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FKRP (fukutin related protein)

Identity

Alias_symbol (synonym)LGMD2I
MDC1C
Other aliasMDDGA5
MDDGB5
MDDGC5
HGNC (Hugo) FKRP
LocusID (NCBI) 79147
Atlas_Id 63403
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 46746046 and ends at 46758575 bp from pter ( according to hg38-Dec_2013)

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)FKRP   17997
LRG (Locus Reference Genomic)LRG_761
Cards
Entrez_Gene (NCBI)FKRP  79147  fukutin related protein
AliasesLGMD2I; MDC1C; MDDGA5; MDDGB5; 
MDDGC5
GeneCards (Weizmann)FKRP
Ensembl hg19 (Hinxton)ENSG00000181027 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181027 [Gene_View]  chr19:46746046-46758575 [Contig_View]  FKRP [Vega]
ICGC DataPortalENSG00000181027
TCGA cBioPortalFKRP
AceView (NCBI)FKRP
Genatlas (Paris)FKRP
WikiGenes79147
SOURCE (Princeton)FKRP
Genetics Home Reference (NIH)FKRP
Genomic and cartography
GoldenPath hg38 (UCSC)FKRP  -     chr19:46746046-46758575 +  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FKRP  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblFKRP - 19q13.32 [CytoView hg19]  FKRP - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBIFKRP [Mapview hg19]  FKRP [Mapview hg38]
OMIM236670   606596   606612   607155   613153   
Gene and transcription
Genbank (Entrez)AJ314847 AK022638 AK095497 AK291282 AW504292
RefSeq transcript (Entrez)NM_001039885 NM_024301
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FKRP
Cluster EST : UnigeneHs.515493 [ NCBI ]
CGAP (NCI)Hs.515493
Alternative Splicing GalleryENSG00000181027
Gene ExpressionFKRP [ NCBI-GEO ]   FKRP [ EBI - ARRAY_EXPRESS ]   FKRP [ SEEK ]   FKRP [ MEM ]
Gene Expression Viewer (FireBrowse)FKRP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79147
GTEX Portal (Tissue expression)FKRP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H9S5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H9S5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H9S5
Splice isoforms : SwissVarQ9H9S5
PhosPhoSitePlusQ9H9S5
Domains : Interpro (EBI)LicD_fam   
Domain families : Pfam (Sanger)LicD (PF04991)   
Domain families : Pfam (NCBI)pfam04991   
Conserved Domain (NCBI)FKRP
DMDM Disease mutations79147
Blocks (Seattle)FKRP
SuperfamilyQ9H9S5
Human Protein AtlasENSG00000181027
Peptide AtlasQ9H9S5
HPRD05962
IPIIPI00013281   
Protein Interaction databases
DIP (DOE-UCLA)Q9H9S5
IntAct (EBI)Q9H9S5
FunCoupENSG00000181027
BioGRIDFKRP
STRING (EMBL)FKRP
ZODIACFKRP
Ontologies - Pathways
QuickGOQ9H9S5
Ontology : AmiGOGolgi membrane  extracellular space  nucleus  rough endoplasmic reticulum  Golgi apparatus  cytosol  dystrophin-associated glycoprotein complex  integral component of membrane  protein processing  transferase activity  protein O-linked mannosylation  sarcolemma  
Ontology : EGO-EBIGolgi membrane  extracellular space  nucleus  rough endoplasmic reticulum  Golgi apparatus  cytosol  dystrophin-associated glycoprotein complex  integral component of membrane  protein processing  transferase activity  protein O-linked mannosylation  sarcolemma  
NDEx NetworkFKRP
Atlas of Cancer Signalling NetworkFKRP
Wikipedia pathwaysFKRP
Orthology - Evolution
OrthoDB79147
GeneTree (enSembl)ENSG00000181027
Phylogenetic Trees/Animal Genes : TreeFamFKRP
HOVERGENQ9H9S5
HOGENOMQ9H9S5
Homologs : HomoloGeneFKRP
Homology/Alignments : Family Browser (UCSC)FKRP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFKRP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FKRP
dbVarFKRP
ClinVarFKRP
1000_GenomesFKRP 
Exome Variant ServerFKRP
ExAC (Exome Aggregation Consortium)FKRP (select the gene name)
Genetic variants : HAPMAP79147
Genomic Variants (DGV)FKRP [DGVbeta]
DECIPHERFKRP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFKRP 
Mutations
ICGC Data PortalFKRP 
TCGA Data PortalFKRP 
Broad Tumor PortalFKRP
OASIS PortalFKRP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFKRP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFKRP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FKRP
DgiDB (Drug Gene Interaction Database)FKRP
DoCM (Curated mutations)FKRP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FKRP (select a term)
intoGenFKRP
Cancer3DFKRP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236670    606596    606612    607155    613153   
Orphanet22509    22510    22511    8726    8725    10337   
MedgenFKRP
Genetic Testing Registry FKRP
NextProtQ9H9S5 [Medical]
TSGene79147
GENETestsFKRP
Target ValidationFKRP
Huge Navigator FKRP [HugePedia]
snp3D : Map Gene to Disease79147
BioCentury BCIQFKRP
ClinGenFKRP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79147
Chemical/Pharm GKB GenePA134976709
Clinical trialFKRP
Miscellaneous
canSAR (ICR)FKRP (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFKRP
EVEXFKRP
GoPubMedFKRP
iHOPFKRP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:49:17 CEST 2017

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