Hs02044326_cn

• Gene Symbol: LOC100294362
• Assay Reference Genome Location: Chr.17:80354111 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 100294362
• Gene Name: uncharacterized LOC100294362
• Gene Aliases: -
• Location: Chr.17:80351830-80415168 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100294362	NR_029376.1	2	1418
	AK125341.1	2	1369	BAC86138.1

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 38

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF213	NM_001256071.2	35	10821	NP_001243000.2
	XM_005257545.4	36	11009	XP_005257602.2
	XM_005257546.4	36	10913	XP_005257603.2
	XM_006721995.3	36	11296	XP_006722058.1
	XM_011525084.2	36	11009	XP_011523386.1
	XM_011525086.2	36	11009	XP_011523388.1
	XM_011525087.2	36	11009	XP_011523389.1
	XM_017024905.1	31	9876	XP_016880394.1
	AB537889.1	35	10814
	AK127358.1
	AK127914.1			BAC87188.1
	BX640932.1			CAE45967.1
	BX647946.1	7	1612	CAH56189.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3641372	Chr.17:80351964 - 80357069 on Build GRCh38	Loss	RNF213 LOC100294362
nsv952384	Chr.17:80344901 - 80356400 on Build GRCh38	Deletion	RNF213 LOC100294362

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