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| TissGeneSummary for GABRA5 |
 Gene summary |
| Basic gene information | Gene symbol | GABRA5 |
| Gene name | gamma-aminobutyric acid (GABA) A receptor, alpha 5 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 15q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000810.3, NM_001165037.1, | |
| Description | GABA(A) receptor subunit alpha-5gamma-aminobutyric acid receptor subunit alpha-5 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 137142 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000186297 | ||
| HPRD : 08840 | ||
| Vega : OTTHUMG00000171824 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GABRA5 | |
| BioGPS: 2558 | ||
| Pathway | NCI Pathway Interaction Database: GABRA5 | |
| KEGG: GABRA5 | ||
| REACTOME: GABRA5 | ||
| Pathway Commons: GABRA5 | ||
| Context | iHOP: GABRA5 | |
| ligand binding site mutation search in PubMed: GABRA5 | ||
| UCL Cancer Institute: GABRA5 | ||
| 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) | Brain | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | GBM,LGG | |
| Reference showing the relevant tissue of GABRA5 | ||
| Description by TissGene annotations | Fused withTSGene Fused withOncogene | |
| * 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 GABRA5 |
| 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) |
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| 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) |
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| 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. |
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| 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) |
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| - 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 | 0.409029983 | -1.637513154 | 2.046543137 | 2.65E-06 | 6.36E-06 |
| KICH | -1.429035115 | -0.284967115 | -1.144068 | 0.00242 | 0.004879854 |
| STAD | -0.71989949 | 1.893447385 | -2.613346875 | 9.72E-06 | 0.000112798 |
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| TissGene-miRNA for GABRA5 |
| 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 GABRA5 |
| TissGeneSNV for GABRA5 |
| 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. |
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| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.F433S | UCEC | 1 |
| p.V98A | READ | 1 |
| p.T231M | BLCA | 1 |
| p.M22T | GBM | 1 |
| p.T234N | LUAD | 1 |
| p.E414K | STAD | 1 |
| p.A459T | SARC | 1 |
| p.R108S | STAD | 1 |
| p.A459T | UCEC | 1 |
| p.K346N | HNSC | 1 |
| p.P312S | UCEC | 1 |
| p.E243K | UCEC | 1 |
| p.Y419X | ESCA | 1 |
| p.A143P | LUSC | 1 |
| p.G113W | LUAD | 1 |
| p.D44V | COAD | 1 |
| p.K105N | ESCA | 1 |
| p.Y244C | UCEC | 1 |
| p.E284D | LUAD | 1 |
| p.A459T | CESC | 1 |
| p.M92I | SKCM | 1 |
| p.D97V | OV | 1 |
| p.S26G | PAAD | 1 |
| p.Y60* | LUSC | 1 |
| p.V202I | UCEC | 1 |
| p.D132E | LUAD | 1 |
| p.Q230K | LUAD | 1 |
| p.P66T | LIHC | 1 |
| p.M382V | BLCA | 1 |
| p.T397M | PRAD | 1 |
| p.A319V | UCEC | 1 |
| p.V202I | LUSC | 1 |
| p.M92I | COAD | 1 |
| p.Q224L | DLBC | 1 |
| p.R430Q | COAD | 1 |
| p.R255M | PAAD | 1 |
| p.G353D | COAD | 1 |
| p.P119S | SKCM | 1 |
| p.L436W | SKCM | 1 |
| p.P434S | BLCA | 1 |
| p.P287Q | LUAD | 1 |
| p.S36C | LUAD | 1 |
| p.R117C | LUAD | 1 |
| p.H185Q | HNSC | 1 |
| p.R154Q | LGG | 1 |
| p.K365R | THYM | 1 |
| p.R117C | UCEC | 1 |
| p.N14I | BRCA | 1 |
| p.L56R | LUAD | 1 |
| p.L24V | STAD | 1 |
| p.K381R | ESCA | 1 |
| p.R283G | LUAD | 1 |
| p.R71S | LUAD | 1 |
| p.G438D | GBM | 1 |
| p.G348D | SKCM | 1 |
| p.P66L | READ | 1 |
| p.A334V | UCEC | 1 |
| p.E414K | HNSC | 1 |
| p.R117C | STAD | 1 |
| p.R117H | COAD | 1 |
| p.E337Q | BLCA | 1 |
| p.V201F | COAD | 1 |
| p.P131T | LUAD | 1 |
| p.E217Q | SARC | 1 |
| p.L124F | SKCM | 1 |
| p.W322X | PAAD | 1 |
| p.S275* | HNSC | 1 |
| p.E107* | LUAD | 1 |
| p.A184E | LUAD | 1 |
| p.V403F | COAD | 1 |
| p.W104X | COAD | 1 |
| p.L124I | LIHC | 1 |
| p.L57* | LUAD | 1 |
| p.R65W | COAD | 1 |
| p.K354R | LUAD | 1 |
| p.P66T | KIRC | 1 |
| p.G138R | COAD | 1 |
| p.T301M | COAD | 1 |
| p.W322* | PAAD | 1 |
| p.V443F | LUSC | 1 |
| p.R154W | STAD | 1 |
| p.R110Q | COAD | 1 |
| p.E172* | HNSC | 1 |
| p.Y419* | ESCA | 1 |
| p.N23D | STAD | 1 |
| p.G348D | LUSC | 1 |
| p.T90M | COAD | 1 |
| p.R110Q | PAAD | 1 |
| p.G380E | SKCM | 1 |
| p.V202I | LUAD | 1 |
| p.P181L | LUAD | 1 |
| p.W351C | LUAD | 1 |
| p.I72M | LUAD | 1 |
| p.S126R | KIRC | 1 |
| p.G348D | PRAD | 1 |
| p.P34S | BLCA | 1 |
| p.M270I | LUSC | 1 |
| p.T301M | READ | 1 |
| p.F18V | LIHC | 1 |
| p.R71H | PAAD | 1 |
| p.T393I | SKCM | 1 |
| p.M270I | BRCA | 1 |
| p.S170C | LUAD | 1 |
| p.Y196C | STAD | 1 |
| p.A184V | COAD | 1 |
| p.Q276H | LUAD | 1 |
| p.T95N | GBM | 1 |
| p.I20N | LIHC | 1 |
| p.D44Y | LUAD | 1 |
| p.S304R | UCEC | 1 |
| p.V326M | SARC | 1 |
| p.Q224K | LUAD | 1 |
| p.D158N | STAD | 1 |
| p.R430L | ESCA | 1 |
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| TissGeneCNV for GABRA5 |
| 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 GABRA5 |
| 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 | TopHat-Fusion | ACC | TCGA-OR-A5JY-01A | GABRA5-NOV | CDS-5'UTR | chr15:27114480 | chr8:120428625 |
| TCGAfusionPortal | PRADA | BLCA | TCGA-GD-A2C5-01A | NEDD4-GABRA5 | CDS-5UTR | Chr15:56285709 | Chr15:27113876 |
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| TissGeneNet for GABRA5 |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| COAD (tumor) | COAD (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| HNSC (tumor) | HNSC (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| KICH (tumor) | KICH (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| KIRC (tumor) | KIRC (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| KIRP (tumor) | KIRP (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| LIHC (tumor) | LIHC (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| LUAD (tumor) | LUAD (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| LUSC (tumor) | LUSC (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| PRAD (tumor) | PRAD (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| STAD (tumor) | STAD (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| THCA (tumor) | THCA (normal) |
| GABRA5, UBC (tumor) | GABRA5, UBC (normal) |
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| TissGeneProg for GABRA5 |
| 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. |
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| 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. |
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| 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. |
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| 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 GABRA5 |
| TissGeneDrug for GABRA5 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00402 | Eszopiclone | Agonist | Small molecule | Approved |
| DB01198 | Zopiclone | Potentiator | Small molecule | Approved |
| DB01205 | Flumazenil | Antagonist | Small molecule | Approved |
| DB00371 | Meprobamate | Agonist | Small molecule | Approved|Illicit |
| DB01544 | Flunitrazepam | Potentiator | Small molecule | Approved|Illicit |
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| TissGeneDisease for GABRA5 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0005586 | Bipolar Disorder | 7 | BeFree,GAD,LHGDN |
| umls:C0004352 | Autistic Disorder | 5 | BeFree,CTD_human,GAD,LHGDN |
| umls:C0032897 | Prader-Willi Syndrome | 3 | BeFree |
| umls:C0036341 | Schizophrenia | 3 | BeFree,GAD |
| umls:C0014553 | Absence Epilepsy | 2 | BeFree |
| umls:C1839839 | MAJOR AFFECTIVE DISORDER 2 | 2 | BeFree |
| umls:C1852197 | MAJOR AFFECTIVE DISORDER 1 | 2 | BeFree |
| umls:C1970943 | MAJOR AFFECTIVE DISORDER 4 | 2 | BeFree |
| umls:C1970944 | MAJOR AFFECTIVE DISORDER 5 | 2 | BeFree |
| umls:C1970945 | MAJOR AFFECTIVE DISORDER 6 | 2 | BeFree |
| umls:C2700438 | MAJOR AFFECTIVE DISORDER 7 | 2 | BeFree |
| umls:C2700439 | MAJOR AFFECTIVE DISORDER 8 | 2 | BeFree |
| umls:C2700440 | MAJOR AFFECTIVE DISORDER 9 | 2 | BeFree |
| umls:C0001973 | Alcoholic Intoxication, Chronic | 1 | BeFree |
| umls:C0008925 | Cleft Palate | 1 | BeFree |
| umls:C0014544 | Epilepsy | 1 | GAD |
| umls:C0025149 | Medulloblastoma | 1 | BeFree |
| umls:C0025261 | Memory Disorders | 1 | CTD_human |
| umls:C0030319 | Panic Disorder | 1 | BeFree |
| umls:C0036572 | Seizures | 1 | CTD_human |
| umls:C0041696 | Unipolar Depression | 1 | GAD |
| umls:C0154723 | Migraine with Aura | 1 | GAD |
| umls:C0162635 | Angelman Syndrome | 1 | BeFree |
| umls:C1269683 | Major Depressive Disorder | 1 | GAD |
| umls:C1868649 | PANIC DISORDER 1 | 1 | BeFree |
| umls:C3711376 | Isodicentric Chromosome 15 Syndrome | 1 | CTD_human |
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