Hs00456939_cn

• Gene Symbol: DOT1L
• Assay Reference Genome Location: Chr.19:2229953 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 84444
• Gene Name: DOT1 like histone lysine methyltransferase
• Gene Aliases: DOT1, KMT4
• Location: Chr.19:2163963-2232578 on Build GRCh38
• Assay Gene Location: Within Exon 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DOT1L	NM_032482.2	28	4811	NP_115871.1
	XM_005259659.3	28	7045	XP_005259716.1
	XM_005259660.3	29	5643	XP_005259717.1
	XM_011528359.2	27	6898	XP_011526661.1
	XM_011528360.1	29	6903	XP_011526662.1
	XM_011528361.2	20	6264	XP_011526663.1
	XM_017027366.1	28	7008	XP_016882855.1
	AB058717.1	15	5521	BAB47443.1
	AF509504.1	28	4811	AAM88322.1
	AK074120.1	24	4476	BAB84946.1

Target Gene Details

• Entrez Gene ID: 55111
• Gene Name: pleckstrin homology domain containing J1
• Gene Aliases: GNRPX
• Location: Chr.19:2229952-2236724 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHJ1	NM_001300836.1			NP_001287765.1
	CN417790.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv2389	Chr.19:2206862 - 2240689 on Build GRCh38	Insertion	MIR6789 DOT1L PLEKHJ1 SF3A2 MIR1227 LOC105372239
nsv578382	Chr.19:2194897 - 2260362 on Build GRCh38	Loss	MIR6789 DOT1L MIR4321 AMH PLEKHJ1 SF3A2 MIR1227 JSRP1 LOC105372239
dgv6218n54	Chr.19:2221793 - 2336009 on Build GRCh38	Loss	DOT1L PLEKHJ1 MIR1227 OAZ1 LOC105372239 SPPL2B LSM7 MIR6789 MIR4321 AMH C19orf35 SF3A2 JSRP1 LINGO3
nsv953943	Chr.19:2169602 - 2236001 on Build GRCh38	Deletion	MIR6789 DOT1L PLEKHJ1 MIR1227 LOC105372239
nsv833706	Chr.19:2131211 - 2249764 on Build GRCh38	Loss	MIR6789 DOT1L AP3D1 AMH PLEKHJ1 SF3A2 MIR1227 LOC105372239
nsv578383	Chr.19:2214058 - 2285197 on Build GRCh38	Loss	MIR6789 DOT1L MIR4321 AMH C19orf35 PLEKHJ1 SF3A2 MIR1227 OAZ1 JSRP1 LOC105372239
nsv828395	Chr.19:2228707 - 2230740 on Build GRCh38	Loss	DOT1L PLEKHJ1
nsv828394	Chr.19:2225162 - 2230916 on Build GRCh38	Gain	DOT1L PLEKHJ1
nsv833707	Chr.19:2187092 - 2372223 on Build GRCh38	Loss	DOT1L PLEKHJ1 MIR1227 OAZ1 LOC105372239 SPPL2B LSM7 MIR6789 MIR4321 AMH C19orf35 SF3A2 JSRP1 LINGO3

More Information

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

Panther Classification:

Molecular Function -

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

Gene Ontology Categories:

Process(es)

chromatin silencing
positive regulation of cell proliferation
telomere organization
histone H3-K79 methylation
positive regulation of transcription from RNA polymerase II promoter
regulation of JAK-STAT cascade
regulation of cell cycle
regulation of transcription regulatory region DNA binding

Function(s)

DNA binding
protein binding
histone-lysine N-methyltransferase activity
histone methyltransferase activity (H3-K79 specific)
histone methyltransferase activity