Hs07202176_cn

• Gene Symbol: BFSP1
• Assay Reference Genome Location: Chr.20:17501197 on build GRCh38
• Cytoband: 20p12.1

Target Gene Details

• Entrez Gene ID: 631
• Gene Name: beaded filament structural protein 1
• Gene Aliases: CP115, CP94, CTRCT33, LIFL-H
• Location: Chr.20:17493905-17569220 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BFSP1	NM_001161705.1			NP_001155177.1
	NM_001195.4			NP_001186.1
	NM_001278606.1			NP_001265535.1
	NM_001278607.1			NP_001265536.1
	NM_001278608.1			NP_001265537.1
	XM_017028005.1			XP_016883494.1
	AF039655.1			AAB94939.1
	AK304673.1
	AK316247.1
	BC041483.1			AAH41483.1
	BQ230198.1
	Y16717.2			CAA76348.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2760670	Chr.20:17316866 - 17555369 on Build GRCh38	Gain	BFSP1 PCSK2

More Information

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

Gene Ontology Categories:

Process(es)

cytoskeleton organization
biological_process
cell maturation
lens fiber cell development

Function(s)

structural constituent of cytoskeleton
structural constituent of eye lens
protein binding