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RFLNA (refilin A)

Identity

Alias_namesFAM101A
family with sequence similarity 101
Alias_symbol (synonym)FLJ44614
Cfm2
RefilinA
Other aliasCFM2
HGNC (Hugo) RFLNA
LocusID (NCBI) 144347
Atlas_Id 55904
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 124773710 and ends at 124800570 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)RFLNA   27051
Cards
Entrez_Gene (NCBI)RFLNA  144347  refilin A
AliasesCFM2; FAM101A
GeneCards (Weizmann)RFLNA
Ensembl hg19 (Hinxton)ENSG00000178882 [Gene_View]  chr12:124773710-124800570 [Contig_View]  RFLNA [Vega]
Ensembl hg38 (Hinxton)ENSG00000178882 [Gene_View]  chr12:124773710-124800570 [Contig_View]  RFLNA [Vega]
ICGC DataPortalENSG00000178882
TCGA cBioPortalRFLNA
AceView (NCBI)RFLNA
Genatlas (Paris)RFLNA
WikiGenes144347
SOURCE (Princeton)RFLNA
Genetics Home Reference (NIH)RFLNA
Genomic and cartography
GoldenPath hg19 (UCSC)RFLNA  -     chr12:124773710-124800570 +  12q24.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RFLNA  -     12q24.31   [Description]    (hg38-Dec_2013)
EnsemblRFLNA - 12q24.31 [CytoView hg19]  RFLNA - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIRFLNA [Mapview hg19]  RFLNA [Mapview hg38]
OMIM615927   
Gene and transcription
Genbank (Entrez)AK074545 AK126577 BC026875 BC042102 BC067283
RefSeq transcript (Entrez)NM_181709
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RFLNA
Cluster EST : UnigeneHs.432901 [ NCBI ]
CGAP (NCI)Hs.432901
Alternative Splicing GalleryENSG00000178882
Gene ExpressionRFLNA [ NCBI-GEO ]   RFLNA [ EBI - ARRAY_EXPRESS ]   RFLNA [ SEEK ]   RFLNA [ MEM ]
Gene Expression Viewer (FireBrowse)RFLNA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144347
GTEX Portal (Tissue expression)RFLNA
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZTI6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZTI6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZTI6
Splice isoforms : SwissVarQ6ZTI6
PhosPhoSitePlusQ6ZTI6
Domains : Interpro (EBI)FAM101   
Domain families : Pfam (Sanger)FAM101 (PF15068)   
Domain families : Pfam (NCBI)pfam15068   
Conserved Domain (NCBI)RFLNA
DMDM Disease mutations144347
Blocks (Seattle)RFLNA
SuperfamilyQ6ZTI6
Human Protein AtlasENSG00000178882
Peptide AtlasQ6ZTI6
HPRD14066
Protein Interaction databases
DIP (DOE-UCLA)Q6ZTI6
IntAct (EBI)Q6ZTI6
FunCoupENSG00000178882
BioGRIDRFLNA
STRING (EMBL)RFLNA
ZODIACRFLNA
Ontologies - Pathways
QuickGOQ6ZTI6
Ontology : AmiGOprotein binding  cytoplasm  filamin binding  actin filament bundle  skeletal system morphogenesis  negative regulation of chondrocyte development  actin filament bundle organization  negative regulation of bone mineralization involved in bone maturation  
Ontology : EGO-EBIprotein binding  cytoplasm  filamin binding  actin filament bundle  skeletal system morphogenesis  negative regulation of chondrocyte development  actin filament bundle organization  negative regulation of bone mineralization involved in bone maturation  
NDEx NetworkRFLNA
Atlas of Cancer Signalling NetworkRFLNA
Wikipedia pathwaysRFLNA
Orthology - Evolution
OrthoDB144347
GeneTree (enSembl)ENSG00000178882
Phylogenetic Trees/Animal Genes : TreeFamRFLNA
HOVERGENQ6ZTI6
HOGENOMQ6ZTI6
Homologs : HomoloGeneRFLNA
Homology/Alignments : Family Browser (UCSC)RFLNA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRFLNA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFLNA
dbVarRFLNA
ClinVarRFLNA
1000_GenomesRFLNA 
Exome Variant ServerRFLNA
ExAC (Exome Aggregation Consortium)RFLNA (select the gene name)
Genetic variants : HAPMAP144347
Genomic Variants (DGV)RFLNA [DGVbeta]
DECIPHER (Syndromes)12:124773710-124800570  ENSG00000178882
CONAN: Copy Number AnalysisRFLNA 
Mutations
ICGC Data PortalRFLNA 
TCGA Data PortalRFLNA 
Broad Tumor PortalRFLNA
OASIS PortalRFLNA [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDRFLNA
BioMutasearch RFLNA
DgiDB (Drug Gene Interaction Database)RFLNA
DoCM (Curated mutations)RFLNA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RFLNA (select a term)
intoGenRFLNA
Cancer3DRFLNA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615927   
Orphanet
MedgenRFLNA
Genetic Testing Registry RFLNA
NextProtQ6ZTI6 [Medical]
TSGene144347
GENETestsRFLNA
Huge Navigator RFLNA [HugePedia]
snp3D : Map Gene to Disease144347
BioCentury BCIQRFLNA
ClinGenRFLNA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD144347
Chemical/Pharm GKB GenePA143485462
Clinical trialRFLNA
Miscellaneous
canSAR (ICR)RFLNA (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRFLNA
EVEXRFLNA
GoPubMedRFLNA
iHOPRFLNA
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 13:24:51 CET 2017

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