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 ACER2

Basic gene info.	Gene symbol	ACER2
	Gene name	alkaline ceramidase 2
	Synonyms	ALKCDase2\|ASAH3L
	Cytomap	UCSC genome browser: 9p22.1
	Genomic location	chr9 :19408924-19452500
	Type of gene	protein-coding
	RefGenes	NM_001010887.2,
	Ensembl id	ENSG00000177076
	Description	alkCDase 2alkaline CDase 2ceramide hydrolasehaCER2
	Modification date	20141207
dbXrefs	MIM : 613492
	HGNC : HGNC
	HPRD : 16512
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ACER2
	BioGPS: 340485
	Gene Expression Atlas: ENSG00000177076
	The Human Protein Atlas: ENSG00000177076
Pathway	NCI Pathway Interaction Database: ACER2
	KEGG: ACER2
	REACTOME: ACER2
	ConsensusPathDB
	Pathway Commons: ACER2
Metabolism	MetaCyc: ACER2
	HUMANCyc: ACER2
Regulation	Ensembl's Regulation: ENSG00000177076
	miRBase: chr9 :19,408,924-19,452,500
	TargetScan: NM_001010887
	cisRED: ENSG00000177076
Context	iHOP: ACER2
	cancer metabolism search in PubMed: ACER2
	UCL Cancer Institute: ACER2
Assigned class in ccmGDB	C

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Phenotypic Information for ACER2(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: ACER2
	Familial Cancer Database: ACER2

* 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
KEGG_SPHINGOLIPID_METABOLISM REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_SPHINGOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

Others
OMIM
Orphanet
Disease	KEGG Disease: ACER2
	MedGen: ACER2 (Human Medical Genetics with Condition)
	ClinVar: ACER2
Phenotype	MGI: ACER2 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: ACER2

Mutations for ACER2

* 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 ACER2 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

BC092487

ACER2

2027

19409010

19451624

CSH1

2019

2066

61972278

61972325

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=5

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=21)	Stat. for Synonymous SNVs (# total SNVs=3)

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
chr9:19423911-19423911	p.R54C	4
chr9:19446293-19446293	p.R173H	2
chr9:19423917-19423917	p.Y56H	2
chr9:19409093-19409093	p.P4L	1
chr9:19450631-19450631	p.T275T	1
chr9:19424709-19424709	p.V79I	1
chr9:19435068-19435068	p.I163I	1
chr9:19409103-19409103	p.W7C	1
chr9:19424744-19424744	p.Q90H	1
chr9:19446272-19446272	p.?	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=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		1		3	1		1					4	2				3	6		4
# mutation		1		3	1		1					4	2				3	6		4
nonsynonymous SNV		1		2	1		1					3	2					4		2
synonymous SNV				1								1					3	2		2

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
chr9:19423945	p.V127V	1
chr9:19435048	p.L139M	1
chr9:19424709	p.P157S	1
chr9:19435068	p.C20G	1
chr9:19424711	p.I163I	1
chr9:19446292	p.F43F	1
chr9:19424744	p.R173C	1
chr9:19446317	p.R54C	1
chr9:19424785	p.R54H	1
chr9:19446396	p.S181L	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 ACER2 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 ACER2

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


ACER2,ARID2,ATP7A,CCNT1,DENND4C,DMXL1,DNAJB14, DPP8,DTWD2,FAM63B,GTF2A1,FOCAD,KLHL28,KLHL9, LCOR,NHLRC2,RNF111,STAM2,TSTD2,UEVLD,WDFY3	ACER2,AFF1,ANO6,ARHGAP42,GPATCH11,COL4A3BP,EHHADH, EIF4EBP2,FNIP2,MYCBP2,PDP2,PIK3CA,PREX2,PTPRG, PVRL3,RBMS3,REEP3,RHOBTB3,SAMD8,SBF2,SOX5

ABHD3,ACER2,BCAS1,C1orf94,CCNG2,CHST5,CTSE, FER1L6,KLF4,MARVELD3,MGLL,MMP28,PAG1,REG4, RIOK3,SLC17A5,SMPDL3A,TSPAN1,UGT1A4,VSIG1,VSIG2	ACER2,ACVR1B,AMACR,B3GNT2,BCAS1,C12orf75,DHX32, EIF2AK3,ENDOD1,FER1L6,GALNT12,GPR153,MINPP1,MTM1, NEDD4L,RIMKLA,SLC17A5,SYT7,SYTL2,USP54,VIPR1

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 ACER2

There's no related Drug.

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Cross referenced IDs for ACER2

* 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