Hs01892228_cn

• Gene Symbol: RNF213
• Assay Reference Genome Location: Chr.17:80288299 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 57674
• Gene Name: ring finger protein 213
• Gene Aliases: ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57
• Location: Chr.17:80260820-80398786 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF213	NM_001256071.2	4	896	NP_001243000.2
	NM_020954.3	4	896	NP_066005.2
	XM_005257545.4	5	1084	XP_005257602.2
	XM_005257546.4	5	988	XP_005257603.2
	XM_006721995.3	5	1371	XP_006722058.1
	XM_011525084.2	5	1084	XP_011523386.1
	XM_011525086.2	5	1084	XP_011523388.1
	XM_011525087.2	5	1084	XP_011523389.1
	AB046838.1	1	341	BAB13444.1
	AB537889.1	4	889
	AL832920.1	4	887	CAH10615.1
	BC036891.1	4	912	AAH36891.1
	BC040341.1	4	887	AAH40341.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv469591	Chr.17:80085322 - 80293486 on Build GRCh38	Loss	SLC26A11 GAA LOC105371920 EIF4A3 SGSH CARD14 CCDC40 MIR1268B RNF213
nsv1066976	Chr.17:80256448 - 80351468 on Build GRCh38	Gain	RNF213
nsv457968	Chr.17:80205094 - 80292960 on Build GRCh38	Loss	SLC26A11 SGSH CARD14 RNF213
esv3641371	Chr.17:80277452 - 80297499 on Build GRCh38	Loss	RNF213
nsv833562	Chr.17:80114523 - 80301339 on Build GRCh38	Loss	SLC26A11 GAA LOC105371920 EIF4A3 SGSH CARD14 RNF213
esv3641370	Chr.17:80274417 - 80303391 on Build GRCh38	Loss	RNF213

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein polyubiquitination
angiogenesis
sprouting angiogenesis
ubiquitin-dependent protein catabolic process
protein ubiquitination
protein homooligomerization
protein autoubiquitination
negative regulation of non-canonical Wnt signaling pathway

Function(s)

ubiquitin-protein transferase activity
zinc ion binding
ligase activity
ATPase activity