Hs00379716_cn

• Gene Symbol: AP4M1
• Assay Reference Genome Location: Chr.7:100102880 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 9179
• Gene Name: adaptor related protein complex 4 mu 1 subunit
• Gene Aliases: CPSQ3, MU-4, MU-ARP2, SPG50
• Location: Chr.7:100101413-100107180 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4M1	NM_004722.3			NP_004713.2
	XM_005250689.4			XP_005250746.1
	XM_005250690.4			XP_005250747.1
	XM_006716175.3			XP_006716238.1
	XM_011516685.2			XP_011514987.1
	XM_017012790.1			XP_016868279.1
	XM_017012791.1			XP_016868280.1
	AF020796.1			AAD25869.1
	AF155158.1			AAD43328.1
	AK055686.1
	AK293590.1
	AK296651.1
	AK304489.1
	AK315782.1
	BC018705.1			AAH18705.1
	BX640759.1			CAE45865.1
	DC413622.1
	Y08387.1			CAA69667.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv607931	Chr.7:100067194 - 100198523 on Build GRCh38	Loss	ZNF3 GPC2 MIR106B MIR25 LAMTOR4 C7orf43 TAF6 MIR93 STAG3 AP4M1 MCM7 MBLAC1 MIR4658 GAL3ST4 GATS COPS6 CNPY4
nsv469687	Chr.7:99974920 - 100157518 on Build GRCh38	Loss	ZNF3 ZSCAN21 AZGP1 MIR106B AZGP1P1 MIR25 LAMTOR4 ZKSCAN1 C7orf43 TAF6 MIR93 AP4M1 MCM7 MBLAC1 MIR4658 COPS6 CNPY4
nsv951384	Chr.7:100100678 - 100114877 on Build GRCh38	Deletion	TAF6 AP4M1 MCM7
esv2734888	Chr.7:99975623 - 101290285 on Build GRCh38	Deletion	VGF TSC22D4 PVRIG ZSCAN21 CLDN15 ACHE C7orf61 STAG3L5P-PVRIG2P-PILRB AZGP1P1 MUC12 PMS2P1 MIR6875 ZAN MOSPD3 SAP25 STAG3 PILRA MIR4658 PPP1R35 SRRT UFSP1 COPS6 PVRIG2P TRIP6 GPC2 AZGP1 FIS1 AGFG2 ZCWPW1 AP4M1 ACTL6B ZNHIT1 MBLAC1 MUC3A ZNF3 EPO NAT16 SERPINE1 MIR106B ZASP LAMTOR4 SLC12A9 MEPCE LRCH4 MCM7 GAL3ST4 FBXO24 PCOLCE AP1S1 MIR4653 PCOLCE-AS1 NYAP1 MIR25 EPHB4 MUC17 MOGAT3 STAG3L5P PLOD3 ZKSCAN1 GIGYF1 C7orf43 TAF6 MIR93 PILRB POP7 LOC102724094 TFR2 LOC105375429 SPDYE3 TRIM56 GATS GNB2 MIR6840 CNPY4

More Information

Additional Information:

For this assay, SNP(s) [rs74961284] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
Golgi to endosome transport
vesicle-mediated transport

Function(s)

transporter activity
protein binding