Hs03366550_cn

• Gene Symbol: ASH1L
• Assay Reference Genome Location: Chr.1:155342931 on build GRCh38
• Cytoband: 1q22

Target Gene Details

• Entrez Gene ID: 55870
• Gene Name: ASH1 like histone lysine methyltransferase
• Gene Aliases: ASH1, ASH1L1, KMT2H
• Location: Chr.1:155335261-155563160 on Build GRCh38
• Assay Gene Location: Within Intron 29

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASH1L	NM_018489.2			NP_060959.2
	XM_006711450.3			XP_006711513.1
	XM_006711451.3			XP_006711514.1
	XM_006711452.3			XP_006711515.1
	XM_011509770.2			XP_011508072.1
	XM_017001784.1			XP_016857273.1
	XM_017001785.1			XP_016857274.1
	XM_017001788.1			XP_016857277.1
	AF257305.1			AAF68983.1
	AK304873.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv831636	Chr.1:155249432 - 155475073 on Build GRCh38	Loss	MIR555 POU5F1P4 SCAMP3 LOC105371451 RUSC1 FDPS HCN3 FAM189B CLK2 ASH1L RUSC1-AS1 PKLR
esv33869	Chr.1:155253492 - 155948170 on Build GRCh38	Loss	MSTO1 MIR555 RXFP4 FDPS CLK2 SNORA80E ARHGEF2 LOC105371451 HCN3 FAM189B LOC100505728 SCARNA4 KIAA0907 SCAMP3 MSTO2P SYT11 RIT1 YY1AP1 ASH1L RUSC1-AS1 GON4L POU5F1P4 RUSC1 SCARNA26B DAP3 PKLR SCARNA26A ASH1L-AS1
dgv3n68	Chr.1:155122502 - 155343618 on Build GRCh38	Loss	EFNA1 SLC50A1 SCAMP3 MTX1 THBS3 MUC1 FDPS TRIM46 CLK2 ASH1L RUSC1-AS1 DPM3 GBAP1 MIR92B LOC105371451 RUSC1 HCN3 FAM189B PKLR GBA KRTCAP2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein, histone modifying enzyme

Gene Ontology Categories:

Process(es)

negative regulation of acute inflammatory response
DNA packaging
transcription from RNA polymerase II promoter
cell-cell signaling
interleukin-6 production
negative regulation of I-kappaB kinase/NF-kappaB signaling
negative regulation of MAPK cascade
positive regulation of transcription from RNA polymerase II promoter
histone H3-K4 methylation
histone H3-K36 dimethylation

Function(s)

DNA binding
chromatin binding
zinc ion binding
histone methyltransferase activity (H3-K4 specific)
histone methyltransferase activity (H3-K36 specific)