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 GNAS
Basic gene info.Gene symbolGNAS
Gene nameGNAS complex locus
SynonymsAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PHP1A|PHP1B|PHP1C|POH
CytomapUCSC genome browser: 20q13.3
Genomic locationchr20 :57466425-57486250
Type of geneprotein-coding
RefGenesNM_000516.4,
NM_001077488.2,NM_001077489.2,NM_001077490.1,NM_016592.2,
NM_080425.2,NM_080426.2,NR_003259.1,
Ensembl idENSG00000087460
Descriptionadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1guanine nucleotide regulatory proteinguanine nuc
Modification date20141207
dbXrefs MIM : 139320
HGNC : HGNC
Ensembl : ENSG00000087460
HPRD : 00761
Vega : OTTHUMG00000033069
ProteinUniProt: O95467
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GNAS
BioGPS: 2778
Gene Expression Atlas: ENSG00000087460
The Human Protein Atlas: ENSG00000087460
PathwayNCI Pathway Interaction Database: GNAS
KEGG: GNAS
REACTOME: GNAS
ConsensusPathDB
Pathway Commons: GNAS
MetabolismMetaCyc: GNAS
HUMANCyc: GNAS
RegulationEnsembl's Regulation: ENSG00000087460
miRBase: chr20 :57,466,425-57,486,250
TargetScan: NM_000516
cisRED: ENSG00000087460
ContextiHOP: GNAS
cancer metabolism search in PubMed: GNAS
UCL Cancer Institute: GNAS
Assigned class in ccmGDBB - This gene belongs to cancer gene.

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Phenotypic Information for GNAS(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: GNAS
Familial Cancer Database: GNAS
* 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
REACTOME_INTEGRATION_OF_ENERGY_METABOLISM

check002.gifOthers
OMIM 139320; gene+phenotype.
219080; phenotype.
603233; phenotype.
Orphanet
DiseaseKEGG Disease: GNAS
MedGen: GNAS (Human Medical Genetics with Condition)
ClinVar: GNAS
PhenotypeMGI: GNAS (International Mouse Phenotyping Consortium)
PhenomicDB: GNAS

Mutations for GNAS
* 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 GNAS related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a
BP430864GNAS14179205748442657484792FHIT16918935978443059784450
BU783722SKA2855175723248957232536GNAS52603205747066657484752
CB111624ENC1122157393613073936350GNAS220349205747066757478638
BQ308361GNAS1190205748538857485748EAF18954631546929615475990
BP430141ALG6735616383654363868001GNAS354415205748611157486172
BC020762FGB19324155484167155490429GNAS9281599205748503957486243
BU159042LOC100130331161561238090260238090399GNAS150535205748585857486243
CA405937ZBTB2011683114693211114819136GNAS165498205747066557480476
BU789739GNAS16515205748573757486236CHMP2A515612195906635459066451
CA433888NDUFS61891518160891816162GNAS87296205748543157485921
BM802817WDR3311392128568583128568721GNAS136976205747066657485430
BE171170GNAS26209205748460957485042GNAS203268205748507057485136
BF934290TUBGCP31317813113200013113200178GNAS178310205748505057485434
BU960781GNAS175241205748602457486090GNAS235410205748607257486247
BG992511KIAA0319L3031513599726835997554GNAS310580205747877257484447
CN315171IRF33442195016430550164744GNAS438749205747805557478366
BF339151GNAS42148205748574657485852GNAS146554205748583857486247
BF354702GNAS19107205747650557476593GNAS102330205747513657475363
AB023182GNAS188205747221157472298STK38L865181122739707827478888
AW377567LAPTM4A142222023410320240703GNAS418655205748457757485064
AA773408PTGS112039125155143125155344GNAS203422205747093057471148
CN403028HAPLN1114358301660683016748GNAS140600205747066557484459
BU070138GNAS39276205748504557485815TRIM612775224165878136165878381
BQ720919GNAS1167205746651457466681GNAS158367205746676757470722
CV809249LOC728190183108904819789086413GNAS70469205747065957480532
BF087649HEG112513124756747124756997GNAS251491205748447357485060
BP388116PTPRN12132220154365220154577GNAS214311205748599057486087
BP249353CUX114607101813761101838885GNAS458581205747066657478633

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 # sample3     1          
GAIN (# sample)3                
LOSS (# sample)      1          
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=853

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check002.gifSomatic Mutation Counts per Tissue in COSMIC data
Stat. for Non-Synonymous SNVs
(# total SNVs=645)		Stat. for Synonymous SNVs
(# total SNVs=13)
Stat. for Deletions
(# total SNVs=0)		Stat. for Insertions
(# total SNVs=3)
There's no deleted 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
chr20:57484420-57484420p.R201C436
chr20:57484421-57484421p.R201H309
chr20:57484596-57484596p.Q227L25
chr20:57485134-57485134p.D323A11
chr20:57484597-57484597p.Q227H8
chr20:57478836-57478836p.D141G6
chr20:57480483-57480483p.R160C6
chr20:57480494-57480494p.Y163*5
chr20:57485819-57485819p.R374C4
chr20:57485864-57485864p.R389C3

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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=5

Point Mutation/ Tissue ID1234567891011121314151617181920
# sample53 262 5 4  19113112322320
# mutation53 223 6 4  19113112728327
nonsynonymous SNV43 183 6 3  14721 2123325
synonymous SNV1  4    1  541 165 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
chr20:57478836p.D126G,GNAS5
chr20:57429085p.S193L3
chr20:57428501p.R341C,GNAS2
chr20:57429123p.P206S,GNAS2
chr20:57484238p.F107F2
chr20:57485424p.R359C,GNAS2
chr20:57474005p.R374C,GNAS2
chr20:57415590p.A50A2
chr20:57484420p.R145C,GNAS2
chr20:57415311p.R244C2

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 GNAS 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 GNAS

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

ATP5E,CMC2,CDK2AP1,FAM127B,GNAS,KRTCAP2,MPV17,
NDUFB4,NUTF2,PFDN2,PFDN4,RAB22A,SHFM1,SLMO2,
STX16,TFAP2C,NELFCD,THOC7,TMEM189,UBE2C,UBE2V1		ATP5A1,ATP5C1,ATP5F1,C14orf2,TMEM261,COX6B1,COX8A,
GNAS,MDH2,MRPL37,MRPS18B,MRPS24,NDUFA7,NDUFA8,
NDUFB11,NDUFB9,NDUFS3,PDCD2L,POLDIP2,SLC25A3,UQCR10

ADNP,ATP5E,GID8,RTFDC1,CSTF1,CTNNBL1,DDX27,
DNMT3B,ETNK2,GNAS,MEX3A,MOCS3,PCIF1,PCMTD2,
PFDN4,PRPF6,RAE1,SLC2A4RG,SNHG11,NELFCD,UBE2V1		ABHD8,ENKD1,CCDC103,DPF2,EMILIN3,FAM117A,GNAS,
LIX1L,MAGED4B,MYO16,LINC00094,NRM,PFKM,PJA1,
PKN1,RGS9BP,SOX12,TAF6,UFSP2,USP27X,USP44
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 GNAS
check002.gifCross-referenced pharmacological DB IDs from Uniprot
DB CategoryDB NameDB's ID and Url link
Organism-specific databasesPharmGKB PA175; -.
Organism-specific databasesCTD 2778; -.

check002.gifDrug-Gene Interaction Network
* Gene Centered Interaction Network.
* Drug Centered Interaction Network.
DrugBank IDTarget NameDrug GroupsGeneric NameDrug Centered NetworkDrug Structure
DB02587GNAS complex locusexperimentalForskolin
DB06843GNAS complex locusexperimental2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE
DB00515GNAS complex locusapprovedCisplatin
DB00544GNAS complex locusapprovedFluorouracil
DB00394GNAS complex locusapprovedBeclomethasone
DB00443GNAS complex locusapprovedBetamethasone
DB01222GNAS complex locusapproved; investigationalBudesonide
DB01410GNAS complex locusapproved; investigationalCiclesonide
DB01260GNAS complex locusapproved; investigationalDesonide
DB01234GNAS complex locusapproved; investigationalDexamethasone
DB00180GNAS complex locusapproved; investigationalFlunisolide
DB00588GNAS complex locusapproved; investigationalFluticasone Propionate
DB00741GNAS complex locusapprovedHydrocortisone
DB00959GNAS complex locusapprovedMethylprednisolone
DB00764GNAS complex locusapprovedMometasone
DB01384GNAS complex locusapprovedParamethasone
DB00860GNAS complex locusapprovedPrednisolone
DB00635GNAS complex locusapprovedPrednisone
DB00896GNAS complex locusapprovedRimexolone
DB00620GNAS complex locusapprovedTriamcinolone
DB00125GNAS complex locusapproved; nutraceuticalL-Arginine
DB00155GNAS complex locusapproved; nutraceuticalL-Citrulline
DB00435GNAS complex locusapprovedNitric Oxide
DB00988GNAS complex locusapprovedDopamine
DB00131GNAS complex locusapproved; nutraceuticalAdenosine monophosphate
DB00171GNAS complex locusapproved; nutraceuticalAdenosine triphosphate
DB00770GNAS complex locusapproved; investigationalAlprostadil
DB00668GNAS complex locusapprovedEpinephrine
DB00396GNAS complex locusapprovedProgesterone
DB01064GNAS complex locusapprovedIsoproterenol
DB01105GNAS complex locusillicit; approved; withdrawn; investigationalSibutramine
DB00938GNAS complex locusapprovedSalmeterol


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Cross referenced IDs for GNAS
* 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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