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ASH1L (ASH1 like histone lysine methyltransferase)

Identity

Alias_namesash1 (absent
Alias_symbol (synonym)huASH1
ASH1
ASH1L1
KMT2H
Other aliasMRD52
HGNC (Hugo) ASH1L
LocusID (NCBI) 55870
Atlas_Id 47583
Location 1q22  [Link to chromosome band 1q22]
Location_base_pair Starts at 155335261 and ends at 155562533 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)
ASH1L (1q22) / AIM2 (1q23.1)ASH1L (1q22) / ARHGEF2 (1q22)ASH1L (1q22) / C1orf87 (1p32.1)
ASH1L (1q22) / CAPRIN1 (11p13)ASH1L (1q22) / CUL9 (6p21.1)ASH1L (1q22) / FAM78B (1q24.1)
ASH1L (1q22) / GATAD2B (1q21.3)ASH1L (1q22) / GPATCH4 (1q23.1)ASH1L (1q22) / INSRR (1q23.1)
ASH1L (1q22) / QSER1 (11p13)ASH1L (1q22) / RIT1 (1q22)ASH1L (1q22) / RPL32 (3p25.2)
ASH1L (1q22) / ZNRF3 (22q12.1)CLK2 (1q22) / ASH1L (1q22)GATAD2B (1q21.3) / ASH1L (1q22)
KCNN3 (1q21.3) / ASH1L (1q22)MAP4K4 (2q11.2) / ASH1L (1q22)PKN1 (19p13.12) / ASH1L (1q22)
SHC1 (1q21.3) / ASH1L (1q22)ASH1L 1q22 / AIM2 1q23.1ASH1L 1q22 / ARHGEF2 1q22
ASH1L 1q22 / C1orf87 1p32.1ASH1L 1q22 / FAM78B 1q24.1ASH1L 1q22 / GATAD2B 1q21.3
ASH1L 1q22 / GPATCH4 1q23.1ASH1L 1q22 / INSRR 1q23.1CLK2 1q22 / ASH1L 1q22
GATAD2B 1q21.3 / ASH1L 1q22SHC1 1q21.3 / ASH1L 1q22

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) [ 7 ]
  t(1;1)(p32;q22) ASH1L/C1orf87
t(1;1)(q21;q22) ASH1L/GATAD2B
t(1;1)(q21;q22) GATAD2B/ASH1L
t(1;1)(q21;q22) SHC1/ASH1L
t(1;1)(q22;q23) ASH1L/AIM2
t(1;1)(q22;q23) ASH1L/INSRR
t(1;1)(q22;q24) ASH1L/FAM78B

External links

Nomenclature
HGNC (Hugo)ASH1L   19088
Cards
Entrez_Gene (NCBI)ASH1L  55870  ASH1 like histone lysine methyltransferase
AliasesASH1; ASH1L1; KMT2H; MRD52
GeneCards (Weizmann)ASH1L
Ensembl hg19 (Hinxton)ENSG00000116539 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116539 [Gene_View]  ENSG00000116539 [Sequence]  chr1:155335261-155562533 [Contig_View]  ASH1L [Vega]
ICGC DataPortalENSG00000116539
TCGA cBioPortalASH1L
AceView (NCBI)ASH1L
Genatlas (Paris)ASH1L
WikiGenes55870
SOURCE (Princeton)ASH1L
Genetics Home Reference (NIH)ASH1L
Genomic and cartography
GoldenPath hg38 (UCSC)ASH1L  -     chr1:155335261-155562533 -  1q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASH1L  -     1q22   [Description]    (hg19-Feb_2009)
GoldenPathASH1L - 1q22 [CytoView hg19]  ASH1L - 1q22 [CytoView hg38]
ImmunoBaseENSG00000116539
Mapping of homologs : NCBIASH1L [Mapview hg19]  ASH1L [Mapview hg38]
OMIM607999   617796   
Gene and transcription
Genbank (Entrez)AB037841 AB209068 AF257305 AI912552 AK304873
RefSeq transcript (Entrez)NM_001366177 NM_018489
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASH1L
Cluster EST : UnigeneHs.491060 [ NCBI ]
CGAP (NCI)Hs.491060
Alternative Splicing GalleryENSG00000116539
Gene ExpressionASH1L [ NCBI-GEO ]   ASH1L [ EBI - ARRAY_EXPRESS ]   ASH1L [ SEEK ]   ASH1L [ MEM ]
Gene Expression Viewer (FireBrowse)ASH1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55870
GTEX Portal (Tissue expression)ASH1L
Human Protein AtlasENSG00000116539-ASH1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NR48   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NR48  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NR48
Splice isoforms : SwissVarQ9NR48
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 ]   
PhosPhoSitePlusQ9NR48
Domaine pattern : Prosite (Expaxy)AWS (PS51215)    BAH (PS51038)    BROMODOMAIN_2 (PS50014)    POST_SET (PS50868)    SET (PS50280)    ZF_PHD_1 (PS01359)   
Domains : Interpro (EBI)AT_hook_DNA-bd_motif    AWS_dom    BAH_dom    Bromodomain    Bromodomain-like_sf    Post-SET_dom    SET_dom    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)BAH (PF01426)    Bromodomain (PF00439)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam01426    pfam00439    pfam00856   
Domain families : Smart (EMBL)AT_hook (SM00384)  AWS (SM00570)  BAH (SM00439)  BROMO (SM00297)  PHD (SM00249)  SET (SM00317)  
Conserved Domain (NCBI)ASH1L
DMDM Disease mutations55870
Blocks (Seattle)ASH1L
PDB (RSDB)3MQM    3OPE    4YNM    4YNP    4YPA    4YPE    4YPU   
PDB Europe3MQM    3OPE    4YNM    4YNP    4YPA    4YPE    4YPU   
PDB (PDBSum)3MQM    3OPE    4YNM    4YNP    4YPA    4YPE    4YPU   
PDB (IMB)3MQM    3OPE    4YNM    4YNP    4YPA    4YPE    4YPU   
Structural Biology KnowledgeBase3MQM    3OPE    4YNM    4YNP    4YPA    4YPE    4YPU   
SCOP (Structural Classification of Proteins)3MQM    3OPE    4YNM    4YNP    4YPA    4YPE    4YPU   
CATH (Classification of proteins structures)3MQM    3OPE    4YNM    4YNP    4YPA    4YPE    4YPU   
SuperfamilyQ9NR48
Human Protein Atlas [tissue]ENSG00000116539-ASH1L [tissue]
Peptide AtlasQ9NR48
HPRD06416
IPIIPI00020546   IPI00642422   IPI01020850   IPI01020697   
Protein Interaction databases
DIP (DOE-UCLA)Q9NR48
IntAct (EBI)Q9NR48
FunCoupENSG00000116539
BioGRIDASH1L
STRING (EMBL)ASH1L
ZODIACASH1L
Ontologies - Pathways
QuickGOQ9NR48
Ontology : AmiGODNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  skeletal system development  negative regulation of acute inflammatory response  DNA binding  chromatin binding  nucleus  nucleoplasm  nucleoplasm  chromosome  Golgi apparatus  bicellular tight junction  DNA packaging  transcription by RNA polymerase II  cell-cell signaling  single fertilization  post-embryonic development  histone-lysine N-methyltransferase activity  flagellated sperm motility  interleukin-6 production  histone methyltransferase activity (H3-K4 specific)  negative regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of MAPK cascade  positive regulation of transcription by RNA polymerase II  decidualization  metal ion binding  histone methyltransferase activity (H3-K36 specific)  histone H3-K4 methylation  uterus morphogenesis  histone H3-K36 dimethylation  tarsal gland development  uterine gland development  
Ontology : EGO-EBIDNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  skeletal system development  negative regulation of acute inflammatory response  DNA binding  chromatin binding  nucleus  nucleoplasm  nucleoplasm  chromosome  Golgi apparatus  bicellular tight junction  DNA packaging  transcription by RNA polymerase II  cell-cell signaling  single fertilization  post-embryonic development  histone-lysine N-methyltransferase activity  flagellated sperm motility  interleukin-6 production  histone methyltransferase activity (H3-K4 specific)  negative regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of MAPK cascade  positive regulation of transcription by RNA polymerase II  decidualization  metal ion binding  histone methyltransferase activity (H3-K36 specific)  histone H3-K4 methylation  uterus morphogenesis  histone H3-K36 dimethylation  tarsal gland development  uterine gland development  
Pathways : KEGGLysine degradation    Tight junction   
NDEx NetworkASH1L
Atlas of Cancer Signalling NetworkASH1L
Wikipedia pathwaysASH1L
Orthology - Evolution
OrthoDB55870
GeneTree (enSembl)ENSG00000116539
Phylogenetic Trees/Animal Genes : TreeFamASH1L
HOGENOMQ9NR48
Homologs : HomoloGeneASH1L
Homology/Alignments : Family Browser (UCSC)ASH1L
Gene fusions - Rearrangements
Fusion : MitelmanASH1L/AIM2 [1q22/1q23.1]  
Fusion : MitelmanASH1L/C1orf87 [1q22/1p32.1]  [t(1;1)(p32;q22)]  
Fusion : MitelmanASH1L/FAM78B [1q22/1q24.1]  [t(1;1)(q22;q24)]  
Fusion : MitelmanASH1L/GATAD2B [1q22/1q21.3]  [t(1;1)(q21;q22)]  
Fusion : MitelmanASH1L/GPATCH4 [1q22/1q23.1]  [t(1;1)(q22;q23)]  
Fusion : MitelmanASH1L/INSRR [1q22/1q23.1]  [t(1;1)(q22;q23)]  
Fusion : MitelmanGATAD2B/ASH1L [1q21.3/1q22]  [t(1;1)(q21;q22)]  
Fusion : MitelmanSHC1/ASH1L [1q21.3/1q22]  [t(1;1)(q21;q22)]  
Fusion PortalASH1L 1q22 AIM2 1q23.1 BRCA
Fusion PortalASH1L 1q22 ARHGEF2 1q22 BRCA
Fusion PortalASH1L 1q22 C1orf87 1p32.1 OV
Fusion PortalASH1L 1q22 FAM78B 1q24.1 BRCA
Fusion PortalASH1L 1q22 GATAD2B 1q21.3 BRCA
Fusion PortalASH1L 1q22 GPATCH4 1q23.1 BRCA
Fusion PortalASH1L 1q22 INSRR 1q23.1 LUAD
Fusion PortalCLK2 1q22 ASH1L 1q22 LUAD
Fusion PortalGATAD2B 1q21.3 ASH1L 1q22 LUAD
Fusion PortalSHC1 1q21.3 ASH1L 1q22 LUAD
Fusion : QuiverASH1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASH1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASH1L
dbVarASH1L
ClinVarASH1L
1000_GenomesASH1L 
Exome Variant ServerASH1L
ExAC (Exome Aggregation Consortium)ENSG00000116539
GNOMAD BrowserENSG00000116539
Varsome BrowserASH1L
Genetic variants : HAPMAP55870
Genomic Variants (DGV)ASH1L [DGVbeta]
DECIPHERASH1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASH1L 
Mutations
ICGC Data PortalASH1L 
TCGA Data PortalASH1L 
Broad Tumor PortalASH1L
OASIS PortalASH1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASH1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASH1L
intOGen PortalASH1L
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 ASH1L
DgiDB (Drug Gene Interaction Database)ASH1L
DoCM (Curated mutations)ASH1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASH1L (select a term)
intoGenASH1L
Cancer3DASH1L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607999    617796   
Orphanet
DisGeNETASH1L
MedgenASH1L
Genetic Testing Registry ASH1L
NextProtQ9NR48 [Medical]
TSGene55870
GENETestsASH1L
Target ValidationASH1L
Huge Navigator ASH1L [HugePedia]
snp3D : Map Gene to Disease55870
BioCentury BCIQASH1L
ClinGenASH1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55870
Chemical/Pharm GKB GenePA134891064
Clinical trialASH1L
Miscellaneous
canSAR (ICR)ASH1L (select the gene name)
DataMed IndexASH1L
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASH1L
EVEXASH1L
GoPubMedASH1L
iHOPASH1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 8 11:11:24 CEST 2019
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