Hs00481503_cn

• Gene Symbol: NAGPA
• Assay Reference Genome Location: Chr.16:5027988 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 51172
• Gene Name: N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
• Gene Aliases: APAA, UCE
• Location: Chr.16:5024844-5033941 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NAGPA	NM_016256.3			NP_057340.2
	XM_011522517.2			XP_011520819.1
	AF052111.1
	AF187072.1			AAF08273.1
	AK025570.1
	AK026122.1
	AK092889.1
	AK127952.1
	AK314320.1
	BC012194.1			AAH12194.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1042612	Chr.16:4965694 - 5150514 on Build GRCh38	Loss	SEC14L5 NAGPA-AS1 ALG1 EEF2KMT NAGPA C16orf89
esv3892762	Chr.16:4967386 - 5060625 on Build GRCh38	Gain	SEC14L5 NAGPA-AS1 NAGPA C16orf89
nsv428318	Chr.16:5011594 - 5374828 on Build GRCh38	Gain	SEC14L5 NAGPA-AS1 ALG1 RBFOX1 EEF2KMT NAGPA C16orf89
esv25186	Chr.16:4858500 - 5142800 on Build GRCh38	Gain	SEC14L5 NAGPA-AS1 PPL ALG1 EEF2KMT NAGPA UBN1 C16orf89
esv3637713	Chr.16:4957958 - 5307305 on Build GRCh38	Gain	SEC14L5 NAGPA-AS1 ALG1 RBFOX1 EEF2KMT NAGPA C16orf89
esv3637714	Chr.16:4958035 - 5079276 on Build GRCh38	Gain	SEC14L5 NAGPA-AS1 ALG1 NAGPA C16orf89
esv2422516	Chr.16:4775920 - 5160979 on Build GRCh38	Deletion	SEC14L5 NAGPA-AS1 PPL ALG1 SMIM22 EEF2KMT NAGPA UBN1 ROGDI C16orf89 GLYR1 SEPT12
nsv1046986	Chr.16:4049000 - 5555721 on Build GRCh38	Gain	PPL VASN SMIM22 ADCY9 MIR6769A SEC14L5 SRL GLIS2-AS1 CORO7-PAM16 NUDT16L1 TFAP4 UBN1 MGRN1 C16orf89 GLYR1 PAM16 LINC01569 DNAJA3 ALG1 UBALD1 C16orf71 ANKS3 LOC105371063 ROGDI C16orf96 CDIP1 SEPT12 NAGPA-AS1 HMOX2 RBFOX1 NMRAL1 EEF2KMT NAGPA GLIS2 ZNF500 CORO7
esv34300	Chr.16:5005938 - 5322534 on Build GRCh38	Gain	SEC14L5 NAGPA-AS1 ALG1 RBFOX1 EEF2KMT NAGPA C16orf89
nsv1038475	Chr.16:5004985 - 5310633 on Build GRCh38	Gain	SEC14L5 NAGPA-AS1 ALG1 RBFOX1 EEF2KMT NAGPA C16orf89
esv2760069	Chr.16:4922849 - 5374828 on Build GRCh38	Gain+Loss	SEC14L5 NAGPA-AS1 PPL ALG1 RBFOX1 EEF2KMT NAGPA C16orf89
nsv571303	Chr.16:4960912 - 5284683 on Build GRCh38	Loss	SEC14L5 NAGPA-AS1 ALG1 RBFOX1 EEF2KMT NAGPA C16orf89
nsv817715	Chr.16:5006294 - 5309352 on Build GRCh38	Gain	SEC14L5 NAGPA-AS1 ALG1 RBFOX1 EEF2KMT NAGPA C16orf89
nsv1039432	Chr.16:5013335 - 5074451 on Build GRCh38	Loss	SEC14L5 NAGPA-AS1 ALG1 NAGPA C16orf89

More Information

Additional Information:

For this assay, SNP(s) [rs116864149] 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

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
cellular protein modification process
protein glycosylation
protein targeting to lysosome
lysosome organization

Function(s)

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity
protein binding