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IFNGR1 (interferon gamma receptor 1)

Identity

Alias_namesIFNGR
Alias_symbol (synonym)CD119
Other aliasIMD27A
IMD27B
HGNC (Hugo) IFNGR1
LocusID (NCBI) 3459
Atlas_Id 40926
Location 6q23.3  [Link to chromosome band 6q23]
Location_base_pair Starts at 137197484 and ends at 137219430 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)
CPS1 (2q34) / IFNGR1 (6q23.3)IFNGR1 (6q23.3) / IFNGR1 (6q23.3)IFNGR1 (6q23.3) / SLC38A2 (12q13.11)
IFNGR1 (6q23.3) / SMCHD1 (18p11.32)IFNGR1 6q23.3 / SMCHD1 18p11.32

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 ]
  t(6;18)(q23;p11) IFNGR1/SMCHD1


External links

Nomenclature
HGNC (Hugo)IFNGR1   5439
LRG (Locus Reference Genomic)LRG_66
Cards
Entrez_Gene (NCBI)IFNGR1  3459  interferon gamma receptor 1
AliasesCD119; IFNGR; IMD27A; IMD27B
GeneCards (Weizmann)IFNGR1
Ensembl hg19 (Hinxton)ENSG00000027697 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000027697 [Gene_View]  ENSG00000027697 [Sequence]  chr6:137197484-137219430 [Contig_View]  IFNGR1 [Vega]
ICGC DataPortalENSG00000027697
TCGA cBioPortalIFNGR1
AceView (NCBI)IFNGR1
Genatlas (Paris)IFNGR1
WikiGenes3459
SOURCE (Princeton)IFNGR1
Genetics Home Reference (NIH)IFNGR1
Genomic and cartography
GoldenPath hg38 (UCSC)IFNGR1  -     chr6:137197484-137219430 -  6q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IFNGR1  -     6q23.3   [Description]    (hg19-Feb_2009)
EnsemblIFNGR1 - 6q23.3 [CytoView hg19]  IFNGR1 - 6q23.3 [CytoView hg38]
Mapping of homologs : NCBIIFNGR1 [Mapview hg19]  IFNGR1 [Mapview hg38]
OMIM107470   209950   600263   607948   610424   615978   
Gene and transcription
Genbank (Entrez)AF056979 AK127636 AK222803 AK294252 AK297052
RefSeq transcript (Entrez)NM_000416 NM_001363526 NM_001363527
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IFNGR1
Cluster EST : UnigeneHs.520414 [ NCBI ]
CGAP (NCI)Hs.520414
Alternative Splicing GalleryENSG00000027697
Gene ExpressionIFNGR1 [ NCBI-GEO ]   IFNGR1 [ EBI - ARRAY_EXPRESS ]   IFNGR1 [ SEEK ]   IFNGR1 [ MEM ]
Gene Expression Viewer (FireBrowse)IFNGR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3459
GTEX Portal (Tissue expression)IFNGR1
Human Protein AtlasENSG00000027697-IFNGR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15260   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15260  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15260
Splice isoforms : SwissVarP15260
PhosPhoSitePlusP15260
Domains : Interpro (EBI)FN3_dom    FN3_sf    Ig-like_fold    Interferon_gamma_pox/mammal    Interferon_gamma_rcpt_asu   
Domain families : Pfam (Sanger)IFNGR1 (PF07140)    Tissue_fac (PF01108)   
Domain families : Pfam (NCBI)pfam07140    pfam01108   
Conserved Domain (NCBI)IFNGR1
DMDM Disease mutations3459
Blocks (Seattle)IFNGR1
PDB (SRS)1FG9    1FYH    1JRH   
PDB (PDBSum)1FG9    1FYH    1JRH   
PDB (IMB)1FG9    1FYH    1JRH   
PDB (RSDB)1FG9    1FYH    1JRH   
Structural Biology KnowledgeBase1FG9    1FYH    1JRH   
SCOP (Structural Classification of Proteins)1FG9    1FYH    1JRH   
CATH (Classification of proteins structures)1FG9    1FYH    1JRH   
SuperfamilyP15260
Human Protein Atlas [tissue]ENSG00000027697-IFNGR1 [tissue]
Peptide AtlasP15260
HPRD00127
IPIIPI00010808   IPI00514230   IPI01010137   IPI00514426   
Protein Interaction databases
DIP (DOE-UCLA)P15260
IntAct (EBI)P15260
FunCoupENSG00000027697
BioGRIDIFNGR1
STRING (EMBL)IFNGR1
ZODIACIFNGR1
Ontologies - Pathways
QuickGOP15260
Ontology : AmiGOinterferon-gamma receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  signal transduction  response to virus  cytokine-mediated signaling pathway  cytokine binding  interferon-gamma-mediated signaling pathway  regulation of interferon-gamma-mediated signaling pathway  
Ontology : EGO-EBIinterferon-gamma receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  signal transduction  response to virus  cytokine-mediated signaling pathway  cytokine binding  interferon-gamma-mediated signaling pathway  regulation of interferon-gamma-mediated signaling pathway  
Pathways : KEGGCytokine-cytokine receptor interaction    HIF-1 signaling pathway    Osteoclast differentiation    Jak-STAT signaling pathway    Natural killer cell mediated cytotoxicity    Salmonella infection    Leishmaniasis    Chagas disease (American trypanosomiasis)    Toxoplasmosis    Tuberculosis    Measles    Influenza A    Herpes simplex infection    Inflammatory bowel disease (IBD)   
NDEx NetworkIFNGR1
Atlas of Cancer Signalling NetworkIFNGR1
Wikipedia pathwaysIFNGR1
Orthology - Evolution
OrthoDB3459
GeneTree (enSembl)ENSG00000027697
Phylogenetic Trees/Animal Genes : TreeFamIFNGR1
HOVERGENP15260
HOGENOMP15260
Homologs : HomoloGeneIFNGR1
Homology/Alignments : Family Browser (UCSC)IFNGR1
Gene fusions - Rearrangements
Fusion : MitelmanIFNGR1/SMCHD1 [6q23.3/18p11.32]  
Fusion PortalIFNGR1 6q23.3 SMCHD1 18p11.32 PRAD
Fusion : QuiverIFNGR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIFNGR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IFNGR1
dbVarIFNGR1
ClinVarIFNGR1
1000_GenomesIFNGR1 
Exome Variant ServerIFNGR1
ExAC (Exome Aggregation Consortium)ENSG00000027697
GNOMAD BrowserENSG00000027697
Varsome BrowserIFNGR1
Genetic variants : HAPMAP3459
Genomic Variants (DGV)IFNGR1 [DGVbeta]
DECIPHERIFNGR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIFNGR1 
Mutations
ICGC Data PortalIFNGR1 
TCGA Data PortalIFNGR1 
Broad Tumor PortalIFNGR1
OASIS PortalIFNGR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIFNGR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIFNGR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)TBsLVD Tuberculosis susceptibility Locus Variation Database
BioMutasearch IFNGR1
DgiDB (Drug Gene Interaction Database)IFNGR1
DoCM (Curated mutations)IFNGR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IFNGR1 (select a term)
intoGenIFNGR1
Cancer3DIFNGR1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107470    209950    600263    607948    610424    615978   
Orphanet21677    21675    14471   
DisGeNETIFNGR1
MedgenIFNGR1
Genetic Testing Registry IFNGR1
NextProtP15260 [Medical]
TSGene3459
GENETestsIFNGR1
Target ValidationIFNGR1
Huge Navigator IFNGR1 [HugePedia]
snp3D : Map Gene to Disease3459
BioCentury BCIQIFNGR1
ClinGenIFNGR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3459
Chemical/Pharm GKB GenePA29675
Clinical trialIFNGR1
Miscellaneous
canSAR (ICR)IFNGR1 (select the gene name)
Probes
Litterature
PubMed181 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIFNGR1
EVEXIFNGR1
GoPubMedIFNGR1
iHOPIFNGR1
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 : Tue Nov 6 11:12:44 CET 2018

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