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 ASAH1
Basic gene info.Gene symbolASAH1
Gene nameN-acylsphingosine amidohydrolase (acid ceramidase) 1
SynonymsAC|ACDase|ASAH|PHP|PHP32|SMAPME
CytomapUCSC genome browser: 8p22
Genomic locationchr8 :17913924-17941879
Type of geneprotein-coding
RefGenesNM_001127505.1,
NM_004315.4,NM_177924.3,
Ensembl idENSG00000104763
Descriptionacid CDaseacid ceramidaseacylsphingosine deacylaseputative 32 kDa heart protein
Modification date20141207
dbXrefs MIM : 613468
HGNC : HGNC
Ensembl : ENSG00000104763
HPRD : 01969
Vega : OTTHUMG00000096997
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ASAH1
BioGPS: 427
Gene Expression Atlas: ENSG00000104763
The Human Protein Atlas: ENSG00000104763
PathwayNCI Pathway Interaction Database: ASAH1
KEGG: ASAH1
REACTOME: ASAH1
ConsensusPathDB
Pathway Commons: ASAH1
MetabolismMetaCyc: ASAH1
HUMANCyc: ASAH1
RegulationEnsembl's Regulation: ENSG00000104763
miRBase: chr8 :17,913,924-17,941,879
TargetScan: NM_001127505
cisRED: ENSG00000104763
ContextiHOP: ASAH1
cancer metabolism search in PubMed: ASAH1
UCL Cancer Institute: ASAH1
Assigned class in ccmGDBC

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Phenotypic Information for ASAH1(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: ASAH1
Familial Cancer Database: ASAH1
* 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/

check002.gifMetabolic Pathway Description
KEGG_SPHINGOLIPID_METABOLISM
REACTOME_GLYCOSPHINGOLIPID_METABOLISM
REACTOME_PHOSPHOLIPID_METABOLISM
REACTOME_SPHINGOLIPID_METABOLISM
REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

check002.gifOthers
OMIM
Orphanet
DiseaseKEGG Disease: ASAH1
MedGen: ASAH1 (Human Medical Genetics with Condition)
ClinVar: ASAH1
PhenotypeMGI: ASAH1 (International Mouse Phenotyping Consortium)
PhenomicDB: ASAH1

Mutations for ASAH1
* 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.

check002.gifStructural Variants in COSMIC: go to COSMIC mutation histogram
There's no structural variation information in COSMIC data for this gene.

check002.gifRelated fusion transcripts : go to Chitars2.0
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ASAH1 related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a
DA755770ASAH1116381793305017941605SF3B3164576167057557270588426
BF988401ASAH12537781792306617923419CTBP1373533412368761237036
AA501801ASAH1813681791396317914091ASAH113226981791407617914213
BU690017ASAH11840381791393517914320ASAH139554481791429117914440
DB172989SHROOM3146347754746277547922ASAH146457481794150717941617
DB239554ASAH1117581793304917942311PCM117559181781752317819676

check002.gifOther DBs for Structural Variants
Structural Variants in Ensembl: go to Ensembl Structural variation
Structural Variants in dbVar: go to dbVar

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check002.gifCopy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr
 
Mutation type/ Tissue IDbrcacnscervendomehaematopokidnLintestliverlungnsovarypancreprostskinstomathyrourina
Total # sample3     1         1
GAIN (# sample)1                
LOSS (# sample)2     1         1
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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check002.gifSNV 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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check002.gifSomatic Mutation Counts per Tissue in COSMIC data
Stat. for Non-Synonymous SNVs
(# total SNVs=27)
Stat. for Synonymous SNVs
(# total SNVs=5)
Stat. for Deletions
(# total SNVs=1)
Stat. for Insertions
(# total SNVs=0)
There's no inserted snv.

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check002.gifTop 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 positionMutation(aa)Unique sampleID count
chr8:17920740-17920740p.?3
chr8:17927368-17927368p.S79Y2
chr8:17922029-17922029p.S132A2
chr8:17916887-17916887p.T335M2
chr8:17933090-17933090p.E29Q2
chr8:17927343-17927343p.F87F2
chr8:17915072-17915072p.D387Y2
chr8:17919227-17919227p.N224S1
chr8:17922014-17922014p.Y137fs*101
chr8:17915074-17915074p.R386L1

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check002.gifSNV 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 ID1234567891011121314151617181920
# sample21 51 1 1  3     3 8
# mutation21 51 1 1  4     3 9
nonsynonymous SNV21 31 1 1  3     2 7
synonymous SNV   2       1     1 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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check002.gifTop 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 PositionMutation(aa)Unique sampleID count
chr8:17916887p.S95Y,ASAH12
chr8:17927368p.T329M,ASAH12
chr8:17921992p.L117M,ASAH11
chr8:17942257p.D384G,ASAH11
chr8:17915118p.F103F,ASAH11
chr8:17922036p.F375F,ASAH11
chr8:17942296p.T365T,ASAH11
chr8:17924763p.E80K,ASAH11
chr8:17916969p.A62V1
chr8:17927303p.D302N,ASAH11

check002.gifOther 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

check002.gifCopy Number for ASAH1 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 ASAH1

check002.gifGene 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.

check002.gifDifferential 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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check002.gifCNV 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
check002.gifCo-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

ASAH1,CCDC176,KIAA0825,DNAH7,DTWD2,EIF4E3,ENTPD4,
EXOC6,HMBOX1,KIF13B,NAT1,NUDT12,PCM1,PJA2,
POLK,PPP2R2A,PSD3,SH2D4A,SPATA6,SARAF,TNKS
ASAH1,ASPH,BTD,CAV1,ECM2,GNG2,GNS,
GTDC1,HNMT,MBD2,MGST1,MMD,NMT2,OSTM1,
PGRMC2,PYGL,RHOQ,SAR1A,SEPT11,STS,VKORC1L1

ASAH1,ATP6V1B2,CCDC25,CHMP7,CNOT7,CTSB,ELP3,
ENTPD4,INTS10,LEPROTL1,MCPH1,PCM1,POLR3D,PPP2CB,
PPP2R2A,R3HCC1,SLC39A14,SARAF,TRIM35,VPS37A,XPO7
ASAH1,BDNF-AS,TRIQK,CASC4,CD200R1,CLCA1,COG2,
CREB3L4,CTBS,DRAM2,ENPP5,HEPACAM2,HEXA,KLK1,
NPC2,NPL,PLBD1,SNX5,ST6GALNAC1,TFF3,ZNF816
check002.gifCo-Expressed gene's Protein-protein interaction 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

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check002.gifInteracting 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 ASAH1
check002.gifCross-referenced pharmacological DB IDs from Uniprot
DB CategoryDB NameDB's ID and Url link

check002.gifDrug-Gene Interaction Network
* Gene Centered Interaction Network.
* Drug Centered Interaction Network.
DrugBank IDTarget NameDrug GroupsGeneric NameDrug Centered NetworkDrug Structure
DB00143N-acylsphingosine amidohydrolase (acid ceramidase) 1approved; nutraceuticalGlutathione


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Cross referenced IDs for ASAH1
* 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



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