Hs07040907_cn

• Gene Symbol: BBOF1
• Assay Reference Genome Location: Chr.14:74041403 on build GRCh38
• Cytoband: 14q24.3

Target Gene Details

• Entrez Gene ID: 80127
• Gene Name: basal body orientation factor 1
• Gene Aliases: C14orf45, CCDC176
• Location: Chr.14:74019350-74078351 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBOF1	NM_025057.2			NP_079333.2
	XM_005268092.3			XP_005268149.1
	XM_005268097.3			XP_005268154.1
	XM_005268098.4			XP_005268155.1
	XM_011537170.2			XP_011535472.1
	XM_011537171.2			XP_011535473.1
	XM_011537172.1			XP_011535474.1
	XM_011537174.2			XP_011535476.1
	XM_011537175.2			XP_011535477.1
	XM_011537176.2			XP_011535478.1
	XM_011537177.2			XP_011535479.1
	XM_011537178.2			XP_011535480.1
	XM_011537179.2			XP_011535481.1
	XM_017021659.1			XP_016877148.1
	XM_017021660.1			XP_016877149.1
	XM_017021661.1			XP_016877150.1
	XM_017021662.1			XP_016877151.1
	XM_017021663.1			XP_016877152.1
	AK097531.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1053281	Chr.14:73518500 - 74050155 on Build GRCh38	Gain	FAM161B DNAL1 ZNF410 LOC100506476 ACOT4 PNMA1 ENTPD5 COQ6 LOC100506498 ACOT1 HEATR4 BBOF1 ACOT2 MIR4505 ACOT6 PTGR2 ELMSAN1
esv3634930	Chr.14:74037013 - 74045595 on Build GRCh38	Loss	BBOF1
dgv1937n100	Chr.14:73950133 - 74115803 on Build GRCh38	Gain	LIN52 ENTPD5 FAM161B COQ6 ALDH6A1 BBOF1
dgv1938n100	Chr.14:73984364 - 74075786 on Build GRCh38	Gain	ENTPD5 ALDH6A1 BBOF1
esv2664109	Chr.14:74036990 - 74045584 on Build GRCh38	Deletion	BBOF1

More Information

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

Gene Ontology Categories:

Process(es)

motile cilium assembly