Hs00203011_cn

• Gene Symbol: CCDC125
• Assay Reference Genome Location: Chr.5:69282814 on build GRCh38
• Cytoband: 5q13.2

Target Gene Details

• Entrez Gene ID: 202243
• Gene Name: coiled-coil domain containing 125
• Gene Aliases: KENAE
• Location: Chr.5:69273087-69333069 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCDC125	NM_001297696.1	11	1342	NP_001284625.1
	NM_001297697.1	13	1398	NP_001284626.1
	NM_176816.4	12	1559	NP_789786.2
	XM_005248458.4	12	1796	XP_005248515.1
	XM_005248459.4	12	1598	XP_005248516.1
	XM_005248461.3	11	1285	XP_005248518.1
	XM_005248463.3	10	1153	XP_005248520.1
	XM_005248464.3	11	1426	XP_005248521.1
	XM_006714569.3	12	1586	XP_006714632.1
	XM_006714570.3	12	1370	XP_006714633.1
	XM_011543255.2	12	1576	XP_011541557.1
	XM_011543256.2	12	1577	XP_011541558.1
	XM_011543257.2	11	1493	XP_011541559.1
	XM_011543258.2			XP_011541560.1
	XM_011543259.2			XP_011541561.1
	XM_017009206.1	12	1791	XP_016864695.1
	XM_017009207.1			XP_016864696.1
	XM_017009208.1	10	1425	XP_016864697.1
	XM_017009209.1	11	1423	XP_016864698.1
	XM_017009210.1	9	1346	XP_016864699.1
	XM_017009211.1	6	828	XP_016864700.1
	AB024691.1	12	1559	BAC57450.1
	AB024692.1	11	1262	BAC57451.1
	AK299871.1	13	1398
	BC113749.1	6	811	AAI13750.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv5694n100	Chr.5:69081291 - 69374274 on Build GRCh38	Gain	CDK7 MRPS36 AK6 SLC30A5 CCDC125 CENPH TAF9 RAD17 CCNB1
nsv821643	Chr.5:69272838 - 71076658 on Build GRCh38	Loss	SMN1 SMA5 LOC647859 LOC728488 TAF9 GTF2H2C SERF1A SMN2 LOC107986351 LOC441081 LOC101928924 GUSBP3 RAD17 LOC101929599 CDK7 AK6 SERF1B LOC107986354 GTF2H2B CCDC125 OCLN GTF2H2 NAIP LOC728526 LOC653080 MARVELD2 SMA4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation