TissGeneSummary for GABRA1 |
Gene summary |
Basic gene information | Gene symbol | GABRA1 |
Gene name | gamma-aminobutyric acid (GABA) A receptor, alpha 1 | |
Synonyms | ECA4|EIEE19|EJM|EJM5 | |
Cytomap | UCSC genome browser: 5q34 | |
Type of gene | protein-coding | |
RefGenes | NM_000806.5, NM_001127643.1,NM_001127644.1,NM_001127645.1,NM_001127648.1, NM_001127646.1,NM_001127647.1, | |
Description | GABA(A) receptor subunit alpha-1GABA(A) receptor, alpha 1gamma-aminobutyric acid receptor subunit alpha-1 | |
Modification date | 20141222 | |
dbXrefs | MIM : 137160 | |
HGNC : HGNC | ||
Ensembl : ENSG00000022355 | ||
HPRD : 00662 | ||
Vega : OTTHUMG00000163586 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GABRA1 | |
BioGPS: 2554 | ||
Pathway | NCI Pathway Interaction Database: GABRA1 | |
KEGG: GABRA1 | ||
REACTOME: GABRA1 | ||
Pathway Commons: GABRA1 | ||
Context | iHOP: GABRA1 | |
ligand binding site mutation search in PubMed: GABRA1 | ||
UCL Cancer Institute: GABRA1 | ||
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 GABRA1 | ||
Description by TissGene annotations | Have significant anti-correlated miRNA |
* 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 GABRA1 |
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 |
ESCA | -2.717978166 | -0.594369075 | -2.123609091 | 0.00371 | 0.03300416 |
STAD | -2.491442939 | -1.266399189 | -1.22504375 | 0.000191 | 0.001334034 |
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TissGene-miRNA for GABRA1 |
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 |
UCS | hsa-miR-148a-3p | MIMAT0000243 | 0.03 | -0.29 | 56 |
ACC | hsa-miR-181a-5p | MIMAT0000256 | 0.0058 | -0.32 | 78 |
ACC | hsa-miR-181a-5p | MIMAT0000256 | 0.0058 | -0.32 | 78 |
ACC | hsa-miR-129-2-3p | MIMAT0004605 | 0.0022 | -0.35 | 78 |
ACC | hsa-miR-129-2-3p | MIMAT0004605 | 0.0022 | -0.35 | 78 |
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TissGeneMut for GABRA1 |
TissGeneSNV for GABRA1 |
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.E403K | SKCM | 3 |
p.R94C | SKCM | 2 |
p.G185E | SKCM | 2 |
p.E396K | SKCM | 2 |
p.A318V | STAD | 1 |
p.Y368X | STAD | 1 |
p.K410M | STAD | 1 |
p.I72N | LIHC | 1 |
p.K358N | READ | 1 |
p.S186G | SKCM | 1 |
p.I395M | BLCA | 1 |
p.S392C | COAD | 1 |
p.L18P | STAD | 1 |
p.N143K | ESCA | 1 |
p.S8P | TGCT | 1 |
p.R282K | READ | 1 |
p.Q269* | LUAD | 1 |
p.C320W | ACC | 1 |
p.Y258* | ESCA | 1 |
p.K355N | STAD | 1 |
p.K183N | BLCA | 1 |
p.A380P | LGG | 1 |
p.R24I | HNSC | 1 |
p.K103N | STAD | 1 |
p.D359N | HNSC | 1 |
p.T367N | LGG | 1 |
p.V208L | LUAD | 1 |
p.T404A | LUAD | 1 |
p.M139I | STAD | 1 |
p.R24G | ESCA | 1 |
p.F93L | SKCM | 1 |
p.I266N | LUAD | 1 |
p.P428L | LGG | 1 |
p.F173V | HNSC | 1 |
p.A312V | SKCM | 1 |
p.H129Y | SKCM | 1 |
p.D420Y | LUAD | 1 |
p.P397L | SKCM | 1 |
p.H129Q | LUAD | 1 |
p.E171* | STAD | 1 |
p.A451S | LUAD | 1 |
p.S186R | SKCM | 1 |
p.R421* | UCEC | 1 |
p.D82Y | COAD | 1 |
p.K3X | KIRC | 1 |
p.V400D | SKCM | 1 |
p.A164T | HNSC | 1 |
p.L220P | SARC | 1 |
p.E197K | SKCM | 1 |
p.P351Q | HNSC | 1 |
p.I266F | STAD | 1 |
p.V270A | GBM | 1 |
p.M108V | LUAD | 1 |
p.V41I | BRCA | 1 |
p.E403K | GBM | 1 |
p.R56C | CESC | 1 |
p.N275K | LUSC | 1 |
p.T376N | LIHC | 1 |
p.R64C | UCEC | 1 |
p.P142T | LUAD | 1 |
p.R248G | STAD | 1 |
p.E100K | SKCM | 1 |
p.F325L | BLCA | 1 |
p.R248K | SKCM | 1 |
p.M108T | COAD | 1 |
p.T376P | SKCM | 1 |
p.P370L | SKCM | 1 |
p.D359N | SKCM | 1 |
p.H83Y | SKCM | 1 |
p.E352K | HNSC | 1 |
p.L267I | UCEC | 1 |
p.R421Q | STAD | 1 |
p.W439L | LUAD | 1 |
p.S271F | SKCM | 1 |
p.P452T | LUAD | 1 |
p.E67K | ESCA | 1 |
p.L259Q | DLBC | 1 |
p.L436I | OV | 1 |
p.L267I | BLCA | 1 |
p.K120N | UCEC | 1 |
p.M108L | HNSC | 1 |
p.L145R | COAD | 1 |
p.R2W | LUSC | 1 |
p.S326* | LUAD | 1 |
p.C180G | MESO | 1 |
p.P360R | LUSC | 1 |
p.A440S | LUAD | 1 |
p.S19N | SKCM | 1 |
p.E210K | STAD | 1 |
p.R421* | HNSC | 1 |
p.N435T | BLCA | 1 |
p.K103R | ESCA | 1 |
p.K120T | UCEC | 1 |
p.A179G | OV | 1 |
p.P384Q | HNSC | 1 |
p.R282I | UCEC | 1 |
p.R421* | GBM | 1 |
p.V207G | BLCA | 1 |
p.F413I | SKCM | 1 |
p.G131E | SKCM | 1 |
p.G185* | UCEC | 1 |
p.E193* | UCEC | 1 |
p.A369G | LUAD | 1 |
p.K401R | STAD | 1 |
p.R94C | BLCA | 1 |
p.Y258X | ESCA | 1 |
p.G106V | LUAD | 1 |
p.W273X | STAD | 1 |
p.D176Y | HNSC | 1 |
p.E403K | STAD | 1 |
p.L429M | HNSC | 1 |
p.R214S | BRCA | 1 |
p.G235A | LIHC | 1 |
p.R248I | UCEC | 1 |
p.A177T | UCEC | 1 |
p.L267I | STAD | 1 |
p.I262T | STAD | 1 |
p.Q256* | UCEC | 1 |
p.S271F | LIHC | 1 |
p.R94L | LUSC | 1 |
p.D314N | SKCM | 1 |
p.Q217* | SKCM | 1 |
p.P280T | BLCA | 1 |
p.W97* | GBM | 1 |
p.D125N | DLBC | 1 |
p.I148F | ESCA | 1 |
p.D33Y | HNSC | 1 |
p.R94H | BLCA | 1 |
p.L11H | ACC | 1 |
p.K105* | LUSC | 1 |
p.F244S | UCEC | 1 |
p.A310V | LGG | 1 |
p.K418N | COAD | 1 |
p.L221I | COAD | 1 |
p.S326A | BLCA | 1 |
p.D420Y | CHOL | 1 |
p.R147L | BLCA | 1 |
p.R248S | COAD | 1 |
p.L182Q | LUAD | 1 |
p.D219Y | COAD | 1 |
p.G432E | SKCM | 1 |
p.N143K | GBM | 1 |
p.P370Q | LIHC | 1 |
p.F427L | LUAD | 1 |
p.Q217X | SKCM | 1 |
p.A281S | LUAD | 1 |
p.P370T | LIHC | 1 |
p.V334E | BLCA | 1 |
p.P174S | SKCM | 1 |
p.E201* | UCEC | 1 |
p.E396K | LGG | 1 |
p.A451V | LUSC | 1 |
p.G78V | STAD | 1 |
p.R56S | LUAD | 1 |
p.T295S | LUSC | 1 |
p.D383A | STAD | 1 |
p.S348G | STAD | 1 |
p.W273* | STAD | 1 |
p.T376S | UCEC | 1 |
p.Y156F | LUAD | 1 |
p.P384L | GBM | 1 |
p.A318V | COAD | 1 |
p.L111F | SKCM | 1 |
p.K405I | LGG | 1 |
p.Y368* | STAD | 1 |
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TissGeneCNV for GABRA1 |
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 GABRA1 |
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 |
TCGAfusionPortal | PRADA | LUSC | TCGA-66-2782-01A | CISD1-GABRA1 | In-frame | Chr10:60029064 | Chr5:161322672 |
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TissGeneNet for GABRA1 |
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 GABRA1 |
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 GABRA1 |
TissGeneDrug for GABRA1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB00273 | Topiramate | Agonist | Small molecule | Approved |
DB00292 | Etomidate | Agonist | Small molecule | Approved |
DB00425 | Zolpidem | Potentiator | Small molecule | Approved |
DB00474 | Methohexital | Antagonist | Small molecule | Approved |
DB01346 | Quinidine barbiturate | Potentiator | Small molecule | Approved |
DB01437 | Glutethimide | Agonist | Small molecule | Approved|Illicit |
DB00962 | Zaleplon | Potentiator | Small molecule | Approved|Illicit|Investigational |
DB01107 | Methyprylon | Agonist | Small molecule | Approved|Illicit|Withdrawn |
DB00837 | Progabide | Agonist | Small molecule | Approved|Investigational |
DB01381 | Ginkgo biloba | Negative modulator | Small molecule | Approved|Nutraceutical |
DB01154 | Thiamylal | Agonist | Small molecule | Approved|Vet_approved |
DB01159 | Halothane | Other/unknown | Small molecule | Approved|Vet_approved |
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TissGeneDisease for GABRA1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0014544 | Epilepsy | 9 | BeFree,GAD |
umls:C0270853 | Myoclonic Epilepsy, Juvenile | 6 | BeFree,CTD_human,GAD,LHGDN,ORPHANET |
umls:C0001973 | Alcoholic Intoxication, Chronic | 5 | BeFree,GAD |
umls:C0036341 | Schizophrenia | 5 | BeFree,GAD |
umls:C0525045 | Mood Disorders | 4 | BeFree,GAD |
umls:C0036572 | Seizures | 3 | BeFree,GAD |
umls:C0270736 | Essential Tremor | 3 | BeFree,CTD_human,GAD |
umls:C0270850 | Idiopathic generalized epilepsy | 3 | BeFree |
umls:C0004352 | Autistic Disorder | 2 | CTD_human,GAD |
umls:C0005586 | Bipolar Disorder | 2 | BeFree,GAD |
umls:C0014553 | Absence Epilepsy | 2 | BeFree |
umls:C0019151 | Hepatic Encephalopathy | 2 | BeFree,CTD_human,RGD |
umls:C0033975 | Psychotic Disorders | 2 | BeFree |
umls:C0085762 | Alcohol abuse | 2 | GAD |
umls:C0751122 | Infantile Severe Myoclonic Epilepsy | 2 | BeFree |
umls:C4013473 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | 2 | MGD,UNIPROT |
umls:C0004134 | Ataxia | 1 | CTD_human |
umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
umls:C0013146 | Drug abuse | 1 | BeFree |
umls:C0017636 | Glioblastoma | 1 | BeFree |
umls:C0023891 | Liver Cirrhosis, Alcoholic | 1 | GAD |
umls:C0029927 | Ovarian Cysts | 1 | CTD_human |
umls:C0220669 | Familial benign neonatal epilepsy | 1 | BeFree |
umls:C0234376 | Action Tremor | 1 | BeFree |
umls:C0238111 | Lennox-Gastaut syndrome | 1 | BeFree |
umls:C0239981 | Hypoalbuminemia | 1 | BeFree |
umls:C0349204 | Nonorganic psychosis | 1 | BeFree |
umls:C0393593 | Dystonia Disorders | 1 | GAD,LHGDN |
umls:C0600241 | Heroin Abuse | 1 | GAD |
umls:C0699790 | Colon Carcinoma | 1 | BeFree |
umls:C1269683 | Major Depressive Disorder | 1 | GAD |
umls:C1527249 | Colorectal Cancer | 1 | BeFree |
umls:C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
umls:C3810400 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 | 1 | CLINVAR,UNIPROT |
umls:C1970160 | Epilepsy, Childhood Absence, Susceptibility To, 4 | 0 | CLINVAR |
umls:C2749942 | EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 (disorder) | 0 | CLINVAR |