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 POM121

Basic gene info.	Gene symbol	POM121
	Gene name	POM121 transmembrane nucleoporin
	Synonyms	P145\|POM121A
	Cytomap	UCSC genome browser: 7q11.23
	Genomic location	chr7 :72361471-72418843
	Type of gene	protein-coding
	RefGenes	NM_001257190.2, NM_172020.4,
	Ensembl id	ENSG00000262122
	Description	POM121 membrane glycoproteinnuclear envelope pore membrane protein POM 121nuclear envelope pore membrane protein POM 121Anuclear pore membrane protein 121 kDanucleoporin Nup121
	Modification date	20141207
dbXrefs	MIM : 615753
	HGNC : HGNC
	Ensembl : ENSG00000196313
	HPRD : 11448
	Vega : OTTHUMG00000023527
Protein	UniProt: Q96HA1 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_POM121
	BioGPS: 9883
	Gene Expression Atlas: ENSG00000262122
	The Human Protein Atlas: ENSG00000262122
Pathway	NCI Pathway Interaction Database: POM121
	KEGG: POM121
	REACTOME: POM121
	ConsensusPathDB
	Pathway Commons: POM121
Metabolism	MetaCyc: POM121
	HUMANCyc: POM121
Regulation	Ensembl's Regulation: ENSG00000262122
	miRBase: chr7 :72,361,471-72,418,843
	TargetScan: NM_001257190
	cisRED: ENSG00000262122
Context	iHOP: POM121
	cancer metabolism search in PubMed: POM121
	UCL Cancer Institute: POM121
Assigned class in ccmGDB	B - This gene belongs to cancer gene.

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Phenotypic Information for POM121(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: POM121
	Familial Cancer Database: POM121

* 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_NON_CODING_RNA REACTOME_METABOLISM_OF_RNA REACTOME_METABOLISM_OF_CARBOHYDRATES

Others
OMIM	615753; gene. 615753; gene.
Orphanet
Disease	KEGG Disease: POM121
	MedGen: POM121 (Human Medical Genetics with Condition)
	ClinVar: POM121
Phenotype	MGI: POM121 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: POM121

Mutations for POM121

* 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

* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'.

- For Intra-chromosomal Variations

There's no intra-chromosomal structural variation.

Sample	Symbol_a	Chr_a	Start_a	End_a	Symbol_b	Chr_b	Start_b	End_b
ovary	POM121	chr7	72393148	72393168	NCOR2	chr12	124842957	124842977

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 POM121 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
BF528396	TAPBPL	1	454	12	6574056	6579811	POM121	455	790	7	72419941	72420735
BM715257	POM121	1	358	7	72383860	72384217	POM121	358	611	7	72385037	72385290

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=7

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=58)	Stat. for Synonymous SNVs (# total SNVs=20)

Stat. for Deletions (# total SNVs=1)	Stat. for Insertions (# total SNVs=3)

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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
chr7:72413896-72413896	p.T857A	7
chr7:72413423-72413423	p.P699L	6
chr7:72413874-72413874	p.N849N	5
chr7:72413243-72413243	p.H639P	4
chr7:72413443-72413443	p.A706T	4
chr7:72412427-72412427	p.S367N	3
chr7:72413581-72413581	p.V752I	2
chr7:72413626-72413626	p.G767S	2
chr7:72416721-72416721	p.P968Q	2
chr7:72413539-72413539	p.P738T	2

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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	4	3	2	8	3		4		2	2		3	6	2		1	11	9	1	16
# mutation	4	3	2	7	3		4		2	2		3	6	2		1	14	10	1	20
nonsynonymous SNV	3	3	1	6	2		1		2	1		3	4	2		1	12	8	1	13
synonymous SNV	1		1	1	1		3			1			2				2	2		7

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
chr7:72398976	p.N94S,POM121	3
chr7:72413673	p.A38T,POM121	2
chr7:72397386	p.T769T,POM121	2
chr7:72416763	p.F782F,POM121	2
chr7:72413634	p.R982H	2
chr7:72413470	p.P480L,POM121	1
chr7:72416706	p.P738S,POM121	1
chr7:72399003	p.S822S,POM121	1
chr7:72413666	p.K984K	1
chr7:72409924	p.R156Q,POM121	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 POM121 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 POM121

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


PRRC2A,BAZ1B,BLM,DNMT1,EIF4H,GTF2I,HCFC1, KCTD7,LMTK2,NUP205,POM121,POM121C,RBM33,SBDSP1, STAG3L1,STAG3L2,STAG3L3,TRRAP,XRCC2,ZC3HAV1L,ZSCAN25	ASXL1,BAZ2A,HECTD4,DNAH1,DNHD1,EP300,LINC01000, HPS4,INTS3,MED12,NBPF9,NKTR,NUP214,POM121, POM121C,RAD54L2,RBM33,SETD5,SPEN,SRRM2,USP49

BAZ1B,EIF4H,GCC1,GIGYF1,LMTK2,NOM1,PAXIP1, POM121,POM121C,RBM33,SLC12A9,TAF6,TNPO3,TRIM56, TRRAP,TYW1,UBN2,USP42,ZKSCAN5,ZSCAN25,ZNF746	ANKRD11,ATXN2L,BRPF1,CHERP,GCN1L1,KIAA0355,MDN1, KMT2B___KMT2D,MYBBP1A,NUP214,POM121,POM121C,SAFB2,SNAPC4, SRRM2,SYMPK,TUBGCP6,USP36,UTRN,ZMIZ2,ZNF142

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 POM121

There's no related Drug.

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Cross referenced IDs for POM121

* 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