TissGeneSummary for ALDH6A1 |
Gene summary |
Basic gene information | Gene symbol | ALDH6A1 |
Gene name | aldehyde dehydrogenase 6 family, member A1 | |
Synonyms | MMSADHA|MMSDH | |
Cytomap | UCSC genome browser: 14q24.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001278593.1, NM_001278594.1,NM_005589.3, | |
Description | malonate-semialdehyde dehydrogenasemethylmalonate-semialdehyde dehydrogenase [acylating], mitochondrialmitochondrial acylating methylmalonate-semialdehyde dehydrogenase | |
Modification date | 20141207 | |
dbXrefs | MIM : 603178 | |
HGNC : HGNC | ||
Ensembl : ENSG00000119711 | ||
HPRD : 04416 | ||
Vega : OTTHUMG00000171203 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ALDH6A1 | |
BioGPS: 4329 | ||
Pathway | NCI Pathway Interaction Database: ALDH6A1 | |
KEGG: ALDH6A1 | ||
REACTOME: ALDH6A1 | ||
Pathway Commons: ALDH6A1 | ||
Context | iHOP: ALDH6A1 | |
ligand binding site mutation search in PubMed: ALDH6A1 | ||
UCL Cancer Institute: ALDH6A1 | ||
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) | KidneyLiver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHLIHC | |
Reference showing the relevant tissue of ALDH6A1 | ||
Description by TissGene annotations | Have significant anti-correlated miRNA TissgsLTS |
* 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 ALDH6A1 |
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 |
HNSC | 0.028962605 | 1.427941674 | -1.39897907 | 4.61E-10 | 8.17E-09 |
KIRC | 2.016348813 | 4.821698813 | -2.80535 | 4.81E-24 | 5.28E-23 |
THCA | 1.058595399 | 2.116397094 | -1.057801695 | 5.69E-10 | 3.40E-09 |
KIRP | 2.59913666 | 5.23466166 | -2.635525 | 2.79E-08 | 1.94E-07 |
LIHC | 3.962105535 | 5.950411535 | -1.988306 | 7.52E-12 | 1.24E-10 |
STAD | 1.28555541 | 2.69889916 | -1.41334375 | 2.38E-13 | 1.07E-10 |
ESCA | 1.149110808 | 3.418265353 | -2.269154545 | 6.18E-05 | 0.002195759 |
KICH | 2.572695535 | 4.280379535 | -1.707684 | 8.83E-05 | 0.000233349 |
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TissGene-miRNA for ALDH6A1 |
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-let-7c-5p | MIMAT0000064 | 0.026 | -0.3 | 56 |
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TissGeneMut for ALDH6A1 |
TissGeneSNV for ALDH6A1 |
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.P231S | SKCM | 2 |
p.E114* | UCEC | 1 |
p.L142I | COAD | 1 |
p.P91T | LUSC | 1 |
p.I191T | UCEC | 1 |
p.N346D | UCEC | 1 |
p.R140* | UCEC | 1 |
p.S150G | STAD | 1 |
p.G273E | LIHC | 1 |
p.R11Q | ESCA | 1 |
p.R386* | UCEC | 1 |
p.G348E | LUAD | 1 |
p.M160I | COAD | 1 |
p.R101C | PAAD | 1 |
p.I449S | LGG | 1 |
p.R366* | UCEC | 1 |
p.Q109E | STAD | 1 |
p.S85F | HNSC | 1 |
p.S29L | SKCM | 1 |
p.P334T | ACC | 1 |
p.G493E | SKCM | 1 |
p.K255E | PRAD | 1 |
p.N346D | STAD | 1 |
p.F419S | COAD | 1 |
p.T513N | UCEC | 1 |
p.R101C | STAD | 1 |
p.R279K | SKCM | 1 |
p.S24C | LUAD | 1 |
p.R88C | COAD | 1 |
p.F491L | THYM | 1 |
p.G493A | SKCM | 1 |
p.A189V | LGG | 1 |
p.A319T | PRAD | 1 |
p.F247C | ESCA | 1 |
p.S490F | SKCM | 1 |
p.F497L | READ | 1 |
p.L220F | LGG | 1 |
p.N303S | READ | 1 |
p.D250Y | LGG | 1 |
p.V291A | GBM | 1 |
p.A347V | STAD | 1 |
p.G311V | COAD | 1 |
p.S380Y | THYM | 1 |
p.N496I | KIRP | 1 |
p.R316C | STAD | 1 |
p.P252Q | HNSC | 1 |
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TissGeneCNV for ALDH6A1 |
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 ALDH6A1 |
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 ALDH6A1 |
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 ALDH6A1 |
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 ALDH6A1 |
TissGeneDrug for ALDH6A1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for ALDH6A1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0028754 | Obesity | 2 | BeFree,CTD_human |
umls:C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | BeFree |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0151744 | Myocardial Ischemia | 1 | CTD_human |
umls:C0342737 | 3-Hydroxyisobutyric aciduria | 1 | BeFree |
umls:C3279840 | Methylmalonate Semialdehyde Dehydrogenase Deficiency | 1 | ORPHANET,UNIPROT |