Hs02019813_cn

• Gene Symbol: RNF103
• Assay Reference Genome Location: Chr.2:86603477 on build GRCh38
• Cytoband: 2p11.2

Target Gene Details

• Entrez Gene ID: 7844
• Gene Name: ring finger protein 103
• Gene Aliases: HKF-1, KF-1, KF1, ZFP-103, ZFP103
• Location: Chr.2:86603393-86623877 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF103	NM_001198951.1	5	2427	NP_001185880.1
	NM_005667.3	4	3415	NP_005658.1
	AK122978.1	2	4488
	BC035053.2	4	3375	AAH35053.1
	BC110333.1	4	2565	AAI10334.1
	BQ018198.1	1	102
	D76444.1	4	3346	BAA19739.1

Target Gene Details

• Entrez Gene ID: 100526767
• Gene Name: RNF103-CHMP3 readthrough
• Gene Aliases: RNF103-VPS24
• Location: Chr.2:86503430-86721122 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF103-CHMP3	NM_001198954.1			NP_001185883.1
	AK294389.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1011590	Chr.2:86597058 - 86678991 on Build GRCh38	Gain	LOC105374845 RNF103 RNF103-CHMP3

More Information

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

Panther Classification:

Molecular Function -

ubiquitin-protein ligase, protein modifying enzyme, membrane traffic protein

Gene Ontology Categories:

Process(es)

central nervous system development
protein ubiquitination
ER-associated ubiquitin-dependent protein catabolic process

Function(s)

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