Atlas of Genetics and Cytogenetics in Oncology and Haematology


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POFUT1 (protein O-fucosyltransferase 1)

Identity

Alias_symbol (synonym)O-FUT
O-Fuc-T
KIAA0180
FUT12
Other aliasDDD2
O-FucT-1
OFUCT1
HGNC (Hugo) POFUT1
LocusID (NCBI) 23509
Atlas_Id 47518
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 32207893 and ends at 32238664 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COMMD2 (3q25.1) / POFUT1 (20q11.21)POFUT1 (20q11.21) / CCDC50 (3q28)POFUT1 (20q11.21) / PSEN1 (14q24.2)
POFUT1 (20q11.21) / TM9SF4 (20q11.21)PSEN1 (14q24.2) / POFUT1 (20q11.21)

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)POFUT1   14988
Cards
Entrez_Gene (NCBI)POFUT1  23509  protein O-fucosyltransferase 1
AliasesDDD2; FUT12; O-FUT; O-Fuc-T; 
O-FucT-1; OFUCT1
GeneCards (Weizmann)POFUT1
Ensembl hg19 (Hinxton)ENSG00000101346 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101346 [Gene_View]  chr20:32207893-32238664 [Contig_View]  POFUT1 [Vega]
ICGC DataPortalENSG00000101346
TCGA cBioPortalPOFUT1
AceView (NCBI)POFUT1
Genatlas (Paris)POFUT1
WikiGenes23509
SOURCE (Princeton)POFUT1
Genetics Home Reference (NIH)POFUT1
Genomic and cartography
GoldenPath hg38 (UCSC)POFUT1  -     chr20:32207893-32238664 +  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POFUT1  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblPOFUT1 - 20q11.21 [CytoView hg19]  POFUT1 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIPOFUT1 [Mapview hg19]  POFUT1 [Mapview hg38]
OMIM607491   615327   
Gene and transcription
Genbank (Entrez)AF375884 AK291033 AK300810 AK303068 AL832023
RefSeq transcript (Entrez)NM_015352 NM_172236
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POFUT1
Cluster EST : UnigeneHs.472409 [ NCBI ]
CGAP (NCI)Hs.472409
Alternative Splicing GalleryENSG00000101346
Gene ExpressionPOFUT1 [ NCBI-GEO ]   POFUT1 [ EBI - ARRAY_EXPRESS ]   POFUT1 [ SEEK ]   POFUT1 [ MEM ]
Gene Expression Viewer (FireBrowse)POFUT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23509
GTEX Portal (Tissue expression)POFUT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H488   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H488  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H488
Splice isoforms : SwissVarQ9H488
Catalytic activity : Enzyme2.4.1.221 [ Enzyme-Expasy ]   2.4.1.2212.4.1.221 [ IntEnz-EBI ]   2.4.1.221 [ BRENDA ]   2.4.1.221 [ KEGG ]   
PhosPhoSitePlusQ9H488
Domains : Interpro (EBI)GDP-Fuc_O-FucTrfase   
Domain families : Pfam (Sanger)O-FucT (PF10250)   
Domain families : Pfam (NCBI)pfam10250   
Conserved Domain (NCBI)POFUT1
DMDM Disease mutations23509
Blocks (Seattle)POFUT1
SuperfamilyQ9H488
Human Protein AtlasENSG00000101346
Peptide AtlasQ9H488
HPRD06319
IPIIPI00058192   IPI00218176   IPI01014471   
Protein Interaction databases
DIP (DOE-UCLA)Q9H488
IntAct (EBI)Q9H488
FunCoupENSG00000101346
BioGRIDPOFUT1
STRING (EMBL)POFUT1
ZODIACPOFUT1
Ontologies - Pathways
QuickGOQ9H488
Ontology : AmiGOangiogenesis  somitogenesis  endoplasmic reticulum  fucose metabolic process  regulation of transcription, DNA-templated  protein O-linked glycosylation  Notch signaling pathway  nervous system development  heart development  fucosyltransferase activity  embryo development  membrane  O-glycan processing  protein O-linked fucosylation  peptide-O-fucosyltransferase activity  peptide-O-fucosyltransferase activity  
Ontology : EGO-EBIangiogenesis  somitogenesis  endoplasmic reticulum  fucose metabolic process  regulation of transcription, DNA-templated  protein O-linked glycosylation  Notch signaling pathway  nervous system development  heart development  fucosyltransferase activity  embryo development  membrane  O-glycan processing  protein O-linked fucosylation  peptide-O-fucosyltransferase activity  peptide-O-fucosyltransferase activity  
Pathways : KEGGOther types of O-glycan biosynthesis   
NDEx NetworkPOFUT1
Atlas of Cancer Signalling NetworkPOFUT1
Wikipedia pathwaysPOFUT1
Orthology - Evolution
OrthoDB23509
GeneTree (enSembl)ENSG00000101346
Phylogenetic Trees/Animal Genes : TreeFamPOFUT1
HOVERGENQ9H488
HOGENOMQ9H488
Homologs : HomoloGenePOFUT1
Homology/Alignments : Family Browser (UCSC)POFUT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOFUT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POFUT1
dbVarPOFUT1
ClinVarPOFUT1
1000_GenomesPOFUT1 
Exome Variant ServerPOFUT1
ExAC (Exome Aggregation Consortium)POFUT1 (select the gene name)
Genetic variants : HAPMAP23509
Genomic Variants (DGV)POFUT1 [DGVbeta]
DECIPHERPOFUT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOFUT1 
Mutations
ICGC Data PortalPOFUT1 
TCGA Data PortalPOFUT1 
Broad Tumor PortalPOFUT1
OASIS PortalPOFUT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOFUT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOFUT1
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 POFUT1
DgiDB (Drug Gene Interaction Database)POFUT1
DoCM (Curated mutations)POFUT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POFUT1 (select a term)
intoGenPOFUT1
Cancer3DPOFUT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607491    615327   
Orphanet11171   
MedgenPOFUT1
Genetic Testing Registry POFUT1
NextProtQ9H488 [Medical]
TSGene23509
GENETestsPOFUT1
Target ValidationPOFUT1
Huge Navigator POFUT1 [HugePedia]
snp3D : Map Gene to Disease23509
BioCentury BCIQPOFUT1
ClinGenPOFUT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23509
Chemical/Pharm GKB GenePA33495
Clinical trialPOFUT1
Miscellaneous
canSAR (ICR)POFUT1 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOFUT1
EVEXPOFUT1
GoPubMedPOFUT1
iHOPPOFUT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:50:10 CEST 2017

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