Hs02430089_cn

• Gene Symbol: AP4S1
• Assay Reference Genome Location: Chr.14:31025775 on build GRCh38
• Cytoband: 14q12

Target Gene Details

• Entrez Gene ID: 11154
• Gene Name: adaptor related protein complex 4 sigma 1 subunit
• Gene Aliases: AP47B, CLA20, CLAPS4, CPSQ6, SPG52
• Location: Chr.14:31025106-31096450 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4S1	NM_001128126.2			NP_001121598.1
	NM_001254726.1			NP_001241655.1
	NM_001254727.1			NP_001241656.1
	NM_001254729.1			NP_001241658.1
	NM_007077.4			NP_009008.2
	XM_011536371.2			XP_011534673.1
	AB030654.1			BAA82970.1
	AF155159.1			AAD43329.1
	AK304115.1
	AK316517.1
	BC001259.1			AAH01259.1
	BF671561.1
	BG702035.1
	BX247969.1			CAD62307.1
	BX388185.2

Target Gene Details

• Entrez Gene ID: 29966
• Gene Name: striatin 3
• Gene Aliases: PPP2R6B, SG2NA
• Location: Chr.14:30893799-31026528 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STRN3	NM_001083893.1			NP_001077362.1
	NM_014574.3			NP_055389.3
	XM_005267569.3			XP_005267626.1
	XM_005267570.3			XP_005267627.1
	AK290229.1
	AK314041.1
	BC126221.1
	BC132673.1
	DA854600.1
	U17989.1			AAB81551.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv564169	Chr.14:30349881 - 31072288 on Build GRCh38	Gain	G2E3 LOC100506071 COCH MIR624 SCFD1 STRN3 AP4S1
nsv1233	Chr.14:31023799 - 31035069 on Build GRCh38	Insertion	STRN3 AP4S1
nsv1049063	Chr.14:31004315 - 31153535 on Build GRCh38	Gain	MIR624 STRN3 HECTD1 AP4S1
esv3892495	Chr.14:30985830 - 31116083 on Build GRCh38	Gain	MIR624 STRN3 HECTD1 AP4S1
esv33189	Chr.14:30331017 - 31442539 on Build GRCh38	Loss	HEATR5A G2E3 LOC100506071 COCH MIR624 SCFD1 STRN3 HECTD1 AP4S1 LOC101927124

More Information

Additional Information:

For this assay, SNP(s) [rs78648016] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

vesicle coat protein

Gene Ontology Categories:

Process(es)

protein transport
response to estradiol
negative regulation of intracellular estrogen receptor signaling pathway
negative regulation of transcription, DNA-templated

Function(s)

transporter activity
protein transporter activity
protein binding
calmodulin binding
protein complex binding
protein phosphatase 2A binding
armadillo repeat domain binding