TissGDB
Tissglogo

Home

Download

 Statistics

 Landscape

Help

Contact

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

bullet point

TissGeneSummary

bullet point

TissGeneExp

bullet point

TissGene-miRNA

bullet point

TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

bullet point

TissGeneNet

bullet point

TissGeneProg

bullet point

TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for ALAS2
check button Gene summary
Basic gene informationGene symbolALAS2
Gene name5'-aminolevulinate synthase 2
SynonymsALAS-E|ALASE|ANH1|ASB|XLDPP|XLEPP|XLSA
CytomapUCSC genome browser: Xp11.21
Type of geneprotein-coding
RefGenesNM_000032.4,
NM_001037967.3,NM_001037968.3,NM_001037969.2,
Description5-aminolevulinate synthase, erythroid-specific, mitochondrial5-aminolevulinic acid synthase 2aminolevulinate, delta-, synthase 2delta-ALA synthase 2delta-ALA synthetasedelta-aminolevulinate synthase 2
Modification date20141219
dbXrefs MIM : 301300
HGNC : HGNC
Ensembl : ENSG00000158578
HPRD : 02356
Vega : OTTHUMG00000021641
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ALAS2
BioGPS: 212
PathwayNCI Pathway Interaction Database: ALAS2
KEGG: ALAS2
REACTOME: ALAS2
Pathway Commons: ALAS2
ContextiHOP: ALAS2
ligand binding site mutation search in PubMed: ALAS2
UCL Cancer Institute: ALAS2
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesHPA,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 annotationsTissgsKTS
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.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID
GO:0001666response to hypoxia16234850
GO:0001666response to hypoxia16234850


Top
TissGeneExp for ALAS2

check button 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 exp


check button 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 isoform exp


check button 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.
normal gene exp


check button 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)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR
LUAD-0.9432793631.878679258-2.8219586219.55E-137.49E-12
BRCA-2.142525068-0.563625068-1.57897.00E-133.19E-12
LUSC-1.5168085041.957579731-3.4743882352.83E-172.33E-16
COAD-2.140878037-0.211043421-1.9298346153.01E-061.53E-05
STAD-1.60835544-0.203527315-1.4048281250.001870.00865356
LIHC-1.24988619-0.10301019-1.1468760.0001920.000618914
THCA-1.818519106-0.80963775-1.0088813566.13E-050.00017311


Top
TissGene-miRNA for ALAS2

check button 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 typemiRNA idmiRNA accessionP-val.Coeff.# samples


Top
TissGeneMut for ALAS2
TissGeneSNV for ALAS2

check button 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.
SNV lollipop
bullet point


check button 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)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.R375HSTAD2
p.A370TUCS1
p.W10*BLCA1
p.A172SSARC1
p.K496EUCEC1
p.V193FOV1
p.R22TBRCA1
p.P63SSKCM1
p.H523QBRCA1
p.R517CSTAD1
p.E341KUCEC1
p.R480CCOAD1
p.Q50EBLCA1
p.V26GSTAD1
p.C338YSTAD1
p.A542VTHYM1
p.P138RLUAD1
p.E530XKIRC1
p.G398SDLBC1
p.Y175*LUAD1
p.S386CBLCA1
p.G544EPAAD1
p.I51MLUAD1
p.S280YREAD1
p.N577SUCEC1
p.L461RSTAD1
p.A282TCOAD1
p.R170HPAAD1
p.R411XREAD1
p.L423PESCA1
p.G440ESKCM1
p.E123GSTAD1
p.I441VCOAD1
p.K27RSKCM1
p.Q78*SKCM1
p.R338HREAD1
p.T19ILGG1
p.A392VUCEC1
p.L494FUCEC1
p.A79TSTAD1
p.R163CUCEC1
p.M296ISKCM1
p.R368WPAAD1
p.M333ISKCM1
p.D383VTHYM1
p.E530*KIRC1
p.S75LSTAD1
p.N482TSTAD1
p.M1IUCEC1
p.R436QESCA1
p.R218CSTAD1
p.A245TCOAD1
p.R427SREAD1
p.P580SSTAD1
p.A414DUCEC1
p.S525IUCEC1
p.E328QCESC1
p.D159NSKCM1
p.K275TCOAD1
p.V506MSKCM1
p.K57QLUAD1
p.K311NUCEC1
p.E245KBRCA1
p.L14FSTAD1
p.N169KCESC1
p.H52QLUAD1
p.V543MSKCM1
p.L494HLUAD1
p.M409THNSC1
p.M529LCESC1
p.R375CHNSC1
p.Q78XSKCM1
p.R375CKIRC1
p.A55TSTAD1
p.D122NSKCM1
p.S99LSTAD1
p.V50GSTAD1
p.G512RHNSC1
p.R436QUCEC1
p.H380QHNSC1
p.R227HBRCA1
p.G80ASARC1
p.R218HKIRP1
p.H523QPRAD1
p.R375CUCS1
p.S126FSKCM1


Top
TissGeneCNV for ALAS2

check button 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)
CNV


Top
TissGeneFusions for ALAS2

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP
Chimerdb3.0ChiTaRsNAAI207561ALAS2-ALBchrX:55039953chr4:74285286
Chimerdb3.0ChiTaRsNAAF130113CYB5B-ALAS2chr16:69496744chrX:55035491


Top
TissGeneNet for ALAS2

check button 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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point
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)
bullet pointbullet point


Top
TissGeneProg for ALAS2

check button 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.
survival 1

check button 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.
survival 2

check button 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.
survival 3

check button 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.
survival 4

Top
TissGeneClin for ALAS2
TissGeneDrug for ALAS2

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status


Top
TissGeneDisease for ALAS2

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0221018Hereditary sideroblastic anemia39BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
umls:C0002896Sideroblastic anemia15BeFree,CTD_human,LHGDN
umls:C0282193Iron Overload8BeFree
umls:C0026709Mucopolysaccharidosis VI6BeFree
umls:C0162568Erythropoietic Protoporphyria5BeFree,ORPHANET
umls:C0002871Anemia4BeFree
umls:C0085078Lysosomal Storage Diseases3BeFree
umls:C0162530Porphyria, Erythropoietic3BeFree
umls:C0272027Pyridoxine-responsive sideroblastic anemia3BeFree
umls:C2937227X chromosome-linked pyridoxine responsive sideroblastic anemia3BeFree
umls:C0085576Iron-Refractory Iron Deficiency Anemia2BeFree
umls:C0392514Hereditary hemochromatosis2BeFree
umls:C0002878Anemia, Hemolytic1RGD
umls:C0002886Anemia, Macrocytic1BeFree
umls:C0002893Refractory anemias1BeFree
umls:C0004134Ataxia1BeFree
umls:C0018995Hemochromatosis1LHGDN
umls:C0023895Liver diseases1BeFree
umls:C0023904Liver Neoplasms, Experimental1CTD_human
umls:C0026703Mucopolysaccharidoses1BeFree
umls:C0087012Ataxia, Spinocerebellar1BeFree
umls:C0155876Obstructive chronic bronchitis with acute exacerbation1BeFree
umls:C0271979Thalassemia Intermedia1BeFree
umls:C0272024Secondary acquired sideroblastic anemia1BeFree
umls:C0678199Dyserythropoietic anemia1BeFree
umls:C0836924Thrombocytosis1BeFree
umls:C1136249Mental Retardation, X-Linked1BeFree
umls:C1264195Refractory anemia with ringed sideroblasts1BeFree
umls:C2931498Mental Retardation, X-Linked 11BeFree
umls:C2981142Refractory anemia, without ringed sideroblasts, without excess blasts1BeFree
umls:C2677889Protoporphyria, Erythropoietic, X-Linked Dominant0CLINVAR,CTD_human