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Gene: GABRB1 |
Gene summary for GABRB1 |
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Gene information | Species | Human | Gene symbol | GABRB1 | Gene ID | 2560 |
Gene name | gamma-aminobutyric acid type A receptor subunit beta1 | |
Gene Alias | DEE45 | |
Cytomap | 4p12 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P18505 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2560 | GABRB1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.63e-08 | 2.73e-01 | 0.0155 |
2560 | GABRB1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.30e-04 | 2.28e-01 | -0.1808 |
2560 | GABRB1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.17e-13 | 5.14e-01 | -0.1954 |
2560 | GABRB1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 2.36e-08 | 4.00e-01 | -0.1207 |
2560 | GABRB1 | HTA11_83_2000001011 | Human | Colorectum | SER | 2.69e-04 | 3.95e-01 | -0.1526 |
2560 | GABRB1 | HTA11_696_2000001011 | Human | Colorectum | AD | 7.31e-08 | 3.51e-01 | -0.1464 |
2560 | GABRB1 | HTA11_866_2000001011 | Human | Colorectum | AD | 9.73e-05 | 1.62e-01 | -0.1001 |
2560 | GABRB1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 5.83e-12 | 5.83e-01 | -0.059 |
2560 | GABRB1 | HTA11_546_2000001011 | Human | Colorectum | AD | 4.35e-03 | 3.27e-01 | -0.0842 |
2560 | GABRB1 | HTA11_866_3004761011 | Human | Colorectum | AD | 5.44e-19 | 7.13e-01 | 0.096 |
2560 | GABRB1 | HTA11_9408_2000001011 | Human | Colorectum | AD | 1.66e-03 | 4.20e-01 | 0.0451 |
2560 | GABRB1 | HTA11_6818_2000001011 | Human | Colorectum | AD | 7.11e-03 | 3.95e-01 | 0.0112 |
2560 | GABRB1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.10e-55 | 1.36e+00 | 0.294 |
2560 | GABRB1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 3.51e-39 | 1.67e+00 | 0.281 |
2560 | GABRB1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 7.41e-55 | 1.49e+00 | 0.3859 |
2560 | GABRB1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 8.36e-21 | 6.20e-01 | 0.3005 |
2560 | GABRB1 | A002-C-010 | Human | Colorectum | FAP | 2.06e-05 | 2.79e-01 | 0.242 |
2560 | GABRB1 | A002-C-021 | Human | Colorectum | FAP | 9.58e-04 | 1.85e-01 | 0.1171 |
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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:0009636 | Colorectum | AD | response to toxic substance | 88/3918 | 262/18723 | 1.12e-06 | 3.72e-05 | 88 |
GO:0048511 | Colorectum | AD | rhythmic process | 94/3918 | 298/18723 | 1.00e-05 | 2.34e-04 | 94 |
GO:0048545 | Colorectum | AD | response to steroid hormone | 104/3918 | 339/18723 | 1.33e-05 | 2.90e-04 | 104 |
GO:1901654 | Colorectum | AD | response to ketone | 59/3918 | 194/18723 | 1.14e-03 | 1.04e-02 | 59 |
GO:0015698 | Colorectum | AD | inorganic anion transport | 52/3918 | 180/18723 | 6.83e-03 | 4.22e-02 | 52 |
GO:00096361 | Colorectum | SER | response to toxic substance | 71/2897 | 262/18723 | 8.63e-07 | 4.07e-05 | 71 |
GO:00485451 | Colorectum | SER | response to steroid hormone | 80/2897 | 339/18723 | 5.15e-05 | 1.25e-03 | 80 |
GO:00485111 | Colorectum | SER | rhythmic process | 65/2897 | 298/18723 | 2.18e-03 | 2.11e-02 | 65 |
GO:19016541 | Colorectum | SER | response to ketone | 44/2897 | 194/18723 | 5.01e-03 | 3.88e-02 | 44 |
GO:00485452 | Colorectum | MSS | response to steroid hormone | 101/3467 | 339/18723 | 2.60e-07 | 1.10e-05 | 101 |
GO:00485112 | Colorectum | MSS | rhythmic process | 89/3467 | 298/18723 | 1.17e-06 | 3.96e-05 | 89 |
GO:19016542 | Colorectum | MSS | response to ketone | 58/3467 | 194/18723 | 7.70e-05 | 1.28e-03 | 58 |
GO:00096362 | Colorectum | MSS | response to toxic substance | 73/3467 | 262/18723 | 1.26e-04 | 1.94e-03 | 73 |
GO:0032570 | Colorectum | MSS | response to progesterone | 14/3467 | 37/18723 | 4.55e-03 | 3.20e-02 | 14 |
GO:00485454 | Colorectum | FAP | response to steroid hormone | 81/2622 | 339/18723 | 6.22e-07 | 3.08e-05 | 81 |
GO:00485113 | Colorectum | FAP | rhythmic process | 72/2622 | 298/18723 | 1.67e-06 | 6.99e-05 | 72 |
GO:19016544 | Colorectum | FAP | response to ketone | 45/2622 | 194/18723 | 3.67e-04 | 4.63e-03 | 45 |
GO:00096363 | Colorectum | FAP | response to toxic substance | 53/2622 | 262/18723 | 3.35e-03 | 2.46e-02 | 53 |
GO:00156981 | Colorectum | FAP | inorganic anion transport | 38/2622 | 180/18723 | 5.73e-03 | 3.67e-02 | 38 |
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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 |
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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 |
GABRB1 | SNV | Missense_Mutation | c.1288N>T | p.Arg430Cys | p.R430C | P18505 | protein_coding | deleterious(0) | probably_damaging(0.938) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD | |
GABRB1 | SNV | Missense_Mutation | c.589G>A | p.Glu197Lys | p.E197K | P18505 | protein_coding | tolerated(0.37) | benign(0.014) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD | |
GABRB1 | SNV | Missense_Mutation | c.791C>T | p.Ser264Phe | p.S264F | P18505 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1JC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD | |
GABRB1 | SNV | Missense_Mutation | c.355N>T | p.Pro119Ser | p.P119S | P18505 | protein_coding | deleterious(0.04) | benign(0.334) | TCGA-D8-A1JG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
GABRB1 | SNV | Missense_Mutation | c.829N>A | p.Ala277Thr | p.A277T | P18505 | protein_coding | tolerated(0.06) | probably_damaging(0.997) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | |
GABRB1 | SNV | Missense_Mutation | c.1255N>T | p.Asp419Tyr | p.D419Y | P18505 | protein_coding | deleterious(0.01) | possibly_damaging(0.671) | TCGA-UC-A7PF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
GABRB1 | SNV | Missense_Mutation | c.1234N>A | p.Glu412Lys | p.E412K | P18505 | protein_coding | tolerated(0.65) | benign(0.094) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
GABRB1 | SNV | Missense_Mutation | rs78133797 | c.1282N>T | p.Arg428Cys | p.R428C | P18505 | protein_coding | deleterious(0) | probably_damaging(0.963) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
GABRB1 | SNV | Missense_Mutation | c.1223T>C | p.Leu408Pro | p.L408P | P18505 | protein_coding | tolerated(0.21) | benign(0.003) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
GABRB1 | SNV | Missense_Mutation | c.542N>T | p.Ser181Ile | p.S181I | P18505 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | 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 |
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | HALAZEPAM | HALAZEPAM | ||
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | ALPRAZOLAM | ALPRAZOLAM | ||
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | positive modulator | CHEMBL1256 | ISOFLURANE | |
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | PRAZEPAM | PRAZEPAM | ||
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | positive modulator | CHEMBL1200472 | QUAZEPAM | |
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | positive modulator | CHEMBL1200703 | CHLORDIAZEPOXIDE HYDROCHLORIDE | |
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | ALPRAZOLAM | ALPRAZOLAM | ||
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | CHEMBL1341 | METHOXYFLURANE | ||
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | agonist | CHEMBL312443 | GABOXADOL | |
2560 | GABRB1 | ION CHANNEL, DRUGGABLE GENOME | FLUDIAZEPAM | FLUDIAZEPAM |
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