Hs02259551_cn

• Gene Symbol: APBB1
• Assay Reference Genome Location: Chr.11:6395947 on build GRCh38
• Cytoband: 11p15.4

Target Gene Details

• Entrez Gene ID: 322
• Gene Name: amyloid beta precursor protein binding family B member 1
• Gene Aliases: FE65, MGC:9072, RIR
• Location: Chr.11:6395124-6419830 on Build GRCh38
• Assay Gene Location: Overlaps Intron 15 - Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APBB1	NM_001164.4			NP_001155.1
	NM_001257319.2			NP_001244248.1
	NM_001257320.2			NP_001244249.1
	NM_001257321.2			NP_001244250.1
	NM_001257323.2			NP_001244252.1
	NM_001257325.2			NP_001244254.1
	NM_001257326.2			NP_001244255.1
	NM_145689.2			NP_663722.1
	NR_047512.2
	XM_006718209.3			XP_006718272.2
	XM_006718210.3			XP_006718273.2
	XM_006718211.1			XP_006718274.1
	XM_006718212.3			XP_006718275.2
	XM_006718213.1			XP_006718276.1
	XM_006718214.3			XP_006718277.2
	XM_006718215.3			XP_006718278.3
	XM_011520037.2			XP_011518339.1
	XM_011520038.2			XP_011518340.1
	XM_011520040.2			XP_011518342.1
	XM_011520042.1			XP_011518344.1
	XM_017017639.1			XP_016873128.1
	XM_017017640.1			XP_016873129.1
	XM_017017641.1			XP_016873130.1
	XM_017017642.1			XP_016873131.1
	AF394214.1			AAL79526.1
	AK098207.1	2	1677
	AK293452.1
	AK293550.1
	AK293554.1
	AK293613.1
	AK293643.1
	AK293711.1
	AK295241.1
	AK295425.1
	AK297544.1
	AK297550.1
	AK315965.1
	BC010854.2			AAH10854.1
	BX538185.1			CAD98057.1
	EF103274.2
	L77864.1			AAB93631.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv553371	Chr.11:6374460 - 6413235 on Build GRCh38	Loss	SMPD1 APBB1

More Information

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

Gene Ontology Categories:

Process(es)

double-strand break repair
transcription, DNA-templated
regulation of transcription, DNA-templated
apoptotic process
cellular response to DNA damage stimulus
cell cycle arrest
signal transduction
axonogenesis
response to iron ion
positive regulation of neuron projection development
negative regulation of cell growth
positive regulation of apoptotic process
histone H4 acetylation
positive regulation of DNA repair
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
positive regulation of protein secretion
negative regulation of thymidylate synthase biosynthetic process

Function(s)

beta-amyloid binding
chromatin binding
protein binding
transcription factor binding
protein complex binding
histone binding
tau protein binding
proline-rich region binding