 | Gene ID | 3104 |
Gene name | zinc finger and BTB domain containing 48 | |
Gene Alias | HKR3 | |
Cytomap | 1p36.31 | |
Gene Type | protein-coding | GO ID | GO:0000723 | UniProtAcc | A8K291 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
3104 | ZBTB48 | LZE4T | Human | Esophagus | ESCC | 1.31e-02 | 1.36e-01 | 0.0811 |
3104 | ZBTB48 | LZE7T | Human | Esophagus | ESCC | 5.05e-06 | 3.34e-01 | 0.0667 |
3104 | ZBTB48 | LZE8T | Human | Esophagus | ESCC | 7.33e-07 | 2.17e-01 | 0.067 |
3104 | ZBTB48 | LZE20T | Human | Esophagus | ESCC | 2.51e-07 | 2.75e-01 | 0.0662 |
3104 | ZBTB48 | LZE24T | Human | Esophagus | ESCC | 4.51e-10 | 2.69e-01 | 0.0596 |
3104 | ZBTB48 | LZE21T | Human | Esophagus | ESCC | 6.87e-03 | 2.37e-01 | 0.0655 |
3104 | ZBTB48 | P1T-E | Human | Esophagus | ESCC | 2.88e-04 | 2.61e-01 | 0.0875 |
3104 | ZBTB48 | P2T-E | Human | Esophagus | ESCC | 1.74e-12 | 2.36e-01 | 0.1177 |
3104 | ZBTB48 | P4T-E | Human | Esophagus | ESCC | 3.11e-05 | 1.93e-01 | 0.1323 |
3104 | ZBTB48 | P5T-E | Human | Esophagus | ESCC | 2.68e-04 | 1.62e-01 | 0.1327 |
3104 | ZBTB48 | P8T-E | Human | Esophagus | ESCC | 1.08e-11 | 2.22e-01 | 0.0889 |
3104 | ZBTB48 | P9T-E | Human | Esophagus | ESCC | 5.81e-15 | 2.05e-01 | 0.1131 |
3104 | ZBTB48 | P10T-E | Human | Esophagus | ESCC | 4.83e-16 | 3.00e-01 | 0.116 |
3104 | ZBTB48 | P11T-E | Human | Esophagus | ESCC | 9.27e-05 | 2.78e-01 | 0.1426 |
3104 | ZBTB48 | P12T-E | Human | Esophagus | ESCC | 1.19e-08 | 1.88e-01 | 0.1122 |
3104 | ZBTB48 | P15T-E | Human | Esophagus | ESCC | 5.65e-14 | 3.20e-01 | 0.1149 |
3104 | ZBTB48 | P16T-E | Human | Esophagus | ESCC | 2.32e-09 | 1.75e-01 | 0.1153 |
3104 | ZBTB48 | P20T-E | Human | Esophagus | ESCC | 6.24e-13 | 2.97e-01 | 0.1124 |
3104 | ZBTB48 | P21T-E | Human | Esophagus | ESCC | 1.23e-12 | 2.53e-01 | 0.1617 |
3104 | ZBTB48 | P22T-E | Human | Esophagus | ESCC | 1.30e-07 | 1.65e-01 | 0.1236 |
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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:000072319 | Esophagus | ESCC | telomere maintenance | 99/8552 | 131/18723 | 2.68e-12 | 1.08e-10 | 99 |
GO:001083319 | Esophagus | ESCC | telomere maintenance via telomere lengthening | 61/8552 | 81/18723 | 5.24e-08 | 9.37e-07 | 61 |
GO:003220014 | Esophagus | ESCC | telomere organization | 99/8552 | 159/18723 | 1.77e-05 | 1.57e-04 | 99 |
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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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∗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 |
ZBTB48 | deletion | Frame_Shift_Del | c.2046delN | p.Glu684ArgfsTer? | p.E684Rfs*? | P10074 | protein_coding | TCGA-D5-6540-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |||
ZBTB48 | SNV | Missense_Mutation | c.1191N>T | p.Met397Ile | p.M397I | P10074 | protein_coding | deleterious(0.03) | benign(0.014) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ZBTB48 | SNV | Missense_Mutation | novel | c.1319N>C | p.Glu440Ala | p.E440A | P10074 | protein_coding | deleterious(0) | benign(0.018) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZBTB48 | SNV | Missense_Mutation | c.1697N>A | p.Arg566His | p.R566H | P10074 | protein_coding | tolerated(0.07) | probably_damaging(0.971) | TCGA-AJ-A3OJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR | |
ZBTB48 | SNV | Missense_Mutation | rs368770242 | c.1840N>T | p.Arg614Cys | p.R614C | P10074 | protein_coding | deleterious(0) | probably_damaging(0.959) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZBTB48 | SNV | Missense_Mutation | novel | c.106N>A | p.Val36Met | p.V36M | P10074 | protein_coding | tolerated(0.06) | possibly_damaging(0.57) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ZBTB48 | SNV | Missense_Mutation | novel | c.1431G>T | p.Lys477Asn | p.K477N | P10074 | protein_coding | deleterious(0) | possibly_damaging(0.844) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
ZBTB48 | SNV | Missense_Mutation | c.1055G>A | p.Cys352Tyr | p.C352Y | P10074 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD | |
ZBTB48 | SNV | Missense_Mutation | novel | c.1417G>A | p.Ala473Thr | p.A473T | P10074 | protein_coding | deleterious(0.05) | probably_damaging(0.993) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZBTB48 | SNV | Missense_Mutation | novel | c.1635N>T | p.Gln545His | p.Q545H | P10074 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-D1-A103-01 | 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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