Hs03345148_cn

• Gene Symbol: ASCL5
• Assay Reference Genome Location: Chr.1:201114295 on build GRCh38
• Cytoband: 1q32.1

Target Gene Details

• Entrez Gene ID: 647219
• Gene Name: achaete-scute family bHLH transcription factor 5
• Gene Aliases: bHLHa47
• Location: Chr.1:201113953-201115372 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASCL5	NM_001270601.1	1	1078	NP_001257530.1
	AI274185.1	1	343

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428301	Chr.1:201059216 - 201191346 on Build GRCh38	Gain	CACNA1S IGFN1 TMEM9 ASCL5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
biological_process

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
molecular_function
transcription factor activity, sequence-specific DNA binding
protein dimerization activity