Hs01644496_cn

• Gene Symbol: AUP1
• Assay Reference Genome Location: Chr.2:74527848 on build GRCh38
• Cytoband: 2p13.1

Target Gene Details

• Entrez Gene ID: 550
• Gene Name: ancient ubiquitous protein 1
• Gene Aliases: -
• Location: Chr.2:74526648-74529897 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AUP1	NM_181575.4			NP_853553.1
	NR_126510.1
	NR_126511.1
	XM_005264392.3			XP_005264449.1
	AF100746.1			AAD43010.1
	AF100753.1			AAD43017.1
	AF100754.1			AAD43018.1
	AF165515.1			AAF86645.1
	AI206563.1
	AK023983.1			BAB14753.1
	AK055566.1	4	1629
	AK293121.1
	AK304886.1
	AK308231.1
	AK310159.1
	BC033646.2
	CR749661.1			CAH18454.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv582214	Chr.2:74367887 - 74531807 on Build GRCh38	Loss	PCGF1 MOGS INO80B-WBP1 WDR54 C2orf81 TLX2 CCDC142 INO80B AUP1 HTRA2 RTKN DCTN1 DQX1 DCTN1-AS1 LBX2-AS1 WBP1 MRPL53 TTC31 LBX2
esv2759061	Chr.2:74252797 - 74535298 on Build GRCh38	Loss	PCGF1 MOGS INO80B-WBP1 WDR54 C2orf81 TLX2 CCDC142 LOXL3 INO80B SLC4A5 AUP1 HTRA2 RTKN DCTN1 DQX1 DCTN1-AS1 LBX2-AS1 WBP1 MRPL53 TTC31 LBX2

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

ER-associated ubiquitin-dependent protein catabolic process
retrograde protein transport, ER to cytosol
regulation of catalytic activity

Function(s)

protein binding
ubiquitin binding
ubiquitin-protein transferase activator activity