Hs01313358_cn

• Gene Symbol: APH1B
• Assay Reference Genome Location: Chr.15:63305615 on build GRCh38
• Cytoband: 15q22.2

Target Gene Details

• Entrez Gene ID: 83464
• Gene Name: aph-1 homolog B, gamma-secretase subunit
• Gene Aliases: APH-1B, PRO1328, PSFL, TAAV688
• Location: Chr.15:63277519-63309126 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APH1B	NM_001145646.1			NP_001139118.1
	NM_031301.3			NP_112591.2
	AA808355.1
	AB189172.1			BAD95573.1
	AB197122.1			BAE02660.1
	AF508794.1			AAN63817.1
	AK291204.1
	AK307456.1
	AK307725.1
	AK310843.1
	AL136671.1			CAB66606.1
	AY358698.1			AAQ89061.1
	BC020905.1			AAH20905.1
	BI825203.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428305	Chr.15:63040203 - 63322630 on Build GRCh38	Gain	APH1B LACTB RAB8B TPM1 CA12 RPS27L
nsv1035441	Chr.15:62406037 - 63349997 on Build GRCh38	Gain	LOC101928955 APH1B TLN2 LACTB RAB8B TPM1 CA12 LOC105370854 MIR190A MGC15885 RPS27L

More Information

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

Panther Classification:

Molecular Function -

protease

Gene Ontology Categories:

Process(es)

Notch signaling pathway
Notch receptor processing
protein processing
membrane protein intracellular domain proteolysis
positive regulation of apoptotic process
positive regulation of catalytic activity
ephrin receptor signaling pathway

Function(s)

protein binding
peptidase activity