Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ACER3 (alkaline ceramidase 3)

Identity

Alias_namesPHCA
phytoceramidase
Alias_symbol (synonym)FLJ11238
APHC
Other aliasPLDECO
HGNC (Hugo) ACER3
LocusID (NCBI) 55331
Atlas_Id 55981
Location 11q13.5  [Link to chromosome band 11q13]
Location_base_pair Starts at 76860873 and ends at 77026797 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACER3 (11q13.5) / ACER3 (11q13.5)ACER3 (11q13.5) / NRL (14q11.2)ACER3 (11q13.5) / PPME1 (11q13.4)
ACER3 (11q13.5) / THRSP (11q14.1)ACER3 (11q13.5) / UVRAG (11q13.5)NCOR1 (17p12) / ACER3 (11q13.5)
TAOK1 (17q11.2) / ACER3 (11q13.5)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(11;11)(q13;q13) ACER3/UVRAG
t(11;11)(q13;q13) SHANK2/ACER3
t(11;11)(q13;q13) ACER3/PPME1
t(11;11)(q13;q14) ACER3/THRSP
t(11;14)(q13;q11) ACER3/NRL
t(11;17)(q13;q11) TAOK1/ACER3

External links

Nomenclature
HGNC (Hugo)ACER3   16066
Cards
Entrez_Gene (NCBI)ACER3  55331  alkaline ceramidase 3
AliasesAPHC; PHCA; PLDECO
GeneCards (Weizmann)ACER3
Ensembl hg19 (Hinxton)ENSG00000078124 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078124 [Gene_View]ENSG00000078124 [Sequence]  chr11:76860873-77026797 [Contig_View]  ACER3 [Vega]
ICGC DataPortalENSG00000078124
TCGA cBioPortalACER3
AceView (NCBI)ACER3
Genatlas (Paris)ACER3
WikiGenes55331
SOURCE (Princeton)ACER3
Genetics Home Reference (NIH)ACER3
Genomic and cartography
GoldenPath hg38 (UCSC)ACER3  -     chr11:76860873-77026797 +  11q13.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACER3  -     11q13.5   [Description]    (hg19-Feb_2009)
EnsemblACER3 - 11q13.5 [CytoView hg19]  ACER3 - 11q13.5 [CytoView hg38]
Mapping of homologs : NCBIACER3 [Mapview hg19]  ACER3 [Mapview hg38]
OMIM617036   617762   
Gene and transcription
Genbank (Entrez)AF214454 AF327353 AI885537 AK002100 AK293800
RefSeq transcript (Entrez)NM_001300953 NM_001300954 NM_001300955 NM_018367
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACER3
Cluster EST : UnigeneHs.720248 [ NCBI ]
CGAP (NCI)Hs.720248
Alternative Splicing GalleryENSG00000078124
Gene ExpressionACER3 [ NCBI-GEO ]   ACER3 [ EBI - ARRAY_EXPRESS ]   ACER3 [ SEEK ]   ACER3 [ MEM ]
Gene Expression Viewer (FireBrowse)ACER3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55331
GTEX Portal (Tissue expression)ACER3
Human Protein AtlasENSG00000078124-ACER3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUN7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUN7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUN7
Splice isoforms : SwissVarQ9NUN7
Catalytic activity : Enzyme3.5.1.- [ Enzyme-Expasy ]   3.5.1.-3.5.1.- [ IntEnz-EBI ]   3.5.1.- [ BRENDA ]   3.5.1.- [ KEGG ]   
PhosPhoSitePlusQ9NUN7
Domains : Interpro (EBI)Ceramidase   
Domain families : Pfam (Sanger)Ceramidase (PF05875)   
Domain families : Pfam (NCBI)pfam05875   
Conserved Domain (NCBI)ACER3
DMDM Disease mutations55331
Blocks (Seattle)ACER3
SuperfamilyQ9NUN7
Human Protein Atlas [tissue]ENSG00000078124-ACER3 [tissue]
Peptide AtlasQ9NUN7
HPRD17844
IPIIPI00018961   IPI00965568   IPI00983567   IPI00976974   IPI00981517   IPI00980922   IPI00979751   IPI00978159   IPI00983000   IPI00978779   IPI00984172   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUN7
IntAct (EBI)Q9NUN7
FunCoupENSG00000078124
BioGRIDACER3
STRING (EMBL)ACER3
ZODIACACER3
Ontologies - Pathways
QuickGOQ9NUN7
Ontology : AmiGOendoplasmic reticulum membrane  ceramide metabolic process  positive regulation of cell proliferation  sphingolipid biosynthetic process  integral component of Golgi membrane  integral component of endoplasmic reticulum membrane  sphingosine biosynthetic process  phytoceramidase activity  phytoceramidase activity  phytosphingosine biosynthetic process  
Ontology : EGO-EBIendoplasmic reticulum membrane  ceramide metabolic process  positive regulation of cell proliferation  sphingolipid biosynthetic process  integral component of Golgi membrane  integral component of endoplasmic reticulum membrane  sphingosine biosynthetic process  phytoceramidase activity  phytoceramidase activity  phytosphingosine biosynthetic process  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkACER3
Atlas of Cancer Signalling NetworkACER3
Wikipedia pathwaysACER3
Orthology - Evolution
OrthoDB55331
GeneTree (enSembl)ENSG00000078124
Phylogenetic Trees/Animal Genes : TreeFamACER3
HOVERGENQ9NUN7
HOGENOMQ9NUN7
Homologs : HomoloGeneACER3
Homology/Alignments : Family Browser (UCSC)ACER3
Gene fusions - Rearrangements
Fusion : QuiverACER3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACER3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACER3
dbVarACER3
ClinVarACER3
1000_GenomesACER3 
Exome Variant ServerACER3
ExAC (Exome Aggregation Consortium)ENSG00000078124
GNOMAD BrowserENSG00000078124
Genetic variants : HAPMAP55331
Genomic Variants (DGV)ACER3 [DGVbeta]
DECIPHERACER3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACER3 
Mutations
ICGC Data PortalACER3 
TCGA Data PortalACER3 
Broad Tumor PortalACER3
OASIS PortalACER3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACER3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACER3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ACER3
DgiDB (Drug Gene Interaction Database)ACER3
DoCM (Curated mutations)ACER3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACER3 (select a term)
intoGenACER3
Cancer3DACER3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617036    617762   
Orphanet
DisGeNETACER3
MedgenACER3
Genetic Testing Registry ACER3
NextProtQ9NUN7 [Medical]
TSGene55331
GENETestsACER3
Target ValidationACER3
Huge Navigator ACER3 [HugePedia]
snp3D : Map Gene to Disease55331
BioCentury BCIQACER3
ClinGenACER3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55331
Chemical/Pharm GKB GenePA33256
Clinical trialACER3
Miscellaneous
canSAR (ICR)ACER3 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACER3
EVEXACER3
GoPubMedACER3
iHOPACER3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jun 21 16:37:44 CEST 2018
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