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Gene: GABRB3 |
Gene summary for GABRB3 |
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Gene information | Species | Human | Gene symbol | GABRB3 | Gene ID | 2562 |
Gene name | gamma-aminobutyric acid type A receptor subunit beta3 | |
Gene Alias | DEE43 | |
Cytomap | 15q12 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | P28472 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2562 | GABRB3 | HTA11_696_2000001011 | Human | Colorectum | AD | 8.37e-03 | 9.21e-02 | -0.1464 |
2562 | GABRB3 | HTA11_866_2000001011 | Human | Colorectum | AD | 1.26e-03 | 1.10e-01 | -0.1001 |
2562 | GABRB3 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.30e-03 | 2.49e-01 | -0.059 |
2562 | GABRB3 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.97e-02 | 1.17e-01 | 0.096 |
2562 | GABRB3 | HTA11_6818_2000001021 | Human | Colorectum | AD | 2.54e-04 | 2.11e-01 | 0.0588 |
2562 | GABRB3 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 8.41e-03 | 6.23e-01 | 0.3487 |
2562 | GABRB3 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 3.89e-13 | 3.84e-01 | 0.3859 |
2562 | GABRB3 | P2T-E | Human | Esophagus | ESCC | 9.56e-08 | 1.53e-01 | 0.1177 |
2562 | GABRB3 | P9T-E | Human | Esophagus | ESCC | 2.17e-02 | 1.22e-01 | 0.1131 |
2562 | GABRB3 | P10T-E | Human | Esophagus | ESCC | 7.31e-14 | 2.33e-01 | 0.116 |
2562 | GABRB3 | P16T-E | Human | Esophagus | ESCC | 1.14e-02 | 2.26e-02 | 0.1153 |
2562 | GABRB3 | P22T-E | Human | Esophagus | ESCC | 3.60e-13 | 2.54e-01 | 0.1236 |
2562 | GABRB3 | P39T-E | Human | Esophagus | ESCC | 1.88e-04 | 1.32e-01 | 0.0894 |
2562 | GABRB3 | P49T-E | Human | Esophagus | ESCC | 1.19e-05 | 5.39e-01 | 0.1768 |
2562 | GABRB3 | P76T-E | Human | Esophagus | ESCC | 1.88e-04 | 1.17e-01 | 0.1207 |
2562 | GABRB3 | P79T-E | Human | Esophagus | ESCC | 1.66e-02 | 9.43e-02 | 0.1154 |
2562 | GABRB3 | P83T-E | Human | Esophagus | ESCC | 3.46e-03 | 1.89e-01 | 0.1738 |
2562 | GABRB3 | P127T-E | Human | Esophagus | ESCC | 1.76e-03 | 7.79e-02 | 0.0826 |
2562 | GABRB3 | P128T-E | Human | Esophagus | ESCC | 1.54e-07 | 2.63e-01 | 0.1241 |
2562 | GABRB3 | P130T-E | Human | Esophagus | ESCC | 1.59e-30 | 5.49e-01 | 0.1676 |
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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:0034329 | Colorectum | AD | cell junction assembly | 136/3918 | 420/18723 | 2.02e-08 | 1.15e-06 | 136 |
GO:0050808 | Colorectum | AD | synapse organization | 112/3918 | 426/18723 | 4.25e-03 | 2.92e-02 | 112 |
GO:0015698 | Colorectum | AD | inorganic anion transport | 52/3918 | 180/18723 | 6.83e-03 | 4.22e-02 | 52 |
GO:00343292 | Colorectum | MSS | cell junction assembly | 120/3467 | 420/18723 | 2.51e-07 | 1.07e-05 | 120 |
GO:00508082 | Colorectum | MSS | synapse organization | 101/3467 | 426/18723 | 3.96e-03 | 2.89e-02 | 101 |
GO:003432918 | Esophagus | ESCC | cell junction assembly | 227/8552 | 420/18723 | 3.06e-04 | 1.83e-03 | 227 |
GO:0060021 | Esophagus | ESCC | roof of mouth development | 50/8552 | 85/18723 | 1.00e-02 | 3.42e-02 | 50 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04723 | Colorectum | AD | Retrograde endocannabinoid signaling | 59/2092 | 148/8465 | 2.94e-05 | 2.73e-04 | 1.74e-04 | 59 |
hsa047231 | Colorectum | AD | Retrograde endocannabinoid signaling | 59/2092 | 148/8465 | 2.94e-05 | 2.73e-04 | 1.74e-04 | 59 |
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 |
hsa047236 | Colorectum | MSI-H | Retrograde endocannabinoid signaling | 33/797 | 148/8465 | 1.88e-06 | 3.21e-05 | 2.69e-05 | 33 |
hsa047237 | Colorectum | MSI-H | Retrograde endocannabinoid signaling | 33/797 | 148/8465 | 1.88e-06 | 3.21e-05 | 2.69e-05 | 33 |
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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 |
GABRB3 | insertion | Frame_Shift_Ins | novel | c.253_254insGTGAGATATTCAACAC | p.Thr85SerfsTer16 | p.T85Sfs*16 | P28472 | protein_coding | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
GABRB3 | insertion | Frame_Shift_Ins | novel | c.383_384insA | p.Ser129ValfsTer18 | p.S129Vfs*18 | P28472 | protein_coding | TCGA-D1-A0ZS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
GABRB3 | deletion | Frame_Shift_Del | c.508delN | p.Leu170TrpfsTer66 | p.L170Wfs*66 | P28472 | protein_coding | TCGA-D1-A176-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
GABRB3 | SNV | Missense_Mutation | c.320N>T | p.Thr107Met | p.T107M | P28472 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-DD-AACJ-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
GABRB3 | SNV | Missense_Mutation | novel | c.1004G>T | p.Gly335Val | p.G335V | P28472 | protein_coding | deleterious(0.02) | benign(0.215) | TCGA-05-5425-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Targeted Molecular therapy | gefitinib | PD |
GABRB3 | SNV | Missense_Mutation | rs748359037 | c.763N>G | p.Ile255Val | p.I255V | P28472 | protein_coding | tolerated(0.15) | benign(0.173) | TCGA-38-4631-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GABRB3 | SNV | Missense_Mutation | c.307N>A | p.Pro103Thr | p.P103T | P28472 | protein_coding | tolerated(0.14) | benign(0.038) | TCGA-38-4632-01 | Lung | lung adenocarcinoma | Male | <65 | III/IV | Chemotherapy | gemcitabine | PD | |
GABRB3 | SNV | Missense_Mutation | c.1333N>A | p.Val445Met | p.V445M | P28472 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-49-4486-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
GABRB3 | SNV | Missense_Mutation | c.1352N>T | p.Trp451Leu | p.W451L | P28472 | protein_coding | deleterious(0.01) | possibly_damaging(0.643) | TCGA-49-AAR2-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | taxol | CR | |
GABRB3 | SNV | Missense_Mutation | c.704N>A | p.Leu235Gln | p.L235Q | P28472 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-50-6590-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Chemotherapy | paclitaxel | CR |
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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 |
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | positive modulator | CHEMBL2096631 | CLORAZEPATE DIPOTASSIUM | |
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | CHEMBL591 | ETHCHLORVYNOL | ||
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | PROPOFOL | PROPOFOL | ||
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | positive modulator | CHEMBL1200602 | ||
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | CLORAZEPATE | CLORAZEPIC ACID | ||
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | CLOTIAZEPAM | CLOTIAZEPAM | ||
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | CHEMBL2068724 | ACAMPROSATE CALCIUM | ||
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | positive modulator | CHEMBL450 | METHARBITAL | |
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | CHEMBL1102 | GLUTETHIMIDE | ||
2562 | GABRB3 | ION CHANNEL, DRUGGABLE GENOME | EVT-201 |
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