Hs07131562_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54925277 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: Within Intron 12

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