Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CSF3R (colony stimulating factor 3 receptor)

Identity

Alias (NCBI)CD114
GCSFR
SCN7
HGNC (Hugo) CSF3R
HGNC Alias symbGCSFR
HGNC Previous nameCD114
HGNC Previous namecolony stimulating factor 3 receptor (granulocyte)
LocusID (NCBI) 1441
Atlas_Id 40165
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 36466043 and ends at 36482913 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CSF3R (1p34.3) / DAB2 (5p13.1)NEAT1 (11q13.1) / CSF3R (1p34.3)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  Chronic Eosinophilic Leukemia-Not Otherwise Specified (CEL-NOS)::Idiopathic Hypereosinophilic Syndrome (IHES)
Chronic Myelomonocytic Leukemia (CMML)
Myelodysplastic/myeloproliferative neoplasms
t(1;9)(p34;q34) CSF3R/SPTAN1

External links

Nomenclature
HGNC (Hugo)CSF3R   2439
LRG (Locus Reference Genomic)LRG_144
Cards
Entrez_Gene (NCBI)CSF3R    colony stimulating factor 3 receptor
AliasesCD114; GCSFR; SCN7
GeneCards (Weizmann)CSF3R
Ensembl hg19 (Hinxton)ENSG00000119535 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119535 [Gene_View]  ENSG00000119535 [Sequence]  chr1:36466043-36482913 [Contig_View]  CSF3R [Vega]
ICGC DataPortalENSG00000119535
TCGA cBioPortalCSF3R
AceView (NCBI)CSF3R
Genatlas (Paris)CSF3R
SOURCE (Princeton)CSF3R
Genetics Home Reference (NIH)CSF3R
Genomic and cartography
GoldenPath hg38 (UCSC)CSF3R  -     chr1:36466043-36482913 -  1p34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CSF3R  -     1p34.3   [Description]    (hg19-Feb_2009)
GoldenPathCSF3R - 1p34.3 [CytoView hg19]  CSF3R - 1p34.3 [CytoView hg38]
ImmunoBaseENSG00000119535
genome Data Viewer NCBICSF3R [Mapview hg19]  
OMIM138971   617014   
Gene and transcription
Genbank (Entrez)AB209656 AK307242 BC040954 BC053585 BI912247
RefSeq transcript (Entrez)NM_000760 NM_156038 NM_156039 NM_172313
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CSF3R
Alternative Splicing GalleryENSG00000119535
Gene ExpressionCSF3R [ NCBI-GEO ]   CSF3R [ EBI - ARRAY_EXPRESS ]   CSF3R [ SEEK ]   CSF3R [ MEM ]
Gene Expression Viewer (FireBrowse)CSF3R [ Firebrowse - Broad ]
GenevisibleExpression of CSF3R in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1441
GTEX Portal (Tissue expression)CSF3R
Human Protein AtlasENSG00000119535-CSF3R [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99062   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99062  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99062
Splice isoforms : SwissVarQ99062
PhosPhoSitePlusQ99062
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_L_F2 (PS01353)   
Domains : Interpro (EBI)FN3_dom    FN3_sf    Hematopoietin_rcpt_Gp130_CS    Ig-like_dom_sf    Ig-like_fold    IgC2-like_lig-bd   
Domain families : Pfam (Sanger)fn3 (PF00041)    Lep_receptor_Ig (PF06328)   
Domain families : Pfam (NCBI)pfam00041    pfam06328   
Domain families : Smart (EMBL)FN3 (SM00060)  
Conserved Domain (NCBI)CSF3R
Blocks (Seattle)CSF3R
PDB (RSDB)1AZ7    2D9Q   
PDB Europe1AZ7    2D9Q   
PDB (PDBSum)1AZ7    2D9Q   
PDB (IMB)1AZ7    2D9Q   
Structural Biology KnowledgeBase1AZ7    2D9Q   
SCOP (Structural Classification of Proteins)1AZ7    2D9Q   
CATH (Classification of proteins structures)1AZ7    2D9Q   
SuperfamilyQ99062
Human Protein Atlas [tissue]ENSG00000119535-CSF3R [tissue]
Peptide AtlasQ99062
HPRD00737
IPIIPI00012936   IPI00216363   IPI00216365   IPI00216367   IPI00971045   IPI00556496   IPI00982464   
Protein Interaction databases
DIP (DOE-UCLA)Q99062
IntAct (EBI)Q99062
BioGRIDCSF3R
STRING (EMBL)CSF3R
ZODIACCSF3R
Ontologies - Pathways
QuickGOQ99062
Ontology : AmiGOcytokine receptor activity  protein binding  extracellular region  plasma membrane  integral component of plasma membrane  defense response  cell adhesion  signal transduction  external side of plasma membrane  cytokine-mediated signaling pathway  cytokine-mediated signaling pathway  cytokine binding  neutrophil chemotaxis  signaling receptor activity  receptor complex  regulation of myeloid cell differentiation  granulocyte colony-stimulating factor binding  amelogenesis  
Ontology : EGO-EBIcytokine receptor activity  protein binding  extracellular region  plasma membrane  integral component of plasma membrane  defense response  cell adhesion  signal transduction  external side of plasma membrane  cytokine-mediated signaling pathway  cytokine-mediated signaling pathway  cytokine binding  neutrophil chemotaxis  signaling receptor activity  receptor complex  regulation of myeloid cell differentiation  granulocyte colony-stimulating factor binding  amelogenesis  
Pathways : KEGGCytokine-cytokine receptor interaction    PI3K-Akt signaling pathway    Jak-STAT signaling pathway    Hematopoietic cell lineage    Pathways in cancer   
NDEx NetworkCSF3R
Atlas of Cancer Signalling NetworkCSF3R
Wikipedia pathwaysCSF3R
Orthology - Evolution
OrthoDB1441
GeneTree (enSembl)ENSG00000119535
Phylogenetic Trees/Animal Genes : TreeFamCSF3R
HOGENOMQ99062
Homologs : HomoloGeneCSF3R
Homology/Alignments : Family Browser (UCSC)CSF3R
Gene fusions - Rearrangements
Fusion : QuiverCSF3R
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSF3R [hg38]
dbVarCSF3R
ClinVarCSF3R
MonarchCSF3R
1000_GenomesCSF3R 
Exome Variant ServerCSF3R
GNOMAD BrowserENSG00000119535
Varsome BrowserCSF3R
Genomic Variants (DGV)CSF3R [DGVbeta]
DECIPHERCSF3R [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCSF3R 
Mutations
ICGC Data PortalCSF3R 
TCGA Data PortalCSF3R 
Broad Tumor PortalCSF3R
OASIS PortalCSF3R [ Somatic mutations - Copy number]
Cancer Gene: CensusCSF3R 
Somatic Mutations in Cancer : COSMICCSF3R  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCSF3R
Mutations and Diseases : HGMDCSF3R
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch CSF3R
DgiDB (Drug Gene Interaction Database)CSF3R
DoCM (Curated mutations)CSF3R (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSF3R (select a term)
intoGenCSF3R
Cancer3DCSF3R(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138971    617014   
Orphanet20420    23120    11744    13841   
DisGeNETCSF3R
MedgenCSF3R
Genetic Testing Registry CSF3R
NextProtQ99062 [Medical]
GENETestsCSF3R
Target ValidationCSF3R
Huge Navigator CSF3R [HugePedia]
ClinGenCSF3R
Clinical trials, drugs, therapy
MyCancerGenomeCSF3R
Protein Interactions : CTD
Pharm GKB GenePA26942
PharosQ99062
Clinical trialCSF3R
Miscellaneous
canSAR (ICR)CSF3R (select the gene name)
HarmonizomeCSF3R
DataMed IndexCSF3R
Probes
Litterature
PubMed133 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCSF3R
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:11:31 CET 2021
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