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Gene: GBA |
Gene summary for GBA |
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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 |
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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 |
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∗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:0071496111 | Esophagus | ESCC | cellular response to external stimulus | 215/8552 | 320/18723 | 4.29e-15 | 2.43e-13 | 215 |
GO:1903364111 | Esophagus | ESCC | positive regulation of cellular protein catabolic process | 117/8552 | 155/18723 | 3.25e-14 | 1.66e-12 | 117 |
GO:1901800110 | Esophagus | ESCC | positive regulation of proteasomal protein catabolic process | 91/8552 | 114/18723 | 6.74e-14 | 3.34e-12 | 91 |
GO:0031668111 | Esophagus | ESCC | cellular response to extracellular stimulus | 168/8552 | 246/18723 | 4.93e-13 | 2.23e-11 | 168 |
GO:1903052110 | Esophagus | ESCC | positive regulation of proteolysis involved in cellular protein catabolic process | 101/8552 | 133/18723 | 9.58e-13 | 4.19e-11 | 101 |
GO:0022904110 | Esophagus | ESCC | respiratory electron transport chain | 89/8552 | 114/18723 | 1.36e-12 | 5.80e-11 | 89 |
GO:190300816 | Esophagus | ESCC | organelle disassembly | 89/8552 | 114/18723 | 1.36e-12 | 5.80e-11 | 89 |
GO:0010563111 | Esophagus | ESCC | negative regulation of phosphorus metabolic process | 274/8552 | 442/18723 | 2.32e-12 | 9.41e-11 | 274 |
GO:0045936111 | Esophagus | ESCC | negative regulation of phosphate metabolic process | 273/8552 | 441/18723 | 3.18e-12 | 1.25e-10 | 273 |
GO:0031669110 | Esophagus | ESCC | cellular response to nutrient levels | 148/8552 | 215/18723 | 4.58e-12 | 1.76e-10 | 148 |
GO:0031667111 | Esophagus | ESCC | response to nutrient levels | 289/8552 | 474/18723 | 9.25e-12 | 3.47e-10 | 289 |
GO:000703314 | Esophagus | ESCC | vacuole organization | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:0051348111 | Esophagus | ESCC | negative regulation of transferase activity | 177/8552 | 268/18723 | 1.08e-11 | 4.00e-10 | 177 |
GO:007190016 | Esophagus | ESCC | regulation of protein serine/threonine kinase activity | 227/8552 | 359/18723 | 1.12e-11 | 4.10e-10 | 227 |
GO:0032436111 | Esophagus | ESCC | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 72/8552 | 90/18723 | 2.30e-11 | 7.87e-10 | 72 |
GO:003298416 | Esophagus | ESCC | protein-containing complex disassembly | 151/8552 | 224/18723 | 3.45e-11 | 1.15e-09 | 151 |
GO:001624114 | Esophagus | ESCC | regulation of macroautophagy | 102/8552 | 141/18723 | 1.09e-10 | 3.27e-09 | 102 |
GO:0042326111 | Esophagus | ESCC | negative regulation of phosphorylation | 237/8552 | 385/18723 | 1.86e-10 | 5.33e-09 | 237 |
GO:2000060111 | Esophagus | ESCC | positive regulation of ubiquitin-dependent protein catabolic process | 81/8552 | 107/18723 | 2.23e-10 | 6.34e-09 | 81 |
GO:0009267110 | Esophagus | ESCC | cellular response to starvation | 110/8552 | 156/18723 | 2.63e-10 | 7.37e-09 | 110 |
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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 |
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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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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. |
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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 |
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 |
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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 |
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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