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| TissGeneSummary for GABRD |
 Gene summary |
| Basic gene information | Gene symbol | GABRD |
| Gene name | gamma-aminobutyric acid (GABA) A receptor, delta | |
| Synonyms | EIG10|EJM7|GEFSP5 | |
| Cytomap | UCSC genome browser: 1p36.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000815.4, | |
| Description | GABA(A) receptor subunit deltaGABA(A) receptor, deltaGABA-A receptor, delta polypeptidegamma-aminobutyric acid receptor subunit delta | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 137163 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000187730 | ||
| HPRD : 08842 | ||
| Vega : OTTHUMG00000041064 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GABRD | |
| BioGPS: 2563 | ||
| Pathway | NCI Pathway Interaction Database: GABRD | |
| KEGG: GABRD | ||
| REACTOME: GABRD | ||
| Pathway Commons: GABRD | ||
| Context | iHOP: GABRD | |
| ligand binding site mutation search in PubMed: GABRD | ||
| UCL Cancer Institute: GABRD | ||
| 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 GABRD | ||
| Description by TissGene annotations | Protective TissGene in OS Protective TissGene in RFS | |
| * 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 GABRD |
| 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 |
| PRAD | -2.021457635 | -3.108665327 | 1.087207692 | 1.15E-05 | 6.26E-05 |
| BRCA | 0.456733526 | -2.802112088 | 3.258845614 | 3.81E-54 | 5.73E-52 |
| HNSC | -1.614100032 | -2.870937241 | 1.256837209 | 9.63E-06 | 5.50E-05 |
| LUAD | -0.590355646 | -1.797078059 | 1.206722414 | 1.59E-06 | 5.20E-06 |
| LIHC | 0.947167596 | -3.417210404 | 4.364378 | 6.33E-30 | 4.69E-27 |
| STAD | -0.110616529 | -3.362944654 | 3.252328125 | 5.30E-17 | 3.97E-14 |
| THCA | 1.149740409 | -1.877781625 | 3.027522034 | 2.83E-24 | 3.48E-22 |
| KIRC | 2.456671318 | -3.292307849 | 5.748979167 | 1.52E-55 | 3.41E-53 |
| KICH | -0.164388404 | -3.605340404 | 3.440952 | 1.56E-13 | 2.19E-12 |
| COAD | -0.854465327 | -3.275449943 | 2.420984615 | 1.22E-16 | 1.27E-14 |
| BLCA | -0.794919983 | -2.346077878 | 1.551157895 | 0.00691 | 0.033999646 |
| ESCA | -1.094833859 | -3.979497495 | 2.884663636 | 1.01E-05 | 0.000935933 |
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| TissGene-miRNA for GABRD |
| 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 GABRD |
| TissGeneSNV for GABRD |
| 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.L180M | LUAD | 1 |
| p.A359S | BLCA | 1 |
| p.A278T | KIRP | 1 |
| p.P302A | HNSC | 1 |
| p.R418W | PAAD | 1 |
| p.R298H | UCEC | 1 |
| p.Q273* | SKCM | 1 |
| p.V370F | THYM | 1 |
| p.S364F | CESC | 1 |
| p.T401M | COAD | 1 |
| p.A451T | COAD | 1 |
| p.R56W | KICH | 1 |
| p.P63L | SKCM | 1 |
| p.V312I | PAAD | 1 |
| p.L387M | LUAD | 1 |
| p.T86I | COAD | 1 |
| p.R408H | SARC | 1 |
| p.Y313F | LUSC | 1 |
| p.P350L | STAD | 1 |
| p.R157Q | STAD | 1 |
| p.R145W | BLCA | 1 |
| p.A323V | KIRC | 1 |
| p.A49V | SKCM | 1 |
| p.T289M | CESC | 1 |
| p.P384S | SKCM | 1 |
| p.E175K | CESC | 1 |
| p.A69T | UCEC | 1 |
| p.R382H | COAD | 1 |
| p.D165N | ACC | 1 |
| p.P384L | LUSC | 1 |
| p.T124P | SARC | 1 |
| p.V127M | GBM | 1 |
| p.A304V | UCEC | 1 |
| p.E107K | PRAD | 1 |
| p.S189L | COAD | 1 |
| p.V383I | UVM | 1 |
| p.R382L | ESCA | 1 |
| p.L365I | LGG | 1 |
| p.Y391N | LUAD | 1 |
| p.A438S | LUAD | 1 |
| p.A24T | UCEC | 1 |
| p.R408C | SKCM | 1 |
| p.R96W | STAD | 1 |
| p.E190K | SARC | 1 |
| p.R96Q | LUAD | 1 |
| p.G150D | LGG | 1 |
| p.G205R | LGG | 1 |
| p.A274V | STAD | 1 |
| p.A274V | READ | 1 |
| p.C317* | LUAD | 1 |
| p.A329T | STAD | 1 |
| p.A407D | CESC | 1 |
| p.D30N | HNSC | 1 |
| p.W315C | LUAD | 1 |
| p.S300F | SKCM | 1 |
| p.A433T | UCEC | 1 |
| p.K339N | UCEC | 1 |
| p.V116M | LGG | 1 |
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| TissGeneCNV for GABRD |
| 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 GABRD |
| 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 |
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| TissGeneNet for GABRD |
| 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) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| COAD (tumor) | COAD (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| KICH (tumor) | KICH (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| STAD (tumor) | STAD (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| THCA (tumor) | THCA (normal) |
| GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (tumor) | GABRD, SIRT1, UBQLN1, IL2, UBQLN4 (normal) |
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| TissGeneProg for GABRD |
| 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 GABRD |
| TissGeneDrug for GABRD |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB01587 | Ketazolam | Potentiator | Small molecule | Approved |
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| TissGeneDisease for GABRD |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0014544 | Epilepsy | 5 | BeFree,GAD |
| umls:C0009952 | Febrile Convulsions | 3 | BeFree |
| umls:C3502809 | Generalized Epilepsy with Febrile Seizures Plus | 3 | BeFree |
| umls:C0004352 | Autistic Disorder | 1 | BeFree |
| umls:C0004936 | Mental disorders | 1 | GAD |
| umls:C0014548 | Epilepsy, Generalized | 1 | BeFree |
| umls:C0016667 | Fragile X Syndrome | 1 | BeFree |
| umls:C0036341 | Schizophrenia | 1 | CTD_human |
| umls:C0525045 | Mood Disorders | 1 | BeFree |
| umls:C2751603 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 | 1 | CLINVAR,UNIPROT |
| umls:C0270850 | Idiopathic generalized epilepsy | 0 | CTD_human |
| umls:C0270853 | Myoclonic Epilepsy, Juvenile | 0 | ORPHANET |
| umls:C1842870 | Chromosome 1p36 Deletion Syndrome | 0 | ORPHANET |
| umls:C1858672 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 | 0 | CTD_human |
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