Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NPHP3 (nephronophthisis 3 (adolescent))

Identity

Alias_namesnephronophthisis 3 (adolescent)
Alias_symbol (synonym)NPH3
KIAA2000
FLJ30691
FLJ36696
MKS7
SLSN3
CFAP31
Other aliasRHPD
RHPD1
HGNC (Hugo) NPHP3
LocusID (NCBI) 27031
Atlas_Id 70924
Location 3q22.1  [Link to chromosome band 3q22]
Location_base_pair Starts at 132399453 and ends at 132441303 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LAMC3 (9q34.12) / NPHP3 (3q22.1)NPHP3 (3q22.1) / ACAD11 (3q22.1)NPHP3 (3q22.1) / C10orf11 (10q22.2)
VPS8 (3q27.2) / NPHP3 (3q22.1)VPS8 NPHP3LAMC3 NPHP3

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)NPHP3   7907
Cards
Entrez_Gene (NCBI)NPHP3  27031  nephronophthisis 3 (adolescent)
AliasesCFAP31; MKS7; NPH3; RHPD; 
RHPD1; SLSN3
GeneCards (Weizmann)NPHP3
Ensembl hg19 (Hinxton)ENSG00000113971 [Gene_View]  chr3:132399453-132441303 [Contig_View]  NPHP3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000113971 [Gene_View]  chr3:132399453-132441303 [Contig_View]  NPHP3 [Vega]
ICGC DataPortalENSG00000113971
TCGA cBioPortalNPHP3
AceView (NCBI)NPHP3
Genatlas (Paris)NPHP3
WikiGenes27031
SOURCE (Princeton)NPHP3
Genetics Home Reference (NIH)NPHP3
Genomic and cartography
GoldenPath hg19 (UCSC)NPHP3  -     chr3:132399453-132441303 -  3q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NPHP3  -     3q22.1   [Description]    (hg38-Dec_2013)
EnsemblNPHP3 - 3q22.1 [CytoView hg19]  NPHP3 - 3q22.1 [CytoView hg38]
Mapping of homologs : NCBINPHP3 [Mapview hg19]  NPHP3 [Mapview hg38]
OMIM208540   267010   604387   608002   
Gene and transcription
Genbank (Entrez)AB056657 AI200954 AK055253 AK055893 AK092910
RefSeq transcript (Entrez)NM_153240
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_008130 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)NPHP3
Cluster EST : UnigeneHs.511991 [ NCBI ]
CGAP (NCI)Hs.511991
Alternative Splicing GalleryENSG00000113971
Gene ExpressionNPHP3 [ NCBI-GEO ]   NPHP3 [ EBI - ARRAY_EXPRESS ]   NPHP3 [ SEEK ]   NPHP3 [ MEM ]
Gene Expression Viewer (FireBrowse)NPHP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27031
GTEX Portal (Tissue expression)NPHP3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z494   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z494  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z494
Splice isoforms : SwissVarQ7Z494
PhosPhoSitePlusQ7Z494
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)P-loop_NTPase    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)TPR_7 (PF13176)   
Domain families : Pfam (NCBI)pfam13176   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)NPHP3
DMDM Disease mutations27031
Blocks (Seattle)NPHP3
SuperfamilyQ7Z494
Human Protein AtlasENSG00000113971
Peptide AtlasQ7Z494
HPRD06417
Protein Interaction databases
DIP (DOE-UCLA)Q7Z494
IntAct (EBI)Q7Z494
FunCoupENSG00000113971
BioGRIDNPHP3
STRING (EMBL)NPHP3
ZODIACNPHP3
Ontologies - Pathways
QuickGOQ7Z494
Ontology : AmiGOkidney development  heart looping  atrial septum development  protein binding  cytosol  cilium  organelle organization  determination of left/right symmetry  Wnt signaling pathway  lung development  determination of pancreatic left/right asymmetry  photoreceptor cell maintenance  maintenance of organ identity  convergent extension involved in gastrulation  cilium morphogenesis  epithelial cilium movement involved in determination of left/right asymmetry  kidney morphogenesis  determination of intestine left/right asymmetry  determination of stomach left/right asymmetry  determination of liver left/right asymmetry  ureter development  primary cilium  primary cilium  negative regulation of canonical Wnt signaling pathway  regulation of Wnt signaling pathway, planar cell polarity pathway  regulation of planar cell polarity pathway involved in neural tube closure  
Ontology : EGO-EBIkidney development  heart looping  atrial septum development  protein binding  cytosol  cilium  organelle organization  determination of left/right symmetry  Wnt signaling pathway  lung development  determination of pancreatic left/right asymmetry  photoreceptor cell maintenance  maintenance of organ identity  convergent extension involved in gastrulation  cilium morphogenesis  epithelial cilium movement involved in determination of left/right asymmetry  kidney morphogenesis  determination of intestine left/right asymmetry  determination of stomach left/right asymmetry  determination of liver left/right asymmetry  ureter development  primary cilium  primary cilium  negative regulation of canonical Wnt signaling pathway  regulation of Wnt signaling pathway, planar cell polarity pathway  regulation of planar cell polarity pathway involved in neural tube closure  
NDEx NetworkNPHP3
Atlas of Cancer Signalling NetworkNPHP3
Wikipedia pathwaysNPHP3
Orthology - Evolution
OrthoDB27031
GeneTree (enSembl)ENSG00000113971
Phylogenetic Trees/Animal Genes : TreeFamNPHP3
HOVERGENQ7Z494
HOGENOMQ7Z494
Homologs : HomoloGeneNPHP3
Homology/Alignments : Family Browser (UCSC)NPHP3
Gene fusions - Rearrangements
Fusion: TCGAVPS8 NPHP3
Fusion: TCGALAMC3 NPHP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPHP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPHP3
dbVarNPHP3
ClinVarNPHP3
1000_GenomesNPHP3 
Exome Variant ServerNPHP3
ExAC (Exome Aggregation Consortium)NPHP3 (select the gene name)
Genetic variants : HAPMAP27031
Genomic Variants (DGV)NPHP3 [DGVbeta]
DECIPHER (Syndromes)3:132399453-132441303  ENSG00000113971
CONAN: Copy Number AnalysisNPHP3 
Mutations
ICGC Data PortalNPHP3 
TCGA Data PortalNPHP3 
Broad Tumor PortalNPHP3
OASIS PortalNPHP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPHP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPHP3
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)Eye diseases - LOVD
BioMutasearch NPHP3
DgiDB (Drug Gene Interaction Database)NPHP3
DoCM (Curated mutations)NPHP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPHP3 (select a term)
intoGenNPHP3
Cancer3DNPHP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM208540    267010    604387    608002   
Orphanet2725    2824    20908    12425   
MedgenNPHP3
Genetic Testing Registry NPHP3
NextProtQ7Z494 [Medical]
TSGene27031
GENETestsNPHP3
Huge Navigator NPHP3 [HugePedia]
snp3D : Map Gene to Disease27031
BioCentury BCIQNPHP3
ClinGenNPHP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27031
Chemical/Pharm GKB GenePA31708
Clinical trialNPHP3
Miscellaneous
canSAR (ICR)NPHP3 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPHP3
EVEXNPHP3
GoPubMedNPHP3
iHOPNPHP3
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 : Tue Mar 14 12:35:13 CET 2017

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