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CERS5 (ceramide synthase 5)

Identity

Alias_namesLASS5
LAG1 longevity assurance homolog 5 (S. cerevisiae)
LAG1 homolog, ceramide synthase 5
Alias_symbol (synonym)Trh4
MGC45411
FLJ25304
Other alias
HGNC (Hugo) CERS5
LocusID (NCBI) 91012
Atlas_Id 52286
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 50523089 and ends at 50561316 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CERS5 (12q13.12) / CERS5 (12q13.12)CERS5 (12q13.12) / NPL (1q25.3)CERS5 (12q13.12) / SAMD11 (1p36.33)
GUSB (7q11.21) / CERS5 (12q13.12)RACGAP1 (12q13.12) / CERS5 (12q13.12)CERS5 12q13.12 / SAMD11 1p36.33
RACGAP1 12q13.12 / CERS5 12q13.12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CERS5   23749
Cards
Entrez_Gene (NCBI)CERS5  91012  ceramide synthase 5
AliasesLASS5; Trh4
GeneCards (Weizmann)CERS5
Ensembl hg19 (Hinxton)ENSG00000139624 [Gene_View]  chr12:50523089-50561316 [Contig_View]  CERS5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000139624 [Gene_View]  chr12:50523089-50561316 [Contig_View]  CERS5 [Vega]
ICGC DataPortalENSG00000139624
TCGA cBioPortalCERS5
AceView (NCBI)CERS5
Genatlas (Paris)CERS5
WikiGenes91012
SOURCE (Princeton)CERS5
Genetics Home Reference (NIH)CERS5
Genomic and cartography
GoldenPath hg19 (UCSC)CERS5  -     chr12:50523089-50561316 -  12q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CERS5  -     12q13.12   [Description]    (hg38-Dec_2013)
EnsemblCERS5 - 12q13.12 [CytoView hg19]  CERS5 - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBICERS5 [Mapview hg19]  CERS5 [Mapview hg38]
OMIM615335   
Gene and transcription
Genbank (Entrez)AK026014 AK027087 AK055740 AK058033 AK294521
RefSeq transcript (Entrez)NM_001281731 NM_147190
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)CERS5
Cluster EST : UnigeneHs.270525 [ NCBI ]
CGAP (NCI)Hs.270525
Alternative Splicing GalleryENSG00000139624
Gene ExpressionCERS5 [ NCBI-GEO ]   CERS5 [ EBI - ARRAY_EXPRESS ]   CERS5 [ SEEK ]   CERS5 [ MEM ]
Gene Expression Viewer (FireBrowse)CERS5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91012
GTEX Portal (Tissue expression)CERS5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N5B7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N5B7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N5B7
Splice isoforms : SwissVarQ8N5B7
Catalytic activity : Enzyme2.3.1.24 [ Enzyme-Expasy ]   2.3.1.242.3.1.24 [ IntEnz-EBI ]   2.3.1.24 [ BRENDA ]   2.3.1.24 [ KEGG ]   
PhosPhoSitePlusQ8N5B7
Domaine pattern : Prosite (Expaxy)HOMEOBOX_2 (PS50071)    TLC (PS50922)   
Domains : Interpro (EBI)Homeobox_dom    Homeodomain-like    Lag1/Lac1    TLC-dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    TRAM_LAG1_CLN8 (PF03798)   
Domain families : Pfam (NCBI)pfam00046    pfam03798   
Domain families : Smart (EMBL)HOX (SM00389)  TLC (SM00724)  
Conserved Domain (NCBI)CERS5
DMDM Disease mutations91012
Blocks (Seattle)CERS5
SuperfamilyQ8N5B7
Human Protein AtlasENSG00000139624
Peptide AtlasQ8N5B7
HPRD13963
IPIIPI00166833   IPI00643044   IPI00910579   IPI00744498   IPI01021594   IPI01021733   IPI01021242   IPI01021406   IPI01021028   IPI01022566   IPI01020729   IPI01020878   IPI01023044   IPI01021951   IPI01022531   IPI01022702   
Protein Interaction databases
DIP (DOE-UCLA)Q8N5B7
IntAct (EBI)Q8N5B7
FunCoupENSG00000139624
BioGRIDCERS5
STRING (EMBL)CERS5
ZODIACCERS5
Ontologies - Pathways
QuickGOQ8N5B7
Ontology : AmiGODNA binding  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  sphingolipid biosynthetic process  nuclear membrane  ceramide biosynthetic process  sphingosine N-acyltransferase activity  sphingosine N-acyltransferase activity  
Ontology : EGO-EBIDNA binding  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  sphingolipid biosynthetic process  nuclear membrane  ceramide biosynthetic process  sphingosine N-acyltransferase activity  sphingosine N-acyltransferase activity  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkCERS5
Atlas of Cancer Signalling NetworkCERS5
Wikipedia pathwaysCERS5
Orthology - Evolution
OrthoDB91012
GeneTree (enSembl)ENSG00000139624
Phylogenetic Trees/Animal Genes : TreeFamCERS5
HOVERGENQ8N5B7
HOGENOMQ8N5B7
Homologs : HomoloGeneCERS5
Homology/Alignments : Family Browser (UCSC)CERS5
Gene fusions - Rearrangements
Fusion : MitelmanCERS5/SAMD11 [12q13.12/1p36.33]  
Fusion : MitelmanRACGAP1/CERS5 [12q13.12/12q13.12]  [t(12;12)(q13;q13)]  
Fusion: TCGACERS5 12q13.12 SAMD11 1p36.33 BRCA
Fusion: TCGARACGAP1 12q13.12 CERS5 12q13.12 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCERS5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CERS5
dbVarCERS5
ClinVarCERS5
1000_GenomesCERS5 
Exome Variant ServerCERS5
ExAC (Exome Aggregation Consortium)CERS5 (select the gene name)
Genetic variants : HAPMAP91012
Genomic Variants (DGV)CERS5 [DGVbeta]
DECIPHER (Syndromes)12:50523089-50561316  ENSG00000139624
CONAN: Copy Number AnalysisCERS5 
Mutations
ICGC Data PortalCERS5 
TCGA Data PortalCERS5 
Broad Tumor PortalCERS5
OASIS PortalCERS5 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCERS5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CERS5
DgiDB (Drug Gene Interaction Database)CERS5
DoCM (Curated mutations)CERS5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CERS5 (select a term)
intoGenCERS5
Cancer3DCERS5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615335   
Orphanet
MedgenCERS5
Genetic Testing Registry CERS5
NextProtQ8N5B7 [Medical]
TSGene91012
GENETestsCERS5
Huge Navigator CERS5 [HugePedia]
snp3D : Map Gene to Disease91012
BioCentury BCIQCERS5
ClinGenCERS5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91012
Chemical/Pharm GKB GenePA134882694
Clinical trialCERS5
Miscellaneous
canSAR (ICR)CERS5 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCERS5
EVEXCERS5
GoPubMedCERS5
iHOPCERS5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:56:16 CEST 2017

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