Hs01239591_cn

• Gene Symbol: CEP89
• Assay Reference Genome Location: Chr.19:32879234 on build GRCh38
• Cytoband: 19q13.11

Target Gene Details

• Entrez Gene ID: 84902
• Gene Name: centrosomal protein 89
• Gene Aliases: CCDC123, CEP123
• Location: Chr.19:32875925-32972029 on Build GRCh38
• Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CEP89	NM_032816.4	19	2435	NP_116205.3
	XM_005259344.3	19	2358	XP_005259401.1
	XM_011527425.2	16	1882	XP_011525727.1
	AK027546.1	18	2136	BAB55190.1
	AL832158.1	18	2258
	BC136328.1	19	2350
	BU628988.1	1	253
	DB539713.2	4	456

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1062926	Chr.19:32828718 - 32904288 on Build GRCh38	Loss	TDRD12 SLC7A9 CEP89
nsv516922	Chr.19:32844072 - 32883216 on Build GRCh38	Loss	SLC7A9 CEP89
nsv1060014	Chr.19:32854920 - 33011720 on Build GRCh38	Gain	FAAP24 RHPN2 SLC7A9 CEP89

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mitochondrion organization
chemical synaptic transmission
nonmotile primary cilium assembly
cilium assembly

Function(s)

protein binding