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 EIF4H

Basic gene info.	Gene symbol	EIF4H
	Gene name	eukaryotic translation initiation factor 4H
	Synonyms	WBSCR1\|WSCR1\|eIF-4H
	Cytomap	UCSC genome browser: 7q11.23
	Genomic location	chr7 :73588705-73611429
	Type of gene	protein-coding
	RefGenes	NM_022170.1, NM_031992.1,
	Ensembl id	ENSG00000263344
	Description	Williams-Beuren syndrome chromosome region 1
	Modification date	20141207
dbXrefs	MIM : 603431
	HGNC : HGNC
	Ensembl : ENSG00000106682
	HPRD : 11940
	Vega : OTTHUMG00000023025
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_EIF4H
	BioGPS: 7458
	Gene Expression Atlas: ENSG00000263344
	The Human Protein Atlas: ENSG00000263344
Pathway	NCI Pathway Interaction Database: EIF4H
	KEGG: EIF4H
	REACTOME: EIF4H
	ConsensusPathDB
	Pathway Commons: EIF4H
Metabolism	MetaCyc: EIF4H
	HUMANCyc: EIF4H
Regulation	Ensembl's Regulation: ENSG00000263344
	miRBase: chr7 :73,588,705-73,611,429
	TargetScan: NM_022170
	cisRED: ENSG00000263344
Context	iHOP: EIF4H
	cancer metabolism search in PubMed: EIF4H
	UCL Cancer Institute: EIF4H
Assigned class in ccmGDB	C

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Phenotypic Information for EIF4H(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: EIF4H
	Familial Cancer Database: EIF4H

* 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

Others
OMIM
Orphanet
Disease	KEGG Disease: EIF4H
	MedGen: EIF4H (Human Medical Genetics with Condition)
	ClinVar: EIF4H
Phenotype	MGI: EIF4H (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: EIF4H

Mutations for EIF4H

* 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	EIF4H	chr7	73589006	73589026	EIF4H	chr7	73589070	73589090

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 EIF4H 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
BM479877	EIF4H	1	107	7	73609854	73609960	H2AFY	100	879	5	134681668	134724788
BU540394	EIF4H	2	389	7	73610618	73611005	PKP3	384	605	11	404687	404908
CN419986	RSL1D1	1	595	16	11931660	11933835	EIF4H	588	765	7	73606366	73606543

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=2

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=14)	Stat. for Synonymous SNVs (# total SNVs=5)

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
chr7:73609165-73609165	p.P188P	2
chr7:73609537-73609537	p.R216*	2
chr7:73604022-73604022	p.F89F	2
chr7:73609623-73609623	p.Q244Q	1
chr7:73604023-73604023	p.D90N	1
chr7:73609094-73609094	p.G165R	1
chr7:73604036-73604036	p.S94F	1
chr7:73609136-73609136	p.P179A	1
chr7:73588723-73588723	p.F4V	1
chr7:73604047-73604047	p.A98P	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=3

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		4	2		1		1	1		1				1	2	5	1	3
# mutation		1		4	2		1		1	1		1				1	2	5	1	3
nonsynonymous SNV				2	2				1	1		1					2	3		2
synonymous SNV		1		2			1									1		2	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
chr7:73604022	p.F89F,EIF4H	3
chr7:73609165	p.P168P,EIF4H	2
chr7:73604047	p.F154F	1
chr7:73604058	p.R146K,EIF4H	1
chr7:73588723	p.R163H,EIF4H	1
chr7:73604186	p.F4V,EIF4H	1
chr7:73601945	p.E184Q,EIF4H	1
chr7:73604598	p.R22C,EIF4H	1
chr7:73601967	p.T200T,EIF4H	1
chr7:73604629	p.G29V,EIF4H	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 EIF4H 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 EIF4H

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


BAZ1B,BCL7B,CHN1,CLDN4,CRCP,EIF4H,GTF2I, KRT82,LIMK1,MDH2,POM121,POM121C,POR,PSMC2, RFC2,SBDSP1,SLC25A13,TBL2,WBSCR16,WBSCR22,YWHAG	AAMP,AATF,ARFGAP2,ARL6IP4,HYPK,OGFOD3,C6orf47, EIF4H,HARS,HIRIP3,HNRNPUL2,IK,NT5C,NUDC, PDAP1,PPM1G,SART1,SF3B2,TAF15,TSR2,UBXN1

ARPC1A,BAZ1B,BCL7B,COPS6,EIF4H,GNB2,GTF2I, LMTK2,MDH2,PAXIP1,PDAP1,POM121,POM121C,SLC25A13, TAF6,TNPO3,TRRAP,TYW1,YWHAG,ZKSCAN5,ZSCAN25	BRE,C10orf76,COL4A3BP,DDX6,DYNLL2,DYRK1A,EIF4H, HNRNPUL2,JAK1,KIAA1279,KIF1B,LARGE,MAPK1,PAFAH1B1, PARN,PPP2R3A,RAB3GAP1,RAD23B,RYBP,SUN2,TOX4

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 EIF4H

There's no related Drug.

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Cross referenced IDs for EIF4H

* 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