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NUFIP1 (nuclear fragile X mental retardation protein interacting protein 1)

Identity

Alias_namesnuclear fragile X mental retardation protein interacting protein 1
Alias_symbol (synonym)NUFIP
Other aliasbA540M5.1
HGNC (Hugo) NUFIP1
LocusID (NCBI) 26747
Atlas_Id 71036
Location 13q14.12  [Link to chromosome band 13q14]
Location_base_pair Starts at 45513384 and ends at 45563613 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)NUFIP1   8057
Cards
Entrez_Gene (NCBI)NUFIP1  26747  nuclear fragile X mental retardation protein interacting protein 1
AliasesNUFIP; bA540M5.1
GeneCards (Weizmann)NUFIP1
Ensembl hg19 (Hinxton)ENSG00000083635 [Gene_View]  chr13:45513384-45563613 [Contig_View]  NUFIP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000083635 [Gene_View]  chr13:45513384-45563613 [Contig_View]  NUFIP1 [Vega]
ICGC DataPortalENSG00000083635
TCGA cBioPortalNUFIP1
AceView (NCBI)NUFIP1
Genatlas (Paris)NUFIP1
WikiGenes26747
SOURCE (Princeton)NUFIP1
Genetics Home Reference (NIH)NUFIP1
Genomic and cartography
GoldenPath hg19 (UCSC)NUFIP1  -     chr13:45513384-45563613 -  13q14.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NUFIP1  -     13q14.12   [Description]    (hg38-Dec_2013)
EnsemblNUFIP1 - 13q14.12 [CytoView hg19]  NUFIP1 - 13q14.12 [CytoView hg38]
Mapping of homologs : NCBINUFIP1 [Mapview hg19]  NUFIP1 [Mapview hg38]
OMIM604354   
Gene and transcription
Genbank (Entrez)AF159548 AK314242 BC001436 BC017745 DA701559
RefSeq transcript (Entrez)NM_012345
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_032080 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)NUFIP1
Cluster EST : UnigeneHs.525006 [ NCBI ]
CGAP (NCI)Hs.525006
Alternative Splicing GalleryENSG00000083635
Gene ExpressionNUFIP1 [ NCBI-GEO ]   NUFIP1 [ EBI - ARRAY_EXPRESS ]   NUFIP1 [ SEEK ]   NUFIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)NUFIP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26747
GTEX Portal (Tissue expression)NUFIP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHK0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHK0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHK0
Splice isoforms : SwissVarQ9UHK0
PhosPhoSitePlusQ9UHK0
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)NUFIP1_cons_dom    Znf_C2H2    Znf_C2H2-like    Znf_C2H2_jaz   
Domain families : Pfam (Sanger)NUFIP1 (PF10453)    zf-C2H2_jaz (PF12171)   
Domain families : Pfam (NCBI)pfam10453    pfam12171   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)NUFIP1
DMDM Disease mutations26747
Blocks (Seattle)NUFIP1
SuperfamilyQ9UHK0
Human Protein AtlasENSG00000083635
Peptide AtlasQ9UHK0
HPRD05073
IPIIPI00017630   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHK0
IntAct (EBI)Q9UHK0
FunCoupENSG00000083635
BioGRIDNUFIP1
STRING (EMBL)NUFIP1
ZODIACNUFIP1
Ontologies - Pathways
QuickGOQ9UHK0
Ontology : AmiGObox C/D snoRNP assembly  DNA binding  RNA binding  protein binding  nucleus  nucleoplasm  perichromatin fibrils  nucleolus  RNA processing  transcription elongation factor complex  nuclear matrix  cytosolic ribosome  snoRNA binding  protein binding, bridging  identical protein binding  protein complex  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  presynaptic active zone  pre-snoRNP complex  
Ontology : EGO-EBIbox C/D snoRNP assembly  DNA binding  RNA binding  protein binding  nucleus  nucleoplasm  perichromatin fibrils  nucleolus  RNA processing  transcription elongation factor complex  nuclear matrix  cytosolic ribosome  snoRNA binding  protein binding, bridging  identical protein binding  protein complex  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  presynaptic active zone  pre-snoRNP complex  
NDEx NetworkNUFIP1
Atlas of Cancer Signalling NetworkNUFIP1
Wikipedia pathwaysNUFIP1
Orthology - Evolution
OrthoDB26747
GeneTree (enSembl)ENSG00000083635
Phylogenetic Trees/Animal Genes : TreeFamNUFIP1
HOVERGENQ9UHK0
HOGENOMQ9UHK0
Homologs : HomoloGeneNUFIP1
Homology/Alignments : Family Browser (UCSC)NUFIP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUFIP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUFIP1
dbVarNUFIP1
ClinVarNUFIP1
1000_GenomesNUFIP1 
Exome Variant ServerNUFIP1
ExAC (Exome Aggregation Consortium)NUFIP1 (select the gene name)
Genetic variants : HAPMAP26747
Genomic Variants (DGV)NUFIP1 [DGVbeta]
DECIPHER (Syndromes)13:45513384-45563613  ENSG00000083635
CONAN: Copy Number AnalysisNUFIP1 
Mutations
ICGC Data PortalNUFIP1 
TCGA Data PortalNUFIP1 
Broad Tumor PortalNUFIP1
OASIS PortalNUFIP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNUFIP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNUFIP1
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
BioMutasearch NUFIP1
DgiDB (Drug Gene Interaction Database)NUFIP1
DoCM (Curated mutations)NUFIP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUFIP1 (select a term)
intoGenNUFIP1
Cancer3DNUFIP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604354   
Orphanet
MedgenNUFIP1
Genetic Testing Registry NUFIP1
NextProtQ9UHK0 [Medical]
TSGene26747
GENETestsNUFIP1
Huge Navigator NUFIP1 [HugePedia]
snp3D : Map Gene to Disease26747
BioCentury BCIQNUFIP1
ClinGenNUFIP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26747
Chemical/Pharm GKB GenePA31843
Clinical trialNUFIP1
Miscellaneous
canSAR (ICR)NUFIP1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNUFIP1
EVEXNUFIP1
GoPubMedNUFIP1
iHOPNUFIP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:35:35 CET 2017

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