Hs01663429_cn

• Gene Symbol: AUP1
• Assay Reference Genome Location: Chr.2:74529623 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 1 - Exon 1

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
	AK023983.1			BAB14753.1
	AK055566.1
	AK293121.1
	AK301398.1
	AK304886.1
	AK308231.1
	AK310159.1
	BC033646.2
	CR749661.1			CAH18454.2
	CR999537.1
	CX164419.1
	HY078082.1

Target Gene Details

• Entrez Gene ID: 27429
• Gene Name: HtrA serine peptidase 2
• Gene Aliases: OMI, PARK13, PRSS25
• Location: Chr.2:74529405-74533556 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HTRA2	NM_001321727.1	1	219	NP_001308656.1
	NM_001321728.1	1	219	NP_001308657.1
	NM_013247.4	1	219	NP_037379.1
	NM_145074.2	1	219	NP_659540.1
	NR_135769.1	1	219
	NR_135770.1	1	219
	NR_135771.1	1	219
	NR_135772.1	1	219
	AF141305.1	1	219	AAF66596.1

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

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein, serine protease

Gene Ontology Categories:

Process(es)

ER-associated ubiquitin-dependent protein catabolic process
retrograde protein transport, ER to cytosol
regulation of catalytic activity
proteolysis
ceramide metabolic process
mitochondrion organization
adult walking behavior
intrinsic apoptotic signaling pathway in response to DNA damage
response to herbicide
positive regulation of cell death
protein autoprocessing
pentacyclic triterpenoid metabolic process
forebrain development
cellular response to oxidative stress
cellular response to heat
cellular response to interferon-beta
regulation of multicellular organism growth
positive regulation of apoptotic process
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
cellular protein catabolic process
negative regulation of cell cycle
neuron development
cellular response to retinoic acid
cellular response to growth factor stimulus
execution phase of apoptosis
negative regulation of neuron death
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
regulation of mitophagy
positive regulation of protein targeting to mitochondrion
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway

Function(s)

protein binding
ubiquitin binding
ubiquitin-protein transferase activator activity
serine-type endopeptidase activity
peptidase activity
serine-type peptidase activity
unfolded protein binding