Hs02732815_cn

• Gene Symbol: AP4E1
• Assay Reference Genome Location: Chr.15:50930882 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 Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4E1	NM_001252127.1	7	910	NP_001239056.1
	NM_007347.4	7	887	NP_031373.2
	XM_005254264.3	7	705	XP_005254321.1
	XM_006720447.3	7	1065	XP_006720510.1
	XM_017022042.1	7	832	XP_016877531.1
	AB030653.1	7	810	BAA82969.1
	AF155156.2	7	819	AAD43326.2
	AK297290.1	7	887
	BC126308.1	7	886
	BC130466.1	7	886
	CR749604.1	7	787	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 TRPM7 SPPL2A USP50 AP4E1 USP8
nsv1047443	Chr.15:50452584 - 51354826 on Build GRCh38	Gain	CYP19A1 MIR7973-2 DCAF13P3 MIR7973-1 USP50 USP8 MIR4713 GLDN TNFAIP8L3 TRPM7 SPPL2A AP4E1 PIRC66
nsv1038778	Chr.15:50904444 - 51064531 on Build GRCh38	Loss	TNFAIP8L3 DCAF13P3 AP4E1 PIRC66
dgv4526n54	Chr.15:50582767 - 51475068 on Build GRCh38	Gain	GLDN TNFAIP8L3 CYP19A1 MIR7973-2 DCAF13P3 TRPM7 SPPL2A MIR7973-1 AP4E1 PIRC66 DMXL2 MIR4713

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
vesicle-mediated transport