Hs02962437_cn

• Gene Symbol: AUP1
• Assay Reference Genome Location: Chr.2:74529441 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	2	377	NP_853553.1
	NR_126510.1	2	377
	NR_126511.1	2	377
	XM_005264392.3	2	243	XP_005264449.1
	AF100746.1	2	150	AAD43010.1
	AF100753.1	2	177	AAD43017.1
	AF100754.1	2	177	AAD43018.1
	AF165515.1	2	157	AAF86645.1
	AK023983.1	2	155	BAB14753.1
	AK055566.1	2	197
	AK293121.1	2	196
	AK301398.1	2	176
	AK304886.1	2	240
	AK308231.1	2	178
	AK310159.1	2	178
	BC033646.2	2	192
	CR749661.1	2	169	CAH18454.2
	CR999537.1	2	363
	CX164419.1	2	159
	HY078082.1	2	378

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: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HTRA2	NM_001321727.1			NP_001308656.1
	NM_001321728.1			NP_001308657.1
	NM_013247.4			NP_037379.1
	NM_145074.2			NP_659540.1
	NR_135769.1
	NR_135770.1
	NR_135771.1
	NR_135772.1
	AF141305.1			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	MRPL53 TTC31 DQX1 CCDC142 WBP1 INO80B-WBP1 TLX2 DCTN1-AS1 DCTN1 AUP1 LBX2 RTKN WDR54 HTRA2 C2orf81 PCGF1 LBX2-AS1 MOGS INO80B
esv2759061	Chr.2:74252797 - 74535298 on Build GRCh38	Loss	SLC4A5 MRPL53 TTC31 DQX1 LOXL3 CCDC142 WBP1 INO80B-WBP1 TLX2 DCTN1-AS1 DCTN1 AUP1 LBX2 RTKN WDR54 HTRA2 C2orf81 PCGF1 LBX2-AS1 MOGS INO80B

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