Hs07126145_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54929032 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 11

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