Hs07150545_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54926269 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	CDC42EP5 MIR8061 EPS8L1 NCR1 LOC102724300 LOC101928804 FCAR KIR3DL2 NLRP7 LILRP2 KIR2DL4 RDH13 KIR2DS4 LAIR2 KIR2DL1 PPP1R12C LILRB1 KIR2DL3 KIR3DX1 KIR3DL3 GP6 NLRP2 LILRA2 KIR3DL1 LILRB4 LILRA1
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	GP6 NLRP2 NLRP7 RDH13 NCR1
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	MIR8061 KIR2DL1 NCR1 LILRB1 LOC102724300 KIR2DL3 LOC101928804 KIR3DL3 FCAR KIR3DL2 NLRP7 LILRP2 KIR3DL1 KIR2DL4 KIR2DS4 LILRB4 LILRA1
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	CDC42EP5 MIR8061 RPS9 NCR1 LOC102724300 LILRA6 TTYH1 LOC101928804 FCAR KIR3DL2 NLRP7 MBOAT7 LILRP2 KIR2DL4 KIR2DS4 LILRB2 LENG8-AS1 LILRA5 LAIR2 KIR2DL1 LILRB1 KIR2DL3 LENG9 KIR3DX1 KIR3DL3 LILRA2 TSEN34 LENG8 TMC4 LILRA4 KIR3DL1 MIR4752 LILRB5 LAIR1 LILRB3 LILRB4 LILRA1
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	GP6 FCAR NLRP2 NLRP7 RDH13 NCR1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	CDC42EP5 MIR8061 EPS8L1 NCR1 LOC102724300 LOC101928804 FCAR KIR3DL2 NLRP7 LILRP2 KIR2DL4 RDH13 KIR2DS4 LAIR2 KIR2DL1 PPP1R12C LILRB1 KIR2DL3 KIR3DX1 KIR3DL3 GP6 NLRP2 LILRA2 KIR3DL1 LILRB4 LILRA1
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