Hs01771945_cn

• Gene Symbol: NHLH1
• Assay Reference Genome Location: Chr.1:160370776 on build GRCh38
• Cytoband: 1q23.2

Target Gene Details

• Entrez Gene ID: 4807
• Gene Name: nescient helix-loop-helix 1
• Gene Aliases: HEN1, NSCL, NSCL1, bHLHa35
• Location: Chr.1:160367071-160372848 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NHLH1	NM_005598.3	2	487	NP_005589.1
	AK313700.1	2	487
	BC013789.1	2	474	AAH13789.1
	BT006859.1	1	45	AAP35505.1
	DA612092.1	2	487
	M96739.1	2	489

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv548056	Chr.1:160363952 - 160422364 on Build GRCh38	Loss	VANGL2 NHLH1
nsv1078290	Chr.1:160370209 - 160370810 on Build GRCh38	Deletion	NHLH1

More Information

• 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
central nervous system development
cell differentiation
positive regulation of transcription from RNA polymerase II promoter

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
protein dimerization activity