Hs02210314_cn

• Gene Symbol: NPAS4
• Assay Reference Genome Location: Chr.11:66425178 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 266743
• Gene Name: neuronal PAS domain protein 4
• Gene Aliases: Le-PAS, NXF, PASD10, bHLHe79
• Location: Chr.11:66409158-66426707 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NPAS4	NM_001318804.1	6	2354	NP_001305733.1
	NM_178864.3	7	2464	NP_849195.2
	XM_017017537.1	9	3903	XP_016873026.1
	XM_017017538.1	3	1616	XP_016873027.1
	AB049469.1	7	2389	BAC19830.1
	AK094025.1	4	1769	BAC04271.1
	AK096253.1	7	2464	BAC04738.1
	BC105001.1	7	2377	AAI05002.1
	BC105003.1	7	2377	AAI05004.1
	BC143630.1	6	2267

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832193	Chr.11:66352868 - 66511334 on Build GRCh38	Loss	BBS1 LOC102724064 MRPL11 LOC101928069 NPAS4 DPP3 PELI3 SLC29A2

More Information

Additional Information:

For this assay, SNP(s) [rs77039322] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

transcription from RNA polymerase II promoter
positive regulation of transcription from RNA polymerase II promoter
inhibitory postsynaptic potential
cellular response to corticosterone stimulus

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
protein heterodimerization activity