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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 | P23T-E | Human | Esophagus | ESCC | 4.54e-08 | 2.74e-01 | 0.108 |
3104 | ZBTB48 | P24T-E | Human | Esophagus | ESCC | 8.06e-04 | 1.06e-01 | 0.1287 |
3104 | ZBTB48 | P26T-E | Human | Esophagus | ESCC | 1.84e-09 | 1.79e-01 | 0.1276 |
3104 | ZBTB48 | P27T-E | Human | Esophagus | ESCC | 1.50e-12 | 2.80e-01 | 0.1055 |
3104 | ZBTB48 | P28T-E | Human | Esophagus | ESCC | 5.34e-07 | 1.70e-01 | 0.1149 |
3104 | ZBTB48 | P30T-E | Human | Esophagus | ESCC | 3.38e-13 | 4.44e-01 | 0.137 |
3104 | ZBTB48 | P31T-E | Human | Esophagus | ESCC | 8.07e-10 | 1.80e-01 | 0.1251 |
3104 | ZBTB48 | P32T-E | Human | Esophagus | ESCC | 3.90e-09 | 2.38e-01 | 0.1666 |
3104 | ZBTB48 | P37T-E | Human | Esophagus | ESCC | 9.12e-09 | 1.12e-01 | 0.1371 |
3104 | ZBTB48 | P39T-E | Human | Esophagus | ESCC | 2.93e-02 | 1.14e-01 | 0.0894 |
3104 | ZBTB48 | P40T-E | Human | Esophagus | ESCC | 3.52e-07 | 2.06e-01 | 0.109 |
3104 | ZBTB48 | P42T-E | Human | Esophagus | ESCC | 1.32e-08 | 2.73e-01 | 0.1175 |
3104 | ZBTB48 | P44T-E | Human | Esophagus | ESCC | 2.75e-03 | 1.31e-01 | 0.1096 |
3104 | ZBTB48 | P47T-E | Human | Esophagus | ESCC | 9.55e-07 | 1.04e-01 | 0.1067 |
3104 | ZBTB48 | P48T-E | Human | Esophagus | ESCC | 2.14e-12 | 2.27e-01 | 0.0959 |
3104 | ZBTB48 | P49T-E | Human | Esophagus | ESCC | 8.94e-08 | 5.55e-01 | 0.1768 |
3104 | ZBTB48 | P52T-E | Human | Esophagus | ESCC | 8.40e-09 | 2.23e-01 | 0.1555 |
3104 | ZBTB48 | P54T-E | Human | Esophagus | ESCC | 4.64e-08 | 2.33e-01 | 0.0975 |
3104 | ZBTB48 | P56T-E | Human | Esophagus | ESCC | 5.51e-10 | 6.88e-01 | 0.1613 |
3104 | ZBTB48 | P57T-E | Human | Esophagus | ESCC | 2.08e-11 | 2.30e-01 | 0.0926 |
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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 | SNV | Missense_Mutation | c.94G>T | p.Val32Leu | p.V32L | P10074 | protein_coding | tolerated(0.11) | possibly_damaging(0.717) | TCGA-E9-A247-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
ZBTB48 | deletion | Frame_Shift_Del | novel | c.1577delG | p.Cys526LeufsTer12 | p.C526Lfs*12 | P10074 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
ZBTB48 | SNV | Missense_Mutation | novel | c.1096C>T | p.Arg366Trp | p.R366W | P10074 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-VS-A8EJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
ZBTB48 | SNV | Missense_Mutation | c.1697G>A | p.Arg566His | p.R566H | P10074 | protein_coding | tolerated(0.07) | probably_damaging(0.971) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ZBTB48 | SNV | Missense_Mutation | rs751636477 | c.1832N>A | p.Arg611His | p.R611H | P10074 | protein_coding | deleterious(0) | benign(0.299) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ZBTB48 | SNV | Missense_Mutation | rs753725004 | c.1097N>A | p.Arg366Gln | p.R366Q | P10074 | protein_coding | deleterious(0.01) | probably_damaging(0.984) | TCGA-AA-3877-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZBTB48 | SNV | Missense_Mutation | c.1592C>T | p.Thr531Ile | p.T531I | P10074 | protein_coding | deleterious(0.01) | probably_damaging(0.974) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
ZBTB48 | SNV | Missense_Mutation | rs751172145 | c.1508N>A | p.Arg503Gln | p.R503Q | P10074 | protein_coding | deleterious(0.01) | possibly_damaging(0.903) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
ZBTB48 | SNV | Missense_Mutation | c.1454N>A | p.Arg485His | p.R485H | P10074 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
ZBTB48 | SNV | Missense_Mutation | novel | c.1886N>G | p.Gln629Arg | p.Q629R | P10074 | protein_coding | tolerated_low_confidence(0.09) | benign(0.366) | TCGA-G4-6320-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | oxaliplatin | 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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