Cancer Cell Metabolism Database ~~ Bioinformatics and Systems Medicine Laboratory ~~

Cancer Cell Metabolism Gene Database

Cancer Cell Metabolism Gene DB

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	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 APOA1

Basic gene info.	Gene symbol	APOA1
	Gene name	apolipoprotein A-I
	Synonyms	-
	Cytomap	UCSC genome browser: 11q23-q24
	Genomic location	chr11 :116706468-116708338
	Type of gene	protein-coding
	RefGenes	NM_000039.1,
	Ensembl id	ENSG00000118137
	Description	apo-AI
	Modification date	20141222
dbXrefs	MIM : 107680
	HGNC : HGNC
	Ensembl : ENSG00000118137
	HPRD : 02517
	Vega : OTTHUMG00000046112
Protein	UniProt: P02647 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_APOA1
	BioGPS: 335
	Gene Expression Atlas: ENSG00000118137
	The Human Protein Atlas: ENSG00000118137
Pathway	NCI Pathway Interaction Database: APOA1
	KEGG: APOA1
	REACTOME: APOA1
	ConsensusPathDB
	Pathway Commons: APOA1
Metabolism	MetaCyc: APOA1
	HUMANCyc: APOA1
Regulation	Ensembl's Regulation: ENSG00000118137
	miRBase: chr11 :116,706,468-116,708,338
	TargetScan: NM_000039
	cisRED: ENSG00000118137
Context	iHOP: APOA1
	cancer metabolism search in PubMed: APOA1
	UCL Cancer Institute: APOA1
Assigned class in ccmGDB	A - This gene has a literature evidence and it belongs to cancer gene.
References showing role of APOA1 in cancer cell metabolism	1. Guo X, Hao Y, Kamilijiang M, Hasimu A, Yuan J, et al. (2015) Potential predictive plasma biomarkers for cervical cancer by 2D-DIGE proteomics and Ingenuity Pathway Analysis. Tumour Biol 36: 1711-1720. doi: 10.1007/s13277-014-2772-5. go to article

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Phenotypic Information for APOA1(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: APOA1
	Familial Cancer Database: APOA1

* 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/

Metabolic Pathway Description
REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS REACTOME_LIPOPROTEIN_METABOLISM

Others
OMIM	105200; phenotype. 107680; gene+phenotype. 205400; phenotype. 604091; phenotype.
Orphanet	314701; Primary systemic amyloidosis. 425; Apolipoprotein A-I deficiency. 93560; Familial renal amyloidosis due to Apolipoprotein AI variant.
Disease	KEGG Disease: APOA1
	MedGen: APOA1 (Human Medical Genetics with Condition)
	ClinVar: APOA1
Phenotype	MGI: APOA1 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: APOA1

Mutations for APOA1

* 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 APOA1 related fusion information.

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

BJ995037

APOA1

351

116707015

116708338

DRAP1

344

438

65686958

65687288

Other DBs for Structural Variants

Structural Variants in Ensembl: go to Ensembl Structural variation

Structural Variants in dbVar: go to dbVar

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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

: Non-synonymous mutation, : Synonymous mutation, Circle size denotes number of samples.
Maximum mutation count=3

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=17)	Stat. for Synonymous SNVs (# total SNVs=1)

Stat. for Deletions (# total SNVs=2)	Stat. for Insertions (# total SNVs=0)
	There's no inserted snv.

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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
chr11:116707013-116707013	p.G105G	3
chr11:116708063-116708063	p.T14M	2
chr11:116708076-116708076	p.V10M	2
chr11:116707832-116707832	p.Q29fs*7	2
chr11:116707841-116707841	p.E26K	1
chr11:116706799-116706799	p.R177C	1
chr11:116707098-116707098	p.V77A	1
chr11:116707873-116707873	p.G15V	1
chr11:116706800-116706800	p.A176A	1
chr11:116707117-116707117	p.L71I	1

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SNV Counts per Each Loci in TCGA data

: non-synonymous mutation, : synonymous mutation, Circle size denotes number of samples.
maximum mutation count=1

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		1		1								3					3	6		2
# mutation		1		1								4					3	6		2
nonsynonymous SNV				1								3					2	6		2
synonymous SNV		1										1					1

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
chr11:116706927	p.E94K	1
chr11:116707873	p.Q93P	1
chr11:116707048	p.R85L	1
chr11:116708093	p.V77A	1
chr11:116707050	p.L71I	1
chr11:116707074	p.S60S	1
chr11:116707098	p.D52D	1
chr11:116707117	p.S49N	1
chr11:116706556	p.K36N	1
chr11:116707737	p.E26K	1

Other 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

Copy Number for APOA1 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 APOA1

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.

: Open all plots for all cancer types

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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

: Open all plots for all cancer types


APCS,APOA1,APOA2,APOA4,APOC3,C3P1,C8A, C9,CREB3L3,CRP,F2,FABP1,FGF23,ITIH1, MT1B,PLG,SERPINA7,SERPINC1,SLC17A2,SULT2A1,TM4SF5	AP2S1,APOA1,ARPC5L,LBHD1___C11orf98,MIEN1,CFL1,CHCHD1, HM13,LENG9,MRPL17,MRPL27,MYEOV2,NR2F6,PPP1CA, PPP4C,PSMC4,REEP4,SAMD1,TMEM8A,TXNL4A,YIF1B

AFM,ALB,APOA1,APOA4,APOB,APOC3,APOH, CYP4F30P,CFHR2,CPO,FMO9P,GC,GP2,HRG, ITIH1,KCNJ13,MS4A10,PCDHA13,PCDHA1,PIK3C2G,VTN	AADAC,APOA1,APOA4,APOB,APOC3,C17orf78,CPO, CRISP1,FAM99A,FAM99B,GSTA5,KCNJ13,LCE3E,LOC388428, MOS,ONECUT3,OR10H1,OR10H5,OR4N5,PWAR4___F2RL3___PAWR,SPANXN3

Co-Expressed gene's Protein-protein interaction Network Plot

: Open all plots for all cancer types

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Interacting 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 APOA1

Cross-referenced pharmacological DB IDs from Uniprot

DB Category	DB Name	DB's ID and Url link
Chemistry	ChEMBL	CHEMBL5984; -.
Organism-specific databases	PharmGKB	PA49; -.
Organism-specific databases	CTD	335; -.

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
DB01039	apolipoprotein A-I	approved	Fenofibrate
DB00503	apolipoprotein A-I	approved; investigational	Ritonavir
DB00624	apolipoprotein A-I	approved; investigational	Testosterone

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Cross referenced IDs for APOA1

* 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