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Gene: GABRG2 |
Gene summary for GABRG2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | GABRG2 | Gene ID | 2566 |
| Gene name | gamma-aminobutyric acid type A receptor subunit gamma2 | |
| Gene Alias | CAE2 | |
| Cytomap | 5q34 | |
| Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | P18507 |
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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 |
| 2566 | GABRG2 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 3.61e-02 | 1.80e-01 | 0.3859 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal 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. |
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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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00343292 | Colorectum | MSS | cell junction assembly | 120/3467 | 420/18723 | 2.51e-07 | 1.07e-05 | 120 |
| GO:00097912 | Colorectum | MSS | post-embryonic development | 26/3467 | 80/18723 | 1.91e-03 | 1.66e-02 | 26 |
| GO:00508082 | Colorectum | MSS | synapse organization | 101/3467 | 426/18723 | 3.96e-03 | 2.89e-02 | 101 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa047234 | Colorectum | MSS | Retrograde endocannabinoid signaling | 61/1875 | 148/8465 | 1.21e-07 | 1.93e-06 | 1.18e-06 | 61 |
| hsa047235 | Colorectum | MSS | Retrograde endocannabinoid signaling | 61/1875 | 148/8465 | 1.21e-07 | 1.93e-06 | 1.18e-06 | 61 |
| Page: 1 |
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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 |
| GABRG2 | SNV | Missense_Mutation | c.1084G>T | p.Ala362Ser | p.A362S | P18507 | protein_coding | tolerated(0.51) | possibly_damaging(0.713) | TCGA-A8-A0A2-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| GABRG2 | SNV | Missense_Mutation | c.288N>A | p.Met96Ile | p.M96I | P18507 | protein_coding | tolerated(1) | benign(0.01) | TCGA-B6-A0RN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| GABRG2 | SNV | Missense_Mutation | rs768061156 | c.1105G>T | p.Val369Phe | p.V369F | P18507 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EW-A1PE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
| GABRG2 | SNV | Missense_Mutation | c.1031N>A | p.Arg344Lys | p.R344K | P18507 | protein_coding | deleterious(0.01) | possibly_damaging(0.756) | TCGA-S3-A6ZG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR | |
| GABRG2 | SNV | Missense_Mutation | c.1186T>A | p.Leu396Met | p.L396M | P18507 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C5-A7CH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unspecific | SD | ||
| GABRG2 | SNV | Missense_Mutation | c.187G>A | p.Glu63Lys | p.E63K | P18507 | protein_coding | tolerated(0.06) | possibly_damaging(0.516) | TCGA-DS-A0VM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |
| GABRG2 | SNV | Missense_Mutation | c.35N>T | p.Ser12Leu | p.S12L | P18507 | protein_coding | deleterious_low_confidence(0) | benign(0) | TCGA-EK-A2RO-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| GABRG2 | SNV | Missense_Mutation | c.8N>T | p.Ser3Leu | p.S3L | P18507 | protein_coding | deleterious_low_confidence(0.02) | benign(0.006) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| GABRG2 | SNV | Missense_Mutation | c.1121C>T | p.Ala374Val | p.A374V | P18507 | protein_coding | deleterious(0.02) | possibly_damaging(0.866) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| GABRG2 | SNV | Missense_Mutation | c.512G>T | p.Arg171Ile | p.R171I | P18507 | protein_coding | deleterious(0.01) | probably_damaging(0.991) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=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 |
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL1521 | ZALEPLON | |
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | HALAZEPAM | HALAZEPAM | ||
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | GSK683699 | |||
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL1200602 | ||
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | RO-229735 | CHEMBL2170369 | 21751815 | |
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL1200903 | SECOBARBITAL SODIUM | |
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL526 | PROPOFOL | |
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | BROMAZEPAM | BROMAZEPAM | ||
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL738 | THIOPENTAL SODIUM | |
| 2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | RO-4882224 | CHEMBL1077391 | 19762240 |
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