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Gene: GTF2H4 |
Gene summary for GTF2H4 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | GTF2H4 | Gene ID | 2968 |
| Gene name | general transcription factor IIH subunit 4 | |
| Gene Alias | P52 | |
| Cytomap | 6p21.33 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | A0A1U9X7S4 |
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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 |
| 2968 | GTF2H4 | LZE2T | Human | Esophagus | ESCC | 2.18e-04 | 6.08e-01 | 0.082 |
| 2968 | GTF2H4 | LZE4T | Human | Esophagus | ESCC | 9.66e-09 | 2.42e-01 | 0.0811 |
| 2968 | GTF2H4 | LZE7T | Human | Esophagus | ESCC | 4.33e-11 | 4.15e-01 | 0.0667 |
| 2968 | GTF2H4 | LZE22D1 | Human | Esophagus | HGIN | 3.26e-02 | 1.43e-01 | 0.0595 |
| 2968 | GTF2H4 | LZE24T | Human | Esophagus | ESCC | 8.40e-17 | 3.48e-01 | 0.0596 |
| 2968 | GTF2H4 | LZE21T | Human | Esophagus | ESCC | 9.73e-05 | 2.30e-01 | 0.0655 |
| 2968 | GTF2H4 | LZE6T | Human | Esophagus | ESCC | 1.55e-08 | 3.11e-01 | 0.0845 |
| 2968 | GTF2H4 | P1T-E | Human | Esophagus | ESCC | 2.44e-06 | 2.78e-01 | 0.0875 |
| 2968 | GTF2H4 | P2T-E | Human | Esophagus | ESCC | 3.96e-39 | 5.94e-01 | 0.1177 |
| 2968 | GTF2H4 | P4T-E | Human | Esophagus | ESCC | 6.30e-30 | 5.95e-01 | 0.1323 |
| 2968 | GTF2H4 | P5T-E | Human | Esophagus | ESCC | 5.00e-17 | 2.88e-01 | 0.1327 |
| 2968 | GTF2H4 | P8T-E | Human | Esophagus | ESCC | 1.85e-18 | 3.44e-01 | 0.0889 |
| 2968 | GTF2H4 | P9T-E | Human | Esophagus | ESCC | 1.65e-09 | 2.15e-01 | 0.1131 |
| 2968 | GTF2H4 | P10T-E | Human | Esophagus | ESCC | 1.53e-19 | 3.57e-01 | 0.116 |
| 2968 | GTF2H4 | P11T-E | Human | Esophagus | ESCC | 1.92e-17 | 4.90e-01 | 0.1426 |
| 2968 | GTF2H4 | P12T-E | Human | Esophagus | ESCC | 5.30e-21 | 4.07e-01 | 0.1122 |
| 2968 | GTF2H4 | P15T-E | Human | Esophagus | ESCC | 4.01e-11 | 2.47e-01 | 0.1149 |
| 2968 | GTF2H4 | P16T-E | Human | Esophagus | ESCC | 3.19e-23 | 4.21e-01 | 0.1153 |
| 2968 | GTF2H4 | P17T-E | Human | Esophagus | ESCC | 4.48e-07 | 2.69e-01 | 0.1278 |
| 2968 | GTF2H4 | P19T-E | Human | Esophagus | ESCC | 2.24e-09 | 6.23e-01 | 0.1662 |
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| Transcriptomic changes along malignancy continuum. |
| 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 |
| 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:00708162 | Esophagus | HGIN | phosphorylation of RNA polymerase II C-terminal domain | 6/2587 | 12/18723 | 3.03e-03 | 2.88e-02 | 6 |
| GO:00062892 | Esophagus | HGIN | nucleotide-excision repair | 16/2587 | 60/18723 | 6.22e-03 | 4.95e-02 | 16 |
| GO:00708161 | Esophagus | ESCC | phosphorylation of RNA polymerase II C-terminal domain | 12/8552 | 12/18723 | 8.21e-05 | 6.01e-04 | 12 |
| GO:00062891 | Esophagus | ESCC | nucleotide-excision repair | 42/8552 | 60/18723 | 1.18e-04 | 8.14e-04 | 42 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa034205 | Esophagus | HGIN | Nucleotide excision repair | 29/1383 | 63/8465 | 2.96e-08 | 5.36e-07 | 4.26e-07 | 29 |
| hsa052039 | Esophagus | HGIN | Viral carcinogenesis | 53/1383 | 204/8465 | 2.58e-04 | 2.71e-03 | 2.15e-03 | 53 |
| hsa0342012 | Esophagus | HGIN | Nucleotide excision repair | 29/1383 | 63/8465 | 2.96e-08 | 5.36e-07 | 4.26e-07 | 29 |
| hsa0520315 | Esophagus | HGIN | Viral carcinogenesis | 53/1383 | 204/8465 | 2.58e-04 | 2.71e-03 | 2.15e-03 | 53 |
| hsa0342022 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
| hsa0520325 | Esophagus | ESCC | Viral carcinogenesis | 137/4205 | 204/8465 | 2.47e-07 | 1.88e-06 | 9.62e-07 | 137 |
| hsa030222 | Esophagus | ESCC | Basal transcription factors | 35/4205 | 45/8465 | 1.01e-04 | 4.06e-04 | 2.08e-04 | 35 |
| hsa0342032 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
| hsa0520335 | Esophagus | ESCC | Viral carcinogenesis | 137/4205 | 204/8465 | 2.47e-07 | 1.88e-06 | 9.62e-07 | 137 |
| hsa0302211 | Esophagus | ESCC | Basal transcription factors | 35/4205 | 45/8465 | 1.01e-04 | 4.06e-04 | 2.08e-04 | 35 |
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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 |
| GTF2H4 | SNV | Missense_Mutation | c.995C>T | p.Ser332Phe | p.S332F | Q92759 | protein_coding | deleterious(0.02) | probably_damaging(0.949) | TCGA-LP-A4AV-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| GTF2H4 | SNV | Missense_Mutation | c.1142C>A | p.Pro381His | p.P381H | Q92759 | protein_coding | deleterious(0.03) | possibly_damaging(0.463) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| GTF2H4 | SNV | Missense_Mutation | c.648G>A | p.Met216Ile | p.M216I | Q92759 | protein_coding | tolerated(0.32) | benign(0.017) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| GTF2H4 | SNV | Missense_Mutation | novel | c.696N>T | p.Glu232Asp | p.E232D | Q92759 | protein_coding | tolerated(0.17) | benign(0.078) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
| GTF2H4 | SNV | Missense_Mutation | novel | c.696N>T | p.Glu232Asp | p.E232D | Q92759 | protein_coding | tolerated(0.17) | benign(0.078) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| GTF2H4 | SNV | Missense_Mutation | novel | c.407N>C | p.Leu136Pro | p.L136P | Q92759 | protein_coding | deleterious(0.02) | probably_damaging(0.917) | TCGA-AP-A1E1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| GTF2H4 | SNV | Missense_Mutation | rs767371516 | c.280C>T | p.Arg94Trp | p.R94W | Q92759 | protein_coding | deleterious(0.02) | probably_damaging(0.959) | TCGA-AX-A1C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| GTF2H4 | SNV | Missense_Mutation | rs577023692 | c.344N>A | p.Arg115His | p.R115H | Q92759 | protein_coding | deleterious(0.02) | benign(0.094) | TCGA-B5-A0K6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| GTF2H4 | SNV | Missense_Mutation | rs761519541 | c.356N>A | p.Arg119His | p.R119H | Q92759 | protein_coding | deleterious(0.03) | probably_damaging(0.914) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| GTF2H4 | SNV | Missense_Mutation | rs769077675 | c.1066N>A | p.Ala356Thr | p.A356T | Q92759 | protein_coding | tolerated(0.56) | benign(0.056) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid 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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