Hs06824650_cn

• Gene Symbol: DMRT1
• Assay Reference Genome Location: Chr.9:858270 on build GRCh38
• Cytoband: 9p24.3

Target Gene Details

• Entrez Gene ID: 1761
• Gene Name: doublesex and mab-3 related transcription factor 1
• Gene Aliases: CT154, DMT1
• Location: Chr.9:841647-969090 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DMRT1	NM_021951.2			NP_068770.2
	XM_006716732.1			XP_006716795.1
	XM_011517770.1			XP_011516072.1
	XM_011517771.1			XP_011516073.1
	XM_011517772.1			XP_011516074.1
	XM_011517773.2			XP_011516075.1
	XM_017014374.1			XP_016869863.1
	XM_017014375.1			XP_016869864.1
	AF130728.1			AAD40474.1
	AJ276801.1			CAB82851.1
	AK310336.1
	AK313594.1
	AL162131.1			CAB82427.1
	AY442914.1			AAR89619.1
	BC040847.1			AAH40847.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3619193	Chr.9:514830 - 877545 on Build GRCh38	Gain	LOC107987042 KANK1 DMRT1
nsv1023836	Chr.9:646024 - 877740 on Build GRCh38	Loss	LOC107987042 KANK1 DMRT1
esv3619231	Chr.9:857516 - 881246 on Build GRCh38	Gain	DMRT1
nsv831491	Chr.9:794113 - 974142 on Build GRCh38	Gain	DMRT1
nsv1021740	Chr.9:596826 - 923709 on Build GRCh38	Gain	LOC107987042 KANK1 DMRT1
nsv613037	Chr.9:643453 - 1138368 on Build GRCh38	Gain	LOC107987042 KANK1 DMRT1 LINC01230 DMRT3 DMRT2

More Information

Additional Information:

For this assay, SNP(s) [rs74464566] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA-binding transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
cell morphogenesis
male germ cell proliferation
transcription from RNA polymerase II promoter
spermatogenesis
sex differentiation
germ cell migration
male sex determination
intracellular signal transduction
negative regulation of meiotic nuclear division
positive regulation of mitotic nuclear division
positive regulation of transcription from RNA polymerase II promoter
male sex differentiation
oocyte development
Sertoli cell differentiation
Sertoli cell development
positive regulation of meiosis I
regulation of nodal signaling pathway
positive regulation of male gonad development

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
chromatin binding
transcription factor activity, sequence-specific DNA binding
protein homodimerization activity
metal ion binding
protein heterodimerization activity