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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

Donate (in Euros)

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NDP (Norrie disease (pseudoglioma))

Identity

Other namesEVR2
FEVR
ND
HGNC (Hugo) NDP
LocusID (NCBI) 4693
Location Xp11.3
Location_base_pair Starts at 43808024 and ends at 43832921 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

External links

Nomenclature
HGNC (Hugo)NDP   7678
Cards
Entrez_Gene (NCBI)NDP  4693  Norrie disease (pseudoglioma)
GeneCards (Weizmann)NDP
Ensembl hg19 (Hinxton)ENSG00000124479 [Gene_View]  chrX:43808024-43832921 [Contig_View]  NDP [Vega]
Ensembl hg38 (Hinxton)ENSG00000124479 [Gene_View]  chrX:43808024-43832921 [Contig_View]  NDP [Vega]
ICGC DataPortalENSG00000124479
cBioPortalNDP
AceView (NCBI)NDP
Genatlas (Paris)NDP
WikiGenes4693
SOURCE (Princeton)NDP
Genomic and cartography
GoldenPath hg19 (UCSC)NDP  -     chrX:43808024-43832921 -  Xp11.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NDP  -     Xp11.3   [Description]    (hg38-Dec_2013)
EnsemblNDP - Xp11.3 [CytoView hg19]  NDP - Xp11.3 [CytoView hg38]
Mapping of homologs : NCBINDP [Mapview hg19]  NDP [Mapview hg38]
OMIM300658   305390   310600   
Gene and transcription
Genbank (Entrez)AK313409 AM392592 BC029901 BE139596 DA714180
RefSeq transcript (Entrez)NM_000266
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_009832 NT_079573 NW_001842361 NW_004929439
Consensus coding sequences : CCDS (NCBI)NDP
Cluster EST : UnigeneHs.522615 [ NCBI ]
CGAP (NCI)Hs.522615
Alternative Splicing : Fast-db (Paris)GSHG0032056
Alternative Splicing GalleryENSG00000124479
Gene ExpressionNDP [ NCBI-GEO ]     NDP [ SEEK ]   NDP [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00604 (Uniprot)
NextProtQ00604  [Medical]
With graphics : InterProQ00604
Splice isoforms : SwissVarQ00604 (Swissvar)
Domaine pattern : Prosite (Expaxy)CTCK_1 (PS01185)    CTCK_2 (PS01225)   
Domains : Interpro (EBI)Cys_knot_C    Glyco_hormone_CN    Norrie_dis   
Related proteins : CluSTrQ00604
Domain families : Pfam (Sanger)Cys_knot (PF00007)   
Domain families : Pfam (NCBI)pfam00007   
Domain families : Smart (EMBL)CT (SM00041)  
DMDM Disease mutations4693
Blocks (Seattle)Q00604
PDB (SRS)4MY2   
PDB (PDBSum)4MY2   
PDB (IMB)4MY2   
PDB (RSDB)4MY2   
Human Protein AtlasENSG00000124479
Peptide AtlasQ00604
HPRD02404
IPIIPI00024054   
Protein Interaction databases
DIP (DOE-UCLA)Q00604
IntAct (EBI)Q00604
FunCoupENSG00000124479
BioGRIDNDP
IntegromeDBNDP
STRING (EMBL)NDP
Ontologies - Pathways
QuickGOQ00604
Ontology : AmiGOplacenta development  frizzled binding  cytokine activity  protein binding  extracellular space  vacuole organization  signal transduction  cell-cell signaling  nervous system development  visual perception  sensory perception of sound  growth factor activity  cell proliferation  cell surface  Wnt signaling pathway  extracellular matrix  extracellular matrix-cell signaling  protein homodimerization activity  positive regulation of transcription, DNA-templated  positive regulation of sequence-specific DNA binding transcription factor activity  canonical Wnt signaling pathway  retina vasculature morphogenesis in camera-type eye  
Ontology : EGO-EBIplacenta development  frizzled binding  cytokine activity  protein binding  extracellular space  vacuole organization  signal transduction  cell-cell signaling  nervous system development  visual perception  sensory perception of sound  growth factor activity  cell proliferation  cell surface  Wnt signaling pathway  extracellular matrix  extracellular matrix-cell signaling  protein homodimerization activity  positive regulation of transcription, DNA-templated  positive regulation of sequence-specific DNA binding transcription factor activity  canonical Wnt signaling pathway  retina vasculature morphogenesis in camera-type eye  
Protein Interaction DatabaseNDP
DoCM (Curated mutations)NDP
Wikipedia pathwaysNDP
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNDP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDP
dbVarNDP
ClinVarNDP
1000_GenomesNDP 
Exome Variant ServerNDP
SNP (GeneSNP Utah)NDP
SNP : HGBaseNDP
Genetic variants : HAPMAPNDP
Genomic Variants (DGV)NDP [DGVbeta]
Mutations
ICGC Data PortalENSG00000124479 
Somatic Mutations in Cancer : COSMICNDP 
CONAN: Copy Number AnalysisNDP 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:43808024-43832921
Mutations and Diseases : HGMDNDP
OMIM300658    305390    310600   
MedgenNDP
NextProtQ00604 [Medical]
GENETestsNDP
Disease Genetic AssociationNDP
Huge Navigator NDP [HugePedia]  NDP [HugeCancerGEM]
snp3D : Map Gene to Disease4693
DGIdb (Drug Gene Interaction db)NDP
General knowledge
Homologs : HomoloGeneNDP
Homology/Alignments : Family Browser (UCSC)NDP
Phylogenetic Trees/Animal Genes : TreeFamNDP
Chemical/Protein Interactions : CTD4693
Chemical/Pharm GKB GenePA31481
Clinical trialNDP
Cancer Resource (Charite)ENSG00000124479
Other databases
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
CoreMineNDP
GoPubMedNDP
iHOPNDP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 14 17:38:39 CET 2015

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