Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TNFRSF8 (TNF receptor superfamily member 8)

Identity

Alias_namesCD30
D1S166E
tumor necrosis factor receptor superfamily
Alias_symbol (synonym)KI-1
Other aliasKi-1
HGNC (Hugo) TNFRSF8
LocusID (NCBI) 943
Atlas_Id 42630
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 12063377 and ends at 12144207 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)
PIK3CD (1p36.22) / TNFRSF8 (1p36.22)PLEKHG5 (1p36.31) / TNFRSF8 (1p36.22)STARD13 (13q13.1) / TNFRSF8 (1p36.22)
PLEKHG5 1p36.31 / TNFRSF8 1p36.22STARD13 13q13.1 / TNFRSF8 1p36.22

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) [ 1 ]
  t(6;14)(p25.3;q11.2) TRA/IRF4

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;1)(p36;p36) PLEKHG5/TNFRSF8
t(1;13)(p36;q13) STARD13/TNFRSF8

External links

Nomenclature
HGNC (Hugo)TNFRSF8   11923
Cards
Entrez_Gene (NCBI)TNFRSF8  943  TNF receptor superfamily member 8
AliasesCD30; D1S166E; Ki-1
GeneCards (Weizmann)TNFRSF8
Ensembl hg19 (Hinxton)ENSG00000120949 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120949 [Gene_View]  chr1:12063377-12144207 [Contig_View]  TNFRSF8 [Vega]
ICGC DataPortalENSG00000120949
TCGA cBioPortalTNFRSF8
AceView (NCBI)TNFRSF8
Genatlas (Paris)TNFRSF8
WikiGenes943
SOURCE (Princeton)TNFRSF8
Genetics Home Reference (NIH)TNFRSF8
Genomic and cartography
GoldenPath hg38 (UCSC)TNFRSF8  -     chr1:12063377-12144207 +  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TNFRSF8  -     1p36.22   [Description]    (hg19-Feb_2009)
EnsemblTNFRSF8 - 1p36.22 [CytoView hg19]  TNFRSF8 - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBITNFRSF8 [Mapview hg19]  TNFRSF8 [Mapview hg38]
OMIM153243   
Gene and transcription
Genbank (Entrez)BC063482 BC073839 BC136400 BC141804 BC171762
RefSeq transcript (Entrez)NM_001243 NM_001281430 NM_152942
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TNFRSF8
Cluster EST : UnigeneHs.1314 [ NCBI ]
CGAP (NCI)Hs.1314
Alternative Splicing GalleryENSG00000120949
Gene ExpressionTNFRSF8 [ NCBI-GEO ]   TNFRSF8 [ EBI - ARRAY_EXPRESS ]   TNFRSF8 [ SEEK ]   TNFRSF8 [ MEM ]
Gene Expression Viewer (FireBrowse)TNFRSF8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)943
GTEX Portal (Tissue expression)TNFRSF8
Human Protein AtlasENSG00000120949-TNFRSF8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28908   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28908  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28908
Splice isoforms : SwissVarP28908
PhosPhoSitePlusP28908
Domaine pattern : Prosite (Expaxy)TNFR_NGFR_1 (PS00652)    TNFR_NGFR_2 (PS50050)   
Domains : Interpro (EBI)TNFR/NGFR_Cys_rich_reg    TNFR_8    TNFRSF8_N   
Domain families : Pfam (Sanger)TNFR_c6 (PF00020)   
Domain families : Pfam (NCBI)pfam00020   
Domain families : Smart (EMBL)TNFR (SM00208)  
Conserved Domain (NCBI)TNFRSF8
DMDM Disease mutations943
Blocks (Seattle)TNFRSF8
PDB (SRS)1D01   
PDB (PDBSum)1D01   
PDB (IMB)1D01   
PDB (RSDB)1D01   
Structural Biology KnowledgeBase1D01   
SCOP (Structural Classification of Proteins)1D01   
CATH (Classification of proteins structures)1D01   
SuperfamilyP28908
Human Protein Atlas [tissue]ENSG00000120949-TNFRSF8 [tissue]
Peptide AtlasP28908
HPRD01074
IPIIPI00006073   IPI00759738   IPI00873177   IPI00430795   IPI00966159   
Protein Interaction databases
DIP (DOE-UCLA)P28908
IntAct (EBI)P28908
FunCoupENSG00000120949
BioGRIDTNFRSF8
STRING (EMBL)TNFRSF8
ZODIACTNFRSF8
Ontologies - Pathways
QuickGOP28908
Ontology : AmiGOtransmembrane signaling receptor activity  tumor necrosis factor-activated receptor activity  nucleus  cytoplasm  plasma membrane  integral component of plasma membrane  inflammatory response  immune response  signal transduction  axon guidance  negative regulation of cell proliferation  negative regulation of neuron projection development  response to lipopolysaccharide  tumor necrosis factor-mediated signaling pathway  positive regulation of tumor necrosis factor biosynthetic process  neuron projection  positive regulation of apoptotic process  positive regulation of TRAIL biosynthetic process  nerve growth factor binding  extracellular exosome  cellular response to mechanical stimulus  apoptotic signaling pathway  
Ontology : EGO-EBItransmembrane signaling receptor activity  tumor necrosis factor-activated receptor activity  nucleus  cytoplasm  plasma membrane  integral component of plasma membrane  inflammatory response  immune response  signal transduction  axon guidance  negative regulation of cell proliferation  negative regulation of neuron projection development  response to lipopolysaccharide  tumor necrosis factor-mediated signaling pathway  positive regulation of tumor necrosis factor biosynthetic process  neuron projection  positive regulation of apoptotic process  positive regulation of TRAIL biosynthetic process  nerve growth factor binding  extracellular exosome  cellular response to mechanical stimulus  apoptotic signaling pathway  
Pathways : KEGGCytokine-cytokine receptor interaction   
NDEx NetworkTNFRSF8
Atlas of Cancer Signalling NetworkTNFRSF8
Wikipedia pathwaysTNFRSF8
Orthology - Evolution
OrthoDB943
GeneTree (enSembl)ENSG00000120949
Phylogenetic Trees/Animal Genes : TreeFamTNFRSF8
HOVERGENP28908
HOGENOMP28908
Homologs : HomoloGeneTNFRSF8
Homology/Alignments : Family Browser (UCSC)TNFRSF8
Gene fusions - Rearrangements
Fusion : MitelmanPLEKHG5/TNFRSF8 [1p36.31/1p36.22]  [t(1;1)(p36;p36)]  
Fusion : MitelmanSTARD13/TNFRSF8 [13q13.1/1p36.22]  [t(1;13)(p36;q13)]  
Fusion: TCGA_MDACCPLEKHG5 1p36.31 TNFRSF8 1p36.22 LUAD
Fusion: TCGA_MDACCSTARD13 13q13.1 TNFRSF8 1p36.22 BRCA
Fusion PortalPLEKHG5 1p36.31 TNFRSF8 1p36.22 LUAD
Fusion PortalSTARD13 13q13.1 TNFRSF8 1p36.22 BRCA
Fusion : QuiverTNFRSF8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTNFRSF8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TNFRSF8
dbVarTNFRSF8
ClinVarTNFRSF8
1000_GenomesTNFRSF8 
Exome Variant ServerTNFRSF8
ExAC (Exome Aggregation Consortium)ENSG00000120949
GNOMAD BrowserENSG00000120949
Genetic variants : HAPMAP943
Genomic Variants (DGV)TNFRSF8 [DGVbeta]
DECIPHERTNFRSF8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTNFRSF8 
Mutations
ICGC Data PortalTNFRSF8 
TCGA Data PortalTNFRSF8 
Broad Tumor PortalTNFRSF8
OASIS PortalTNFRSF8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTNFRSF8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTNFRSF8
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 TNFRSF8
DgiDB (Drug Gene Interaction Database)TNFRSF8
DoCM (Curated mutations)TNFRSF8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TNFRSF8 (select a term)
intoGenTNFRSF8
Cancer3DTNFRSF8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM153243   
Orphanet
DisGeNETTNFRSF8
MedgenTNFRSF8
Genetic Testing Registry TNFRSF8
NextProtP28908 [Medical]
TSGene943
GENETestsTNFRSF8
Target ValidationTNFRSF8
Huge Navigator TNFRSF8 [HugePedia]
snp3D : Map Gene to Disease943
BioCentury BCIQTNFRSF8
ClinGenTNFRSF8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD943
Chemical/Pharm GKB GenePA36616
Clinical trialTNFRSF8
Miscellaneous
canSAR (ICR)TNFRSF8 (select the gene name)
Probes
Litterature
PubMed203 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTNFRSF8
EVEXTNFRSF8
GoPubMedTNFRSF8
iHOPTNFRSF8
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 : Mon Jun 18 19:50:05 CEST 2018
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