Hs00970442_cn

• Gene Symbol: SMARCC1
• Assay Reference Genome Location: Chr.3:47610294 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 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCC1	NM_003074.3	26	2933	NP_003065.3
	XM_011534034.1	26	2664	XP_011532336.1
	AK302412.1	13	1377
	AK302541.1	27	2708
	BC050564.1	26	2862	AAH50564.1
	BC113465.1	26	2881
	BC117213.1	26	2881
	U66615.1	26	2866	AAC50693.1

Target Copy Number Variation Details

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

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

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