Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SETD1A (SET domain containing 1A)

Identity

Alias_symbol (synonym)KIAA0339
Set1
KMT2F
Other aliasSet1A
HGNC (Hugo) SETD1A
LocusID (NCBI) 9739
Atlas_Id 53878
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30957294 and ends at 30984662 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KSR2 (12q24.22) / SETD1A (16p11.2)SDK1 (7p22.2) / SETD1A (16p11.2)SETD1A (16p11.2) / ASPH (8q12.3)

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

 


External links

Nomenclature
HGNC (Hugo)SETD1A   29010
Cards
Entrez_Gene (NCBI)SETD1A  9739  SET domain containing 1A
AliasesKMT2F; Set1; Set1A
GeneCards (Weizmann)SETD1A
Ensembl hg19 (Hinxton)ENSG00000099381 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099381 [Gene_View]  chr16:30957294-30984662 [Contig_View]  SETD1A [Vega]
ICGC DataPortalENSG00000099381
TCGA cBioPortalSETD1A
AceView (NCBI)SETD1A
Genatlas (Paris)SETD1A
WikiGenes9739
SOURCE (Princeton)SETD1A
Genetics Home Reference (NIH)SETD1A
Genomic and cartography
GoldenPath hg38 (UCSC)SETD1A  -     chr16:30957294-30984662 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SETD1A  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblSETD1A - 16p11.2 [CytoView hg19]  SETD1A - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBISETD1A [Mapview hg19]  SETD1A [Mapview hg38]
OMIM611052   
Gene and transcription
Genbank (Entrez)AB002337 BC027450 BC035795
RefSeq transcript (Entrez)NM_014712
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SETD1A
Cluster EST : UnigeneHs.297483 [ NCBI ]
CGAP (NCI)Hs.297483
Alternative Splicing GalleryENSG00000099381
Gene ExpressionSETD1A [ NCBI-GEO ]   SETD1A [ EBI - ARRAY_EXPRESS ]   SETD1A [ SEEK ]   SETD1A [ MEM ]
Gene Expression Viewer (FireBrowse)SETD1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9739
GTEX Portal (Tissue expression)SETD1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15047   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15047  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15047
Splice isoforms : SwissVarO15047
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 ]   
PhosPhoSitePlusO15047
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)SETD1A
DMDM Disease mutations9739
Blocks (Seattle)SETD1A
PDB (SRS)3S8S    3UVN    4EWR   
PDB (PDBSum)3S8S    3UVN    4EWR   
PDB (IMB)3S8S    3UVN    4EWR   
PDB (RSDB)3S8S    3UVN    4EWR   
Structural Biology KnowledgeBase3S8S    3UVN    4EWR   
SCOP (Structural Classification of Proteins)3S8S    3UVN    4EWR   
CATH (Classification of proteins structures)3S8S    3UVN    4EWR   
SuperfamilyO15047
Human Protein AtlasENSG00000099381
Peptide AtlasO15047
HPRD13795
IPIIPI00179016   IPI00973037   IPI00878245   IPI00878069   
Protein Interaction databases
DIP (DOE-UCLA)O15047
IntAct (EBI)O15047
FunCoupENSG00000099381
BioGRIDSETD1A
STRING (EMBL)SETD1A
ZODIACSETD1A
Ontologies - Pathways
QuickGOO15047
Ontology : AmiGOnuclear chromatin  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  beta-catenin binding  transcription factor binding  nuclear speck  histone-lysine N-methyltransferase activity  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  Set1C/COMPASS complex  Set1C/COMPASS complex  histone H3-K4 methylation  regulation of hematopoietic stem cell differentiation  regulation of chromatin organization  
Ontology : EGO-EBInuclear chromatin  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  beta-catenin binding  transcription factor binding  nuclear speck  histone-lysine N-methyltransferase activity  histone methyltransferase complex  histone methyltransferase activity (H3-K4 specific)  Set1C/COMPASS complex  Set1C/COMPASS complex  histone H3-K4 methylation  regulation of hematopoietic stem cell differentiation  regulation of chromatin organization  
Pathways : KEGGLysine degradation   
NDEx NetworkSETD1A
Atlas of Cancer Signalling NetworkSETD1A
Wikipedia pathwaysSETD1A
Orthology - Evolution
OrthoDB9739
GeneTree (enSembl)ENSG00000099381
Phylogenetic Trees/Animal Genes : TreeFamSETD1A
HOVERGENO15047
HOGENOMO15047
Homologs : HomoloGeneSETD1A
Homology/Alignments : Family Browser (UCSC)SETD1A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSETD1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SETD1A
dbVarSETD1A
ClinVarSETD1A
1000_GenomesSETD1A 
Exome Variant ServerSETD1A
ExAC (Exome Aggregation Consortium)SETD1A (select the gene name)
Genetic variants : HAPMAP9739
Genomic Variants (DGV)SETD1A [DGVbeta]
DECIPHERSETD1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSETD1A 
Mutations
ICGC Data PortalSETD1A 
TCGA Data PortalSETD1A 
Broad Tumor PortalSETD1A
OASIS PortalSETD1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSETD1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSETD1A
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 SETD1A
DgiDB (Drug Gene Interaction Database)SETD1A
DoCM (Curated mutations)SETD1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SETD1A (select a term)
intoGenSETD1A
Cancer3DSETD1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611052   
Orphanet
MedgenSETD1A
Genetic Testing Registry SETD1A
NextProtO15047 [Medical]
TSGene9739
GENETestsSETD1A
Target ValidationSETD1A
Huge Navigator SETD1A [HugePedia]
snp3D : Map Gene to Disease9739
BioCentury BCIQSETD1A
ClinGenSETD1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9739
Chemical/Pharm GKB GenePA128394556
Clinical trialSETD1A
Miscellaneous
canSAR (ICR)SETD1A (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSETD1A
EVEXSETD1A
GoPubMedSETD1A
iHOPSETD1A
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 : Mon Sep 25 19:30:39 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.