Hs02217308_cn

• Gene Symbol: RBCK1
• Assay Reference Genome Location: Chr.20:409892 on build GRCh38
• Cytoband: 20p13

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 Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RBCK1	NM_001323956.1			NP_001310885.1
	NM_001323958.1			NP_001310887.1
	NM_001323960.1			NP_001310889.1
	NM_006462.5			NP_006453.1
	NM_031229.3			NP_112506.2
	NR_136659.1
	XM_005260645.1	2	538	XP_005260702.1
	XM_011529137.1	2	538	XP_011527439.1
	XM_011529138.1			XP_011527440.1
	XM_011529139.2	2	538	XP_011527441.1
	XM_011529140.1	2	538	XP_011527442.1
	XM_017027594.1	2	787	XP_016883083.1
	XM_017027595.1			XP_016883084.1
	AB107766.1			BAC75409.1
	AK297524.1
	AK303357.1
	AK309414.1
	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 RBCK1 TBC1D20 TRIB3
esv3644952	Chr.20:386013 - 1119183 on Build GRCh38	Gain	CSNK2A1 TCF15 RBCK1 FAM110A SLC52A3 ANGPT4 RSPO4 TRIB3 LOC105372493 SCRT2 PSMF1 TBC1D20 SRXN1
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	RBCK1 TRIB3
nsv458841	Chr.20:380145 - 422066 on Build GRCh38	Loss	RBCK1 TRIB3
dgv4219n100	Chr.20:80652 - 461103 on Build GRCh38	Gain	DEFB126 RBCK1 DEFB127 DEFB125 LOC101929937 DEFB129 C20orf96 TRIB3 DEFB128 NRSN2-AS1 SOX12 DEFB132 NRSN2 TBC1D20 ZCCHC3
esv3893263	Chr.20:216521 - 434561 on Build GRCh38	Loss	RBCK1 NRSN2-AS1 LOC101929937 DEFB129 SOX12 DEFB132 C20orf96 NRSN2 TRIB3 ZCCHC3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ubiquitin-protein ligase, protein modifying enzyme

Gene Ontology Categories:

Process(es)

protein polyubiquitination
I-kappaB kinase/NF-kappaB signaling
regulation of tumor necrosis factor-mediated signaling pathway
viral process
negative regulation of NF-kappaB transcription factor activity
positive regulation of NF-kappaB import into nucleus
positive regulation of I-kappaB kinase/NF-kappaB signaling
proteasome-mediated ubiquitin-dependent protein catabolic process
positive regulation of transcription from RNA polymerase II promoter
T cell receptor signaling pathway
positive regulation of NF-kappaB transcription factor activity
negative regulation of necroptotic process
protein linear polyubiquitination
positive regulation of extrinsic apoptotic signaling pathway

Function(s)

double-stranded DNA binding
ubiquitin-protein transferase activity
protein kinase C binding
protein binding
zinc ion binding
ligase activity
ubiquitin binding