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SCNN1D (sodium channel epithelial 1 delta subunit)

Identity

Other namesENaCd
ENaCdelta
SCNED
dNaCh
HGNC (Hugo) SCNN1D
LocusID (NCBI) 6339
Atlas_Id 42216
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 1215816 and ends at 1227409 bp from pter ( according to hg19-Feb_2009)

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)SCNN1D   10601
Cards
Entrez_Gene (NCBI)SCNN1D  6339  sodium channel epithelial 1 delta subunit
AliasesENaCd; ENaCdelta; SCNED; dNaCh
GeneCards (Weizmann)SCNN1D
Ensembl hg19 (Hinxton)ENSG00000162572 [Gene_View]  chr1:1215816-1227409 [Contig_View]  SCNN1D [Vega]
Ensembl hg38 (Hinxton)ENSG00000162572 [Gene_View]  chr1:1215816-1227409 [Contig_View]  SCNN1D [Vega]
ICGC DataPortalENSG00000162572
TCGA cBioPortalSCNN1D
AceView (NCBI)SCNN1D
Genatlas (Paris)SCNN1D
WikiGenes6339
SOURCE (Princeton)SCNN1D
Genomic and cartography
GoldenPath hg19 (UCSC)SCNN1D  -     chr1:1215816-1227409 +  1p36.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SCNN1D  -     1p36.33   [Description]    (hg38-Dec_2013)
EnsemblSCNN1D - 1p36.33 [CytoView hg19]  SCNN1D - 1p36.33 [CytoView hg38]
Mapping of homologs : NCBISCNN1D [Mapview hg19]  SCNN1D [Mapview hg38]
OMIM601328   
Gene and transcription
Genbank (Entrez)AA617657 AA622685 AK093239 AK093372 AK127357
RefSeq transcript (Entrez)NM_001130413 NM_002978
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929288
Consensus coding sequences : CCDS (NCBI)SCNN1D
Cluster EST : UnigeneHs.512681 [ NCBI ]
CGAP (NCI)Hs.512681
Alternative Splicing GalleryENSG00000162572
Gene ExpressionSCNN1D [ NCBI-GEO ]   SCNN1D [ EBI - ARRAY_EXPRESS ]   SCNN1D [ SEEK ]   SCNN1D [ MEM ]
Gene Expression Viewer (FireBrowse)SCNN1D [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6339
GTEX Portal (Tissue expression)SCNN1D
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51172 (Uniprot)
NextProtP51172  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51172
Splice isoforms : SwissVarP51172 (Swissvar)
PhosPhoSitePlusP51172
Domaine pattern : Prosite (Expaxy)ASC (PS01206)   
Domains : Interpro (EBI)ENaC    Na+channel_ASC    Na+channel_ASC_CS   
Domain families : Pfam (Sanger)ASC (PF00858)   
Domain families : Pfam (NCBI)pfam00858   
DMDM Disease mutations6339
Blocks (Seattle)SCNN1D
SuperfamilyP51172
Human Protein AtlasENSG00000162572
Peptide AtlasP51172
HPRD03209
IPIIPI00514599   IPI00334783   IPI00441997   IPI01022053   IPI01021234   IPI01018980   IPI00514605   
Protein Interaction databases
DIP (DOE-UCLA)P51172
IntAct (EBI)P51172
FunCoupENSG00000162572
BioGRIDSCNN1D
STRING (EMBL)SCNN1D
ZODIACSCNN1D
Ontologies - Pathways
QuickGOP51172
Ontology : AmiGOprotein binding  plasma membrane  plasma membrane  sodium ion transport  ligand-gated sodium channel activity  actin cytoskeleton  membrane  integral component of membrane  ion transmembrane transport  sodium ion transmembrane transport  sodium ion transmembrane transport  response to stimulus  sensory perception of taste  
Ontology : EGO-EBIprotein binding  plasma membrane  plasma membrane  sodium ion transport  ligand-gated sodium channel activity  actin cytoskeleton  membrane  integral component of membrane  ion transmembrane transport  sodium ion transmembrane transport  sodium ion transmembrane transport  response to stimulus  sensory perception of taste  
NDEx NetworkSCNN1D
Atlas of Cancer Signalling NetworkSCNN1D
Wikipedia pathwaysSCNN1D
Orthology - Evolution
OrthoDB6339
GeneTree (enSembl)ENSG00000162572
Phylogenetic Trees/Animal Genes : TreeFamSCNN1D
Homologs : HomoloGeneSCNN1D
Homology/Alignments : Family Browser (UCSC)SCNN1D
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSCNN1D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCNN1D
dbVarSCNN1D
ClinVarSCNN1D
1000_GenomesSCNN1D 
Exome Variant ServerSCNN1D
ExAC (Exome Aggregation Consortium)SCNN1D (select the gene name)
Genetic variants : HAPMAP6339
Genomic Variants (DGV)SCNN1D [DGVbeta]
Mutations
ICGC Data PortalSCNN1D 
TCGA Data PortalSCNN1D 
Broad Tumor PortalSCNN1D
OASIS PortalSCNN1D [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCNN1D 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SCNN1D
DgiDB (Drug Gene Interaction Database)SCNN1D
DoCM (Curated mutations)SCNN1D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCNN1D (select a term)
intoGenSCNN1D
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:1215816-1227409  ENSG00000162572
CONAN: Copy Number AnalysisSCNN1D 
Mutations and Diseases : HGMDSCNN1D
OMIM601328   
MedgenSCNN1D
Genetic Testing Registry SCNN1D
NextProtP51172 [Medical]
TSGene6339
GENETestsSCNN1D
Huge Navigator SCNN1D [HugePedia]
snp3D : Map Gene to Disease6339
BioCentury BCIQSCNN1D
ClinGenSCNN1D
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6339
Chemical/Pharm GKB GenePA35011
Clinical trialSCNN1D
Miscellaneous
canSAR (ICR)SCNN1D (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCNN1D
EVEXSCNN1D
GoPubMedSCNN1D
iHOPSCNN1D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:12:18 CEST 2016

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