Hs05019355_cn

• Gene Symbol: RNF216
• Assay Reference Genome Location: Chr.7:5673586 on build GRCh38
• Cytoband: 7p22.1

Target Gene Details

• Entrez Gene ID: 54476
• Gene Name: ring finger protein 216
• Gene Aliases: CAHH, TRIAD3, U7I1, UBCE7IP1, ZIN
• Location: Chr.7:5620041-5781730 on Build GRCh38
• Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF216	NM_207111.3			NP_996994.1
	NM_207116.2			NP_996999.1
	XM_005249785.2			XP_005249842.1
	XM_011515436.1			XP_011513738.1
	XM_017012363.1			XP_016867852.1
	XM_017012364.1			XP_016867853.1
	XM_017012365.1			XP_016867854.1
	AF228527.1			AAF36723.1
	AF513717.1			AAP47174.1
	AF513718.1			AAP47175.1
	AK000916.1			BAA91422.1
	AK092767.1
	AK123635.1
	AK292396.1
	AK297231.1
	AK297416.1
	AK314332.1
	AY062174.1			AAL38043.1
	AY177396.1			AAO60361.1
	AY177397.1			AAO60362.1
	AY177398.1			AAO60363.1
	BC000787.2			AAH00787.2
	BC063825.1			AAH63825.1
	BX537406.1			CAD97648.1

Target Gene Details

• Entrez Gene ID: 100874342
• Gene Name: RNF216 intronic transcript 1
• Gene Aliases: -
• Location: Chr.7:5662432-5680461 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF216-IT1	NR_046834.1
	AA825874.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1028652	Chr.7:5666576 - 5729858 on Build GRCh38	Loss	MIR6874 RNF216-IT1 RNF216
nsv436904	Chr.7:5035574 - 6713282 on Build GRCh38	Insertion	RNF216-IT1 ZNF815P ZNF12 ACTB AIMP2 ZNF853 CCZ1 OCM WIPI2 ZNF890P RBAK-RBAKDN RNF216 RAC1 MIR589 C7orf26 RBAKDN RSPH10B KDELR2 FSCN1 LOC100129484 ANKRD61 PMS2 LOC221946 FBXL18 SLC29A4 DAGLB GRID2IP ZDHHC4 MIR6874 EIF2AK1 LOC100419773 USP42 RBAK FAM220A LOC107986762 CYTH3 ZNF316 TNRC18
esv3891028	Chr.7:5670796 - 5811011 on Build GRCh38	Gain	MIR6874 RNF216-IT1 RNF216

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ubiquitin-protein ligase, protein modifying enzyme

Gene Ontology Categories:

Process(es)

apoptotic process
viral process
negative regulation of type I interferon production
regulation of interferon-beta production
proteasome-mediated ubiquitin-dependent protein catabolic process
regulation of defense response to virus by host
protein K48-linked ubiquitination
protein linear polyubiquitination

Function(s)

ubiquitin-protein transferase activity
protein binding
ligase activity
ubiquitin binding
metal ion binding
ubiquitin protein ligase activity