Hs01795334_cn

• Gene Symbol: CNPPD1
• Assay Reference Genome Location: Chr.2:219176272 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 27013
• Gene Name: cyclin Pas1/PHO80 domain containing 1
• Gene Aliases: C2orf24, CGI-57
• Location: Chr.2:219171897-219178174 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNPPD1	NM_001321389.1	3	557	NP_001308318.1
	NM_001321390.1	3	202	NP_001308319.1
	NM_001321391.1	3	236	NP_001308320.1
	NM_015680.5	2	294	NP_056495.3
	NR_135628.1	3	236
	NR_135629.1	2	294
	AF151815.1	3	461	AAD34052.1
	AK075274.1	2	250
	AK311656.1	2	231
	AK314975.1	2	237
	AY007160.1	2	267	AAG02008.1
	BC001393.2	2	217	AAH01393.1
	BC012821.2	2	266	AAH12821.1
	BI912613.1	3	203
	CR457401.1	2	129	CAG33682.1
	CX166359.1	3	553
	DB477110.1	2	281
	HY106884.1	2	294

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv3170	Chr.2:219173471 - 219201899 on Build GRCh38	Deletion	FAM134A CNPPD1
nsv508200	Chr.2:219134744 - 219202175 on Build GRCh38	Deletion	FAM134A NHEJ1 SLC23A3 CNPPD1
esv3893555	Chr.2:219172722 - 219273269 on Build GRCh38	Loss	FAM134A TUBA4B ABCB6 STK16 TUBA4A GLB1L ATG9A ZFAND2B ANKZF1 CNPPD1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of cyclin-dependent protein serine/threonine kinase activity

Function(s)

protein kinase binding