Cancer Cell Metabolism Gene Database

  Cancer Cell Metabolism Gene DB

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Phenotypic Information (metabolism pathway, cancer, disease, phenome)

Mutations: SVs, CNVs, SNVs

Gene expression: GE, Protein, DEGE, CNV vs GE

Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG

Pharmacological Information: Drug-Gene Network

Cross referenced IDs

Gene Summary for GBA
Basic gene info.Gene symbolGBA
Gene nameglucosidase, beta, acid
SynonymsGBA1|GCB|GLUC
CytomapUCSC genome browser: 1q21
Genomic locationchr1 :155204238-155214653
Type of geneprotein-coding
RefGenesNM_000157.3,
NM_001005741.2,NM_001005742.2,NM_001171811.1,NM_001171812.1,
NM_001005749.1,NM_001005750.1,
Ensembl idENSG00000262446
DescriptionD-glucosyl-N-acylsphingosine glucohydrolaseacid beta-glucosidasealglucerasebeta-GCbeta-glucocerebrosidaseglucosylceramidaseglucosylceramidase-like proteinimigluceraselysosomal glucocerebrosidase
Modification date20141219
dbXrefs MIM : 606463
HGNC : HGNC
Ensembl : ENSG00000177628
HPRD : 06973
Vega : OTTHUMG00000035841
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GBA
BioGPS: 2629
Gene Expression Atlas: ENSG00000262446
The Human Protein Atlas: ENSG00000262446
PathwayNCI Pathway Interaction Database: GBA
KEGG: GBA
REACTOME: GBA
ConsensusPathDB
Pathway Commons: GBA
MetabolismMetaCyc: GBA
HUMANCyc: GBA
RegulationEnsembl's Regulation: ENSG00000262446
miRBase: chr1 :155,204,238-155,214,653
TargetScan: NM_000157
cisRED: ENSG00000262446
ContextiHOP: GBA
cancer metabolism search in PubMed: GBA
UCL Cancer Institute: GBA
Assigned class in ccmGDBC

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Phenotypic Information for GBA(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: GBA
Familial Cancer Database: GBA
* This gene is included in those cancer gene databases.

Oncogene 1

Tumor Suppressor gene 2

Cancer Gene Census 3

CancerGenes 4

Network of Cancer Gene 5

Significant driver gene in

Therapeutic Vulnerabilities in Cancer1

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/

check002.gifMetabolic Pathway Description
KEGG_SPHINGOLIPID_METABOLISM
REACTOME_GLYCOSPHINGOLIPID_METABOLISM
REACTOME_PHOSPHOLIPID_METABOLISM
REACTOME_SPHINGOLIPID_METABOLISM
REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

check002.gifOthers
OMIM
Orphanet
DiseaseKEGG Disease: GBA
MedGen: GBA (Human Medical Genetics with Condition)
ClinVar: GBA
PhenotypeMGI: GBA (International Mouse Phenotyping Consortium)
PhenomicDB: GBA

Mutations for GBA
* 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.

check002.gifStructural Variants in COSMIC: go to COSMIC mutation histogram
There's no structural variation information in COSMIC data for this gene.

check002.gifRelated fusion transcripts : go to Chitars2.0
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows GBA related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a

check002.gifOther DBs for Structural Variants
Structural Variants in Ensembl: go to Ensembl Structural variation
Structural Variants in dbVar: go to dbVar

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check002.gifCopy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr
 
Mutation type/ Tissue IDbrcacnscervendomehaematopokidnLintestliverlungnsovarypancreprostskinstomathyrourina
Total # sample   1             
GAIN (# sample)   1             
LOSS (# sample)                 
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract)

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check002.gifSNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation

 : Non-synonymous mutation, : Synonymous mutation, Circle size denotes number of samples.
Maximum mutation count=2

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check002.gifSomatic Mutation Counts per Tissue in COSMIC data
Stat. for Non-Synonymous SNVs
(# total SNVs=29)
Stat. for Synonymous SNVs
(# total SNVs=14)
Stat. for Deletions
(# total SNVs=1)
Stat. for Insertions
(# total SNVs=0)
There's no inserted snv.

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check002.gifTop 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 positionMutation(aa)Unique sampleID count
chr1:155206068-155206068p.R398*5
chr1:155208097-155208097p.I197V2
chr1:155210491-155210491p.L15F2
chr1:155207160-155207160p.R324H1
chr1:155209482-155209482p.A127T1
chr1:155207291-155207291p.L280F1
chr1:155209863-155209863p.R41C1
chr1:155205593-155205593p.A423S1
chr1:155208037-155208037p.P217S1
chr1:155207162-155207162p.Q323Q1

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check002.gifSNV Counts per Each Loci in TCGA data

 : non-synonymous mutation, : synonymous mutation, Circle size denotes number of samples.
maximum mutation count=2

Point Mutation/ Tissue ID1234567891011121314151617181920
# sample21 6  2 4  951  25 6
# mutation31 6  2 4  951  36 6
nonsynonymous SNV21 3  2 2  44   35 4
synonymous SNV1  3    2  511   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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check002.gifTop 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 PositionMutation(aa)Unique sampleID count
chr1:155207267p.Q236Q,GBA1
chr1:155208008p.A142A,GBA1
chr1:155206085p.L25L,GBA1
chr1:155209779p.Q236R,GBA1
chr1:155207269p.T139T,GBA1
chr1:155208036p.R17M,GBA1
chr1:155206139p.D235N,GBA1
chr1:155209863p.P130H,GBA1
chr1:155207291p.R229C,GBA1
chr1:155208037p.P130S,GBA1

check002.gifOther DBs for Point Mutations
Point Mutation Table of Ensembl: go to Ensembl variation table
Mutation of cBioPortal: go to cBioPortal's Cross-cancer alteration summary

check002.gifCopy Number for GBA 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 GBA

check002.gifGene 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.

check002.gifDifferential 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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check002.gifCNV vs Gene Expression Plot
* This plots show the correlation between CNV and gene expression.

: Open all plots for all cancer types


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Gene-Gene Network Information
check002.gifCo-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

: Open all plots for all cancer types

ADAM18,BAGE,C11orf53,NAT16,CLCA1,CT47A11,DDC,
FLJ25363,GBA3,HAND1,HTR2C,KCNA4,KCNK12,KRTAP9-4,
KRTAP9-9,LOC360030,POU4F2,RLN3,SEC14L3,SHH,SPANXA2
CDKN2AIP,GBA3,GUCA1C,KANSL1,KRTAP12-2,CERS3,MAP3K1,
MMS19,STK26,NKX6-2,OR4A47,OR52B2,OR6S1,OVCH2,
PARP16,PTPRZ1,SCN2A,SNHG1,TMCO6,WIF1,ZNF354A

AMPD1,ADTRP,CA2,CASR,CDKN2B-AS1,CYP2C18,DRD5,
DUSP21,ENPP6,GBA3,GPT,GUCA2B,HSD3B2,MEP1B,
MS4A12,NR1H4,OTOP2,SLC17A8,SLC25A34,SLC30A10,TMIGD1
ACE2,ANPEP,ADIRF,CHN2,FLVCR1,G6PC,GBA3,
SLC52A1,HEBP1,MEP1B,MS4A8,NAT8B,OTC,PCK2,
PEPD,PKLR,PTGR1,SLC17A8,SLC23A1,SLC6A4,AGMO
check002.gifCo-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

: Open all plots for all cancer types

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check002.gifInteracting Genes (from Pathway Commons)

: Open all interacting genes' information including KEGG pathway for all interacting genes from DAVID

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Pharmacological Information for GBA
check002.gifCross-referenced pharmacological DB IDs from Uniprot
DB CategoryDB NameDB's ID and Url link

check002.gifDrug-Gene Interaction Network
* Gene Centered Interaction Network.
* Drug Centered Interaction Network.
DrugBank IDTarget NameDrug GroupsGeneric NameDrug Centered NetworkDrug Structure
DB03106glucosidase, beta, acidexperimentalMyo-Inositol
DB03740glucosidase, beta, acidexperimental2-(Acetylamino)-2-Deoxy-a-D-Glucopyranose
DB08283glucosidase, beta, acidexperimental(2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL


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Cross referenced IDs for GBA
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section

: Open all cross reference information



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