Hs00590385_cn

• Gene Symbol: SFMBT1
• Assay Reference Genome Location: Chr.3:52904767 on build GRCh38
• Cytoband: 3p21.1

Target Gene Details

• Entrez Gene ID: 51460
• Gene Name: Scm-like with four mbt domains 1
• Gene Aliases: RU1, SFMBT, hSFMBT
• Location: Chr.3:52899209-53046655 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SFMBT1	NM_016329.3	21	3358	NP_057413.2
	XM_005265221.3	21	3474	XP_005265278.1
	XM_006713203.3	22	3596	XP_006713266.1
	XM_006713204.3	21	3296	XP_006713267.1
	XM_011533824.2	22	3472	XP_011532126.1
	XM_011533825.2	22	3319	XP_011532127.1
	AB189472.1	20	2982	BAE43835.1
	AF168132.1	21	3295	AAF19794.1
	AL080140.1	17	2507	CAB45734.1
	BC014614.2	21	3242	AAH14614.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2762328	Chr.3:52740868 - 52968134 on Build GRCh38	Loss	MUSTN1 ITIH4 TMEM110 NEK4 ITIH3 ITIH1 ITIH4-AS1 TMEM110-MUSTN1 MIR8064 SFMBT1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
spermatogenesis
covalent chromatin modification
cell differentiation
negative regulation of transcription, DNA-templated
negative regulation of muscle organ development

Function(s)

transcription corepressor activity
protein binding
histone binding