Hs01868076_cn

• Gene Symbol: LEPR
• Assay Reference Genome Location: Chr.1:65429884 on build GRCh38
• Cytoband: 1p31.3

Target Gene Details

• Entrez Gene ID: 3953
• Gene Name: leptin receptor
• Gene Aliases: CD295, LEP-R, LEPRD, OB-R, OBR
• Location: Chr.1:65420652-65637493 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LEPR	NM_001003679.3			NP_001003679.1
	NM_001003680.3			NP_001003680.1
	NM_002303.5			NP_002294.2
	AK290208.1
	BC131779.1
	BX475249.1
	U43168.1			AAA93015.1
	U66495.1			AAB07495.1
	U66496.1			AAB07496.1
	U66497.1			AAB07497.1

Target Gene Details

• Entrez Gene ID: 54741
• Gene Name: leptin receptor overlapping transcript
• Gene Aliases: LEPR, OB-RGRP, OBRGRP, VPS55
• Location: Chr.1:65420448-65436007 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LEPROT	NM_001198681.1			NP_001185610.1
	NM_017526.4			NP_059996.1
	AK074841.1
	AK309370.1
	BC011027.2			AAH11027.2
	BC056250.1			AAH56250.1
	BI715133.1
	CB140261.1
	CR541647.1			CAG46448.1
	CR541737.1			CAG46537.1
	Y12670.1			CAA73211.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv546438	Chr.1:65396115 - 65484373 on Build GRCh38	Gain	LEPR LEPROT DNAJC6
nsv830081	Chr.1:65420397 - 65597117 on Build GRCh38	Gain	LEPR LEPROT
nsv830070	Chr.1:65334238 - 65516971 on Build GRCh38	Gain	LEPR LEPROT DNAJC6
dgv174n100	Chr.1:65386381 - 65506395 on Build GRCh38	Gain	LEPR LEPROT DNAJC6
nsv997944	Chr.1:65389160 - 65442799 on Build GRCh38	Gain	LEPR LEPROT DNAJC6
nsv528808	Chr.1:65386076 - 65513234 on Build GRCh38	Gain	LEPR LEPROT DNAJC6

More Information

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

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

Process(es)

angiogenesis
energy reserve metabolic process
cell surface receptor signaling pathway
multicellular organism development
cholesterol metabolic process
negative regulation of autophagy
sexual reproduction
T cell differentiation
leptin-mediated signaling pathway
glucose homeostasis
response to leptin
negative regulation of gluconeogenesis
regulation of bone remodeling
negative regulation of hydrolase activity
regulation of feeding behavior
energy homeostasis
bone growth
regulation of energy homeostasis
negative regulation of JAK-STAT cascade
negative regulation of growth hormone receptor signaling pathway
positive regulation of protein targeting to mitochondrion
negative regulation of protein localization to cell surface

Function(s)

transmembrane signaling receptor activity
protein binding
leptin receptor activity
receptor binding