Hs03051799_cn

• Gene Symbol: DNMT3L
• Assay Reference Genome Location: Chr.21:44259625 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 29947
• Gene Name: DNA methyltransferase 3 like
• Gene Aliases: -
• Location: Chr.21:44246339-44262216 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DNMT3L	NM_013369.3			NP_037501.2
	NM_175867.2			NP_787063.1
	AF194032.1			AAF05812.1
	BC002560.2			AAH02560.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv587741	Chr.21:44248288 - 44263467 on Build GRCh38	Loss	LOC105372833 DNMT3L
nsv953645	Chr.21:44156018 - 44264017 on Build GRCh38	Deletion	LOC105372833 ICOSLG DNMT3L
nsv587743	Chr.21:44255994 - 44263467 on Build GRCh38	Gain	DNMT3L
esv2723638	Chr.21:44249174 - 44593709 on Build GRCh38	Deletion	TSPEAR-AS2 TSPEAR-AS1 TRPM2-AS KRTAP10-5 KRTAP10-2 LRRC3 KRTAP10-4 TRPM2 DNMT3L AIRE LOC105372833 C21orf2 LRRC3-AS1 PFKL KRTAP10-6 LOC100505727 KRTAP10-3 KRTAP10-1 TSPEAR
nsv587740	Chr.21:44209682 - 44429981 on Build GRCh38	Loss	LOC105372833 TRPM2-AS C21orf2 PFKL ICOSLG TRPM2 DNMT3L AIRE
esv33817	Chr.21:43749531 - 44647625 on Build GRCh38	Loss	TSPEAR-AS2 TSPEAR-AS1 KRTAP10-8 KRTAP10-5 LRRC3 KRTAP10-9 C21orf33 TRPM2 AIRE PDXK PWP2 C21orf2 RRP1 PFKL KRTAP10-6 KRTAP10-3 KRTAP10-1 TSPEAR ICOSLG CSTB TRPM2-AS KRTAP10-10 AGPAT3 KRTAP10-2 TRAPPC10 KRTAP10-7 KRTAP10-4 DNMT3L LOC105372833 KRTAP10-11 LRRC3-AS1 LOC100505727 AATBC

More Information

Additional Information:

For this assay, SNP(s) [rs79834782] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

DNA methyltransferase

Gene Ontology Categories:

Process(es)

DNA methylation
regulation of gene expression by genetic imprinting
spermatogenesis
positive regulation of catalytic activity
negative regulation of transcription, DNA-templated

Function(s)

protein binding
enzyme activator activity
enzyme binding
metal ion binding