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Gene: GBA |
Gene summary for GBA |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | GBA | Gene ID | 2629 |
| Gene name | glucosylceramidase beta | |
| Gene Alias | GBA1 | |
| Cytomap | 1q22 | |
| Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | A0A068F658 |
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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 |
| 2629 | GBA | LZE4T | Human | Esophagus | ESCC | 3.78e-08 | 2.23e-01 | 0.0811 |
| 2629 | GBA | LZE5T | Human | Esophagus | ESCC | 1.40e-06 | 3.27e-01 | 0.0514 |
| 2629 | GBA | LZE7T | Human | Esophagus | ESCC | 9.32e-08 | 3.09e-01 | 0.0667 |
| 2629 | GBA | LZE8T | Human | Esophagus | ESCC | 6.71e-04 | 1.58e-01 | 0.067 |
| 2629 | GBA | LZE20T | Human | Esophagus | ESCC | 1.97e-04 | 1.77e-01 | 0.0662 |
| 2629 | GBA | LZE22T | Human | Esophagus | ESCC | 1.48e-05 | 4.06e-01 | 0.068 |
| 2629 | GBA | LZE24T | Human | Esophagus | ESCC | 8.28e-18 | 4.00e-01 | 0.0596 |
| 2629 | GBA | LZE21T | Human | Esophagus | ESCC | 8.02e-04 | 3.13e-01 | 0.0655 |
| 2629 | GBA | LZE6T | Human | Esophagus | ESCC | 1.71e-05 | 2.57e-01 | 0.0845 |
| 2629 | GBA | P1T-E | Human | Esophagus | ESCC | 1.05e-09 | 4.22e-01 | 0.0875 |
| 2629 | GBA | P2T-E | Human | Esophagus | ESCC | 5.95e-29 | 4.51e-01 | 0.1177 |
| 2629 | GBA | P4T-E | Human | Esophagus | ESCC | 1.01e-26 | 5.30e-01 | 0.1323 |
| 2629 | GBA | P5T-E | Human | Esophagus | ESCC | 8.08e-19 | 3.05e-01 | 0.1327 |
| 2629 | GBA | P8T-E | Human | Esophagus | ESCC | 2.56e-16 | 2.84e-01 | 0.0889 |
| 2629 | GBA | P9T-E | Human | Esophagus | ESCC | 4.90e-17 | 3.59e-01 | 0.1131 |
| 2629 | GBA | P10T-E | Human | Esophagus | ESCC | 8.84e-05 | 1.28e-01 | 0.116 |
| 2629 | GBA | P11T-E | Human | Esophagus | ESCC | 2.94e-14 | 4.93e-01 | 0.1426 |
| 2629 | GBA | P12T-E | Human | Esophagus | ESCC | 6.56e-15 | 2.78e-01 | 0.1122 |
| 2629 | GBA | P15T-E | Human | Esophagus | ESCC | 5.63e-18 | 3.42e-01 | 0.1149 |
| 2629 | GBA | P16T-E | Human | Esophagus | ESCC | 2.86e-20 | 3.56e-01 | 0.1153 |
| Page: 1 2 3 4 5 |
| 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 | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:00070402 | Oral cavity | OSCC | lysosome organization | 51/7305 | 74/18723 | 1.77e-07 | 2.87e-06 | 51 |
| GO:00801712 | Oral cavity | OSCC | lytic vacuole organization | 51/7305 | 74/18723 | 1.77e-07 | 2.87e-06 | 51 |
| GO:003166918 | Oral cavity | OSCC | cellular response to nutrient levels | 121/7305 | 215/18723 | 1.96e-07 | 3.17e-06 | 121 |
| GO:004211016 | Oral cavity | OSCC | T cell activation | 245/7305 | 487/18723 | 2.00e-07 | 3.22e-06 | 245 |
| GO:011005320 | Oral cavity | OSCC | regulation of actin filament organization | 150/7305 | 278/18723 | 2.68e-07 | 4.15e-06 | 150 |
| GO:00435887 | Oral cavity | OSCC | skin development | 143/7305 | 263/18723 | 2.77e-07 | 4.27e-06 | 143 |
| GO:005140217 | Oral cavity | OSCC | neuron apoptotic process | 134/7305 | 246/18723 | 5.65e-07 | 8.19e-06 | 134 |
| GO:004259416 | Oral cavity | OSCC | response to starvation | 111/7305 | 197/18723 | 5.68e-07 | 8.19e-06 | 111 |
| GO:000926717 | Oral cavity | OSCC | cellular response to starvation | 91/7305 | 156/18723 | 7.55e-07 | 1.06e-05 | 91 |
| GO:00434054 | Oral cavity | OSCC | regulation of MAP kinase activity | 101/7305 | 177/18723 | 8.13e-07 | 1.12e-05 | 101 |
| GO:00719013 | Oral cavity | OSCC | negative regulation of protein serine/threonine kinase activity | 72/7305 | 120/18723 | 2.53e-06 | 3.17e-05 | 72 |
| GO:001988220 | Oral cavity | OSCC | antigen processing and presentation | 65/7305 | 106/18723 | 2.69e-06 | 3.32e-05 | 65 |
| GO:00467855 | Oral cavity | OSCC | microtubule polymerization | 53/7305 | 83/18723 | 3.96e-06 | 4.65e-05 | 53 |
| GO:000806417 | Oral cavity | OSCC | regulation of actin polymerization or depolymerization | 104/7305 | 188/18723 | 3.99e-06 | 4.66e-05 | 104 |
| GO:00066432 | Oral cavity | OSCC | membrane lipid metabolic process | 111/7305 | 203/18723 | 4.02e-06 | 4.69e-05 | 111 |
| GO:19050374 | Oral cavity | OSCC | autophagosome organization | 63/7305 | 103/18723 | 4.30e-06 | 4.98e-05 | 63 |
| GO:00060667 | Oral cavity | OSCC | alcohol metabolic process | 179/7305 | 353/18723 | 4.54e-06 | 5.21e-05 | 179 |
| GO:003083216 | Oral cavity | OSCC | regulation of actin filament length | 104/7305 | 189/18723 | 5.48e-06 | 6.14e-05 | 104 |
| GO:003083318 | Oral cavity | OSCC | regulation of actin filament polymerization | 96/7305 | 172/18723 | 5.56e-06 | 6.20e-05 | 96 |
| GO:000815418 | Oral cavity | OSCC | actin polymerization or depolymerization | 117/7305 | 218/18723 | 7.38e-06 | 8.04e-05 | 117 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0414222 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
| hsa006003 | Esophagus | ESCC | Sphingolipid metabolism | 36/4205 | 53/8465 | 5.41e-03 | 1.36e-02 | 6.99e-03 | 36 |
| hsa0414232 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
| hsa0060012 | Esophagus | ESCC | Sphingolipid metabolism | 36/4205 | 53/8465 | 5.41e-03 | 1.36e-02 | 6.99e-03 | 36 |
| hsa041422 | Liver | HCC | Lysosome | 100/4020 | 132/8465 | 2.32e-11 | 4.31e-10 | 2.40e-10 | 100 |
| hsa00511 | Liver | HCC | Other glycan degradation | 15/4020 | 18/8465 | 1.96e-03 | 6.91e-03 | 3.84e-03 | 15 |
| hsa00600 | Liver | HCC | Sphingolipid metabolism | 34/4020 | 53/8465 | 1.06e-02 | 2.71e-02 | 1.51e-02 | 34 |
| hsa041423 | Liver | HCC | Lysosome | 100/4020 | 132/8465 | 2.32e-11 | 4.31e-10 | 2.40e-10 | 100 |
| hsa005111 | Liver | HCC | Other glycan degradation | 15/4020 | 18/8465 | 1.96e-03 | 6.91e-03 | 3.84e-03 | 15 |
| hsa006001 | Liver | HCC | Sphingolipid metabolism | 34/4020 | 53/8465 | 1.06e-02 | 2.71e-02 | 1.51e-02 | 34 |
| hsa041425 | Oral cavity | OSCC | Lysosome | 87/3704 | 132/8465 | 1.97e-07 | 1.35e-06 | 6.86e-07 | 87 |
| hsa006002 | Oral cavity | OSCC | Sphingolipid metabolism | 33/3704 | 53/8465 | 5.00e-03 | 1.20e-02 | 6.13e-03 | 33 |
| hsa0414212 | Oral cavity | OSCC | Lysosome | 87/3704 | 132/8465 | 1.97e-07 | 1.35e-06 | 6.86e-07 | 87 |
| hsa0060011 | Oral cavity | OSCC | Sphingolipid metabolism | 33/3704 | 53/8465 | 5.00e-03 | 1.20e-02 | 6.13e-03 | 33 |
| hsa0414221 | Oral cavity | LP | Lysosome | 67/2418 | 132/8465 | 5.13e-08 | 7.77e-07 | 5.01e-07 | 67 |
| hsa0414231 | Oral cavity | LP | Lysosome | 67/2418 | 132/8465 | 5.13e-08 | 7.77e-07 | 5.01e-07 | 67 |
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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 |
| GBA | SNV | Missense_Mutation | c.1448N>C | p.Leu483Pro | p.L483P | P04062 | protein_coding | deleterious(0.02) | possibly_damaging(0.821) | TCGA-A2-A3XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | PD | |
| GBA | SNV | Missense_Mutation | novel | c.46N>G | p.Ser16Gly | p.S16G | P04062 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-AQ-A7U7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | rituximab | CR |
| GBA | SNV | Missense_Mutation | c.840N>C | p.Leu280Phe | p.L280F | P04062 | protein_coding | tolerated(0.28) | benign(0) | TCGA-C8-A278-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | SD | |
| GBA | insertion | Frame_Shift_Ins | novel | c.232_233insATACTCTCCTATTGACTCGGACT | p.Arg78HisfsTer21 | p.R78Hfs*21 | P04062 | protein_coding | TCGA-AN-A0FT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| GBA | SNV | Missense_Mutation | c.1072C>G | p.Pro358Ala | p.P358A | P04062 | protein_coding | deleterious(0.02) | possibly_damaging(0.732) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| GBA | SNV | Missense_Mutation | rs759983265 | c.23N>C | p.Arg8Thr | p.R8T | P04062 | protein_coding | deleterious_low_confidence(0.05) | benign(0.007) | TCGA-VS-A9UZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| GBA | SNV | Missense_Mutation | rs79696831 | c.971G>A | p.Arg324His | p.R324H | P04062 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| GBA | SNV | Missense_Mutation | c.1342N>C | p.Asp448His | p.D448H | P04062 | protein_coding | tolerated(0.05) | benign(0.093) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| GBA | SNV | Missense_Mutation | c.1300N>T | p.Arg434Cys | p.R434C | P04062 | protein_coding | deleterious(0) | possibly_damaging(0.647) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| GBA | SNV | Missense_Mutation | c.688N>A | p.Val230Met | p.V230M | P04062 | protein_coding | tolerated(0.84) | benign(0.011) | TCGA-A5-A0GW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 |
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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 |
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | GNF-PF-4085 | CHEMBL528181 | ||
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | APTIGANEL HYDROCHLORIDE | APTIGANEL HYDROCHLORIDE | ||
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | AFEGOSTAT | AFEGOSTAT | 21250698 | |
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | 404859139 | AMBROXOL | ||
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | SJ000170251 | CHEMBL603154 | ||
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | GENISTEIN | GENISTEIN | ||
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | SULFANITRAN | SULFANITRAN | ||
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | CHLORHEXIDINE | CHLORHEXIDINE | ||
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | DNDI1417773 | CHEMBL1379900 | ||
| 2629 | GBA | DRUGGABLE GENOME, ENZYME | GNF-PF-2094 | CHEMBL578928 |
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