Hs00546302_cn

• Gene Symbol: MSC
• Assay Reference Genome Location: Chr.8:71842249 on build GRCh38
• Cytoband: 8q13.3

Target Gene Details

• Entrez Gene ID: 9242
• Gene Name: musculin
• Gene Aliases: ABF-1, ABF1, MYOR, bHLHa22
• Location: Chr.8:71841542-71844496 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MSC	NM_005098.3	2	1351	NP_005089.2
	AF060154.1	2	1245	AAC15071.1
	AF087036.1	2	1019	AAC69870.1
	BC006313.2	2	1317	AAH06313.1
	BC067827.1	2	1326	AAH67827.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831353	Chr.8:71836557 - 72032198 on Build GRCh38	Loss	TRPA1 MSC MSC-AS1
esv2737154	Chr.8:71825978 - 73469084 on Build GRCh38	Deletion	LOC392232 LOC101926908 RDH10-AS1 RDH10 MSC-AS1 RPL7 TRPA1 STAU2-AS1 MSC C8orf89 TERF1 SBSPON KCNB2 STAU2

More Information

• Set Membership: Intragenic, 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 from RNA polymerase II promoter
branchiomeric skeletal muscle development
palate development
diaphragm development

Function(s)

RNA polymerase II distal enhancer sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding
transcription factor activity, sequence-specific DNA binding
transcription corepressor activity
protein dimerization activity