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Gene: GBA2 |
Gene summary for GBA2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | GBA2 | Gene ID | 57704 |
| Gene name | glucosylceramidase beta 2 | |
| Gene Alias | AD035 | |
| Cytomap | 9p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | Q9HCG7 |
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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 |
| 57704 | GBA2 | HCC1_Meng | Human | Liver | HCC | 5.82e-32 | 3.32e-02 | 0.0246 |
| 57704 | GBA2 | HCC1 | Human | Liver | HCC | 1.48e-05 | 4.07e+00 | 0.5336 |
| 57704 | GBA2 | HCC2 | Human | Liver | HCC | 1.46e-08 | 4.08e+00 | 0.5341 |
| 57704 | GBA2 | S015 | Human | Liver | HCC | 6.22e-05 | 4.24e-01 | 0.2375 |
| 57704 | GBA2 | S016 | Human | Liver | HCC | 3.01e-03 | 2.78e-01 | 0.2243 |
| 57704 | GBA2 | S028 | Human | Liver | HCC | 4.52e-06 | 3.85e-01 | 0.2503 |
| 57704 | GBA2 | S029 | Human | Liver | HCC | 2.64e-08 | 4.37e-01 | 0.2581 |
| 57704 | GBA2 | C04 | Human | Oral cavity | OSCC | 1.92e-05 | 1.99e-01 | 0.2633 |
| 57704 | GBA2 | C21 | Human | Oral cavity | OSCC | 2.96e-07 | 1.85e-01 | 0.2678 |
| 57704 | GBA2 | C30 | Human | Oral cavity | OSCC | 4.10e-27 | 8.38e-01 | 0.3055 |
| 57704 | GBA2 | C43 | Human | Oral cavity | OSCC | 3.55e-02 | 1.26e-01 | 0.1704 |
| 57704 | GBA2 | C46 | Human | Oral cavity | OSCC | 7.84e-06 | 1.11e-01 | 0.1673 |
| 57704 | GBA2 | C51 | Human | Oral cavity | OSCC | 1.86e-02 | 2.20e-01 | 0.2674 |
| 57704 | GBA2 | C57 | Human | Oral cavity | OSCC | 4.67e-05 | 1.41e-01 | 0.1679 |
| 57704 | GBA2 | C06 | Human | Oral cavity | OSCC | 1.86e-02 | 5.49e-01 | 0.2699 |
| 57704 | GBA2 | LP15 | Human | Oral cavity | LP | 3.27e-05 | 5.26e-01 | 0.2174 |
| 57704 | GBA2 | SYSMH1 | Human | Oral cavity | OSCC | 6.90e-03 | 1.33e-01 | 0.1127 |
| 57704 | GBA2 | SYSMH2 | Human | Oral cavity | OSCC | 3.51e-02 | 1.53e-01 | 0.2326 |
| 57704 | GBA2 | SYSMH3 | Human | Oral cavity | OSCC | 2.93e-11 | 2.51e-01 | 0.2442 |
| 57704 | GBA2 | SYSMH6 | Human | Oral cavity | OSCC | 2.86e-02 | 1.07e-01 | 0.1275 |
| Page: 1 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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:004325422 | Liver | HCC | regulation of protein-containing complex assembly | 264/7958 | 428/18723 | 5.47e-16 | 4.39e-14 | 264 |
| GO:005125822 | Liver | HCC | protein polymerization | 182/7958 | 297/18723 | 4.17e-11 | 1.58e-09 | 182 |
| GO:190290322 | Liver | HCC | regulation of supramolecular fiber organization | 224/7958 | 383/18723 | 1.54e-10 | 5.33e-09 | 224 |
| GO:000606621 | Liver | HCC | alcohol metabolic process | 208/7958 | 353/18723 | 2.80e-10 | 9.50e-09 | 208 |
| GO:19026522 | Liver | HCC | secondary alcohol metabolic process | 100/7958 | 147/18723 | 3.26e-10 | 1.09e-08 | 100 |
| GO:000701522 | Liver | HCC | actin filament organization | 252/7958 | 442/18723 | 3.83e-10 | 1.25e-08 | 252 |
| GO:00082032 | Liver | HCC | cholesterol metabolic process | 94/7958 | 137/18723 | 5.39e-10 | 1.72e-08 | 94 |
| GO:00082022 | Liver | HCC | steroid metabolic process | 188/7958 | 319/18723 | 1.96e-09 | 5.63e-08 | 188 |
| GO:00161252 | Liver | HCC | sterol metabolic process | 101/7958 | 152/18723 | 1.99e-09 | 5.63e-08 | 101 |
| GO:004424222 | Liver | HCC | cellular lipid catabolic process | 134/7958 | 214/18723 | 2.07e-09 | 5.79e-08 | 134 |
| GO:003253522 | Liver | HCC | regulation of cellular component size | 217/7958 | 383/18723 | 1.28e-08 | 3.14e-07 | 217 |
| GO:003227122 | Liver | HCC | regulation of protein polymerization | 141/7958 | 233/18723 | 2.00e-08 | 4.72e-07 | 141 |
| GO:003297022 | Liver | HCC | regulation of actin filament-based process | 222/7958 | 397/18723 | 3.81e-08 | 8.30e-07 | 222 |
| GO:003295622 | Liver | HCC | regulation of actin cytoskeleton organization | 202/7958 | 358/18723 | 6.18e-08 | 1.29e-06 | 202 |
| GO:000815422 | Liver | HCC | actin polymerization or depolymerization | 130/7958 | 218/18723 | 2.31e-07 | 4.14e-06 | 130 |
| GO:003004122 | Liver | HCC | actin filament polymerization | 116/7958 | 191/18723 | 2.66e-07 | 4.68e-06 | 116 |
| GO:011005322 | Liver | HCC | regulation of actin filament organization | 158/7958 | 278/18723 | 9.01e-07 | 1.37e-05 | 158 |
| GO:003083212 | Liver | HCC | regulation of actin filament length | 113/7958 | 189/18723 | 1.16e-06 | 1.71e-05 | 113 |
| GO:003083322 | Liver | HCC | regulation of actin filament polymerization | 104/7958 | 172/18723 | 1.46e-06 | 2.08e-05 | 104 |
| GO:000806412 | Liver | HCC | regulation of actin polymerization or depolymerization | 112/7958 | 188/18723 | 1.65e-06 | 2.31e-05 | 112 |
| Page: 1 2 3 4 5 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| 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 |
| 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 |
| hsa006002 | Oral cavity | OSCC | Sphingolipid metabolism | 33/3704 | 53/8465 | 5.00e-03 | 1.20e-02 | 6.13e-03 | 33 |
| hsa0060011 | Oral cavity | OSCC | Sphingolipid metabolism | 33/3704 | 53/8465 | 5.00e-03 | 1.20e-02 | 6.13e-03 | 33 |
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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 |
| GBA2 | SNV | Missense_Mutation | c.2066N>A | p.Gly689Glu | p.G689E | Q9HCG7 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD | |
| GBA2 | SNV | Missense_Mutation | rs200048828 | c.1352G>A | p.Arg451Gln | p.R451Q | Q9HCG7 | protein_coding | tolerated(0.91) | benign(0) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| GBA2 | SNV | Missense_Mutation | rs754032114 | c.1816G>A | p.Val606Ile | p.V606I | Q9HCG7 | protein_coding | tolerated(0.21) | benign(0.012) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| GBA2 | SNV | Missense_Mutation | novel | c.1732N>G | p.Met578Val | p.M578V | Q9HCG7 | protein_coding | tolerated(0.05) | benign(0.1) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| GBA2 | SNV | Missense_Mutation | c.2495N>C | p.Met832Thr | p.M832T | Q9HCG7 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
| GBA2 | insertion | Frame_Shift_Ins | novel | c.2681_2682insCTGGATCCTCTCTCTTACTTTTCATTCTATTTTTGCAAACG | p.Gln894HisfsTer30 | p.Q894Hfs*30 | Q9HCG7 | protein_coding | TCGA-AO-A03R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
| GBA2 | deletion | Frame_Shift_Del | novel | c.2146delN | p.Ser716LeufsTer45 | p.S716Lfs*45 | Q9HCG7 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| GBA2 | deletion | Frame_Shift_Del | novel | c.849delA | p.Asp284MetfsTer64 | p.D284Mfs*64 | Q9HCG7 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
| GBA2 | SNV | Missense_Mutation | rs146085561 | c.1723N>T | p.Arg575Trp | p.R575W | Q9HCG7 | protein_coding | tolerated(0.1) | possibly_damaging(0.545) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| GBA2 | SNV | Missense_Mutation | c.304N>G | p.Gln102Glu | p.Q102E | Q9HCG7 | protein_coding | tolerated(0.28) | benign(0.01) | TCGA-EK-A2R8-01 | Cervix | cervical & endocervical cancer | 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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