Name: [Hs07217499_cn] [RBCK1]
Creator: Thermo Fisher Scientific
Keywords: [RBCK1] Assay, [RANBP2-type and C3HC4-type zinc finger containing 1] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	10616
Gene Name:	RANBP2-type and C3HC4-type zinc finger containing 1
Gene Aliases:	C20orf18, HOIL-1, HOIL1, PBMEI, PGBM1, RBCK2, RNF54, UBCE7IP3, XAP3, XAP4, ZRANB4
Location:	Chr.20:408050-432139 on Build GRCh38
Assay Gene Location:	Within Intron 3

Gene Symbol	Transcript Accession	Protein ID
RBCK1	NM_001323956.1	NP_001310885.1
	NM_001323958.1	NP_001310887.1
	NM_006462.5	NP_006453.1
	NM_031229.3	NP_112506.2
	NR_136659.1
	XM_005260645.1	XP_005260702.1
	XM_011529137.1	XP_011527439.1
	XM_011529138.1	XP_011527440.1
	XM_011529139.2	XP_011527441.1
	XM_011529140.1	XP_011527442.1
	XM_017027594.1	XP_016883083.1
	XM_017027595.1	XP_016883084.1
	AB107766.1	BAC75409.1
	AK297524.1
	AK303357.1
	BC015219.2	AAH15219.2
	U67322.1	AAD00162.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3644953	Chr.20:397290 - 502310 on Build GRCh38	Gain	CSNK2A1 TRIB3 RBCK1 TBC1D20
esv3644952	Chr.20:386013 - 1119183 on Build GRCh38	Gain	ANGPT4 TRIB3 SLC52A3 PSMF1 RBCK1 LOC105372493 RSPO4 CSNK2A1 TCF15 SCRT2 SRXN1 FAM110A TBC1D20
nsv1056266	Chr.20:401152 - 522755 on Build GRCh38	Gain	CSNK2A1 RBCK1 TBC1D20
esv3644956	Chr.20:405365 - 446917 on Build GRCh38	Gain	RBCK1 TBC1D20
nsv510777	Chr.20:366849 - 416704 on Build GRCh38	Deletion	TRIB3 RBCK1
nsv458841	Chr.20:380145 - 422066 on Build GRCh38	Loss	TRIB3 RBCK1
dgv4219n100	Chr.20:80652 - 461103 on Build GRCh38	Gain	DEFB128 ZCCHC3 LOC101929937 C20orf96 TRIB3 SOX12 NRSN2-AS1 DEFB127 RBCK1 DEFB129 DEFB126 NRSN2 DEFB132 TBC1D20 DEFB125
esv3893263	Chr.20:216521 - 434561 on Build GRCh38	Loss	DEFB129 ZCCHC3 LOC101929937 NRSN2 C20orf96 TRIB3 DEFB132 SOX12 NRSN2-AS1 RBCK1