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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ALAS2 |
Basic gene info. | Gene symbol | ALAS2 |
Gene name | 5'-aminolevulinate synthase 2 | |
Synonyms | ALAS-E|ALASE|ANH1|ASB|XLDPP|XLEPP|XLSA | |
Cytomap | UCSC genome browser: Xp11.21 | |
Genomic location | chrX :55035487-55057497 | |
Type of gene | protein-coding | |
RefGenes | NM_000032.4, NM_001037967.3,NM_001037968.3,NM_001037969.2, | |
Ensembl id | ENSG00000158578 | |
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 | ||
Gene Expression Atlas: ENSG00000158578 | ||
The Human Protein Atlas: ENSG00000158578 | ||
Pathway | NCI Pathway Interaction Database: ALAS2 | |
KEGG: ALAS2 | ||
REACTOME: ALAS2 | ||
ConsensusPathDB | ||
Pathway Commons: ALAS2 | ||
Metabolism | MetaCyc: ALAS2 | |
HUMANCyc: ALAS2 | ||
Regulation | Ensembl's Regulation: ENSG00000158578 | |
miRBase: chrX :55,035,487-55,057,497 | ||
TargetScan: NM_000032 | ||
cisRED: ENSG00000158578 | ||
Context | iHOP: ALAS2 | |
cancer metabolism search in PubMed: ALAS2 | ||
UCL Cancer Institute: ALAS2 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for ALAS2(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: ALAS2 |
Familial Cancer Database: ALAS2 |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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KEGG_GLYCINE_SERINE_AND_THREONINE_METABOLISM KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM REACTOME_METABOLISM_OF_PORPHYRINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: ALAS2 |
MedGen: ALAS2 (Human Medical Genetics with Condition) | |
ClinVar: ALAS2 | |
Phenotype | MGI: ALAS2 (International Mouse Phenotyping Consortium) |
PhenomicDB: ALAS2 |
Mutations for ALAS2 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ALAS2 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
AI207561 | ALAS2 | 20 | 340 | X | 55035491 | 55039953 | ALB | 338 | 642 | 4 | 74285286 | 74286973 | |
AF130113 | CYB5B | 1 | 854 | 16 | 69458507 | 69496744 | ALAS2 | 847 | 1858 | X | 55035491 | 55044047 |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=54) | (# total SNVs=15) |
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(# total SNVs=0) | (# total SNVs=1) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr23:55046763-55046763 | p.K271N | 2 |
chr23:55042056-55042056 | p.R375C | 2 |
chr23:55042168-55042168 | p.I337I | 2 |
chr23:55047636-55047636 | p.R163C | 2 |
chr23:55040048-55040048 | p.D491N | 2 |
chr23:55042082-55042082 | p.G366A | 2 |
chr23:55047668-55047668 | p.K152M | 2 |
chr23:55039970-55039970 | p.R517C | 2 |
chr23:55044078-55044078 | p.A282T | 2 |
chr23:55042055-55042055 | p.R375H | 2 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 2 | 5 | 1 | 11 |   |   | 4 |   | 4 |   |   | 5 |   | 2 | 1 |   | 4 | 4 |   | 6 |
# mutation | 2 | 5 | 1 | 10 |   |   | 4 |   | 4 |   |   | 5 |   | 2 | 1 |   | 4 | 4 |   | 10 |
nonsynonymous SNV |   | 4 | 1 | 8 |   |   | 4 |   | 4 |   |   |   |   | 1 | 1 |   | 3 | 3 |   | 8 |
synonymous SNV | 2 | 1 |   | 2 |   |   |   |   |   |   |   | 5 |   | 1 |   |   | 1 | 1 |   | 2 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chrX:55039970 | p.R338C,ALAS2 | 2 |
chrX:55042056 | p.R480C,ALAS2 | 2 |
chrX:55046845 | p.I300I,ALAS2 | 2 |
chrX:55042168 | p.A207V,ALAS2 | 2 |
chrX:55043923 | p.M492L,ALAS2 | 1 |
chrX:55047576 | p.R338H,ALAS2 | 1 |
chrX:55039950 | p.V156F,ALAS2 | 1 |
chrX:55051268 | p.R22T | 1 |
chrX:55041426 | p.S488I,ALAS2 | 1 |
chrX:55043972 | p.K152K,ALAS2 | 1 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for ALAS2 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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AHSP,ALAS2,ANO7,CA1,DMRTC1B,DUSP26,EPHA6, GSC,GYPB,HBA1,HBA2,HBB,HBD,HBG1, HBG2,HBM,SLC4A1,SPAG17,TSHZ1,ZADH2,ZCCHC13 | AADACL3,AHSP,ALAS2,ARHGAP20,CA1,CLEC1B,DAND5, DRD1,GFI1B,HBA1,HBB,HBD,IFIT1B,KRTAP21-2, LCE6A,LIMS3-LOC440895,LOC283914,MSC,PCDHAC1,SLC4A1,SSC4D | ||||
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ADIPOQ,ALAS2,ANGPTL5,AQP7,CD300LG,CD36,EPB42, HBA2,HBB,LBP,LEP,LIPE,MRAP,PCOLCE2, PLIN4,PTCHD3,SCGB3A2,SGCG,SLC4A1,TAAR1,TTTY9B | ALAS2,LINC00596,SCP2D1,CLDN6,CNGB1,GAL,HBA1, HELT,LOC157627,ANKRD30BL,ODF4,PAPL,PFN3,SLC4A1, SNORA64,SNORA74A,SNORD94,SPATA21,tAKR,TRIM67,USP26 |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for ALAS2 |
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DB Category | DB Name | DB's ID and Url link |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00145 | aminolevulinate, delta-, synthase 2 | approved; nutraceutical | Glycine | ![]() | ![]() |
DB00114 | aminolevulinate, delta-, synthase 2 | nutraceutical | Pyridoxal Phosphate | ![]() | ![]() |
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Cross referenced IDs for ALAS2 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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