Hs00809913_cn

• Gene Symbol: ASH1L
• Assay Reference Genome Location: Chr.1:155335943 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 Exon 33

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASH1L	NM_018489.2	28	11092	NP_060959.2
	XM_006711450.3	28	10783	XP_006711513.1
	XM_006711451.3	29	10870	XP_006711514.1
	XM_006711452.3	27	10912	XP_006711515.1
	XM_011509770.2	27	6463	XP_011508072.1
	XM_017001784.1	28	10869	XP_016857273.1
	XM_017001785.1	28	10799	XP_016857274.1
	XM_017001788.1	25	5587	XP_016857277.1

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

More Information

• Set Membership: Intragenic, 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)