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FRMD7 (FERM domain containing 7)

Identity

Alias_namesNYS
NYS1
nystagmus 1
Alias_symbol (synonym)FLJ43346
Other aliasXIPAN
HGNC (Hugo) FRMD7
LocusID (NCBI) 90167
Atlas_Id 53660
Location Xq26.2  [Link to chromosome band Xq26]
Location_base_pair Starts at 131211014 and ends at 131262048 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)FRMD7   8079
LRG (Locus Reference Genomic)LRG_867
Cards
Entrez_Gene (NCBI)FRMD7  90167  FERM domain containing 7
AliasesNYS; NYS1; XIPAN
GeneCards (Weizmann)FRMD7
Ensembl hg19 (Hinxton)ENSG00000165694 [Gene_View]  chrX:131211014-131262048 [Contig_View]  FRMD7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000165694 [Gene_View]  chrX:131211014-131262048 [Contig_View]  FRMD7 [Vega]
ICGC DataPortalENSG00000165694
TCGA cBioPortalFRMD7
AceView (NCBI)FRMD7
Genatlas (Paris)FRMD7
WikiGenes90167
SOURCE (Princeton)FRMD7
Genetics Home Reference (NIH)FRMD7
Genomic and cartography
GoldenPath hg19 (UCSC)FRMD7  -     chrX:131211014-131262048 -  Xq26.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FRMD7  -     Xq26.2   [Description]    (hg38-Dec_2013)
EnsemblFRMD7 - Xq26.2 [CytoView hg19]  FRMD7 - Xq26.2 [CytoView hg38]
Mapping of homologs : NCBIFRMD7 [Mapview hg19]  FRMD7 [Mapview hg38]
OMIM300628   310700   
Gene and transcription
Genbank (Entrez)AI492387 AK125336 AL161984 BC114371 DB511321
RefSeq transcript (Entrez)NM_001306193 NM_194277
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012347 NT_011786 NW_004929446
Consensus coding sequences : CCDS (NCBI)FRMD7
Cluster EST : UnigeneHs.170776 [ NCBI ]
CGAP (NCI)Hs.170776
Alternative Splicing GalleryENSG00000165694
Gene ExpressionFRMD7 [ NCBI-GEO ]   FRMD7 [ EBI - ARRAY_EXPRESS ]   FRMD7 [ SEEK ]   FRMD7 [ MEM ]
Gene Expression Viewer (FireBrowse)FRMD7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90167
GTEX Portal (Tissue expression)FRMD7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZUT3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZUT3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZUT3
Splice isoforms : SwissVarQ6ZUT3
PhosPhoSitePlusQ6ZUT3
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band_41_domain    FERM-adjacent    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_CS    FERM_domain    FERM_N    FERM_PH-like_C    PH_dom-like    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)FA (PF08736)    FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)   
Domain families : Pfam (NCBI)pfam08736    pfam09380    pfam00373    pfam09379   
Domain families : Smart (EMBL)B41 (SM00295)  
Conserved Domain (NCBI)FRMD7
DMDM Disease mutations90167
Blocks (Seattle)FRMD7
SuperfamilyQ6ZUT3
Human Protein AtlasENSG00000165694
Peptide AtlasQ6ZUT3
HPRD06624
IPIIPI00375566   IPI00946784   IPI01015261   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZUT3
IntAct (EBI)Q6ZUT3
FunCoupENSG00000165694
BioGRIDFRMD7
STRING (EMBL)FRMD7
ZODIACFRMD7
Ontologies - Pathways
QuickGOQ6ZUT3
Ontology : AmiGOmolecular_function  extracellular space  cytoskeleton  positive regulation of lamellipodium assembly  regulation of neuron projection development  growth cone  negative regulation of protein binding  neuron projection  neuronal cell body  positive regulation of small GTPase mediated signal transduction  negative regulation of stress fiber assembly  
Ontology : EGO-EBImolecular_function  extracellular space  cytoskeleton  positive regulation of lamellipodium assembly  regulation of neuron projection development  growth cone  negative regulation of protein binding  neuron projection  neuronal cell body  positive regulation of small GTPase mediated signal transduction  negative regulation of stress fiber assembly  
NDEx NetworkFRMD7
Atlas of Cancer Signalling NetworkFRMD7
Wikipedia pathwaysFRMD7
Orthology - Evolution
OrthoDB90167
GeneTree (enSembl)ENSG00000165694
Phylogenetic Trees/Animal Genes : TreeFamFRMD7
HOVERGENQ6ZUT3
HOGENOMQ6ZUT3
Homologs : HomoloGeneFRMD7
Homology/Alignments : Family Browser (UCSC)FRMD7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRMD7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRMD7
dbVarFRMD7
ClinVarFRMD7
1000_GenomesFRMD7 
Exome Variant ServerFRMD7
ExAC (Exome Aggregation Consortium)FRMD7 (select the gene name)
Genetic variants : HAPMAP90167
Genomic Variants (DGV)FRMD7 [DGVbeta]
DECIPHER (Syndromes)X:131211014-131262048  ENSG00000165694
CONAN: Copy Number AnalysisFRMD7 
Mutations
ICGC Data PortalFRMD7 
TCGA Data PortalFRMD7 
Broad Tumor PortalFRMD7
OASIS PortalFRMD7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFRMD7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFRMD7
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)X-chromosome gene database
BioMutasearch FRMD7
DgiDB (Drug Gene Interaction Database)FRMD7
DoCM (Curated mutations)FRMD7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FRMD7 (select a term)
intoGenFRMD7
Cancer3DFRMD7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300628    310700   
Orphanet
MedgenFRMD7
Genetic Testing Registry FRMD7
NextProtQ6ZUT3 [Medical]
TSGene90167
GENETestsFRMD7
Huge Navigator FRMD7 [HugePedia]
snp3D : Map Gene to Disease90167
BioCentury BCIQFRMD7
ClinGenFRMD7 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90167
Chemical/Pharm GKB GenePA162388934
Clinical trialFRMD7
Miscellaneous
canSAR (ICR)FRMD7 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFRMD7
EVEXFRMD7
GoPubMedFRMD7
iHOPFRMD7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:01:41 CEST 2017

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