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 ETF1

Basic gene info.	Gene symbol	ETF1
	Gene name	eukaryotic translation termination factor 1
	Synonyms	D5S1995\|ERF\|ERF1\|RF1\|SUP45L1\|TB3-1
	Cytomap	UCSC genome browser: 5q31.1
	Genomic location	chr5 :137841781-137878989
	Type of gene	protein-coding
	RefGenes	NM_001256302.1, NM_001282185.1,NM_001291974.1,NM_001291975.1,NM_004730.3,
	Ensembl id	ENSG00000120705
	Description	eukaryotic peptide chain release factor subunit 1polypeptide chain release factor 1protein Cl1sup45 (yeast omnipotent suppressor 45) homolog-like 1
	Modification date	20141207
dbXrefs	MIM : 600285
	HGNC : HGNC
	Ensembl : ENSG00000120705
	HPRD : 02616
	Vega : OTTHUMG00000129199
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ETF1
	BioGPS: 2107
	Gene Expression Atlas: ENSG00000120705
	The Human Protein Atlas: ENSG00000120705
Pathway	NCI Pathway Interaction Database: ETF1
	KEGG: ETF1
	REACTOME: ETF1
	ConsensusPathDB
	Pathway Commons: ETF1
Metabolism	MetaCyc: ETF1
	HUMANCyc: ETF1
Regulation	Ensembl's Regulation: ENSG00000120705
	miRBase: chr5 :137,841,781-137,878,989
	TargetScan: NM_001256302
	cisRED: ENSG00000120705
Context	iHOP: ETF1
	cancer metabolism search in PubMed: ETF1
	UCL Cancer Institute: ETF1
Assigned class in ccmGDB	C

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Phenotypic Information for ETF1(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: ETF1
	Familial Cancer Database: ETF1

* 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_PROTEINS REACTOME_METABOLISM_OF_MRNA REACTOME_METABOLISM_OF_RNA

Others
OMIM
Orphanet
Disease	KEGG Disease: ETF1
	MedGen: ETF1 (Human Medical Genetics with Condition)
	ClinVar: ETF1
Phenotype	MGI: ETF1 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: ETF1

Mutations for ETF1

* 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
pancreas	ETF1	chr5	137850104	137850124	ETF1	chr5	137850276	137850296

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 ETF1 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
BG534374	HLA-E	2	256	6	1789579	1789963	ETF1	249	621	5	137846830	137848637
DB041334	LOC100507412	1	148	?	112032	112179	ETF1	149	447	5	137854497	137878920

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=5

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=31)	Stat. for Synonymous SNVs (# total SNVs=7)

Stat. for Deletions (# total SNVs=0)	Stat. for Insertions (# total SNVs=0)
There's no deleted snv.	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
chr5:137854398-137854398	p.L82P	4
chr5:137846256-137846256	p.E361Q	2
chr5:137846839-137846839	p.V305I	2
chr5:137853275-137853275	p.L126S	2
chr5:137854434-137854434	p.S70L	1
chr5:137848455-137848455	p.Q244*	1
chr5:137853276-137853276	p.L126L	1
chr5:137844008-137844008	p.L434F	1
chr5:137846286-137846286	p.E351*	1
chr5:137854525-137854525	p.P40S	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=4

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	1		15	2		2		1		1		2	2			3	5	1	6
# mutation	2	1		12	2		2		1		1		2	2			3	5	1	7
nonsynonymous SNV	2	1		9			2		1		1		2	1			2	3	1	6
synonymous SNV				3	2									1			1	2		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
chr5:137854398	p.L68P,ETF1	4
chr5:137846839	p.E347Q,ETF1	2
chr5:137853275	p.L112S,ETF1	2
chr5:137846256	p.V291I,ETF1	2
chr5:137846306	p.F417F,ETF1	1
chr5:137848611	p.E255Q,ETF1	1
chr5:137854397	p.E416E,ETF1	1
chr5:137844008	p.L222R,ETF1	1
chr5:137849377	p.S63F,ETF1	1
chr5:137844015	p.R400W,ETF1	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 ETF1 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 ETF1

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


AFF4,CDC23,CLINT1,CSNK1A1,DDX46,ETF1,FBXW11, G3BP1,GRPEL2,HSPA4,HSPA9,LARS,MATR3,PHAX, RARS,RBM27,SEC24A,SRFBP1,UTP15,WDR36,YIPF5	AKIRIN1,BAG5,DTD2,MIR22HG,AAED1,CDV3,DCTN6, DEGS1,DNAJC25,DPH3,EIF2S1,ETF1,HAUS2,MAPRE1, PPP2CB,PWP1,RNF11,SBDSP1,STRAP,UBQLN1,YWHAZ

CDC23,CSNK1A1,ETF1,G3BP1,HARS,HDAC3,HSPA4, HSPA9,IPO11,MRPS27,NPM1,PPP2CA,RARS,RBM27, RIOK2,SLC30A5,TMEM161B,UBE2D2,UTP15,VDAC1,WDR36	AEN,CD55,DDX21,DNTTIP2,DPY19L1,EIF3J,ETF1, GNL2,GPATCH4,GTPBP4,IBTK,NAA50,NOL10,ODC1, PIGW,PSMD12,PSME3,RRS1,SERPINB8,SLC25A32,UBQLN1

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 ETF1

There's no related Drug.

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Cross referenced IDs for ETF1

* 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