Hs01680402_cn

• Gene Symbol: DEAR
• Assay Reference Genome Location: Chr.4:152337827 on build GRCh38
• Cytoband: 4q31.3

Target Gene Details

• Entrez Gene ID: 102191832
• Gene Name: dual endothelin-1(VEGFsp)/angiotensin II receptor pseudogene
• Gene Aliases: DEspR
• Location: Chr.4:152337655-152338096 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEAR	NR_104273.1
	EF212178.1

Target Gene Details

• Entrez Gene ID: 55294
• Gene Name: F-box and WD repeat domain containing 7
• Gene Aliases: AGO, CDC4, FBW6, FBW7, FBX30, FBXO30, FBXW6, SEL-10, SEL10, hAgo, hCdc4
• Location: Chr.4:152321258-152536095 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FBXW7	NM_001013415.1			NP_001013433.1
	NM_018315.4			NP_060785.2
	NM_033632.3			NP_361014.1
	XM_011532083.1			XP_011530385.1
	XM_011532084.1			XP_011530386.1
	XM_011532085.1			XP_011530387.1
	XM_011532086.1			XP_011530388.1
	XM_011532087.1			XP_011530389.1
	XM_011532088.1			XP_011530390.1
	XM_017008362.1			XP_016863851.1
	AB209725.1			BAD92962.1
	AF383178.1			AAK60269.1
	AF411971.1			AAL06290.1
	AF411972.1			AAL06291.1
	AK001933.1			BAA91986.1
	AK223449.1			BAD97169.1
	AK294568.1
	AK299722.1
	AK315142.1
	AY008274.1			AAG16640.1
	AY033553.1			AAK57547.1
	AY049984.1			AAL07271.1
	BC037320.2			AAH37320.1
	BC117244.1
	BC117246.1
	BC143944.1
	BX498391.1
	CR749305.1			CAH18160.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv4553	Chr.4:152323453 - 152349980 on Build GRCh38	Insertion	DEAR FBXW7
dgv5442n100	Chr.4:152331622 - 152388386 on Build GRCh38	Loss	DEAR FBXW7
dgv5439n100	Chr.4:152321467 - 152364755 on Build GRCh38	Loss	DEAR FBXW7
nsv1031970	Chr.4:152308716 - 152413464 on Build GRCh38	Gain	DEAR FBXW7

More Information

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

Gene Ontology Categories:

Process(es)

protein polyubiquitination
vasculature development
sister chromatid cohesion
negative regulation of triglyceride biosynthetic process
regulation of lipid storage
viral process
protein ubiquitination
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
positive regulation of protein ubiquitination
negative regulation of DNA endoreduplication
regulation of protein localization
positive regulation of epidermal growth factor-activated receptor activity
negative regulation of Notch signaling pathway
protein stabilization
positive regulation of ubiquitin-protein transferase activity
lipid homeostasis
positive regulation of ERK1 and ERK2 cascade
positive regulation of proteasomal protein catabolic process
regulation of cell cycle G1/S phase transition
regulation of mitophagy
positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
positive regulation of protein targeting to mitochondrion
positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
negative regulation of hepatocyte proliferation
negative regulation of SREBP signaling pathway

Function(s)

ubiquitin-protein transferase activity
protein binding
cyclin binding
protein binding, bridging
ubiquitin protein ligase binding
identical protein binding
phosphothreonine binding
ubiquitin-protein transferase activator activity