Hs04538171_cn

• Gene Symbol: PRDM16
• Assay Reference Genome Location: Chr.1:3075604 on build GRCh38
• Cytoband: 1p36.32

Target Gene Details

• Entrez Gene ID: 63976
• Gene Name: PR domain 16
• Gene Aliases: CMD1LL, LVNC8, MEL1, PFM13
• Location: Chr.1:3069025-3438621 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRDM16	NM_022114.3			NP_071397.3
	NM_199454.2			NP_955533.2
	XM_005244772.4			XP_005244829.1
	XM_005244773.4			XP_005244830.1
	XM_005244774.4			XP_005244831.1
	XM_006710814.3			XP_006710877.1
	XM_017002050.1			XP_016857539.1
	AB051462.2
	AB078876.1			BAB84297.1
	AF294278.1			AAG33382.1
	BC161614.1
	BQ897896.1
	BX092842.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3585036	Chr.1:3004067 - 3089193 on Build GRCh38	Gain	PRDM16 ACTRT2 LINC00982
nsv829759	Chr.1:3006585 - 3094573 on Build GRCh38	Loss	PRDM16 ACTRT2 LINC00982
nsv824697	Chr.1:3059293 - 3078148 on Build GRCh38	Gain	PRDM16 LINC00982
nsv951959	Chr.1:3051037 - 3812036 on Build GRCh38	Deletion	LOC105378604 WRAP73 MEGF6 TP73 MIR4251 LINC00982 SMIM1 LRRC47 TP73-AS1 PRDM16 CCDC27 TPRG1L MIR551A ARHGEF16
nsv545098	Chr.1:3009815 - 3089567 on Build GRCh38	Loss	PRDM16 ACTRT2 LINC00982
nsv1013792	Chr.1:3005296 - 3391724 on Build GRCh38	Gain	LOC105378604 PRDM16 MIR4251 ACTRT2 LINC00982
nsv1000306	Chr.1:3031140 - 3164376 on Build GRCh38	Gain	PRDM16 MIR4251 LINC00982
esv3583359	Chr.1:2777970 - 3286320 on Build GRCh38	Gain	PRDM16 MIR4251 ACTRT2 LINC00982 TTC34
dgv11n100	Chr.1:2777886 - 3350773 on Build GRCh38	Gain	LOC105378604 PRDM16 MIR4251 ACTRT2 LINC00982 TTC34
nsv428399	Chr.1:2622539 - 3235926 on Build GRCh38	Gain	PRDM16 MIR4251 ACTRT2 LINC00982 TTC34 MMEL1

More Information

Additional Information:

For this assay, SNP(s) [rs543516272] 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 -

C2H2 zinc finger transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
neurogenesis
negative regulation of transforming growth factor beta receptor signaling pathway
histone lysine methylation
somatic stem cell population maintenance
regulation of cellular respiration
tongue development
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
white fat cell differentiation
brown fat cell differentiation
palate development
positive regulation of brown fat cell differentiation

Function(s)

transcription coactivator activity
protein binding
histone-lysine N-methyltransferase activity
activating transcription factor binding
sequence-specific DNA binding
SMAD binding
metal ion binding