Hs04458709_cn

• Gene Symbol: NTAN1
• Assay Reference Genome Location: Chr.16:15043603 on build GRCh38
• Cytoband: 16p13.11

Target Gene Details

• Entrez Gene ID: 123803
• Gene Name: N-terminal asparagine amidase
• Gene Aliases: PNAA, PNAD
• Location: Chr.16:15037853-15056079 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NTAN1	NM_001270766.1			NP_001257695.1
	NM_001270767.1			NP_001257696.1
	NM_173474.3			NP_775745.1
	XM_011522355.2			XP_011520657.1
	AF092440.1			AAP97215.1
	AK092915.1
	BC017336.2			AAH17336.1
	BF939373.1
	DC383993.1

Target Gene Details

• Entrez Gene ID: 23042
• Gene Name: pyridoxal dependent decarboxylase domain containing 1
• Gene Aliases: LP8165
• Location: Chr.16:14974591-15139410 on Build GRCh38
• Assay Gene Location: Within Intron 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDXDC1	NM_001285449.1			NP_001272378.1
	NM_001324020.1			NP_001310949.1
	NM_001324021.1			NP_001310950.1
	XM_017023065.1			XP_016878554.1
	AY203955.1			AAP34478.1
	BC045554.1			AAH45554.2
	CD370048.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3638023	Chr.16:15031773 - 15047500 on Build GRCh38	Gain	PDXDC1 NTAN1
dgv4922n54	Chr.16:15025750 - 15099845 on Build GRCh38	Loss	LOC100505915 RRN3 PDXDC1 NTAN1
esv3570354	Chr.16:15034129 - 15223463 on Build GRCh38	Gain	PKD1P6-NPIPP1 LOC100505915 MIR6511B2 RRN3 PDXDC1 NTAN1 MIR3180-4
nsv1050325	Chr.16:14954899 - 15166867 on Build GRCh38	Loss	PKD1P6-NPIPP1 MIR1972-1 LOC100505915 MIR6511B2 RRN3 PDXDC1 NTAN1 LOC728138 MIR3180-4
nsv509598	Chr.16:15025400 - 15067337 on Build GRCh38	Insertion	RRN3 PDXDC1 NTAN1
nsv1038955	Chr.16:14885100 - 15322641 on Build GRCh38	Loss	MIR1972-1 MIR6511A1 MIR3670-1 MIR6511B2 NPIPA1 PDXDC1 MIR3180-4 MIR6770-1 PKD1P6-NPIPP1 MIR3179-1 LOC100505915 RRN3 NOMO1 MIR3180-1 NTAN1 LOC728138 LOC100288162
esv2758632	Chr.16:14528198 - 15272693 on Build GRCh38	Gain+Loss	MIR1972-1 MIR6511A1 BFAR NPIPA1 MIR3180-4 MIR6770-1 PKD1P6-NPIPP1 MIR3179-1 LOC105376747 PLA2G10 MIR3180-1 NTAN1 LOC728138 LOC100288162 MIR3670-1 MIR6511B2 PDXDC1 PARN ABCC6P2 LOC100652777 LOC105371095 LOC100505915 RRN3 NOMO1 NPIPA3 NPIPA2
esv2762254	Chr.16:14741210 - 15322653 on Build GRCh38	Gain+Loss	MIR1972-1 MIR6511A1 MIR3670-1 MIR6511B2 NPIPA1 PDXDC1 MIR3180-4 MIR6770-1 PKD1P6-NPIPP1 MIR3179-1 LOC105376747 ABCC6P2 LOC100505915 RRN3 NOMO1 MIR3180-1 NTAN1 LOC728138 LOC100288162 NPIPA2
dgv2755n100	Chr.16:14877546 - 15434384 on Build GRCh38	Gain	MIR1972-1 MIR6511A1 MIR3670-1 MIR6511B2 NPIPA5 NPIPA1 PDXDC1 MIR3180-4 MIR6770-1 PKD1P6-NPIPP1 MIR3179-1 MPV17L LOC100505915 RRN3 NOMO1 MIR3180-1 NTAN1 LOC728138 LOC100288162
esv3892796	Chr.16:14961008 - 15074903 on Build GRCh38	Loss	MIR1972-1 RRN3 PDXDC1 NTAN1 LOC728138
esv3638021	Chr.16:15031082 - 15082591 on Build GRCh38	Gain	RRN3 PDXDC1 NTAN1
nsv1036298	Chr.16:15031584 - 15222857 on Build GRCh38	Gain	PKD1P6-NPIPP1 LOC100505915 MIR6511B2 RRN3 PDXDC1 NTAN1 MIR3180-4

More Information

Additional Information:

For this assay, SNP(s) [rs79638963] 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 -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

memory
adult locomotory behavior
carboxylic acid metabolic process
cell-cell adhesion

Function(s)

protein-N-terminal asparagine amidohydrolase activity
carboxy-lyase activity
pyridoxal phosphate binding
cadherin binding involved in cell-cell adhesion