Hs02503062_cn

• Gene Symbol: BBOF1
• Assay Reference Genome Location: Chr.14:74049877 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 Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBOF1	NM_025057.2	8	1091	NP_079333.2
	XM_005268092.3	8	1097	XP_005268149.1
	XM_005268097.3			XP_005268154.1
	XM_005268098.4	6	730	XP_005268155.1
	XM_011537170.2	9	1205	XP_011535472.1
	XM_011537171.2	9	1205	XP_011535473.1
	XM_011537172.1	9	1205	XP_011535474.1
	XM_011537174.2	9	1205	XP_011535476.1
	XM_011537175.2	8	1061	XP_011535477.1
	XM_011537176.2	10	1189	XP_011535478.1
	XM_011537177.2	8	909	XP_011535479.1
	XM_011537178.2	8	880	XP_011535480.1
	XM_011537179.2	7	765	XP_011535481.1
	XM_017021659.1	8	1097	XP_016877148.1
	XM_017021660.1	7	813	XP_016877149.1
	XM_017021661.1	7	865	XP_016877150.1
	XM_017021662.1	6	649	XP_016877151.1
	XM_017021663.1			XP_016877152.1
	AK026842.1	1	124	BAB15572.1
	AK097531.1	6	769
	AL834487.1	3	366	CAD39145.1
	BC104979.1	1	122	AAI04980.1
	BC104981.1	1	122	AAI04982.1

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	ELMSAN1 MIR4505 PTGR2 FAM161B ACOT2 ZNF410 ACOT6 LOC100506498 PNMA1 LOC100506476 ACOT1 DNAL1 HEATR4 COQ6 ACOT4 BBOF1 ENTPD5
dgv1937n100	Chr.14:73950133 - 74115803 on Build GRCh38	Gain	ALDH6A1 FAM161B COQ6 LIN52 BBOF1 ENTPD5
dgv1938n100	Chr.14:73984364 - 74075786 on Build GRCh38	Gain	ALDH6A1 BBOF1 ENTPD5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

motile cilium assembly