Hs00048145_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54934601 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 Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NLRP7	NM_001127255.1	7	2435	NP_001120727.1
	NM_139176.3	7	2351	NP_631915.2
	NM_206828.3	7	2435	NP_996611.2
	XM_006723075.3	8	2670	XP_006723138.1
	XM_006723076.3	7	2633	XP_006723139.1
	XM_011526596.2	9	2877	XP_011524898.1
	XM_011526599.2	9	2888	XP_011524901.1
	XM_011526601.2	9	2877	XP_011524903.1
	AF464765.1	6	2405	AAL69963.1
	AK298630.1	6	1753
	AK302655.1	9	2846
	AK313964.1	9	2830
	AY154462.1	7	2429	AAO18158.1
	BC109124.2	7	2427	AAI09125.1
	BC109125.1	7	2427	AAI09126.1
	BX363944.1	5	964

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv580339	Chr.19:54930401 - 54940537 on Build GRCh38	Loss	NCR1 NLRP7
nsv1056824	Chr.19:54933514 - 54976782 on Build GRCh38	Gain	NLRP2 NCR1 NLRP7
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	NCR1 FCAR NLRP7
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	KIR2DL1 KIR3DL3 FCAR LOC102724300 LILRP2 LILRA1 LAIR2 LOC101928804 KIR3DL1 KIR2DS4 CDC42EP5 EPS8L1 MIR8061 NLRP2 KIR3DX1 PPP1R12C KIR2DL4 RDH13 GP6 NCR1 KIR3DL2 LILRB1 KIR2DL3 LILRA2 LILRB4 NLRP7
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	NLRP2 GP6 NCR1 NLRP7 RDH13
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	KIR2DL1 KIR3DL3 FCAR LOC102724300 KIR2DL4 LILRP2 LILRA1 NCR1 LOC101928804 KIR3DL2 KIR3DL1 KIR2DS4 LILRB1 KIR2DL3 MIR8061 LILRB4 NLRP7
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	KIR2DL1 KIR3DL3 LENG8 FCAR LILRB5 LOC102724300 LILRP2 LILRA1 LILRB2 LAIR2 LOC101928804 LILRA6 KIR3DL1 KIR2DS4 CDC42EP5 MIR4752 MIR8061 TMC4 MBOAT7 LENG8-AS1 KIR3DX1 RPS9 KIR2DL4 LILRA4 NCR1 KIR3DL2 TTYH1 LILRB3 LILRB1 KIR2DL3 LENG9 TSEN34 LILRA2 LAIR1 LILRB4 NLRP7 LILRA5
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	NLRP2 GP6 NCR1 FCAR NLRP7 RDH13
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	KIR2DL1 KIR3DL3 FCAR LOC102724300 LILRP2 LILRA1 LAIR2 LOC101928804 KIR3DL1 KIR2DS4 CDC42EP5 EPS8L1 MIR8061 NLRP2 KIR3DX1 PPP1R12C KIR2DL4 RDH13 GP6 NCR1 KIR3DL2 LILRB1 KIR2DL3 LILRA2 LILRB4 NLRP7
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NLRP2 NCR1 NLRP7

More Information

• Set Membership: Intragenic, Exonic, 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