Hs01032290_cn

• Gene Symbol: SMARCA5
• Assay Reference Genome Location: Chr.4:143525486 on build GRCh38
• Cytoband: 4q31.21

Target Gene Details

• Entrez Gene ID: 8467
• Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
• Gene Aliases: ISWI, SNF2H, WCRF135, hISWI, hSNF2H
• Location: Chr.4:143513463-143557489 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCA5	NM_003601.3			NP_003592.3
	AB010882.1			BAA25173.1
	AK302841.1
	AK308424.1
	AK316444.1
	BC023144.1			AAH23144.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759288	Chr.4:143427140 - 144210439 on Build GRCh38	Gain+Loss	GUSBP5 FREM3 LOC105377458 LOC101927636 SMARCA5-AS1 SMARCA5 GYPA GAB1 GYPE GYPB
nsv830103	Chr.4:143472245 - 143631892 on Build GRCh38	Loss	GUSBP5 FREM3 SMARCA5-AS1 SMARCA5 GAB1

More Information

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

Panther Classification:

Molecular Function -

DNA helicase

Gene Ontology Categories:

Process(es)

chromatin silencing at rDNA
double-strand break repair
nucleosome assembly
chromatin remodeling
DNA-templated transcription, initiation
regulation of transcription from RNA polymerase II promoter
covalent chromatin modification
nucleosome positioning
CENP-A containing nucleosome assembly
ATP-dependent chromatin remodeling
positive regulation of gene expression, epigenetic
positive regulation of transcription, DNA-templated

Function(s)

DNA binding
helicase activity
protein binding
ATP binding
ATPase activity
nucleosome binding
histone binding