|
|||||
|
 | |
| |
| |
| |
| |
| |
|
Gene: GBE1 |
Gene summary for GBE1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | GBE1 | Gene ID | 2632 |
| Gene name | 1,4-alpha-glucan branching enzyme 1 | |
| Gene Alias | APBD | |
| Cytomap | 3p12.2 | |
| Gene Type | protein-coding | GO ID | GO:0000271 | UniProtAcc | Q04446 |
Top |
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 |
| 2632 | GBE1 | AEH-subject1 | Human | Endometrium | AEH | 8.11e-10 | 4.03e-01 | -0.3059 |
| 2632 | GBE1 | AEH-subject2 | Human | Endometrium | AEH | 9.13e-05 | 3.46e-01 | -0.2525 |
| 2632 | GBE1 | AEH-subject3 | Human | Endometrium | AEH | 8.29e-05 | 2.67e-01 | -0.2576 |
| 2632 | GBE1 | EEC-subject1 | Human | Endometrium | EEC | 1.64e-08 | 4.11e-01 | -0.2682 |
| 2632 | GBE1 | EEC-subject2 | Human | Endometrium | EEC | 4.14e-03 | 2.05e-01 | -0.2607 |
| 2632 | GBE1 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 7.32e-05 | 7.85e-02 | -0.1869 |
| 2632 | GBE1 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 1.23e-03 | 8.40e-02 | -0.1875 |
| 2632 | GBE1 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 1.52e-04 | 8.96e-03 | -0.1883 |
| 2632 | GBE1 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 1.99e-52 | 1.03e+00 | -0.1934 |
| 2632 | GBE1 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.07e-09 | -5.85e-02 | -0.1917 |
| 2632 | GBE1 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 4.86e-09 | -6.18e-02 | -0.1916 |
| 2632 | GBE1 | LZE4T | Human | Esophagus | ESCC | 1.51e-12 | 3.87e-01 | 0.0811 |
| 2632 | GBE1 | LZE8T | Human | Esophagus | ESCC | 3.24e-10 | 2.82e-01 | 0.067 |
| 2632 | GBE1 | P2T-E | Human | Esophagus | ESCC | 5.11e-21 | 1.28e-01 | 0.1177 |
| 2632 | GBE1 | P4T-E | Human | Esophagus | ESCC | 6.76e-07 | 1.78e-01 | 0.1323 |
| 2632 | GBE1 | P5T-E | Human | Esophagus | ESCC | 1.87e-03 | 1.15e-01 | 0.1327 |
| 2632 | GBE1 | P8T-E | Human | Esophagus | ESCC | 5.44e-10 | 6.04e-02 | 0.0889 |
| 2632 | GBE1 | P9T-E | Human | Esophagus | ESCC | 7.89e-15 | 1.52e-01 | 0.1131 |
| 2632 | GBE1 | P10T-E | Human | Esophagus | ESCC | 7.85e-18 | 1.76e-01 | 0.116 |
| 2632 | GBE1 | P11T-E | Human | Esophagus | ESCC | 6.23e-14 | 4.20e-01 | 0.1426 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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. |
Top |
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:001598010 | Endometrium | AEH | energy derivation by oxidation of organic compounds | 93/2100 | 318/18723 | 8.51e-19 | 5.10e-16 | 93 |
| GO:000609110 | Endometrium | AEH | generation of precursor metabolites and energy | 121/2100 | 490/18723 | 1.65e-17 | 8.23e-15 | 121 |
| GO:190121416 | Endometrium | AEH | regulation of neuron death | 51/2100 | 319/18723 | 5.82e-03 | 3.55e-02 | 51 |
| GO:007099716 | Endometrium | AEH | neuron death | 56/2100 | 361/18723 | 7.51e-03 | 4.26e-02 | 56 |
| GO:001598015 | Endometrium | EEC | energy derivation by oxidation of organic compounds | 97/2168 | 318/18723 | 5.37e-20 | 3.58e-17 | 97 |
| GO:000609115 | Endometrium | EEC | generation of precursor metabolites and energy | 125/2168 | 490/18723 | 3.76e-18 | 1.88e-15 | 125 |
| GO:007099717 | Endometrium | EEC | neuron death | 60/2168 | 361/18723 | 2.49e-03 | 1.83e-02 | 60 |
| GO:190121417 | Endometrium | EEC | regulation of neuron death | 54/2168 | 319/18723 | 2.67e-03 | 1.93e-02 | 54 |
| GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
| GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
| GO:0070997111 | Esophagus | ESCC | neuron death | 216/8552 | 361/18723 | 3.49e-08 | 6.45e-07 | 216 |
| GO:0051402110 | Esophagus | ESCC | neuron apoptotic process | 148/8552 | 246/18723 | 3.08e-06 | 3.47e-05 | 148 |
| GO:1901214111 | Esophagus | ESCC | regulation of neuron death | 186/8552 | 319/18723 | 3.35e-06 | 3.73e-05 | 186 |
| GO:00442626 | Esophagus | ESCC | cellular carbohydrate metabolic process | 160/8552 | 283/18723 | 1.43e-04 | 9.66e-04 | 160 |
| GO:00160514 | Esophagus | ESCC | carbohydrate biosynthetic process | 117/8552 | 202/18723 | 2.96e-04 | 1.79e-03 | 117 |
| GO:004352317 | Esophagus | ESCC | regulation of neuron apoptotic process | 122/8552 | 212/18723 | 3.21e-04 | 1.90e-03 | 122 |
| GO:190121516 | Esophagus | ESCC | negative regulation of neuron death | 115/8552 | 208/18723 | 3.24e-03 | 1.34e-02 | 115 |
| GO:00346372 | Esophagus | ESCC | cellular carbohydrate biosynthetic process | 46/8552 | 78/18723 | 1.24e-02 | 4.13e-02 | 46 |
| GO:00060917 | Liver | NAFLD | generation of precursor metabolites and energy | 84/1882 | 490/18723 | 7.03e-07 | 3.95e-05 | 84 |
| GO:00442623 | Liver | NAFLD | cellular carbohydrate metabolic process | 55/1882 | 283/18723 | 1.27e-06 | 6.01e-05 | 55 |
| Page: 1 2 3 4 5 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
Top |
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 |
Top |
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 |
Top |
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 |
| GBE1 | SNV | Missense_Mutation | novel | c.249N>A | p.Asp83Glu | p.D83E | Q04446 | protein_coding | tolerated(0.19) | benign(0.031) | TCGA-A7-A6VY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
| GBE1 | SNV | Missense_Mutation | novel | c.1054N>T | p.Asp352Tyr | p.D352Y | Q04446 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| GBE1 | SNV | Missense_Mutation | c.605N>G | p.Ser202Cys | p.S202C | Q04446 | protein_coding | tolerated(0.26) | benign(0.003) | TCGA-AO-A0JM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| GBE1 | SNV | Missense_Mutation | novel | c.1442A>T | p.Asp481Val | p.D481V | Q04446 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AQ-A54O-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Chemotherapy | adriamycin | CR |
| GBE1 | SNV | Missense_Mutation | rs772802187 | c.1825N>A | p.Glu609Lys | p.E609K | Q04446 | protein_coding | deleterious(0) | possibly_damaging(0.703) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
| GBE1 | SNV | Missense_Mutation | c.1853N>C | p.Arg618Thr | p.R618T | Q04446 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C8-A134-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
| GBE1 | SNV | Missense_Mutation | novel | c.848N>C | p.Val283Ala | p.V283A | Q04446 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-GI-A2C9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | SD | |
| GBE1 | SNV | Missense_Mutation | rs200580762 | c.1388N>T | p.Thr463Met | p.T463M | Q04446 | protein_coding | deleterious(0.02) | probably_damaging(0.981) | TCGA-OL-A66N-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| GBE1 | SNV | Missense_Mutation | rs780840389 | c.1580N>T | p.Thr527Met | p.T527M | Q04446 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-S3-AA0Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Ancillary | neulasta | CR |
| GBE1 | deletion | Frame_Shift_Del | novel | c.1852delN | p.Arg618GlufsTer33 | p.R618Efs*33 | Q04446 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
| Page: 1 2 3 4 5 6 7 8 |
Top |
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 |
| Page: 1 |
Copyright 2023-Present -The University of Texas Health Science Center at Houston |