Hs05351694_cn

• Gene Symbol: AP4E1
• Assay Reference Genome Location: Chr.15:50910451 on build GRCh38
• Cytoband: 15q21.2

Target Gene Details

• Entrez Gene ID: 23431
• Gene Name: adaptor related protein complex 4 epsilon 1 subunit
• Gene Aliases: CPSQ4, SPG51, STUT1
• Location: Chr.15:50908569-51005900 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4E1	NM_001252127.1			NP_001239056.1
	NM_007347.4			NP_031373.2
	XM_005254264.3			XP_005254321.1
	XM_006720447.3			XP_006720510.1
	XM_017022042.1			XP_016877531.1
	AB030653.1			BAA82969.1
	AF155156.2			AAD43326.2
	AK297290.1
	BC126308.1
	BC130466.1
	CR749604.1			CAH18399.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv569403	Chr.15:50899224 - 51012176 on Build GRCh38	Loss	DCAF13P3 AP4E1
nsv569398	Chr.15:50496928 - 51002798 on Build GRCh38	Loss	DCAF13P3 USP8 USP50 AP4E1 SPPL2A TRPM7
nsv1047443	Chr.15:50452584 - 51354826 on Build GRCh38	Gain	GLDN USP8 TNFAIP8L3 CYP19A1 PIRC66 USP50 TRPM7 MIR7973-2 MIR7973-1 MIR4713 DCAF13P3 AP4E1 SPPL2A
nsv516168	Chr.15:50822240 - 50925164 on Build GRCh38	Gain	AP4E1
nsv1038778	Chr.15:50904444 - 51064531 on Build GRCh38	Loss	DCAF13P3 TNFAIP8L3 PIRC66 AP4E1
dgv4526n54	Chr.15:50582767 - 51475068 on Build GRCh38	Gain	MIR7973-1 MIR4713 GLDN DMXL2 DCAF13P3 TNFAIP8L3 CYP19A1 PIRC66 AP4E1 SPPL2A TRPM7 MIR7973-2

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
vesicle-mediated transport