TissGeneSummary for GABRR1 |
Gene summary |
Basic gene information | Gene symbol | GABRR1 |
Gene name | gamma-aminobutyric acid (GABA) A receptor, rho 1 | |
Synonyms | - | |
Cytomap | UCSC genome browser: 6q15 | |
Type of gene | protein-coding | |
RefGenes | NM_001256703.1, NM_001256704.1,NM_001267582.1,NM_002042.4, | |
Description | GABA(A) receptor subunit rho-1GABA(A) receptor, rho 1GABA(C) receptorbA135P14.1 (gamma-aminobutyric acid (GABA) receptor, rho 1)gamma-aminobutyric acid (GABA) A receptor, rho-1gamma-aminobutyric acid (GABA) receptor, rho 1gamma-aminobutyric acid rec | |
Modification date | 20141207 | |
dbXrefs | MIM : 137161 | |
HGNC : HGNC | ||
Ensembl : ENSG00000146276 | ||
HPRD : 15921 | ||
Vega : OTTHUMG00000015195 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GABRR1 | |
BioGPS: 2569 | ||
Pathway | NCI Pathway Interaction Database: GABRR1 | |
KEGG: GABRR1 | ||
REACTOME: GABRR1 | ||
Pathway Commons: GABRR1 | ||
Context | iHOP: GABRR1 | |
ligand binding site mutation search in PubMed: GABRR1 | ||
UCL Cancer Institute: GABRR1 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | HPA,TiGER | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | LungTestis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LUAD,LUSCTGCT | |
Reference showing the relevant tissue of GABRR1 | ||
Description by TissGene annotations |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID |
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TissGeneExp for GABRR1 |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
LUSC | 0.45562788 | -3.226487806 | 3.682115686 | 9.00E-14 | 4.71E-13 |
STAD | -1.044218934 | -2.826340809 | 1.782121875 | 0.00215 | 0.009613022 |
HNSC | 0.664217985 | -0.591163411 | 1.255381395 | 0.000913 | 0.003131479 |
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TissGene-miRNA for GABRR1 |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for GABRR1 |
TissGeneSNV for GABRR1 |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.I226V | LUAD | 2 |
p.S418F | SKCM | 2 |
p.M431I | BLCA | 1 |
p.R357S | SARC | 1 |
p.G100C | LUSC | 1 |
p.P274H | KIRC | 1 |
p.G216D | LUAD | 1 |
p.R225W | SARC | 1 |
p.P464Q | LUSC | 1 |
p.Q104H | LUAD | 1 |
p.V353A | LIHC | 1 |
p.M120I | CESC | 1 |
p.L410Q | LUAD | 1 |
p.E23K | SKCM | 1 |
p.E198K | SARC | 1 |
p.G417R | KIRC | 1 |
p.Q424E | BLCA | 1 |
p.I43V | LUAD | 1 |
p.Y367C | STAD | 1 |
p.V321I | LGG | 1 |
p.S58T | SKCM | 1 |
p.R425I | READ | 1 |
p.P319R | LUAD | 1 |
p.Y272N | LUAD | 1 |
p.R165C | BRCA | 1 |
p.Y110H | LUAD | 1 |
p.S387R | LUAD | 1 |
p.P139S | SKCM | 1 |
p.D451Y | LUSC | 1 |
p.R279C | PRAD | 1 |
p.D85E | UCEC | 1 |
p.V321F | LUAD | 1 |
p.Y127H | LUAD | 1 |
p.P291H | KIRC | 1 |
p.P48S | SKCM | 1 |
p.A21V | PCPG | 1 |
p.M278I | SKCM | 1 |
p.T259M | READ | 1 |
p.E415X | COAD | 1 |
p.P81S | SKCM | 1 |
p.V365I | STAD | 1 |
p.W283* | SKCM | 1 |
p.T320M | UCEC | 1 |
p.R162W | SARC | 1 |
p.S53L | SKCM | 1 |
p.R148H | PRAD | 1 |
p.D408Y | CESC | 1 |
p.M406I | LUAD | 1 |
p.A275T | SARC | 1 |
p.M448I | BLCA | 1 |
p.P298S | SKCM | 1 |
p.T73K | BLCA | 1 |
p.T121I | SARC | 1 |
p.R320C | COAD | 1 |
p.T56K | BLCA | 1 |
p.T176I | LGG | 1 |
p.Y340C | LIHC | 1 |
p.F118V | STAD | 1 |
p.S317C | BLCA | 1 |
p.R262C | PRAD | 1 |
p.M407T | HNSC | 1 |
p.R225Q | SKCM | 1 |
p.S24C | HNSC | 1 |
p.Q409K | HNSC | 1 |
p.S75T | KIRC | 1 |
p.R261C | BLCA | 1 |
p.T271S | HNSC | 1 |
p.A286T | LAML | 1 |
p.A395V | STAD | 1 |
p.T303M | READ | 1 |
p.M423I | LUAD | 1 |
p.W283X | SKCM | 1 |
p.P336R | LUAD | 1 |
p.S476Y | UCEC | 1 |
p.Q426K | HNSC | 1 |
p.S370R | LUAD | 1 |
p.A275T | LGG | 1 |
p.P319L | COAD | 1 |
p.Q87H | LUAD | 1 |
p.S358* | LUSC | 1 |
p.P436S | STAD | 1 |
p.R46Q | SKCM | 1 |
p.S201R | COAD | 1 |
p.H27R | COAD | 1 |
p.I233L | BLCA | 1 |
p.Y255N | LUAD | 1 |
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TissGeneCNV for GABRR1 |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for GABRR1 |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | FusionScan | SARC | TCGA-DX-A1KZ-01A | PLEKHB2-GABRR1 | 5'UTR-5'UTR | chr2:131862971 | chr6:89910984 |
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TissGeneNet for GABRR1 |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for GABRR1 |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for GABRR1 |
TissGeneDrug for GABRR1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB00231 | Temazepam | Potentiator | Small molecule | Approved |
DB00546 | Adinazolam | Potentiator | Small molecule | Approved |
DB00842 | Oxazepam | Potentiator | Small molecule | Approved |
DB00897 | Triazolam | Potentiator | Small molecule | Approved |
DB01594 | Cinolazepam | Potentiator | Small molecule | Approved |
DB01595 | Nitrazepam | Potentiator | Small molecule | Approved |
DB00683 | Midazolam | Potentiator | Small molecule | Approved|Illicit |
DB00690 | Flurazepam | Potentiator | Small molecule | Approved|Illicit |
DB01215 | Estazolam | Potentiator | Small molecule | Approved|Illicit |
DB01558 | Bromazepam | Potentiator | Small molecule | Approved|Illicit |
DB01559 | Clotiazepam | Potentiator | Small molecule | Approved|Illicit |
DB01567 | Fludiazepam | Potentiator | Small molecule | Approved|Illicit |
DB01588 | Prazepam | Potentiator | Small molecule | Approved|Illicit |
DB01589 | Quazepam | Potentiator | Small molecule | Approved|Illicit |
DB00829 | Diazepam | Potentiator | Small molecule | Approved|Illicit|Vet_approved |
DB00801 | Halazepam | Potentiator | Small molecule | Approved|Illicit|Withdrawn |
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TissGeneDisease for GABRR1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0001973 | Alcoholic Intoxication, Chronic | 1 | BeFree |
umls:C0005586 | Bipolar Disorder | 1 | GAD |
umls:C0036337 | Schizoaffective Disorder | 1 | BeFree |
umls:C0270736 | Essential Tremor | 1 | BeFree |