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SETD1B (SET domain containing 1B)

Identity

Alias_symbol (synonym)KIAA1076
Set1B
KMT2G
Other alias
HGNC (Hugo) SETD1B
LocusID (NCBI) 23067
Atlas_Id 54906
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 121804732 and ends at 121832656 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SETD1B (12q24.31) / KDM2B (12q24.31)SETD1B 12q24.31 / KDM2B 12q24.31

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 ]
  del(12)(q24q24) SETD1B/GTF2H3


External links

Nomenclature
HGNC (Hugo)SETD1B   29187
Cards
Entrez_Gene (NCBI)SETD1B  23067  SET domain containing 1B
AliasesKMT2G; Set1B
GeneCards (Weizmann)SETD1B
Ensembl hg19 (Hinxton)ENSG00000139718 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139718 [Gene_View]  chr12:121804732-121832656 [Contig_View]  SETD1B [Vega]
ICGC DataPortalENSG00000139718
TCGA cBioPortalSETD1B
AceView (NCBI)SETD1B
Genatlas (Paris)SETD1B
WikiGenes23067
SOURCE (Princeton)SETD1B
Genetics Home Reference (NIH)SETD1B
Genomic and cartography
GoldenPath hg38 (UCSC)SETD1B  -     chr12:121804732-121832656 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SETD1B  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblSETD1B - 12q24.31 [CytoView hg19]  SETD1B - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBISETD1B [Mapview hg19]  SETD1B [Mapview hg38]
OMIM611055   
Gene and transcription
Genbank (Entrez)AB028999 AK000810 BC047909 BC080192 JF813787
RefSeq transcript (Entrez)NM_015048
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SETD1B
Cluster EST : UnigeneHs.507122 [ NCBI ]
CGAP (NCI)Hs.507122
Alternative Splicing GalleryENSG00000139718
Gene ExpressionSETD1B [ NCBI-GEO ]   SETD1B [ EBI - ARRAY_EXPRESS ]   SETD1B [ SEEK ]   SETD1B [ MEM ]
Gene Expression Viewer (FireBrowse)SETD1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23067
GTEX Portal (Tissue expression)SETD1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPS6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPS6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPS6
Splice isoforms : SwissVarQ9UPS6
Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
PhosPhoSitePlusQ9UPS6
Domaine pattern : Prosite (Expaxy)POST_SET (PS50868)    RRM (PS50102)    SET (PS50280)   
Domains : Interpro (EBI)COMPASS_Set1_N-SET    Nucleotide-bd_a/b_plait    Post-SET_dom    RRM_dom    SET_dom   
Domain families : Pfam (Sanger)N-SET (PF11764)    RRM_1 (PF00076)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam11764    pfam00076    pfam00856   
Domain families : Smart (EMBL)N-SET (SM01291)  PostSET (SM00508)  RRM (SM00360)  SET (SM00317)  
Conserved Domain (NCBI)SETD1B
DMDM Disease mutations23067
Blocks (Seattle)SETD1B
PDB (SRS)3UVO    4ES0   
PDB (PDBSum)3UVO    4ES0   
PDB (IMB)3UVO    4ES0   
PDB (RSDB)3UVO    4ES0   
Structural Biology KnowledgeBase3UVO    4ES0   
SCOP (Structural Classification of Proteins)3UVO    4ES0   
CATH (Classification of proteins structures)3UVO    4ES0   
SuperfamilyQ9UPS6
Human Protein AtlasENSG00000139718
Peptide AtlasQ9UPS6
IPIIPI00165459   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPS6
IntAct (EBI)Q9UPS6
FunCoupENSG00000139718
BioGRIDSETD1B
STRING (EMBL)SETD1B
ZODIACSETD1B
Ontologies - Pathways
QuickGOQ9UPS6
Ontology : AmiGORNA binding  protein binding  nucleoplasm  nucleoplasm  chromosome  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  nuclear speck  histone-lysine N-methyltransferase activity  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  Set1C/COMPASS complex  histone H3-K4 methylation  
Ontology : EGO-EBIRNA binding  protein binding  nucleoplasm  nucleoplasm  chromosome  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  nuclear speck  histone-lysine N-methyltransferase activity  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  Set1C/COMPASS complex  histone H3-K4 methylation  
Pathways : KEGGLysine degradation   
NDEx NetworkSETD1B
Atlas of Cancer Signalling NetworkSETD1B
Wikipedia pathwaysSETD1B
Orthology - Evolution
OrthoDB23067
GeneTree (enSembl)ENSG00000139718
Phylogenetic Trees/Animal Genes : TreeFamSETD1B
HOVERGENQ9UPS6
HOGENOMQ9UPS6
Homologs : HomoloGeneSETD1B
Homology/Alignments : Family Browser (UCSC)SETD1B
Gene fusions - Rearrangements
Fusion : MitelmanSETD1B/KDM2B [12q24.31/12q24.31]  
Fusion: TCGASETD1B 12q24.31 KDM2B 12q24.31 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSETD1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SETD1B
dbVarSETD1B
ClinVarSETD1B
1000_GenomesSETD1B 
Exome Variant ServerSETD1B
ExAC (Exome Aggregation Consortium)SETD1B (select the gene name)
Genetic variants : HAPMAP23067
Genomic Variants (DGV)SETD1B [DGVbeta]
DECIPHERSETD1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSETD1B 
Mutations
ICGC Data PortalSETD1B 
TCGA Data PortalSETD1B 
Broad Tumor PortalSETD1B
OASIS PortalSETD1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSETD1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSETD1B
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 SETD1B
DgiDB (Drug Gene Interaction Database)SETD1B
DoCM (Curated mutations)SETD1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SETD1B (select a term)
intoGenSETD1B
Cancer3DSETD1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611055   
Orphanet
MedgenSETD1B
Genetic Testing Registry SETD1B
NextProtQ9UPS6 [Medical]
TSGene23067
GENETestsSETD1B
Target ValidationSETD1B
Huge Navigator SETD1B [HugePedia]
snp3D : Map Gene to Disease23067
BioCentury BCIQSETD1B
ClinGenSETD1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23067
Chemical/Pharm GKB GenePA143485611
Clinical trialSETD1B
Miscellaneous
canSAR (ICR)SETD1B (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSETD1B
EVEXSETD1B
GoPubMedSETD1B
iHOPSETD1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:07:02 CEST 2017

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