Hs01594897_cn

• Gene Symbol: ASH1L
• Assay Reference Genome Location: Chr.1:155346460 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: Overlaps Intron 24 - Exon 25

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_017001786.1			XP_016857275.1
	XM_017001788.1			XP_016857277.1
	AF257305.1			AAF68983.1
	AK304873.1
	DA236222.1

Target Gene Details

• Entrez Gene ID: 693140
• Gene Name: microRNA 555
• Gene Aliases: MIRN555, hsa-mir-555
• Location: Chr.1:155346350-155346445 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR555	NR_030282.1

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	SCAMP3 HCN3 POU5F1P4 FAM189B RUSC1 FDPS CLK2 PKLR MIR555 ASH1L RUSC1-AS1 LOC105371451
esv33869	Chr.1:155253492 - 155948170 on Build GRCh38	Loss	FAM189B GON4L RUSC1 CLK2 PKLR RUSC1-AS1 ASH1L-AS1 POU5F1P4 MSTO2P MIR555 YY1AP1 LOC105371451 RXFP4 SCAMP3 MSTO1 DAP3 ARHGEF2 SCARNA26A SCARNA26B HCN3 SYT11 LOC100505728 RIT1 FDPS SCARNA4 KIAA0907 ASH1L SNORA80E

More Information

• Set Membership: Intragenic, 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)