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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for GLA |
Basic gene info. | Gene symbol | GLA |
Gene name | galactosidase, alpha | |
Synonyms | GALA | |
Cytomap | UCSC genome browser: Xq22 | |
Genomic location | chrX :100652778-100663001 | |
Type of gene | protein-coding | |
RefGenes | NM_000169.2, | |
Ensembl id | ENSG00000268815 | |
Description | agalsidase alfaalpha-D-galactosidase Aalpha-D-galactoside galactohydrolase 1alpha-gal Aalpha-galactosidase Amelibiase | |
Modification date | 20141219 | |
dbXrefs | MIM : 300644 | |
HGNC : HGNC | ||
Ensembl : ENSG00000102393 | ||
HPRD : 02357 | ||
Vega : OTTHUMG00000022026 | ||
Protein | UniProt: P06280 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GLA | |
BioGPS: 2717 | ||
Gene Expression Atlas: ENSG00000268815 | ||
The Human Protein Atlas: ENSG00000268815 | ||
Pathway | NCI Pathway Interaction Database: GLA | |
KEGG: GLA | ||
REACTOME: GLA | ||
ConsensusPathDB | ||
Pathway Commons: GLA | ||
Metabolism | MetaCyc: GLA | |
HUMANCyc: GLA | ||
Regulation | Ensembl's Regulation: ENSG00000268815 | |
miRBase: chrX :100,652,778-100,663,001 | ||
TargetScan: NM_000169 | ||
cisRED: ENSG00000268815 | ||
Context | iHOP: GLA | |
cancer metabolism search in PubMed: GLA | ||
UCL Cancer Institute: GLA | ||
Assigned class in ccmGDB | B - This gene belongs to cancer gene. |
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Phenotypic Information for GLA(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: GLA |
Familial Cancer Database: GLA |
* This gene is included in those cancer gene databases. |
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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/ |
Metabolic Pathway Description | |
KEGG_GALACTOSE_METABOLISM KEGG_GLYCEROLIPID_METABOLISM KEGG_SPHINGOLIPID_METABOLISM REACTOME_GLYCOSPHINGOLIPID_METABOLISM REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_SPHINGOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
Others | |
OMIM | 300644; gene. 301500; phenotype. |
Orphanet | 324; Fabry disease. |
Disease | KEGG Disease: GLA |
MedGen: GLA (Human Medical Genetics with Condition) | |
ClinVar: GLA | |
Phenotype | MGI: GLA (International Mouse Phenotyping Consortium) |
PhenomicDB: GLA |
Mutations for GLA |
* 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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows GLA 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 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=44) | (# total SNVs=5) |
(# total SNVs=0) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* 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 |
chr23:100656792-100656792 | p.H125Q | 2 |
chr23:100652899-100652899 | p.F396L | 2 |
chr23:100652873-100652873 | p.S405I | 1 |
chr23:100662714-100662714 | p.P60S | 1 |
chr23:100653434-100653434 | p.K308R | 1 |
chr23:100653895-100653895 | p.R227* | 1 |
chr23:100658816-100658816 | p.R118C | 1 |
chr23:100652887-100652887 | p.T400T | 1 |
chr23:100662732-100662732 | p.L54I | 1 |
chr23:100653447-100653447 | p.S304C | 1 |
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SNV Counts per Each Loci in TCGA data |
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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 | 1 | 6 |   |   | 2 |   | 2 |   |   | 6 | 4 |   |   |   | 1 | 2 |   | 8 |
# mutation |   | 2 | 1 | 7 |   |   | 2 |   | 2 |   |   | 6 | 4 |   |   |   | 1 | 2 |   | 10 |
nonsynonymous SNV |   | 2 | 1 | 6 |   |   | 2 |   | 2 |   |   | 5 | 3 |   |   |   | 1 |   |   | 7 |
synonymous SNV |   |   |   | 1 |   |   |   |   |   |   |   | 1 | 1 |   |   |   |   | 2 |   | 3 |
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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Top 10 SNVs Having the Most Samples in TCGA data |
* 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:100652899 | p.F396L | 2 |
chrX:100658854 | p.E251E | 1 |
chrX:100662806 | p.D93H | 1 |
chrX:100653405 | p.W236C | 1 |
chrX:100655663 | p.Y88Y | 1 |
chrX:100658859 | p.Q212E | 1 |
chrX:100662836 | p.G80V | 1 |
chrX:100653424 | p.P210P | 1 |
chrX:100655688 | p.S65G | 1 |
chrX:100658873 | p.C202Y | 1 |
Other DBs for Point Mutations |
Copy Number for GLA in TCGA |
* 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. |
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 GLA |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* 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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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* 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 |
ARMCX1,ARMCX3,CLIC6,CYP2C8,FUT8,GLA,GLUL, HNRNPH2,LOC645431,LRIG1,MREG,MYB,MYBPC1,NMUR2, NXNL2,PDCD4,PTHLH,RUNX1,SEMA3C,SGK223,TMEM26 | ACMSD,AGR3,CLPSL2,CHST8,DEGS2,GLA,HSPA5, KCNK6,MTFP1,LINC00160,NLRP5,PVRL2,SCARNA22,SEC14L2, SERPINA11,SERPINA1,SERPINA3,SIAH2,SLC9A3R1,SNORA78,TMC3 | ||||
APEX2,CXorf40B,EMD,FTSJ1,GLA,HDAC8,LAS1L, MORF4L2,NAA10,NKRF,NSDHL,PDZD11,PRPS1,RBMX2, SLC25A14,SLC25A5,SUV39H1,TIMM8A,UBE2A,UBL4A,VBP1 | ABHD6,AKR1A1,ANPEP,ANXA4,APOBEC1,ARG2,FUOM, TMEM256,RTCB,IDNK,CA13,CBR1,FAM3B,GCHFR, GK,GK3P,GLA,GLRX,GOLT1A,HOXC9,MOCOS |
Co-Expressed gene's Protein-protein interaction Network Plot |
* 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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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for GLA |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | P06280; -. |
Chemistry | ChEMBL | CHEMBL2524; -. |
Organism-specific databases | PharmGKB | PA28707; -. |
Organism-specific databases | CTD | 2717; -. |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB02944 | galactosidase, alpha | experimental | Alpha-D-Mannose |
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Cross referenced IDs for GLA |
* 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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