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FRG1 (FSHD region gene 1)

Identity

Alias_symbol (synonym)FSG1
FRG1A
Other alias
HGNC (Hugo) FRG1
LocusID (NCBI) 2483
Atlas_Id 52251
Location 4q35.2  [Link to chromosome band 4q35]
Location_base_pair Starts at 189940819 and ends at 189963204 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)FRG1   3954
Cards
Entrez_Gene (NCBI)FRG1  2483  FSHD region gene 1
AliasesFRG1A; FSG1
GeneCards (Weizmann)FRG1
Ensembl hg19 (Hinxton)ENSG00000109536 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109536 [Gene_View]  chr4:189940819-189963204 [Contig_View]  FRG1 [Vega]
ICGC DataPortalENSG00000109536
TCGA cBioPortalFRG1
AceView (NCBI)FRG1
Genatlas (Paris)FRG1
WikiGenes2483
SOURCE (Princeton)FRG1
Genetics Home Reference (NIH)FRG1
Genomic and cartography
GoldenPath hg38 (UCSC)FRG1  -     chr4:189940819-189963204 +  4q35.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRG1  -     4q35.2   [Description]    (hg19-Feb_2009)
EnsemblFRG1 - 4q35.2 [CytoView hg19]  FRG1 - 4q35.2 [CytoView hg38]
Mapping of homologs : NCBIFRG1 [Mapview hg19]  FRG1 [Mapview hg38]
OMIM158900   601278   
Gene and transcription
Genbank (Entrez)AA749391 AK291890 BC053997 BG426031 HQ448060
RefSeq transcript (Entrez)NM_004477
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_008142 NT_187650 NW_015495300 NW_015495301
Consensus coding sequences : CCDS (NCBI)FRG1
Cluster EST : UnigeneHs.203772 [ NCBI ]
CGAP (NCI)Hs.203772
Alternative Splicing GalleryENSG00000109536
Gene ExpressionFRG1 [ NCBI-GEO ]   FRG1 [ EBI - ARRAY_EXPRESS ]   FRG1 [ SEEK ]   FRG1 [ MEM ]
Gene Expression Viewer (FireBrowse)FRG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2483
GTEX Portal (Tissue expression)FRG1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14331   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14331  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14331
Splice isoforms : SwissVarQ14331
PhosPhoSitePlusQ14331
Domains : Interpro (EBI)Actin_cross-linking    FRG1   
Domain families : Pfam (Sanger)FRG1 (PF06229)   
Domain families : Pfam (NCBI)pfam06229   
Conserved Domain (NCBI)FRG1
DMDM Disease mutations2483
Blocks (Seattle)FRG1
SuperfamilyQ14331
Human Protein AtlasENSG00000109536
Peptide AtlasQ14331
HPRD03176
IPIIPI00004655   IPI00980974   IPI00979986   IPI00981963   
Protein Interaction databases
DIP (DOE-UCLA)Q14331
IntAct (EBI)Q14331
FunCoupENSG00000109536
BioGRIDFRG1
STRING (EMBL)FRG1
ZODIACFRG1
Ontologies - Pathways
QuickGOQ14331
Ontology : AmiGOmRNA splicing, via spliceosome  RNA binding  protein binding  nucleolus  rRNA processing  muscle organ development  Cajal body  Z disc  actin filament binding  striated muscle dense body  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  RNA binding  protein binding  nucleolus  rRNA processing  muscle organ development  Cajal body  Z disc  actin filament binding  striated muscle dense body  catalytic step 2 spliceosome  
NDEx NetworkFRG1
Atlas of Cancer Signalling NetworkFRG1
Wikipedia pathwaysFRG1
Orthology - Evolution
OrthoDB2483
GeneTree (enSembl)ENSG00000109536
Phylogenetic Trees/Animal Genes : TreeFamFRG1
HOVERGENQ14331
HOGENOMQ14331
Homologs : HomoloGeneFRG1
Homology/Alignments : Family Browser (UCSC)FRG1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRG1
dbVarFRG1
ClinVarFRG1
1000_GenomesFRG1 
Exome Variant ServerFRG1
ExAC (Exome Aggregation Consortium)FRG1 (select the gene name)
Genetic variants : HAPMAP2483
Genomic Variants (DGV)FRG1 [DGVbeta]
DECIPHERFRG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFRG1 
Mutations
ICGC Data PortalFRG1 
TCGA Data PortalFRG1 
Broad Tumor PortalFRG1
OASIS PortalFRG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFRG1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFRG1
intOGen PortalFRG1
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 FRG1
DgiDB (Drug Gene Interaction Database)FRG1
DoCM (Curated mutations)FRG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FRG1 (select a term)
intoGenFRG1
Cancer3DFRG1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM158900    601278   
Orphanet62   
MedgenFRG1
Genetic Testing Registry FRG1
NextProtQ14331 [Medical]
TSGene2483
GENETestsFRG1
Target ValidationFRG1
Huge Navigator FRG1 [HugePedia]
snp3D : Map Gene to Disease2483
BioCentury BCIQFRG1
ClinGenFRG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2483
Chemical/Pharm GKB GenePA28372
Clinical trialFRG1
Miscellaneous
canSAR (ICR)FRG1 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFRG1
EVEXFRG1
GoPubMedFRG1
iHOPFRG1
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 12:34:24 CEST 2017

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