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PORCN (porcupine O-acyltransferase)

Identity

Alias_namesDHOF
dermal hypoplasia, focal
porcupine homolog (Drosophila)
Alias_symbol (synonym)MG61
PORC
PPN
por
Other aliasFODH
HGNC (Hugo) PORCN
LocusID (NCBI) 64840
Atlas_Id 50270
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 48508992 and ends at 48520808 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)
PORCN (Xp11.23) / CAND1 (12q14.3)PORCN (Xp11.23) / PORCN (Xp11.23)

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)PORCN   17652
Cards
Entrez_Gene (NCBI)PORCN  64840  porcupine O-acyltransferase
AliasesDHOF; FODH; MG61; PORC; 
PPN
GeneCards (Weizmann)PORCN
Ensembl hg19 (Hinxton)ENSG00000102312 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102312 [Gene_View]  ENSG00000102312 [Sequence]  chrX:48508992-48520808 [Contig_View]  PORCN [Vega]
ICGC DataPortalENSG00000102312
TCGA cBioPortalPORCN
AceView (NCBI)PORCN
Genatlas (Paris)PORCN
WikiGenes64840
SOURCE (Princeton)PORCN
Genetics Home Reference (NIH)PORCN
Genomic and cartography
GoldenPath hg38 (UCSC)PORCN  -     chrX:48508992-48520808 +  Xp11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PORCN  -     Xp11.23   [Description]    (hg19-Feb_2009)
GoldenPathPORCN - Xp11.23 [CytoView hg19]  PORCN - Xp11.23 [CytoView hg38]
Genome Data Viewer NCBIPORCN [Mapview hg19]  
OMIM300651   305600   
Gene and transcription
Genbank (Entrez)AF317058 AF317059 AF317060 AF317061 AK056340
RefSeq transcript (Entrez)NM_001282167 NM_022825 NM_203473 NM_203474 NM_203475 NM_203476
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PORCN
Alternative Splicing GalleryENSG00000102312
Gene ExpressionPORCN [ NCBI-GEO ]   PORCN [ EBI - ARRAY_EXPRESS ]   PORCN [ SEEK ]   PORCN [ MEM ]
Gene Expression Viewer (FireBrowse)PORCN [ Firebrowse - Broad ]
GenevisibleExpression of PORCN in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64840
GTEX Portal (Tissue expression)PORCN
Human Protein AtlasENSG00000102312-PORCN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H237   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H237  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H237
Splice isoforms : SwissVarQ9H237
PhosPhoSitePlusQ9H237
Domains : Interpro (EBI)MBOAT_fam   
Domain families : Pfam (Sanger)MBOAT (PF03062)   
Domain families : Pfam (NCBI)pfam03062   
Conserved Domain (NCBI)PORCN
DMDM Disease mutations64840
SuperfamilyQ9H237
Human Protein Atlas [tissue]ENSG00000102312-PORCN [tissue]
Peptide AtlasQ9H237
HPRD06680
IPIIPI00010194   IPI00383252   IPI00183971   IPI00409706   IPI00409620   IPI00945874   IPI00945629   IPI00945218   
Protein Interaction databases
DIP (DOE-UCLA)Q9H237
IntAct (EBI)Q9H237
FunCoupENSG00000102312
BioGRIDPORCN
STRING (EMBL)PORCN
ZODIACPORCN
Ontologies - Pathways
QuickGOQ9H237
Ontology : AmiGOendoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  protein lipidation  glycoprotein metabolic process  membrane  Wnt signaling pathway  transferase activity, transferring acyl groups  Wnt-protein binding  protein palmitoylation  integral component of endoplasmic reticulum membrane  lipid modification  AMPA glutamate receptor complex  protein palmitoleylation  canonical Wnt signaling pathway  Wnt protein secretion  glutamatergic synapse  regulation of postsynaptic membrane neurotransmitter receptor levels  palmitoleoyltransferase activity  palmitoleoyltransferase activity  
Ontology : EGO-EBIendoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  protein lipidation  glycoprotein metabolic process  membrane  Wnt signaling pathway  transferase activity, transferring acyl groups  Wnt-protein binding  protein palmitoylation  integral component of endoplasmic reticulum membrane  lipid modification  AMPA glutamate receptor complex  protein palmitoleylation  canonical Wnt signaling pathway  Wnt protein secretion  glutamatergic synapse  regulation of postsynaptic membrane neurotransmitter receptor levels  palmitoleoyltransferase activity  palmitoleoyltransferase activity  
Pathways : KEGGWnt signaling pathway   
NDEx NetworkPORCN
Atlas of Cancer Signalling NetworkPORCN
Wikipedia pathwaysPORCN
Orthology - Evolution
OrthoDB64840
GeneTree (enSembl)ENSG00000102312
Phylogenetic Trees/Animal Genes : TreeFamPORCN
HOGENOMQ9H237
Homologs : HomoloGenePORCN
Homology/Alignments : Family Browser (UCSC)PORCN
Gene fusions - Rearrangements
Fusion : QuiverPORCN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPORCN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PORCN
dbVarPORCN
ClinVarPORCN
1000_GenomesPORCN 
Exome Variant ServerPORCN
GNOMAD BrowserENSG00000102312
Varsome BrowserPORCN
Genetic variants : HAPMAP64840
Genomic Variants (DGV)PORCN [DGVbeta]
DECIPHERPORCN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPORCN 
Mutations
ICGC Data PortalPORCN 
TCGA Data PortalPORCN 
Broad Tumor PortalPORCN
OASIS PortalPORCN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPORCN  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPORCN
Mutations and Diseases : HGMDPORCN
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
BioMutaselect PORCN
DgiDB (Drug Gene Interaction Database)PORCN
DoCM (Curated mutations)PORCN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PORCN (select a term)
intoGenPORCN
Cancer3DPORCN (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300651    305600   
Orphanet2004   
DisGeNETPORCN
MedgenPORCN
Genetic Testing Registry PORCN
NextProtQ9H237 [Medical]
TSGene64840
GENETestsPORCN
Open Targets GeneticsENSG00000102312  [validation]
snp3D : Map Gene to Disease64840
BioCentury BCIQPORCN
ClinGenPORCN (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD64840
Pharm GKB GenePA134906089
Clinical trialPORCN
Miscellaneous
canSAR (ICR)PORCN (select the gene name)
HarmonizomePORCN
DataMed IndexPORCN
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePORCN
EVEXPORCN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 20:06:02 CEST 2020
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