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 ELOVL5

Basic gene info.	Gene symbol	ELOVL5
	Gene name	ELOVL fatty acid elongase 5
	Synonyms	HELO1\|SCA38\|dJ483K16.1
	Cytomap	UCSC genome browser: 6p21.1-p12.1
	Genomic location	chr6 :53132195-53213977
	Type of gene	protein-coding
	RefGenes	NM_001242828.1, NM_001242830.1,NM_001242831.1,NM_001301856.1,NM_021814.4,
	Ensembl id	ENSG00000012660
	Description	3-keto acyl-CoA synthase ELOVL5ELOVL FA elongase 5ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)elongation of very long chain fatty acids protein 5fatty acid elongase 1homolog of yeast long chain polyun
	Modification date	20141212
dbXrefs	MIM : 611805
	HGNC : HGNC
	Ensembl : ENSG00000012660
	HPRD : 13268
	Vega : OTTHUMG00000016249
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ELOVL5
	BioGPS: 60481
	Gene Expression Atlas: ENSG00000012660
	The Human Protein Atlas: ENSG00000012660
Pathway	NCI Pathway Interaction Database: ELOVL5
	KEGG: ELOVL5
	REACTOME: ELOVL5
	ConsensusPathDB
	Pathway Commons: ELOVL5
Metabolism	MetaCyc: ELOVL5
	HUMANCyc: ELOVL5
Regulation	Ensembl's Regulation: ENSG00000012660
	miRBase: chr6 :53,132,195-53,213,977
	TargetScan: NM_001242828
	cisRED: ENSG00000012660
Context	iHOP: ELOVL5
	cancer metabolism search in PubMed: ELOVL5
	UCL Cancer Institute: ELOVL5
Assigned class in ccmGDB	C

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Phenotypic Information for ELOVL5(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: ELOVL5
	Familial Cancer Database: ELOVL5

* 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

Others
OMIM
Orphanet
Disease	KEGG Disease: ELOVL5
	MedGen: ELOVL5 (Human Medical Genetics with Condition)
	ClinVar: ELOVL5
Phenotype	MGI: ELOVL5 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: ELOVL5

Mutations for ELOVL5

* 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

- Statistics for Tissue and Mutation type

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- For Inter-chromosomal Variations

There's no inter-chromosomal structural variation.

- For Intra-chromosomal Variations

* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'.

Sample	Symbol_a	Chr_a	Start_a	End_a	Symbol_b	Chr_b	Start_b	End_b
ovary	ELOVL5	chr6	53145522	53145542	ELOVL5	chr6	53158858	53158878
pancreas	ELOVL5	chr6	53150613	53150633		chr6	1213284	1213304
pancreas	ELOVL5	chr6	53169370	53169390		chr6	53065657	53065677

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)

Related fusion transcripts : go to Chitars2.0

* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ELOVL5 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
DB155046	MTERF	1	332	7	91503483	91503814	ELOVL5	332	589	6	53156675	53213719
AV686607	USF1	1	91	1	161013096	161014737	ELOVL5	84	331	6	53132572	53132882
BM827569	CYBA	26	304	16	88712556	88714522	ELOVL5	299	589	6	53156583	53213660
BE929601	ELOVL5	4	138	6	53133036	53133172	SGIP1	139	158	1	67175153	67175172
BF096087	DDX5	20	249	17	62499050	62499369	ELOVL5	248	549	6	53138076	53141039
BE929559	ELOVL5	20	156	6	53133033	53133172	SGIP1	157	176	1	67175153	67175172

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

Mutation type/ Tissue ID

brca

cns

cerv

endome

haematopo

kidn

Lintest

liver

lung

ovary

pancre

prost

skin

stoma

thyro

urina

Total # sample

GAIN (# sample)

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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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=2

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=20)	Stat. for Synonymous SNVs (# total SNVs=8)

Stat. for Deletions (# total SNVs=1)	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
chr6:53135507-53135507	p.I214V	2
chr6:53160476-53160476	p.L8I	2
chr6:53139937-53139937	p.S149S	2
chr6:53141056-53141056	p.?	2
chr6:53134010-53134010	p.G272A	2
chr6:53140047-53140047	p.L113I	1
chr6:53160459-53160459	p.K13N	1
chr6:53140066-53140066	p.?	1
chr6:53160466-53160466	p.Y11C	1
chr6:53138102-53138102	p.L179L	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=2

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	3		3			2		1			1	1				1	2	1	3
# mutation	2	3		3			2		1			1	2				1	2	1	3
nonsynonymous SNV	1	2		3			1		1				2				1	2		2
synonymous SNV	1	1					1					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
chr6:53134010	p.W230C,ELOVL5	2
chr6:53160459	p.Y92C,ELOVL5	1
chr6:53139925	p.L70F,ELOVL5	1
chr6:53160466	p.L258L,ELOVL5	1
chr6:53139937	p.P34P,ELOVL5	1
chr6:53160487	p.W237R	1
chr6:53139965	p.R22T,ELOVL5	1
chr6:53133926	p.K13N,ELOVL5	1
chr6:53139983	p.Y250F,ELOVL5	1
chr6:53133991	p.Y11C,ELOVL5	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 ELOVL5 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 ELOVL5

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


AHCYL1,ANKHD1-EIF4EBP3,C1orf21,KIAA0825,DNAJC16,ELOVL5,FAM114A2, FOXA1,GLUL,HNRNPH2,FAM214A,LOC728606,LRIG1,MCCC2, NUDT12,PIGV,SIAE,SPATA6,SPG11,TMEM26,XBP1	ACOT4,AHCYL1,ANO10,APBB2,BNIP3L,C8orf34,ELOVL5, GCLC,GPAM,HNMT,HSD17B4,IDH1,ISOC1,GSE1, ME1,PBLD,PNPLA3,RNF14,SLC25A16,TMEM135,TTC39C

ADAM17,AKAP2,ASAP1,ELOVL5,FADS1,HDGFRP3,KIAA1586, MSANTD4,MAP3K7,MAPRE1,NUP160,PALM2-AKAP2,PTPN1,RBL1, RBMS1,RDX,RECQL,SGTB,STK4,TMEM170B,VASH2	C1orf216,CADM4,CLIP4,DEGS1,DENND5A,EFEMP2,ELOVL5, FIBIN,GNAI2,GUCY1A3,KLHL5,MRAS,NCALD,SLC9B2, PRNP,QKI,RAB31,RHOQ,SPG20,SULF1,ZCCHC24

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 ELOVL5

There's no related Drug.

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Cross referenced IDs for ELOVL5

* 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