Hs01280486_cn

• Gene Symbol: AAAS
• Assay Reference Genome Location: Chr.12:53308966 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 8086
• Gene Name: aladin WD repeat nucleoporin
• Gene Aliases: AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003
• Location: Chr.12:53307456-53321628 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AAAS	NM_001173466.1			NP_001166937.1
	NM_015665.5			NP_056480.1
	XM_011538778.1			XP_011537080.1
	XM_011538780.1			XP_011537082.1
	AF226048.1			AAF86948.1
	AJ289857.1			CAC19017.1
	AK000833.1			BAA91394.1
	AK094302.1
	AK222509.1			BAD96229.1
	AK293342.1
	AL110160.1			CAB53665.2
	AY237818.1			AAP69911.1
	BC000659.2			AAH00659.1
	BT006912.1			AAP35558.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv517066	Chr.12:53006394 - 53340722 on Build GRCh38	Loss	TNS2 RARG EIF4B C12orf10 IGFBP6 SP7 SPRYD3 LOC283335 PFDN5 ZNF740 MFSD5 CSAD MIR6757 ESPL1 SOAT2 AAAS ITGB7

More Information

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

Gene Ontology Categories:

Process(es)

mRNA export from nucleus
tRNA export from nucleus
nucleocytoplasmic transport
mitotic nuclear envelope disassembly
learning
fertilization
regulation of glucose transport
protein transport
viral process
protein sumoylation
viral transcription
gene silencing by RNA
regulation of nucleocytoplasmic transport
intracellular transport of virus
regulation of cellular response to heat

Function(s)

molecular_function