Hs02156729_cn

• Gene Symbol: SMARCC1
• Assay Reference Genome Location: Chr.3:47587391 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 6599
• Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1
• Gene Aliases: BAF155, CRACC1, Rsc8, SRG3, SWI3
• Location: Chr.3:47585888-47781915 on Build GRCh38
• Assay Gene Location: Within Exon 29

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCC1	NM_003074.3	28	4254	NP_003065.3
	XM_011534034.1	28	3985	XP_011532336.1
	BC050564.1	28	4183	AAH50564.1
	U66615.1	28	4187	AAC50693.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv3807	Chr.3:47558395 - 47607814 on Build GRCh38	Insertion	SMARCC1 CSPG5
nsv428417	Chr.3:46638962 - 47778557 on Build GRCh38	Loss	PRSS46 ELP6 PRSS43 KIF9-AS1 KLHL18 NRADDP PRSS45 PTH1R KIF9 TMIE SETD2 MYL3 PRSS50 SCAP CCDC12 PTPN23 NBEAL2 PRSS42 ALS2CL SMARCC1 SNORD13P3 CSPG5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

nucleosome disassembly
chromatin remodeling
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
nervous system development
insulin receptor signaling pathway
organ morphogenesis
covalent chromatin modification
prostate gland development
negative regulation of proteasomal ubiquitin-dependent protein catabolic process
ATP-dependent chromatin remodeling
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II distal enhancer sequence-specific DNA binding
transcription coactivator activity
protein binding
nucleosomal DNA binding
protein N-terminus binding