Hs01252170_cn

• Gene Symbol: AUP1
• Assay Reference Genome Location: Chr.2:74528931 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: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AUP1	NM_181575.4			NP_853553.1
	NR_126510.1
	NR_126511.1	3	808
	XM_005264392.3			XP_005264449.1
	AF100746.1			AAD43010.1
	AF100753.1			AAD43017.1
	AF100754.1	3	608	AAD43018.1
	AF165515.1			AAF86645.1
	AK023983.1			BAB14753.1
	AK055566.1	2	707
	AK293121.1
	AK301398.1	3	607
	AK304886.1
	AK308231.1	3	609
	AK310159.1	3	609
	BC033646.2
	CR749661.1			CAH18454.2
	CR999537.1
	CX164419.1	3	590

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	LBX2 INO80B-WBP1 INO80B RTKN MOGS TTC31 DCTN1 C2orf81 WBP1 LBX2-AS1 WDR54 CCDC142 AUP1 DQX1 HTRA2 PCGF1 DCTN1-AS1 TLX2 MRPL53
esv2759061	Chr.2:74252797 - 74535298 on Build GRCh38	Loss	LBX2 INO80B-WBP1 INO80B RTKN MOGS TTC31 DCTN1 SLC4A5 C2orf81 WBP1 LBX2-AS1 WDR54 CCDC142 LOXL3 AUP1 DQX1 HTRA2 PCGF1 DCTN1-AS1 TLX2 MRPL53

More Information

• Set Membership: Intragenic, 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