Hs03802552_cn

• Gene Symbol: ASCL3
• Assay Reference Genome Location: Chr.11:8939775 on build GRCh38
• Cytoband: 11p15.4

Target Gene Details

• Entrez Gene ID: 56676
• Gene Name: achaete-scute family bHLH transcription factor 3
• Gene Aliases: HASH3, SGN1, bHLHa42
• Location: Chr.11:8937572-8943033 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASCL3	NM_020646.2			NP_065697.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3625324	Chr.11:8936425 - 8943806 on Build GRCh38	Loss	ASCL3
nsv553451	Chr.11:8937473 - 8941217 on Build GRCh38	Loss	ASCL3
dgv191e199	Chr.11:8936445 - 8943662 on Build GRCh38	Deletion	ASCL3
dgv1640n54	Chr.11:8937356 - 8943391 on Build GRCh38	Loss	ASCL3
nsv435923	Chr.11:8817778 - 8979055 on Build GRCh38	Deletion	AKIP1 TMEM9B ASCL3 TMEM9B-AS1 ST5 C11orf16
esv2759803	Chr.11:8763266 - 8988026 on Build GRCh38	Gain	LOC102724784 AKIP1 TMEM9B NRIP3 ASCL3 TMEM9B-AS1 ST5 C11orf16
nsv832062	Chr.11:8827748 - 8987925 on Build GRCh38	Loss	AKIP1 TMEM9B NRIP3 ASCL3 TMEM9B-AS1 ST5 C11orf16

More Information

Additional Information:

For this assay, SNP(s) [rs111829358,rs116556407] 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 -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

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

Function(s)

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