Hs02363369_cn

• Gene Symbol: RBCK1
• Assay Reference Genome Location: Chr.20:417567 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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RBCK1	NM_001323956.1	3	917	NP_001310885.1
	NM_001323958.1	2	772	NP_001310887.1
	NM_006462.5	2	772	NP_006453.1
	NM_031229.3	3	917	NP_112506.2
	NR_136659.1	3	917
	XM_005260645.1	3	713	XP_005260702.1
	XM_011529137.1	4	836	XP_011527439.1
	XM_011529138.1	4	791	XP_011527440.1
	XM_011529139.2	4	836	XP_011527441.1
	XM_011529140.1	4	836	XP_011527442.1
	XM_017027594.1	3	962	XP_016883083.1
	XM_017027595.1	3	307	XP_016883084.1
	AB107766.1	2	103	BAC75409.1
	AK297524.1	3	663
	AK303357.1	3	632
	BC015219.2	3	630	AAH15219.2
	U67322.1	2	658	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	CSNK2A1 ANGPT4 LOC105372493 RSPO4 RBCK1 TBC1D20 SRXN1 SLC52A3 PSMF1 TRIB3 TCF15 FAM110A SCRT2
nsv1056266	Chr.20:401152 - 522755 on Build GRCh38	Gain	CSNK2A1 RBCK1 TBC1D20
esv3644956	Chr.20:405365 - 446917 on Build GRCh38	Gain	RBCK1 TBC1D20
nsv458841	Chr.20:380145 - 422066 on Build GRCh38	Loss	TRIB3 RBCK1
dgv4219n100	Chr.20:80652 - 461103 on Build GRCh38	Gain	ZCCHC3 RBCK1 DEFB132 TBC1D20 C20orf96 DEFB125 NRSN2 DEFB127 DEFB129 TRIB3 LOC101929937 SOX12 DEFB128 DEFB126 NRSN2-AS1
esv3893263	Chr.20:216521 - 434561 on Build GRCh38	Loss	TRIB3 LOC101929937 ZCCHC3 RBCK1 DEFB132 SOX12 C20orf96 NRSN2-AS1 NRSN2 DEFB129

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