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 EIF1AX

Basic gene info.	Gene symbol	EIF1AX
	Gene name	eukaryotic translation initiation factor 1A, X-linked
	Synonyms	EIF1A\|EIF1AP1\|EIF4C\|eIF-1A\|eIF-4C
	Cytomap	UCSC genome browser: Xp22.12
	Genomic location	chrX :20142635-20159966
	Type of gene	protein-coding
	RefGenes	NM_001412.3,
	Ensembl id	ENSG00000173674
	Description	Putative eukaryotic translation initiation factor 1AeIF-1A X isoformeukaryotic translation initiation factor 1A, X chromosomeeukaryotic translation initiation factor 1A, X-chromosomaleukaryotic translation initiation factor 4C
	Modification date	20141207
dbXrefs	MIM : 300186
	HGNC : HGNC
	Ensembl : ENSG00000173674
	HPRD : 02174
	Vega : OTTHUMG00000022704
Protein	UniProt: P47813 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_EIF1AX
	BioGPS: 1964
	Gene Expression Atlas: ENSG00000173674
	The Human Protein Atlas: ENSG00000173674
Pathway	NCI Pathway Interaction Database: EIF1AX
	KEGG: EIF1AX
	REACTOME: EIF1AX
	ConsensusPathDB
	Pathway Commons: EIF1AX
Metabolism	MetaCyc: EIF1AX
	HUMANCyc: EIF1AX
Regulation	Ensembl's Regulation: ENSG00000173674
	miRBase: chrX :20,142,635-20,159,966
	TargetScan: NM_001412
	cisRED: ENSG00000173674
Context	iHOP: EIF1AX
	cancer metabolism search in PubMed: EIF1AX
	UCL Cancer Institute: EIF1AX
Assigned class in ccmGDB	B - This gene belongs to cancer gene.

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Phenotypic Information for EIF1AX(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: EIF1AX
	Familial Cancer Database: EIF1AX

* 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 THCA ⁶,	Therapeutic Vulnerabilities in Cancer⁷

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,
6 http://www.sciencedirect.com/science/article/pii/S0092867414012380,
7Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/

Metabolic Pathway Description
REACTOME_METABOLISM_OF_PROTEINS

Others
OMIM	300186; gene.
Orphanet
Disease	KEGG Disease: EIF1AX
	MedGen: EIF1AX (Human Medical Genetics with Condition)
	ClinVar: EIF1AX
Phenotype	MGI: EIF1AX (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: EIF1AX

Mutations for EIF1AX

* 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 EIF1AX 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

BQ436116

GLIS2

241

4388133

4388373

EIF1AX

242

836

20144300

20144883

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=22)	Stat. for Synonymous SNVs (# total SNVs=4)

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
chr23:20156719-20156719	p.R13H	3
chr23:20148634-20148634	p.D143D	2
chr23:20152120-20152120	p.W70C	2
chr23:20156731-20156731	p.G9D	2
chr23:20156742-20156742	p.?	2
chr23:20150342-20150342	p.E99*	2
chr23:20156713-20156713	p.G15D	2
chr23:20159755-20159755	p.P2S	2
chr23:20156729-20156729	p.K10E	2
chr23:20148683-20148683	p.D127A	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			1					1		3					2	1	4	5
# mutation		1			1					1		3					2	1	4	4
nonsynonymous SNV		1								1		3					2	1	4	4
synonymous SNV					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
chrX:20156719	p.R13H	3
chrX:20148634	p.G9R	1
chrX:20148683	p.D143D	1
chrX:20156723	p.G8R	1
chrX:20148716	p.D127A	1
chrX:20156729	p.K7R	1
chrX:20148725	p.N116S	1
chrX:20156731	p.P2S	1
chrX:20150322	p.A113V	1
chrX:20156732	p.A105A	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 EIF1AX 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 EIF1AX

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


API5,CTPS2,CXorf23,DDX3X,EIF1AX,EIF2S3,KLHL15, LIN7C,LRRC58,MBTPS2,MED14,PCNP,POLA1,RLIM, STAG2,SYAP1,TCEANC,THAP5,TRAPPC2,TXLNG,USP9X	BRMS1L,C11orf58,MZT1,C5orf22,CCDC91,COX11,EIF1AX, MOB4,NDFIP2,PCNP,RCHY1,RWDD4,SCOC,SMNDC1, SYPL1,TAF9B,UBE2D3,VAPA,VTA1,YAF2,ZNF639

APOO,ARSE,CTPS2,EIF1AX,EIF2S3,FAM104B,FUNDC1, GEMIN8,HDHD1,MED14,JPX,PNPLA4,PRDX4,PRPS2, RAB9A,RBBP7,RPS4X,SYAP1,TRAPPC2,UXT,VBP1	BTF3,TMEM230,CWC15,DPH5,EEF1A1P9,EIF1AX,EIF3E, FAM200A,FUNDC1,GGPS1,METTL9,CMC4,OLA1,ORC5, RPL14,RPL7,RPL7A,RPS4X,RSL1D1,TATDN1,ZFAND1

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 EIF1AX

There's no related Drug.

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Cross referenced IDs for EIF1AX

* 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