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| TissGeneSummary for ALAS2 |
 Gene summary |
| Basic gene information | Gene symbol | ALAS2 |
| Gene name | 5'-aminolevulinate synthase 2 | |
| Synonyms | ALAS-E|ALASE|ANH1|ASB|XLDPP|XLEPP|XLSA | |
| Cytomap | UCSC genome browser: Xp11.21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000032.4, NM_001037967.3,NM_001037968.3,NM_001037969.2, | |
| Description | 5-aminolevulinate synthase, erythroid-specific, mitochondrial5-aminolevulinic acid synthase 2aminolevulinate, delta-, synthase 2delta-ALA synthase 2delta-ALA synthetasedelta-aminolevulinate synthase 2 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 301300 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000158578 | ||
| HPRD : 02356 | ||
| Vega : OTTHUMG00000021641 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ALAS2 | |
| BioGPS: 212 | ||
| Pathway | NCI Pathway Interaction Database: ALAS2 | |
| KEGG: ALAS2 | ||
| REACTOME: ALAS2 | ||
| Pathway Commons: ALAS2 | ||
| Context | iHOP: ALAS2 | |
| ligand binding site mutation search in PubMed: ALAS2 | ||
| UCL Cancer Institute: ALAS2 | ||
| 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) | Bone marrowLiver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LAMLLIHC | |
| Reference showing the relevant tissue of ALAS2 | ||
| Description by TissGene annotations | TissgsKTS CNV gained TissGeneKTS | |
| * 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 | GO:0001666 | response to hypoxia | 16234850 | GO:0001666 | response to hypoxia | 16234850 |
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| TissGeneExp for ALAS2 |
| 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 |
| LUAD | -0.943279363 | 1.878679258 | -2.821958621 | 9.55E-13 | 7.49E-12 |
| BRCA | -2.142525068 | -0.563625068 | -1.5789 | 7.00E-13 | 3.19E-12 |
| LUSC | -1.516808504 | 1.957579731 | -3.474388235 | 2.83E-17 | 2.33E-16 |
| COAD | -2.140878037 | -0.211043421 | -1.929834615 | 3.01E-06 | 1.53E-05 |
| STAD | -1.60835544 | -0.203527315 | -1.404828125 | 0.00187 | 0.00865356 |
| LIHC | -1.24988619 | -0.10301019 | -1.146876 | 0.000192 | 0.000618914 |
| THCA | -1.818519106 | -0.80963775 | -1.008881356 | 6.13E-05 | 0.00017311 |
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| TissGene-miRNA for ALAS2 |
| 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 ALAS2 |
| TissGeneSNV for ALAS2 |
| 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.R375H | STAD | 2 |
| p.A370T | UCS | 1 |
| p.W10* | BLCA | 1 |
| p.A172S | SARC | 1 |
| p.K496E | UCEC | 1 |
| p.V193F | OV | 1 |
| p.R22T | BRCA | 1 |
| p.P63S | SKCM | 1 |
| p.H523Q | BRCA | 1 |
| p.R517C | STAD | 1 |
| p.E341K | UCEC | 1 |
| p.R480C | COAD | 1 |
| p.Q50E | BLCA | 1 |
| p.V26G | STAD | 1 |
| p.C338Y | STAD | 1 |
| p.A542V | THYM | 1 |
| p.P138R | LUAD | 1 |
| p.E530X | KIRC | 1 |
| p.G398S | DLBC | 1 |
| p.Y175* | LUAD | 1 |
| p.S386C | BLCA | 1 |
| p.G544E | PAAD | 1 |
| p.I51M | LUAD | 1 |
| p.S280Y | READ | 1 |
| p.N577S | UCEC | 1 |
| p.L461R | STAD | 1 |
| p.A282T | COAD | 1 |
| p.R170H | PAAD | 1 |
| p.R411X | READ | 1 |
| p.L423P | ESCA | 1 |
| p.G440E | SKCM | 1 |
| p.E123G | STAD | 1 |
| p.I441V | COAD | 1 |
| p.K27R | SKCM | 1 |
| p.Q78* | SKCM | 1 |
| p.R338H | READ | 1 |
| p.T19I | LGG | 1 |
| p.A392V | UCEC | 1 |
| p.L494F | UCEC | 1 |
| p.A79T | STAD | 1 |
| p.R163C | UCEC | 1 |
| p.M296I | SKCM | 1 |
| p.R368W | PAAD | 1 |
| p.M333I | SKCM | 1 |
| p.D383V | THYM | 1 |
| p.E530* | KIRC | 1 |
| p.S75L | STAD | 1 |
| p.N482T | STAD | 1 |
| p.M1I | UCEC | 1 |
| p.R436Q | ESCA | 1 |
| p.R218C | STAD | 1 |
| p.A245T | COAD | 1 |
| p.R427S | READ | 1 |
| p.P580S | STAD | 1 |
| p.A414D | UCEC | 1 |
| p.S525I | UCEC | 1 |
| p.E328Q | CESC | 1 |
| p.D159N | SKCM | 1 |
| p.K275T | COAD | 1 |
| p.V506M | SKCM | 1 |
| p.K57Q | LUAD | 1 |
| p.K311N | UCEC | 1 |
| p.E245K | BRCA | 1 |
| p.L14F | STAD | 1 |
| p.N169K | CESC | 1 |
| p.H52Q | LUAD | 1 |
| p.V543M | SKCM | 1 |
| p.L494H | LUAD | 1 |
| p.M409T | HNSC | 1 |
| p.M529L | CESC | 1 |
| p.R375C | HNSC | 1 |
| p.Q78X | SKCM | 1 |
| p.R375C | KIRC | 1 |
| p.A55T | STAD | 1 |
| p.D122N | SKCM | 1 |
| p.S99L | STAD | 1 |
| p.V50G | STAD | 1 |
| p.G512R | HNSC | 1 |
| p.R436Q | UCEC | 1 |
| p.H380Q | HNSC | 1 |
| p.R227H | BRCA | 1 |
| p.G80A | SARC | 1 |
| p.R218H | KIRP | 1 |
| p.H523Q | PRAD | 1 |
| p.R375C | UCS | 1 |
| p.S126F | SKCM | 1 |
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| TissGeneCNV for ALAS2 |
| 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 ALAS2 |
| 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 | AI207561 | ALAS2-ALB | chrX:55039953 | chr4:74285286 | |
| Chimerdb3.0 | ChiTaRs | NA | AF130113 | CYB5B-ALAS2 | chr16:69496744 | chrX:55035491 |
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| TissGeneNet for ALAS2 |
| 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) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| COAD (tumor) | COAD (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| KICH (tumor) | KICH (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| STAD (tumor) | STAD (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| THCA (tumor) | THCA (normal) |
| ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (tumor) | ALAS2, TBP, GRB2, CDK9, ELANE, GATA1, CDC73, TRIM33, RABGGTB, SUCLA2 (normal) |
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| TissGeneProg for ALAS2 |
| 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 ALAS2 |
| TissGeneDrug for ALAS2 |
| 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 ALAS2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0221018 | Hereditary sideroblastic anemia | 39 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0002896 | Sideroblastic anemia | 15 | BeFree,CTD_human,LHGDN |
| umls:C0282193 | Iron Overload | 8 | BeFree |
| umls:C0026709 | Mucopolysaccharidosis VI | 6 | BeFree |
| umls:C0162568 | Erythropoietic Protoporphyria | 5 | BeFree,ORPHANET |
| umls:C0002871 | Anemia | 4 | BeFree |
| umls:C0085078 | Lysosomal Storage Diseases | 3 | BeFree |
| umls:C0162530 | Porphyria, Erythropoietic | 3 | BeFree |
| umls:C0272027 | Pyridoxine-responsive sideroblastic anemia | 3 | BeFree |
| umls:C2937227 | X chromosome-linked pyridoxine responsive sideroblastic anemia | 3 | BeFree |
| umls:C0085576 | Iron-Refractory Iron Deficiency Anemia | 2 | BeFree |
| umls:C0392514 | Hereditary hemochromatosis | 2 | BeFree |
| umls:C0002878 | Anemia, Hemolytic | 1 | RGD |
| umls:C0002886 | Anemia, Macrocytic | 1 | BeFree |
| umls:C0002893 | Refractory anemias | 1 | BeFree |
| umls:C0004134 | Ataxia | 1 | BeFree |
| umls:C0018995 | Hemochromatosis | 1 | LHGDN |
| umls:C0023895 | Liver diseases | 1 | BeFree |
| umls:C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| umls:C0026703 | Mucopolysaccharidoses | 1 | BeFree |
| umls:C0087012 | Ataxia, Spinocerebellar | 1 | BeFree |
| umls:C0155876 | Obstructive chronic bronchitis with acute exacerbation | 1 | BeFree |
| umls:C0271979 | Thalassemia Intermedia | 1 | BeFree |
| umls:C0272024 | Secondary acquired sideroblastic anemia | 1 | BeFree |
| umls:C0678199 | Dyserythropoietic anemia | 1 | BeFree |
| umls:C0836924 | Thrombocytosis | 1 | BeFree |
| umls:C1136249 | Mental Retardation, X-Linked | 1 | BeFree |
| umls:C1264195 | Refractory anemia with ringed sideroblasts | 1 | BeFree |
| umls:C2931498 | Mental Retardation, X-Linked 1 | 1 | BeFree |
| umls:C2981142 | Refractory anemia, without ringed sideroblasts, without excess blasts | 1 | BeFree |
| umls:C2677889 | Protoporphyria, Erythropoietic, X-Linked Dominant | 0 | CLINVAR,CTD_human |
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