Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NPHS1 (NPHS1, nephrin)

Identity

Alias_namesnephrosis 1
Alias_symbol (synonym)CNF
NPHN
Other aliasnephrin
HGNC (Hugo) NPHS1
LocusID (NCBI) 4868
Atlas_Id 56455
Location 19q13.12  [Link to chromosome band 19q13]
Location_base_pair Starts at 35825372 and ends at 35851993 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)NPHS1   7908
LRG (Locus Reference Genomic)LRG_693
Cards
Entrez_Gene (NCBI)NPHS1  4868  NPHS1, nephrin
AliasesCNF; NPHN; nephrin
GeneCards (Weizmann)NPHS1
Ensembl hg19 (Hinxton)ENSG00000161270 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161270 [Gene_View]  chr19:35825372-35851993 [Contig_View]  NPHS1 [Vega]
ICGC DataPortalENSG00000161270
TCGA cBioPortalNPHS1
AceView (NCBI)NPHS1
Genatlas (Paris)NPHS1
WikiGenes4868
SOURCE (Princeton)NPHS1
Genetics Home Reference (NIH)NPHS1
Genomic and cartography
GoldenPath hg38 (UCSC)NPHS1  -     chr19:35825372-35851993 -  19q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPHS1  -     19q13.12   [Description]    (hg19-Feb_2009)
EnsemblNPHS1 - 19q13.12 [CytoView hg19]  NPHS1 - 19q13.12 [CytoView hg38]
Mapping of homologs : NCBINPHS1 [Mapview hg19]  NPHS1 [Mapview hg38]
OMIM256300   602716   
Gene and transcription
Genbank (Entrez)AF035835 AF126957 AF190637 AK310731 BC156195
RefSeq transcript (Entrez)NM_004646
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPHS1
Cluster EST : UnigeneHs.122186 [ NCBI ]
CGAP (NCI)Hs.122186
Alternative Splicing GalleryENSG00000161270
Gene ExpressionNPHS1 [ NCBI-GEO ]   NPHS1 [ EBI - ARRAY_EXPRESS ]   NPHS1 [ SEEK ]   NPHS1 [ MEM ]
Gene Expression Viewer (FireBrowse)NPHS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4868
GTEX Portal (Tissue expression)NPHS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60500   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60500  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60500
Splice isoforms : SwissVarO60500
PhosPhoSitePlusO60500
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)CD80_C2-set    FN3_dom    Ig-like_dom    Ig-like_fold    Ig_sub    Ig_sub2    Ig_V-set   
Domain families : Pfam (Sanger)C2-set_2 (PF08205)    fn3 (PF00041)    V-set (PF07686)   
Domain families : Pfam (NCBI)pfam08205    pfam00041    pfam07686   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)NPHS1
DMDM Disease mutations4868
Blocks (Seattle)NPHS1
PDB (SRS)4ZRT   
PDB (PDBSum)4ZRT   
PDB (IMB)4ZRT   
PDB (RSDB)4ZRT   
Structural Biology KnowledgeBase4ZRT   
SCOP (Structural Classification of Proteins)4ZRT   
CATH (Classification of proteins structures)4ZRT   
SuperfamilyO60500
Human Protein AtlasENSG00000161270
Peptide AtlasO60500
HPRD04094
IPIIPI00747010   IPI00219898   
Protein Interaction databases
DIP (DOE-UCLA)O60500
IntAct (EBI)O60500
FunCoupENSG00000161270
BioGRIDNPHS1
STRING (EMBL)NPHS1
ZODIACNPHS1
Ontologies - Pathways
QuickGOO60500
Ontology : AmiGOprotein binding  intracellular  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell adhesion  JNK cascade  skeletal muscle tissue development  myoblast fusion  excretion  myosin binding  positive regulation of actin filament polymerization  glomerular basement membrane development  protein localization to synapse  slit diaphragm  cell projection  regulation of excretion  extracellular exosome  glomerular visceral epithelial cell development  
Ontology : EGO-EBIprotein binding  intracellular  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell adhesion  JNK cascade  skeletal muscle tissue development  myoblast fusion  excretion  myosin binding  positive regulation of actin filament polymerization  glomerular basement membrane development  protein localization to synapse  slit diaphragm  cell projection  regulation of excretion  extracellular exosome  glomerular visceral epithelial cell development  
NDEx NetworkNPHS1
Atlas of Cancer Signalling NetworkNPHS1
Wikipedia pathwaysNPHS1
Orthology - Evolution
OrthoDB4868
GeneTree (enSembl)ENSG00000161270
Phylogenetic Trees/Animal Genes : TreeFamNPHS1
HOVERGENO60500
HOGENOMO60500
Homologs : HomoloGeneNPHS1
Homology/Alignments : Family Browser (UCSC)NPHS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPHS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPHS1
dbVarNPHS1
ClinVarNPHS1
1000_GenomesNPHS1 
Exome Variant ServerNPHS1
ExAC (Exome Aggregation Consortium)NPHS1 (select the gene name)
Genetic variants : HAPMAP4868
Genomic Variants (DGV)NPHS1 [DGVbeta]
DECIPHERNPHS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPHS1 
Mutations
ICGC Data PortalNPHS1 
TCGA Data PortalNPHS1 
Broad Tumor PortalNPHS1
OASIS PortalNPHS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPHS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPHS1
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch NPHS1
DgiDB (Drug Gene Interaction Database)NPHS1
DoCM (Curated mutations)NPHS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPHS1 (select a term)
intoGenNPHS1
Cancer3DNPHS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM256300    602716   
Orphanet4048    12194    12193    12192    12191   
MedgenNPHS1
Genetic Testing Registry NPHS1
NextProtO60500 [Medical]
TSGene4868
GENETestsNPHS1
Target ValidationNPHS1
Huge Navigator NPHS1 [HugePedia]
snp3D : Map Gene to Disease4868
BioCentury BCIQNPHS1
ClinGenNPHS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4868
Chemical/Pharm GKB GenePA31709
Clinical trialNPHS1
Miscellaneous
canSAR (ICR)NPHS1 (select the gene name)
Probes
Litterature
PubMed132 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPHS1
EVEXNPHS1
GoPubMedNPHS1
iHOPNPHS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 14:01:53 CEST 2017

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