Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

WFS1 (wolframin ER transmembrane glycoprotein)

Identity

Alias_namesDFNA6
DFNA14
DFNA38
Wolfram syndrome 1 (wolframin)
Alias_symbol (synonym)DIDMOAD
WFS
Other aliasCTRCT41
WFRS
WFSL
HGNC (Hugo) WFS1
LocusID (NCBI) 7466
Atlas_Id 56307
Location 4p16.1  [Link to chromosome band 4p16]
Location_base_pair Starts at 6269850 and ends at 6303265 bp from pter ( according to hg38-Dec_2013)

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)WFS1   12762
Cards
Entrez_Gene (NCBI)WFS1  7466  wolframin ER transmembrane glycoprotein
AliasesCTRCT41; WFRS; WFS; WFSL
GeneCards (Weizmann)WFS1
Ensembl hg19 (Hinxton)ENSG00000109501 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109501 [Gene_View]  chr4:6269850-6303265 [Contig_View]  WFS1 [Vega]
ICGC DataPortalENSG00000109501
TCGA cBioPortalWFS1
AceView (NCBI)WFS1
Genatlas (Paris)WFS1
WikiGenes7466
SOURCE (Princeton)WFS1
Genetics Home Reference (NIH)WFS1
Genomic and cartography
GoldenPath hg38 (UCSC)WFS1  -     chr4:6269850-6303265 +  4p16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)WFS1  -     4p16.1   [Description]    (hg19-Feb_2009)
EnsemblWFS1 - 4p16.1 [CytoView hg19]  WFS1 - 4p16.1 [CytoView hg38]
Mapping of homologs : NCBIWFS1 [Mapview hg19]  WFS1 [Mapview hg38]
OMIM116400   125853   222300   600965   606201   614296   
Gene and transcription
Genbank (Entrez)AF084481 AK295986 AK312897 BC030130 BC069213
RefSeq transcript (Entrez)NM_001145853 NM_006005
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)WFS1
Cluster EST : UnigeneHs.727283 [ NCBI ]
CGAP (NCI)Hs.727283
Alternative Splicing GalleryENSG00000109501
Gene ExpressionWFS1 [ NCBI-GEO ]   WFS1 [ EBI - ARRAY_EXPRESS ]   WFS1 [ SEEK ]   WFS1 [ MEM ]
Gene Expression Viewer (FireBrowse)WFS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7466
GTEX Portal (Tissue expression)WFS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO76024   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO76024  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO76024
Splice isoforms : SwissVarO76024
PhosPhoSitePlusO76024
Domains : Interpro (EBI)TPR-like_helical_dom    Wolframin    Wolframin_fam   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)WFS1
DMDM Disease mutations7466
Blocks (Seattle)WFS1
SuperfamilyO76024
Human Protein AtlasENSG00000109501
Peptide AtlasO76024
HPRD05864
IPIIPI00008711   IPI01013903   IPI00965034   
Protein Interaction databases
DIP (DOE-UCLA)O76024
IntAct (EBI)O76024
FunCoupENSG00000109501
BioGRIDWFS1
STRING (EMBL)WFS1
ZODIACWFS1
Ontologies - Pathways
QuickGOO76024
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  proteasome complex  kidney development  renal water homeostasis  protein binding  calmodulin binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  ER overload response  ER overload response  visual perception  sensory perception of sound  protein maturation by protein folding  integral component of endoplasmic reticulum membrane  dendrite  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  pancreas development  positive regulation of protein ubiquitination  positive regulation of protein ubiquitination  ubiquitin protein ligase binding  endoplasmic reticulum calcium ion homeostasis  activating transcription factor binding  response to endoplasmic reticulum stress  IRE1-mediated unfolded protein response  olfactory behavior  glucose homeostasis  negative regulation of programmed cell death  negative regulation of sequence-specific DNA binding transcription factor activity  negative regulation of neuron apoptotic process  positive regulation of adenylate cyclase activity  positive regulation of growth  calcium-dependent protein binding  protein stabilization  protein stabilization  protein stabilization  neurological system process  ATPase binding  positive regulation of protein metabolic process  positive regulation of calcium ion transport  calcium ion homeostasis  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  negative regulation of ATF6-mediated unfolded protein response  negative regulation of type B pancreatic cell apoptotic process  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  proteasome complex  kidney development  renal water homeostasis  protein binding  calmodulin binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  ER overload response  ER overload response  visual perception  sensory perception of sound  protein maturation by protein folding  integral component of endoplasmic reticulum membrane  dendrite  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  pancreas development  positive regulation of protein ubiquitination  positive regulation of protein ubiquitination  ubiquitin protein ligase binding  endoplasmic reticulum calcium ion homeostasis  activating transcription factor binding  response to endoplasmic reticulum stress  IRE1-mediated unfolded protein response  olfactory behavior  glucose homeostasis  negative regulation of programmed cell death  negative regulation of sequence-specific DNA binding transcription factor activity  negative regulation of neuron apoptotic process  positive regulation of adenylate cyclase activity  positive regulation of growth  calcium-dependent protein binding  protein stabilization  protein stabilization  protein stabilization  neurological system process  ATPase binding  positive regulation of protein metabolic process  positive regulation of calcium ion transport  calcium ion homeostasis  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  negative regulation of ATF6-mediated unfolded protein response  negative regulation of type B pancreatic cell apoptotic process  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkWFS1
Atlas of Cancer Signalling NetworkWFS1
Wikipedia pathwaysWFS1
Orthology - Evolution
OrthoDB7466
GeneTree (enSembl)ENSG00000109501
Phylogenetic Trees/Animal Genes : TreeFamWFS1
HOVERGENO76024
HOGENOMO76024
Homologs : HomoloGeneWFS1
Homology/Alignments : Family Browser (UCSC)WFS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWFS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WFS1
dbVarWFS1
ClinVarWFS1
1000_GenomesWFS1 
Exome Variant ServerWFS1
ExAC (Exome Aggregation Consortium)WFS1 (select the gene name)
Genetic variants : HAPMAP7466
Genomic Variants (DGV)WFS1 [DGVbeta]
DECIPHERWFS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisWFS1 
Mutations
ICGC Data PortalWFS1 
TCGA Data PortalWFS1 
Broad Tumor PortalWFS1
OASIS PortalWFS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWFS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDWFS1
LOVD (Leiden Open Variation Database)EURO-WABB PROJECT OPEN VARIATION DATABASE
BioMutasearch WFS1
DgiDB (Drug Gene Interaction Database)WFS1
DoCM (Curated mutations)WFS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WFS1 (select a term)
intoGenWFS1
Cancer3DWFS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116400    125853    222300    600965    606201    614296   
Orphanet812    23020    12046    14008   
MedgenWFS1
Genetic Testing Registry WFS1
NextProtO76024 [Medical]
TSGene7466
GENETestsWFS1
Target ValidationWFS1
Huge Navigator WFS1 [HugePedia]
snp3D : Map Gene to Disease7466
BioCentury BCIQWFS1
ClinGenWFS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7466
Chemical/Pharm GKB GenePA37365
Clinical trialWFS1
Miscellaneous
canSAR (ICR)WFS1 (select the gene name)
Probes
Litterature
PubMed167 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWFS1
EVEXWFS1
GoPubMedWFS1
iHOPWFS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 13:02:51 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.