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GFRA1 (GDNF family receptor alpha 1)

Identity

Alias_namesGDNFRA
Alias_symbol (synonym)RETL1
GDNFR
GFR-ALPHA-1
RET1L
TRNR1
Other alias
HGNC (Hugo) GFRA1
LocusID (NCBI) 2674
Atlas_Id 40708
Location 10q25.3  [Link to chromosome band 10q25]
Location_base_pair Starts at 116056931 and ends at 116273645 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GFRA1 (10q25.3) / DGKB (7p21.2)GFRA1 (10q25.3) / PLA2G2A (1p36.13)GFRA1 (10q25.3) / RNPS1 (16p13.3)
GFRA1 10q25.3 / DGKB 7p21.2

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Thyroid: Medullary carcinoma


External links

Nomenclature
HGNC (Hugo)GFRA1   4243
Cards
Entrez_Gene (NCBI)GFRA1  2674  GDNF family receptor alpha 1
AliasesGDNFR; GDNFRA; GFR-ALPHA-1; RET1L; 
RETL1; TRNR1
GeneCards (Weizmann)GFRA1
Ensembl hg19 (Hinxton)ENSG00000151892 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151892 [Gene_View]  chr10:116056931-116273645 [Contig_View]  GFRA1 [Vega]
ICGC DataPortalENSG00000151892
TCGA cBioPortalGFRA1
AceView (NCBI)GFRA1
Genatlas (Paris)GFRA1
WikiGenes2674
SOURCE (Princeton)GFRA1
Genetics Home Reference (NIH)GFRA1
Genomic and cartography
GoldenPath hg38 (UCSC)GFRA1  -     chr10:116056931-116273645 -  10q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GFRA1  -     10q25.3   [Description]    (hg19-Feb_2009)
EnsemblGFRA1 - 10q25.3 [CytoView hg19]  GFRA1 - 10q25.3 [CytoView hg38]
Mapping of homologs : NCBIGFRA1 [Mapview hg19]  GFRA1 [Mapview hg38]
OMIM601496   
Gene and transcription
Genbank (Entrez)AF038421 AF042080 AK001423 AK056108 AK292886
RefSeq transcript (Entrez)NM_001145453 NM_001348096 NM_001348097 NM_001348098 NM_001348099 NM_005264 NM_145793
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GFRA1
Cluster EST : UnigeneHs.388347 [ NCBI ]
CGAP (NCI)Hs.388347
Alternative Splicing GalleryENSG00000151892
Gene ExpressionGFRA1 [ NCBI-GEO ]   GFRA1 [ EBI - ARRAY_EXPRESS ]   GFRA1 [ SEEK ]   GFRA1 [ MEM ]
Gene Expression Viewer (FireBrowse)GFRA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2674
GTEX Portal (Tissue expression)GFRA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56159   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56159  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56159
Splice isoforms : SwissVarP56159
PhosPhoSitePlusP56159
Domains : Interpro (EBI)GDNF/GAS1    GDNF_rcpt    GDNF_rcpt_A1    Glial_neurotroph_fac_rcpt_a1/2   
Domain families : Pfam (Sanger)GDNF (PF02351)   
Domain families : Pfam (NCBI)pfam02351   
Domain families : Smart (EMBL)GDNF (SM00907)  
Conserved Domain (NCBI)GFRA1
DMDM Disease mutations2674
Blocks (Seattle)GFRA1
SuperfamilyP56159
Human Protein AtlasENSG00000151892
Peptide AtlasP56159
HPRD03291
IPIIPI00008148   IPI00220291   IPI00921992   
Protein Interaction databases
DIP (DOE-UCLA)P56159
IntAct (EBI)P56159
FunCoupENSG00000151892
BioGRIDGFRA1
STRING (EMBL)GFRA1
ZODIACGFRA1
Ontologies - Pathways
QuickGOP56159
Ontology : AmiGOMAPK cascade  Ras guanyl-nucleotide exchange factor activity  receptor binding  intracellular  plasma membrane  cell surface receptor signaling pathway  axon guidance  glial cell-derived neurotrophic factor receptor activity  extrinsic component of membrane  anchored component of membrane  glial cell-derived neurotrophic factor receptor signaling pathway  positive regulation of GTPase activity  extracellular exosome  
Ontology : EGO-EBIMAPK cascade  Ras guanyl-nucleotide exchange factor activity  receptor binding  intracellular  plasma membrane  cell surface receptor signaling pathway  axon guidance  glial cell-derived neurotrophic factor receptor activity  extrinsic component of membrane  anchored component of membrane  glial cell-derived neurotrophic factor receptor signaling pathway  positive regulation of GTPase activity  extracellular exosome  
NDEx NetworkGFRA1
Atlas of Cancer Signalling NetworkGFRA1
Wikipedia pathwaysGFRA1
Orthology - Evolution
OrthoDB2674
GeneTree (enSembl)ENSG00000151892
Phylogenetic Trees/Animal Genes : TreeFamGFRA1
HOVERGENP56159
HOGENOMP56159
Homologs : HomoloGeneGFRA1
Homology/Alignments : Family Browser (UCSC)GFRA1
Gene fusions - Rearrangements
Fusion : MitelmanGFRA1/DGKB [10q25.3/7p21.2]  
Fusion: TCGAGFRA1 10q25.3 DGKB 7p21.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGFRA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GFRA1
dbVarGFRA1
ClinVarGFRA1
1000_GenomesGFRA1 
Exome Variant ServerGFRA1
ExAC (Exome Aggregation Consortium)GFRA1 (select the gene name)
Genetic variants : HAPMAP2674
Genomic Variants (DGV)GFRA1 [DGVbeta]
DECIPHERGFRA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGFRA1 
Mutations
ICGC Data PortalGFRA1 
TCGA Data PortalGFRA1 
Broad Tumor PortalGFRA1
OASIS PortalGFRA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGFRA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGFRA1
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 GFRA1
DgiDB (Drug Gene Interaction Database)GFRA1
DoCM (Curated mutations)GFRA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GFRA1 (select a term)
intoGenGFRA1
Cancer3DGFRA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601496   
Orphanet
MedgenGFRA1
Genetic Testing Registry GFRA1
NextProtP56159 [Medical]
TSGene2674
GENETestsGFRA1
Target ValidationGFRA1
Huge Navigator GFRA1 [HugePedia]
snp3D : Map Gene to Disease2674
BioCentury BCIQGFRA1
ClinGenGFRA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2674
Chemical/Pharm GKB GenePA28653
Clinical trialGFRA1
Miscellaneous
canSAR (ICR)GFRA1 (select the gene name)
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGFRA1
EVEXGFRA1
GoPubMedGFRA1
iHOPGFRA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:35:08 CEST 2017

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