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 AAAS
Basic gene info.Gene symbolAAAS
Gene nameachalasia, adrenocortical insufficiency, alacrimia
SynonymsAAA|AAASb|ADRACALA|ADRACALIN|ALADIN
CytomapUCSC genome browser: 12q13
Genomic locationchr12 :53701239-53715412
Type of geneprotein-coding
RefGenesNM_001173466.1,
NM_015665.5,
Ensembl idENSG00000094914
DescriptionAllgrove, triple-Aaladin
Modification date20141207
dbXrefs MIM : 605378
HGNC : HGNC
Ensembl : ENSG00000094914
HPRD : 05646
Vega : OTTHUMG00000169729
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AAAS
BioGPS: 8086
Gene Expression Atlas: ENSG00000094914
The Human Protein Atlas: ENSG00000094914
PathwayNCI Pathway Interaction Database: AAAS
KEGG: AAAS
REACTOME: AAAS
ConsensusPathDB
Pathway Commons: AAAS
MetabolismMetaCyc: AAAS
HUMANCyc: AAAS
RegulationEnsembl's Regulation: ENSG00000094914
miRBase: chr12 :53,701,239-53,715,412
TargetScan: NM_001173466
cisRED: ENSG00000094914
ContextiHOP: AAAS
cancer metabolism search in PubMed: AAAS
UCL Cancer Institute: AAAS
Assigned class in ccmGDBC

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Phenotypic Information for AAAS(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: AAAS
Familial Cancer Database: AAAS
* 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_METABOLISM_OF_NON_CODING_RNA
REACTOME_METABOLISM_OF_RNA
REACTOME_METABOLISM_OF_CARBOHYDRATES

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

Mutations for AAAS
* 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

- Statistics for Tissue and Mutation typeTop
- For Inter-chromosomal Variations
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'.
- For Intra-chromosomal Variations
There's no intra-chromosomal structural variation.
SampleSymbol_aChr_aStart_aEnd_aSymbol_bChr_bStart_bEnd_b
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract)

check002.gifRelated fusion transcripts : go to Chitars2.0
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows AAAS related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a
AW205219AAAS1767125370124053701290FKBP66638277273839572738711
AI755186AAAS2191125370124453701314C15orf3984406157549888275499204
AW794716AAAS26324125370136353701914MAOB316496X4362625243626432
AI523835AAAS876125370124653701314ZNF414724911985766258577581
BQ301032AAAS6181125371482453715001KDM2A173519116690127966901623
BQ327397ATP2A23821612110783843110784104AAAS201569125370207953703008

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
There's no copy number variation information in COSMIC data for this gene.

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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=37)
Stat. for Synonymous SNVs
(# total SNVs=9)
Stat. for Deletions
(# total SNVs=3)
Stat. for Insertions
(# total SNVs=1)

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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
chr12:53702751-53702751p.R330H2
chr12:53702114-53702114p.S401T2
chr12:53701433-53701433p.F494C2
chr12:53703424-53703424p.R258fs*332
chr12:53703435-53703435p.P254S2
chr12:53702089-53702090p.E409fs*171
chr12:53708552-53708552p.R176R1
chr12:53709211-53709211p.?1
chr12:53701431-53701431p.S495C1
chr12:53708083-53708083p.R230*1

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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
# sample 3 41 3 3  421  65 6
# mutation 3 41 4 3  421  125 6
nonsynonymous SNV 2 3  4 1  31   44 6
synonymous SNV 1 11   2  111  81  
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
chr12:53702751p.R297H,AAAS2
chr12:53702559p.R445Q,AAAS1
chr12:53708115p.T258T,AAAS1
chr12:53701431p.C80F,AAAS1
chr12:53709521p.S438S,AAAS1
chr12:53702561p.L206L,AAAS1
chr12:53708119p.R66I,AAAS1
chr12:53701481p.A435V,AAAS1
chr12:53714361p.T196T,AAAS1
chr12:53702566p.P58P,AAAS1

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 AAAS 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 AAAS

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

AAAS,ANKS3,ATP5G2,BLOC1S1,C12orf10,CCDC101,CCDC24,
E4F1,INO80E,MCRS1,NDUFA2,NABP2,OGFOD2,PFDN5,
POLL,RHOT2,SMUG1,SPSB3,TARBP2,UBXN11,WIBG
AAAS,CARKD,CCDC22,COQ4,CPSF3L,DDX41,DDX56,
DMAP1,DNAJC4,DRG2,ERCC1,HMG20B,NPRL2,POMT1,
PTOV1,TMEM161A,TMEM186,WBP1,WRAP53,XAB2,ZFYVE19

AAAS,C12orf10,C17orf53,CNPY2,DDX54,MCRS1,METTL1,
NOC4L,NABP2,PA2G4,PCBP2,PUS1,SARS2,SRSF9,
SNRPA,SNRPF,TARBP2,TIMELESS,TROAP,TSFM,TUBA1B
AAAS,ACAD9,C17orf53,ARHGEF39,CDH24,CHTF18,EXOSC10,
FOXM1,INTS9,KAT2A,KIF18B,MTHFD1,NCAPD3,POLD2,
RAD54L,SNRPA,SSRP1,SUV39H1,TARS2,TELO2,TRAP1
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 AAAS


There's no related Drug.
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Cross referenced IDs for AAAS
* 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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