Hs02057054_cn

• Gene Symbol: AP4B1
• Assay Reference Genome Location: Chr.1:113901883 on build GRCh38
• Cytoband: 1p13.2

Target Gene Details

• Entrez Gene ID: 10717
• Gene Name: adaptor related protein complex 4 beta 1 subunit
• Gene Aliases: BETA-4, CPSQ5, SPG47
• Location: Chr.1:113894194-113905202 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4B1	NM_001253852.2			NP_001240781.1
	NM_001253853.2			NP_001240782.1
	NM_001308312.1			NP_001295241.1
	NM_006594.4			NP_006585.2
	XM_011540523.2			XP_011538825.1
	XM_011540524.2			XP_011538826.1
	XM_011540525.2			XP_011538827.1
	XM_011540528.2	2	3036	XP_011538830.1
	XM_017000088.1			XP_016855577.1
	XM_017000089.1			XP_016855578.1
	XM_017000090.1			XP_016855579.1
	XM_017000091.1			XP_016855580.1
	XM_017000092.1			XP_016855581.1
	XM_017000093.1			XP_016855582.1
	AB209817.1			BAD93054.1
	AF092094.1			AAD20448.1
	AK093740.1
	AK298037.1
	AK300204.1
	AK314641.1
	BC014146.2			AAH14146.1
	BG718098.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3587251	Chr.1:113871703 - 113936287 on Build GRCh38	Loss	DCLRE1B HIPK1 PTPN22 AP4B1 AP4B1-AS1 HIPK1-AS1 BCL2L15
esv3587240	Chr.1:113533246 - 114158910 on Build GRCh38	Loss	DCLRE1B HIPK1 OLFML3 PTPN22 AP4B1 AP4B1-AS1 SYT6 RSBN1 HIPK1-AS1 PHTF1 BCL2L15 MAGI3
nsv819786	Chr.1:113901490 - 113903616 on Build GRCh38	Loss	AP4B1
esv23869	Chr.1:113320330 - 114358495 on Build GRCh38	Loss	DCLRE1B HIPK1 OLFML3 PTPN22 AP4B1 AP4B1-AS1 SYT6 RSBN1 HIPK1-AS1 PHTF1 BCL2L15 MAGI3

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

Function(s)

transporter activity
protein binding
protein transporter activity