Hs01113885_cn

• Gene Symbol: SMARCE1
• Assay Reference Genome Location: Chr.17:40637575 on build GRCh38
• Cytoband: 17q21.2

Target Gene Details

• Entrez Gene ID: 6605
• Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
• Gene Aliases: BAF57, CSS5
• Location: Chr.17:40627720-40647851 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCE1	NM_003079.4			NP_003070.3
	AK001532.1
	AK095047.1
	AK294218.1
	AK294666.1
	BC007082.1			AAH07082.1
	BC011017.1			AAH11017.1
	BC063700.1			AAH63700.1
	BT007176.1			AAP35840.1
	EU327017.1
	EU327018.1
	EU327019.1
	EU327020.1
	EU327021.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv574994	Chr.17:40563547 - 40668384 on Build GRCh38	Gain	SMARCE1 KRT222 CCR7
esv2758689	Chr.17:40592048 - 40693852 on Build GRCh38	Gain	SMARCE1 LOC105371775 KRT222

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

nucleosome disassembly
chromatin remodeling
regulation of transcription from RNA polymerase II promoter
covalent chromatin modification
neurogenesis
ATP-dependent chromatin remodeling
negative regulation of transcription, DNA-templated

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II distal enhancer sequence-specific DNA binding
chromatin binding
transcription coactivator activity
RNA binding
protein binding
N-acetyltransferase activity
ligand-dependent nuclear receptor binding
nucleosomal DNA binding
protein N-terminus binding