Hs00071226_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54923835 on build GRCh38
• Cytoband: 19q13.42

Target Gene Details

• Entrez Gene ID: 9437
• Gene Name: natural cytotoxicity triggering receptor 1
• Gene Aliases: CD335, LY94, NK-p46, NKP46
• Location: Chr.19:54906042-54938211 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NCR1	XM_011527530.2			XP_011525832.1

Target Gene Details

• Entrez Gene ID: 199713
• Gene Name: NLR family pyrin domain containing 7
• Gene Aliases: CLR19.4, HYDM, NALP7, NOD12, PAN7, PYPAF3
• Location: Chr.19:54923509-54965184 on Build GRCh38
• Assay Gene Location: Overlaps Intron 12 - Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NLRP7	NM_001127255.1			NP_001120727.1
	NM_139176.3			NP_631915.2
	NM_206828.3			NP_996611.2
	XM_006723075.3			XP_006723138.1
	XM_006723076.3			XP_006723139.1
	XM_011526596.2			XP_011524898.1
	XM_011526599.2			XP_011524901.1
	XM_011526601.2			XP_011524903.1
	AF464765.1			AAL69963.1
	AK298630.1
	AK302655.1
	AK313964.1
	AY154462.1			AAO18158.1
	BC109124.2			AAI09125.1
	BC109125.1			AAI09126.1
	BX363944.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	KIR3DL2 KIR3DL3 KIR2DL1 GP6 KIR3DL1 LILRB4 KIR3DX1 NCR1 LOC101928804 NLRP7 LOC102724300 MIR8061 KIR2DL4 FCAR LILRB1 KIR2DS4 LILRA1 PPP1R12C EPS8L1 NLRP2 LILRA2 LILRP2 KIR2DL3 CDC42EP5 LAIR2 RDH13
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	NLRP7 FCAR NCR1
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	NLRP7 NLRP2 GP6 NCR1 RDH13
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	KIR2DS4 KIR3DL2 KIR3DL3 KIR2DL1 LILRA1 KIR3DL1 LILRB4 NCR1 LILRP2 KIR2DL3 LOC101928804 NLRP7 LOC102724300 MIR8061 KIR2DL4 FCAR LILRB1
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	KIR3DL2 KIR3DL3 KIR2DL1 LILRB2 LENG9 LENG8-AS1 KIR3DL1 MBOAT7 LILRB4 KIR3DX1 NCR1 MIR4752 RPS9 LOC101928804 NLRP7 LOC102724300 LILRB5 MIR8061 KIR2DL4 FCAR LILRB1 LILRA6 KIR2DS4 LILRA1 TSEN34 LILRA5 LILRA2 TMC4 LAIR1 LILRA4 LILRP2 KIR2DL3 LILRB3 LENG8 CDC42EP5 LAIR2 TTYH1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	KIR3DL2 KIR3DL3 KIR2DL1 GP6 KIR3DL1 LILRB4 KIR3DX1 NCR1 LOC101928804 NLRP7 LOC102724300 MIR8061 KIR2DL4 FCAR LILRB1 KIR2DS4 LILRA1 PPP1R12C EPS8L1 NLRP2 LILRA2 LILRP2 KIR2DL3 CDC42EP5 LAIR2 RDH13
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	NLRP7 NLRP2 GP6 FCAR NCR1 RDH13
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NLRP7 NLRP2 NCR1

More Information

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

Panther Classification:

Molecular Function -

immunoglobulin receptor superfamily, non-motor microtubule binding protein

Gene Ontology Categories:

Process(es)

cellular defense response
signal transduction
natural killer cell activation
regulation of natural killer cell mediated cytotoxicity
regulation of immune response

Function(s)

receptor signaling protein activity
ATP binding