TissGeneSummary for ABAT |
Gene summary |
Basic gene information | Gene symbol | ABAT |
Gene name | 4-aminobutyrate aminotransferase | |
Synonyms | GABA-AT|GABAT|NPD009 | |
Cytomap | UCSC genome browser: 16p13.2 | |
Type of gene | protein-coding | |
RefGenes | NM_000663.4, NM_001127448.1,NM_020686.5, | |
Description | (S)-3-amino-2-methylpropionate transaminase4-aminobutyrate aminotransferase, mitochondrial4-aminobutyrate transaminaseGABA aminotransferaseGABA transaminaseGABA transferasegamma-amino-N-butyrate transaminase | |
Modification date | 20141207 | |
dbXrefs | MIM : 137150 | |
HGNC : HGNC | ||
Ensembl : ENSG00000183044 | ||
HPRD : 00661 | ||
Vega : OTTHUMG00000048201 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ABAT | |
BioGPS: 18 | ||
Pathway | NCI Pathway Interaction Database: ABAT | |
KEGG: ABAT | ||
REACTOME: ABAT | ||
Pathway Commons: ABAT | ||
Context | iHOP: ABAT | |
ligand binding site mutation search in PubMed: ABAT | ||
UCL Cancer Institute: ABAT | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
Reference showing the relevant tissue of ABAT | ||
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 ABAT |
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 |
KICH | -0.108447165 | 3.056216835 | -3.164664 | 1.26E-09 | 7.71E-09 |
KIRC | 1.195971668 | 3.624131391 | -2.428159722 | 7.11E-16 | 3.82E-15 |
LIHC | 4.945248835 | 6.856066835 | -1.910818 | 1.94E-10 | 2.45E-09 |
KIRP | 2.02637271 | 4.258844585 | -2.232471875 | 4.72E-06 | 2.08E-05 |
STAD | 0.66787271 | 1.86391021 | -1.1960375 | 0.000643 | 0.003698483 |
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TissGene-miRNA for ABAT |
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 |
LUAD | hsa-miR-429 | MIMAT0001536 | 0.0066 | -0.35 | 60 |
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TissGeneMut for ABAT |
TissGeneSNV for ABAT |
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.E195K | BRCA | 1 |
p.K452N | SARC | 1 |
p.M360I | BRCA | 1 |
p.T477A | UCEC | 1 |
p.N200Y | LIHC | 1 |
p.T286M | STAD | 1 |
p.G90C | KIRP | 1 |
p.K413E | SKCM | 1 |
p.M155I | UCEC | 1 |
p.E261Q | BLCA | 1 |
p.F73L | READ | 1 |
p.D307N | SKCM | 1 |
p.M4R | PAAD | 1 |
p.P349L | LUSC | 1 |
p.M214I | SKCM | 1 |
p.R310W | UCEC | 1 |
p.D207Y | LUAD | 1 |
p.M4V | BRCA | 1 |
p.R92Q | KIRC | 1 |
p.R92Q | COAD | 1 |
p.R436Q | HNSC | 1 |
p.D275G | LIHC | 1 |
p.P51L | SKCM | 1 |
p.D403N | SKCM | 1 |
p.R377L | LUSC | 1 |
p.E256K | BLCA | 1 |
p.R180_splice | UCEC | 1 |
p.R180Q | UCEC | 1 |
p.N302S | LIHC | 1 |
p.A162S | COAD | 1 |
p.A304T | STAD | 1 |
p.L211F | SKCM | 1 |
p.A408V | THYM | 1 |
p.R436* | UCEC | 1 |
p.A171T | COAD | 1 |
p.G466S | THCA | 1 |
p.R310W | LUAD | 1 |
p.M46I | SKCM | 1 |
p.L455V | UCEC | 1 |
p.R436Q | SKCM | 1 |
p.N373I | SKCM | 1 |
p.F365L | LUAD | 1 |
p.P152S | SKCM | 1 |
p.W178* | SKCM | 1 |
p.P239S | SKCM | 1 |
p.E265* | LUSC | 1 |
p.D36N | SKCM | 1 |
p.E192K | HNSC | 1 |
p.D306N | HNSC | 1 |
p.H410L | LUAD | 1 |
p.R310W | SKCM | 1 |
p.D482N | HNSC | 1 |
p.T330I | LGG | 1 |
p.V352L | LUAD | 1 |
p.S509* | HNSC | 1 |
p.E69* | LUAD | 1 |
p.R180Q | STAD | 1 |
p.P129S | LGG | 1 |
p.P12S | SKCM | 1 |
p.D385N | SKCM | 1 |
p.S240F | HNSC | 1 |
p.G215S | LUAD | 1 |
p.S212F | SKCM | 1 |
p.S212Y | SKCM | 1 |
p.D242V | UCEC | 1 |
p.R281W | SKCM | 1 |
p.S441F | SKCM | 1 |
p.D443N | SKCM | 1 |
p.V352M | UCEC | 1 |
p.G501E | SKCM | 1 |
p.P152L | SKCM | 1 |
p.P254L | SKCM | 1 |
p.G331* | LUAD | 1 |
p.M59I | LUAD | 1 |
p.A171T | LGG | 1 |
p.L113V | HNSC | 1 |
p.D207N | COAD | 1 |
p.K260Q | UCEC | 1 |
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TissGeneCNV for ABAT |
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 ABAT |
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 | ChiTaRs | NA | BF944944 | EDIL3-ABAT | chr5:83449119 | chr16:8835173 | |
Chimerdb3.0 | ChiTaRs | NA | AA002171 | LDLR-ABAT | chr19:11244491 | chr16:8877665 | |
Chimerdb3.0 | ChiTaRs | NA | BF064196 | ABAT-PSMD12 | chr16:8865922 | chr17:65351510 | |
Chimerdb3.0 | FusionScan | LGG | TCGA-CS-5397-01A | RUSC2-ABAT | 5'UTR-CDS | chr9:35490169 | chr16:8857925 |
Chimerdb3.0 | FusionScan | BRCA | TCGA-AR-A0TX-01A | ABAT-C16orf62 | 5'UTR-CDS | chr16:8768568 | chr16:19663297 |
TCGAfusionPortal | PRADA | BRCA | TCGA-AR-A0TX-01A | ABAT-C16orf62 | 5UTR-CDS | Chr16:8768568 | Chr16:19663298 |
TCGAfusionPortal | PRADA | LGG | TCGA-CS-5397-01A | ABAT-KIAA0430 | 5UTR-CDS | Chr16:8768568 | Chr16:15706634 |
TCGAfusionPortal | PRADA | LGG | TCGA-CS-5397-01A | RUSC2-ABAT | 5UTR-CDS | Chr9:35490169 | Chr16:8857926 |
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TissGeneNet for ABAT |
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 ABAT |
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 ABAT |
TissGeneDrug for ABAT |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB01080 | Vigabatrin | Inhibitor | Small molecule | Approved |
DB00313 | Valproic Acid | Inhibitor | Small molecule | Approved|Investigational |
DB00119 | Pyruvic acid | Inhibitor | Small molecule | Approved|Nutraceutical |
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TissGeneDisease for ABAT |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0036572 | Seizures | 4 | CTD_human,RGD |
umls:C0013386 | Dyskinesia, Drug-Induced | 3 | GAD,RGD |
umls:C0004352 | Autistic Disorder | 2 | BeFree,CTD_human,GAD |
umls:C0036341 | Schizophrenia | 2 | BeFree,GAD |
umls:C0003123 | Anorexia | 1 | RGD |
umls:C0011581 | Depressive disorder | 1 | RGD |
umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
umls:C0017168 | Gastroesophageal reflux disease | 1 | BeFree,CTD_human |
umls:C0019337 | Heroin Dependence | 1 | RGD |
umls:C0020179 | Huntington Disease | 1 | RGD |
umls:C0020429 | Hyperalgesia | 1 | RGD |
umls:C0020538 | Hypertensive disease | 1 | RGD |
umls:C0022116 | Ischemia | 1 | RGD |
umls:C0023380 | Lethargy | 1 | CTD_human |
umls:C0026827 | Muscle hypotonia | 1 | CTD_human |
umls:C0027404 | Narcolepsy | 1 | GAD |
umls:C0033922 | Psychomotor Disorders | 1 | CTD_human |
umls:C0034933 | Reflex, Abnormal | 1 | CTD_human |
umls:C0037769 | West Syndrome | 1 | RGD |
umls:C0038220 | Status Epilepticus | 1 | RGD |
umls:C0040264 | Tinnitus | 1 | RGD |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0236736 | Cocaine-Related Disorders | 1 | RGD |
umls:C0242422 | Parkinsonian Disorders | 1 | RGD |
umls:C0270857 | Epilepsy, Reflex | 1 | RGD |
umls:C0342708 | Gamma aminobutyric acid transaminase deficiency | 1 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
umls:C0525045 | Mood Disorders | 1 | BeFree |