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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ASAH2 |
Basic gene info. | Gene symbol | ASAH2 |
Gene name | N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 | |
Synonyms | BCDase|HNAC1|LCDase|N-CDase|NCDase | |
Cytomap | UCSC genome browser: 10q11.21 | |
Genomic location | chr10 :51946999-52008370 | |
Type of gene | protein-coding | |
RefGenes | NM_001143974.1, NM_019893.2, | |
Ensembl id | ENSG00000188611 | |
Description | N-acylsphingosine amidohydrolase 2acylsphingosine deacylase 2mitochondrial ceramidaseneutral ceramidaseneutral/alkaline ceramidasenon-lysosomal ceramidase | |
Modification date | 20141207 | |
dbXrefs | MIM : 611202 | |
HGNC : HGNC | ||
Ensembl : ENSG00000188611 | ||
Vega : OTTHUMG00000018223 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ASAH2 | |
BioGPS: 56624 | ||
Gene Expression Atlas: ENSG00000188611 | ||
The Human Protein Atlas: ENSG00000188611 | ||
Pathway | NCI Pathway Interaction Database: ASAH2 | |
KEGG: ASAH2 | ||
REACTOME: ASAH2 | ||
ConsensusPathDB | ||
Pathway Commons: ASAH2 | ||
Metabolism | MetaCyc: ASAH2 | |
HUMANCyc: ASAH2 | ||
Regulation | Ensembl's Regulation: ENSG00000188611 | |
miRBase: chr10 :51,946,999-52,008,370 | ||
TargetScan: NM_001143974 | ||
cisRED: ENSG00000188611 | ||
Context | iHOP: ASAH2 | |
cancer metabolism search in PubMed: ASAH2 | ||
UCL Cancer Institute: ASAH2 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for ASAH2(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: ASAH2 |
Familial Cancer Database: ASAH2 |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
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/ |
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KEGG_SPHINGOLIPID_METABOLISM REACTOME_GLYCOSPHINGOLIPID_METABOLISM REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_SPHINGOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: ASAH2 |
MedGen: ASAH2 (Human Medical Genetics with Condition) | |
ClinVar: ASAH2 | |
Phenotype | MGI: ASAH2 (International Mouse Phenotyping Consortium) |
PhenomicDB: ASAH2 |
Mutations for ASAH2 |
* 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. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ASAH2 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 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   | 2 |   | 1 |   |   | 1 |   | 1 |   |   |   |   |   | 1 |   |   | |||
GAIN (# sample) |   |   |   | 1 |   |   | 1 |   | 1 |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   | 2 |   |   |   |   |   |   |   |   |   |   |   |   | 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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Stat. for Non-Synonymous SNVs (# total SNVs=21) | (# total SNVs=11) |
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(# total SNVs=3) | (# total SNVs=0) |
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* 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 |
chr10:52003017-52003017 | p.R133Q | 3 |
chr10:52003034-52003034 | p.E127E | 2 |
chr10:52008306-52008306 | p.A3V | 2 |
chr10:52002997-52002997 | p.D140N | 2 |
chr10:52005194-52005194 | p.S31fs*40 | 2 |
chr10:52003012-52003012 | p.V135L | 1 |
chr10:52005073-52005073 | p.T71I | 1 |
chr10:52008262-52008262 | p.T18A | 1 |
chr10:51974617-51974617 | p.V323V | 1 |
chr10:52005080-52005080 | p.P69T | 1 |
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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 |   | 2 |   |   | 1 |   | 1 |   |   | 7 | 5 | 1 |   |   | 15 | 2 |   | 5 |
# mutation | 1 | 1 |   | 2 |   |   | 1 |   | 1 |   |   | 7 | 5 | 1 |   |   | 14 | 2 |   | 5 |
nonsynonymous SNV | 1 |   |   | 2 |   |   | 1 |   | 1 |   |   | 4 | 5 | 1 |   |   | 9 | 2 |   | 3 |
synonymous SNV |   | 1 |   |   |   |   |   |   |   |   |   | 3 |   |   |   |   | 5 |   |   | 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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* 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 |
chr10:52005019 | p.D159N,ASAH2 | 2 |
chr10:52008306 | p.A22V,ASAH2 | 2 |
chr10:52002997 | p.R108Q,ASAH2 | 2 |
chr10:52008332 | p.L13L,ASAH2 | 2 |
chr10:52008258 | p.P56Q,ASAH2 | 1 |
chr10:51978297 | p.S54N,ASAH2 | 1 |
chr10:52005023 | p.I158I,ASAH2 | 1 |
chr10:52008284 | p.I38T,ASAH2 | 1 |
chr10:51994202 | p.V156V,ASAH2 | 1 |
chr10:52005028 | p.S29R,ASAH2 | 1 |
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* 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. |
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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 ASAH2 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* 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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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* 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 |
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APOOL,ASAH2,CCDC186,CLOCK,DPP8,FAM73A,IDE, IPP,CERS6,LATS1,LMBRD2,NHLRC2,NSD1,PARG, PDS5A,RAB30,SLC35A3,SPG11,UBR1,UEVLD,WAPAL | ASAH2,CYP4F30P,CAND1,CYP2B7P,DOPEY2,ENTPD7,FGFR1OP, GRIP1,HLCS,KIAA1958,CERS6,LCOR,MBOAT2,PANK3, PDXDC1,POTEH,PRLR,PSD3,SLC35E3,ZMYM2,ZNF587 |
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ANP32C,ASAH2,ASB17,LINC00314,C2orf27B,GOLGA2P3Y,GOLGA6A, GOLGA8EP,HLA-L,LOC344967,LOC347376,LOC442459,LOC723972,MORF4, OR2V2,OR51Q1,PGAM4,POTEE,PPIAL4C,SPDYE2,UBE2MP1 | ABCC2,ASAH2,DEFA5,DNASE1,DPP4,GALNT14,GPR112, GSTA1,HAPLN4,KCNH6,KCNJ3,LOC285733,MME,MRO, NR0B2,NTS,OAT,REEP6,SHBG,SLC10A2,SULT2A1 |
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* 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 |
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Pharmacological Information for ASAH2 |
There's no related Drug. |
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Cross referenced IDs for ASAH2 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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