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| TissGeneSummary for ALDH1L1 |
 Gene summary |
| Basic gene information | Gene symbol | ALDH1L1 |
| Gene name | aldehyde dehydrogenase 1 family, member L1 | |
| Synonyms | 10-FTHFDH|10-fTHF|FDH|FTHFD | |
| Cytomap | UCSC genome browser: 3q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001270364.1, NM_001270365.1,NM_012190.3,NR_072979.1, | |
| Description | 10-formyltetrahydrofolate dehydrogenaseMER57B-ALDH1L1cytosolic 10-formyltetrahydrofolate dehydrogenase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600249 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000144908 | ||
| HPRD : 02594 | ||
| Vega : OTTHUMG00000125551 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ALDH1L1 | |
| BioGPS: 10840 | ||
| Pathway | NCI Pathway Interaction Database: ALDH1L1 | |
| KEGG: ALDH1L1 | ||
| REACTOME: ALDH1L1 | ||
| Pathway Commons: ALDH1L1 | ||
| Context | iHOP: ALDH1L1 | |
| ligand binding site mutation search in PubMed: ALDH1L1 | ||
| UCL Cancer Institute: ALDH1L1 | ||
| 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) | BladderLiver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | BLCALIHC | |
| Reference showing the relevant tissue of ALDH1L1 | ||
| Description by TissGene annotations | Fused withTSGene | |
| * 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 ALDH1L1 |
| 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 |
| HNSC | -1.438700854 | 2.278385193 | -3.717086047 | 4.36E-11 | 9.62E-10 |
| BRCA | -2.895906933 | 2.590897453 | -5.486804386 | 4.86E-51 | 4.06E-49 |
| KIRC | 3.745962292 | 5.02675257 | -1.280790278 | 1.27E-05 | 2.95E-05 |
| THCA | -2.203725726 | -0.734766404 | -1.468959322 | 7.56E-07 | 2.91E-06 |
| KIRP | 4.441060556 | 5.714101181 | -1.273040625 | 0.0059 | 0.013679214 |
| STAD | -2.191364444 | -0.139064444 | -2.0523 | 0.00104 | 0.005503435 |
| COAD | -0.206461319 | 1.868680989 | -2.075142308 | 0.000646 | 0.001938885 |
| LIHC | 6.313378681 | 7.760076681 | -1.446698 | 0.000306 | 0.000937415 |
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| TissGene-miRNA for ALDH1L1 |
| 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 ALDH1L1 |
| TissGeneSNV for ALDH1L1 |
| 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.W136* | SKCM | 1 |
| p.G630C | LUAD | 1 |
| p.E257K | HNSC | 1 |
| p.L133V | PAAD | 1 |
| p.P62S | SKCM | 1 |
| p.A467T | PAAD | 1 |
| p.P33A | HNSC | 1 |
| p.A467T | OV | 1 |
| p.H752Y | LUSC | 1 |
| p.S665N | HNSC | 1 |
| p.E901K | UCEC | 1 |
| p.L688F | SKCM | 1 |
| p.G226E | SKCM | 1 |
| p.T649K | SARC | 1 |
| p.D494Y | LUAD | 1 |
| p.A324S | ACC | 1 |
| p.C86F | SARC | 1 |
| p.D745N | UCEC | 1 |
| p.R109Q | STAD | 1 |
| p.G236R | SKCM | 1 |
| p.K479T | STAD | 1 |
| p.R114Q | HNSC | 1 |
| p.G63V | LUAD | 1 |
| p.S631C | CESC | 1 |
| p.G650S | SKCM | 1 |
| p.A334S | ACC | 1 |
| p.E257K | OV | 1 |
| p.G747R | LUAD | 1 |
| p.D793G | COAD | 1 |
| p.G37* | LUAD | 1 |
| p.W582* | STAD | 1 |
| p.G126E | SKCM | 1 |
| p.A511V | STAD | 1 |
| p.G226R | SKCM | 1 |
| p.A227T | STAD | 1 |
| p.I570T | LIHC | 1 |
| p.E25K | SKCM | 1 |
| p.A477T | THYM | 1 |
| p.C762* | LUAD | 1 |
| p.M11I | SKCM | 1 |
| p.E722K | SKCM | 1 |
| p.G175E | SKCM | 1 |
| p.N738D | UCEC | 1 |
| p.Q178K | LUSC | 1 |
| p.Q74H | COAD | 1 |
| p.G43C | HNSC | 1 |
| p.R781W | BLCA | 1 |
| p.G634S | UCEC | 1 |
| p.W146X | SKCM | 1 |
| p.S675C | LIHC | 1 |
| p.A229T | PAAD | 1 |
| p.K2T | STAD | 1 |
| p.G757R | KIRC | 1 |
| p.K469T | STAD | 1 |
| p.V734M | LGG | 1 |
| p.R419H | SARC | 1 |
| p.C152S | SARC | 1 |
| p.A521V | STAD | 1 |
| p.E730K | SKCM | 1 |
| p.L29M | STAD | 1 |
| p.S102Y | CESC | 1 |
| p.V860F | OV | 1 |
| p.R712* | ESCA | 1 |
| p.W592X | STAD | 1 |
| p.L360Q | HNSC | 1 |
| p.T159I | SKCM | 1 |
| p.R732W | UCEC | 1 |
| p.A61T | COAD | 1 |
| p.G370A | READ | 1 |
| p.L19M | STAD | 1 |
| p.Q498K | PRAD | 1 |
| p.K437N | UCEC | 1 |
| p.G779E | SKCM | 1 |
| p.R278W | SKCM | 1 |
| p.E760K | SKCM | 1 |
| p.S836F | ESCA | 1 |
| p.D40Y | HNSC | 1 |
| p.D399N | SKCM | 1 |
| p.G807R | STAD | 1 |
| p.D399N | LUSC | 1 |
| p.P52S | SKCM | 1 |
| p.G385E | SKCM | 1 |
| p.E35K | SKCM | 1 |
| p.A219T | PAAD | 1 |
| p.K539E | THCA | 1 |
| p.R99Q | STAD | 1 |
| p.G236E | SKCM | 1 |
| p.E171Q | CESC | 1 |
| p.K549E | THCA | 1 |
| p.P871S | SKCM | 1 |
| p.R722X | ESCA | 1 |
| p.S878Y | PAAD | 1 |
| p.E901K | READ | 1 |
| p.D721H | LUSC | 1 |
| p.C597R | KIRP | 1 |
| p.N227K | OV | 1 |
| p.R99W | STAD | 1 |
| p.T516M | SARC | 1 |
| p.P739L | COAD | 1 |
| p.D40N | READ | 1 |
| p.E55K | SKCM | 1 |
| p.V524I | STAD | 1 |
| p.G747R | SKCM | 1 |
| p.Q508K | PRAD | 1 |
| p.F796V | KIRP | 1 |
| p.V724M | LGG | 1 |
| p.A478T | KIRP | 1 |
| p.F786V | KIRP | 1 |
| p.G776W | LUAD | 1 |
| p.P454T | ESCA | 1 |
| p.A217T | STAD | 1 |
| p.V514I | STAD | 1 |
| p.V574D | STAD | 1 |
| p.G130V | LUAD | 1 |
| p.D386G | UCEC | 1 |
| p.V367I | ESCA | 1 |
| p.H720Y | SKCM | 1 |
| p.E45K | SKCM | 1 |
| p.R497W | STAD | 1 |
| p.E434Q | LUSC | 1 |
| p.G63L | LUAD | 1 |
| p.V357I | ESCA | 1 |
| p.D157G | ESCA | 1 |
| p.E439A | DLBC | 1 |
| p.A353V | UCEC | 1 |
| p.F723I | SKCM | 1 |
| p.E740K | SKCM | 1 |
| p.P881S | SKCM | 1 |
| p.D793Y | COAD | 1 |
| p.R712* | LGG | 1 |
| p.T138I | SKCM | 1 |
| p.R268W | SKCM | 1 |
| p.Q703H | PAAD | 1 |
| p.D409N | SKCM | 1 |
| p.R181M | LUAD | 1 |
| p.L607F | BLCA | 1 |
| p.S888Y | PAAD | 1 |
| p.D167G | ESCA | 1 |
| p.V756L | BRCA | 1 |
| p.G747R | KIRC | 1 |
| p.Q8L | SKCM | 1 |
| p.G817R | STAD | 1 |
| p.G769E | SKCM | 1 |
| p.E185D | BLCA | 1 |
| p.T169I | SKCM | 1 |
| p.G757R | SKCM | 1 |
| p.E730* | LGG | 1 |
| p.A508T | KIRC | 1 |
| p.R109W | STAD | 1 |
| p.A879P | PRAD | 1 |
| p.G63* | LUAD | 1 |
| p.V475L | KIRC | 1 |
| p.Q693H | PAAD | 1 |
| p.L488V | BRCA | 1 |
| p.A869P | PRAD | 1 |
| p.E770K | SKCM | 1 |
| p.L157M | LUAD | 1 |
| p.C159Y | PAAD | 1 |
| p.L123V | PAAD | 1 |
| p.S247* | HNSC | 1 |
| p.L66F | BRCA | 1 |
| p.T441I | UCEC | 1 |
| p.R826Q | UCEC | 1 |
| p.P444T | ESCA | 1 |
| p.D460Y | LUAD | 1 |
| p.Y73F | LUAD | 1 |
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| TissGeneCNV for ALDH1L1 |
| 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 ALDH1L1 |
| 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 | BX500047 | RHOQ-ALDH1L1 | chr2:46806967 | chr3:125877247 | |
| Chimerdb3.0 | ChiTaRs | NA | BF365444 | ALDH1L1-SPATA6L | chr3:125848723 | chr9:4663915 | |
| TCGAfusionPortal | PRADA | BRCA | TCGA-AC-A2FF-01A | TMCC1-ALDH1L1 | Out-of-frame | Chr3:129546646 | Chr3:125879845 |
| TCGAfusionPortal | PRADA | KIRC | TCGA-CJ-4886-01A | APC-ALDH1L1 | 5UTR-CDS | Chr5:112043579 | Chr3:125879845 |
| TCGAfusionPortal | PRADA | LGG | TCGA-HT-7858-01A | CNBP-ALDH1L1 | 5UTR-CDS | Chr3:128902619 | Chr3:125831723 |
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| TissGeneNet for ALDH1L1 |
| 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) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| COAD (tumor) | COAD (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| HNSC (tumor) | HNSC (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| KICH (tumor) | KICH (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| KIRC (tumor) | KIRC (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| KIRP (tumor) | KIRP (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| LIHC (tumor) | LIHC (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| LUAD (tumor) | LUAD (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| LUSC (tumor) | LUSC (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| PRAD (tumor) | PRAD (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| STAD (tumor) | STAD (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| THCA (tumor) | THCA (normal) |
| ALDH1L1, HNF4A (tumor) | ALDH1L1, HNF4A (normal) |
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| TissGeneProg for ALDH1L1 |
| 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 ALDH1L1 |
| TissGeneDrug for ALDH1L1 |
| 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 ALDH1L1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0024305 | Lymphoma, Non-Hodgkin | 4 | BeFree,GAD |
| umls:C0006142 | Malignant neoplasm of breast | 2 | BeFree,GAD |
| umls:C0079745 | Lymphoma, Large-Cell, Follicular | 2 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 2 | BeFree,GAD |
| umls:C0003130 | Anoxia | 1 | CTD_human |
| umls:C0004114 | Astrocytoma | 1 | BeFree |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | GAD |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 1 | GAD |
| umls:C0008924 | Cleft Lip | 1 | GAD |
| umls:C0008925 | Cleft Palate | 1 | GAD |
| umls:C0022735 | Klinefelter Syndrome | 1 | BeFree |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| umls:C0024117 | Chronic Obstructive Airway Disease | 1 | GAD |
| umls:C0024121 | Lung Neoplasms | 1 | GAD |
| umls:C0024301 | Lymphoma, Follicular | 1 | GAD |
| umls:C0028754 | Obesity | 1 | CTD_human |
| umls:C0033578 | Prostatic Neoplasms | 1 | LHGDN |
| umls:C0038454 | Cerebrovascular accident | 1 | GAD |
| umls:C0038525 | Subarachnoid Hemorrhage | 1 | GAD |
| umls:C0079731 | B-Cell Lymphomas | 1 | GAD |
| umls:C0079744 | Diffuse Large B-Cell Lymphoma | 1 | GAD |
| umls:C0079772 | T-Cell Lymphoma | 1 | GAD |
| umls:C0080178 | Spina Bifida | 1 | BeFree,GAD |
| umls:C0151699 | Intracranial Hemorrhages | 1 | GAD |
| umls:C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | BeFree |
| umls:C0334583 | Pilocytic Astrocytoma | 1 | BeFree |
| umls:C0432474 | Klinefelter's syndrome - male with more than two X chromosomes | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C0684249 | Carcinoma of lung | 1 | BeFree |
| umls:C0948008 | Ischemic stroke | 1 | BeFree |
| umls:C1271104 | Blood pressure finding | 1 | GAD |
| umls:C1272641 | Systemic arterial pressure | 1 | GAD |
| umls:C1527249 | Colorectal Cancer | 1 | GAD |
| umls:C2937358 | Cerebral Hemorrhage | 1 | GAD |
| umls:C3272363 | Ischemic Cerebrovascular Accident | 1 | BeFree |
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