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 MAN1B1

Basic gene info.	Gene symbol	MAN1B1
	Gene name	mannosidase, alpha, class 1B, member 1
	Synonyms	ERMAN1\|MANA-ER\|MRT15
	Cytomap	UCSC genome browser: 9q34
	Genomic location	chr9 :139981378-140003639
	Type of gene	protein-coding
	RefGenes	NM_016219.4, NR_045720.1,NR_045721.1,
	Ensembl id	ENSG00000177239
	Description	ER alpha 1,2-mannosidaseMan9GlcNAc2-specific processing alpha-mannosidaseendoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidaseendoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
	Modification date	20141219
dbXrefs	MIM : 604346
	HGNC : HGNC
	Ensembl : ENSG00000177239
	HPRD : 05068
	Vega : OTTHUMG00000020978
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_MAN1B1
	BioGPS: 11253
	Gene Expression Atlas: ENSG00000177239
	The Human Protein Atlas: ENSG00000177239
Pathway	NCI Pathway Interaction Database: MAN1B1
	KEGG: MAN1B1
	REACTOME: MAN1B1
	ConsensusPathDB
	Pathway Commons: MAN1B1
Metabolism	MetaCyc: MAN1B1
	HUMANCyc: MAN1B1
Regulation	Ensembl's Regulation: ENSG00000177239
	miRBase: chr9 :139,981,378-140,003,639
	TargetScan: NM_016219
	cisRED: ENSG00000177239
Context	iHOP: MAN1B1
	cancer metabolism search in PubMed: MAN1B1
	UCL Cancer Institute: MAN1B1
Assigned class in ccmGDB	C

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Phenotypic Information for MAN1B1(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: MAN1B1
	Familial Cancer Database: MAN1B1

* 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: MAN1B1
	MedGen: MAN1B1 (Human Medical Genetics with Condition)
	ClinVar: MAN1B1
Phenotype	MGI: MAN1B1 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: MAN1B1

Mutations for MAN1B1

* 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

* 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
central_nervous_system	MAN1B1	chr9	139996694	139996694	MAN1B1	chr9	139997341	139997341
ovary	MAN1B1	chr9	139994937	139994957		chr1	12770646	12770666
pancreas	MAN1B1	chr9	139996763	139996783	MAN1B1	chr9	139996529	139996549

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 MAN1B1 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

BF915326

AMPD3

251

10494805

10495037

MAN1B1

250

541

139981514

139983346

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=4

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=34)	Stat. for Synonymous SNVs (# total SNVs=14)

Stat. for Deletions (# total SNVs=2)	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
chr9:140002989-140002989	p.D682D	4
chr9:140002995-140002995	p.Y684Y	2
chr9:139994260-139994260	p.F281F	2
chr9:140003024-140003024	p.P694R	2
chr9:139996024-139996024	p.H385P	2
chr9:139990753-139990753	p.L177R	2
chr9:139995548-139995548	p.L339fs*2	2
chr9:140002938-140002938	p.L665L	2
chr9:139983453-139983453	p.S154L	2
chr9:140001201-140001201	p.S502S	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=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	4	2		5			2		1			5	1	2			5	8		3
# mutation	5	2		5			2		1			5	1	2			5	9		5
nonsynonymous SNV	5	2		2			1					4		1			4	6		5
synonymous SNV				3			1		1			1	1	1			1	3

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
chr9:139995507	p.Q169K	1
chr9:140001201	p.D392N	1
chr9:139983393	p.P172H	1
chr9:140002995	p.G437W	1
chr9:139995528	p.P197P	1
chr9:140001223	p.S502S	1
chr9:139983450	p.P201P	1
chr9:140003028	p.V510L	1
chr9:139995566	p.R249C	1
chr9:140001842	p.P569P	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 MAN1B1 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 MAN1B1

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


ANAPC2,C1orf122,PRADC1,C9orf142,C9orf69,RABL6,NELFB, EDF1,FBXW5,JOSD2,LMAN2,MAN1B1,NTMT1,NDOR1, PHPT1,PMPCA,PTGES2,REXO4,SDF4,SSNA1,SURF6	ARFGAP1,COQ4,CORO1B,DAK,DDX41,ERP29,GAK, HMG20B,LRRC45,MAN1B1,NDOR1,NMRAL1,POMT1,PRKCSH, RANGAP1,RUVBL2,SLC12A9,TRIM11,U2AF2,WDR46,YIPF2

ANAPC2,B3GAT3,C11orf68,C9orf142,NELFB,COQ4,DPP7, EDF1,FBXW5,FPGS,LRSAM1,MAN1B1,MPG,NDOR1, PHPT1,RNF208,SH3GLB2,SSNA1,SURF1,THAP3,TMEM203	B3GALT4,KDF1,DALRD3,DUSP23,ERGIC3,FCGRT,HMGCL, HPS6,IMPA2,MAN1B1,C8orf82,PGLS,PXMP2,SLC35C2, STAP2,TEX264,THAP4,TMEM134,ZDHHC12,ZDHHC24,ZNF524

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 MAN1B1

Cross-referenced pharmacological DB IDs from Uniprot

DB Category

DB Name

DB's ID and Url link

Drug-Gene Interaction Network

* Gene Centered Interaction Network.

* Drug Centered Interaction Network.

DrugBank ID	Target Name	Drug Groups	Generic Name	Drug Centered Network	Drug Structure
DB01955	mannosidase, alpha, class 1B, member 1	experimental	1,4-Butanediol
DB02422	mannosidase, alpha, class 1B, member 1	experimental	Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside
DB02742	mannosidase, alpha, class 1B, member 1	experimental	Kifunensine
DB02944	mannosidase, alpha, class 1B, member 1	experimental	Alpha-D-Mannose
DB03206	mannosidase, alpha, class 1B, member 1	experimental	1-Deoxynojirimycin
DB00694	mannosidase, alpha, class 1B, member 1	approved	Daunorubicin

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Cross referenced IDs for MAN1B1

* 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