Hs00053504_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54938095 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: Overlaps Intron 8 - Exon 9

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 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NLRP7	NM_001127255.1	5	2154	NP_001120727.1
	NM_139176.3			NP_631915.2
	NM_206828.3	5	2154	NP_996611.2
	XM_006723075.3	6	2389	XP_006723138.1
	XM_006723076.3	5	2352	XP_006723139.1
	XM_011526596.2	7	2596	XP_011524898.1
	XM_011526599.2	7	2607	XP_011524901.1
	XM_011526601.2	7	2596	XP_011524903.1
	AF464765.1	4	2124	AAL69963.1
	AK298630.1	4	1472
	AK302655.1	7	2565
	AK313964.1	7	2549
	AY154462.1	5	2148	AAO18158.1
	BC109124.2	5	2146	AAI09125.1
	BC109125.1	5	2146	AAI09126.1

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	NCR1 NLRP2 NLRP7
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	RDH13 NCR1 KIR2DL1 LAIR2 KIR2DL4 KIR3DL3 KIR3DL1 LILRB4 LILRA2 FCAR CDC42EP5 LOC101928804 LILRA1 EPS8L1 KIR2DS4 MIR8061 NLRP7 LILRB1 LILRP2 NLRP2 PPP1R12C KIR2DL3 KIR3DL2 GP6 KIR3DX1 LOC102724300
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	NCR1 FCAR NLRP7
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	RDH13 NCR1 GP6 NLRP2 NLRP7
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	LILRB1 NCR1 LILRP2 KIR2DL1 KIR2DL4 KIR3DL3 KIR3DL1 KIR2DL3 LILRB4 FCAR LOC101928804 KIR3DL2 LILRA1 KIR2DS4 MIR8061 NLRP7 LOC102724300
esv3583572	Chr.19:54937457 - 54998307 on Build GRCh38	Loss	NCR1 NLRP2 NLRP7
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	MIR4752 NCR1 LENG8 KIR2DL1 LAIR2 LILRB2 KIR2DL4 LILRA5 LENG9 KIR3DL3 MBOAT7 LILRA6 TMC4 LILRB5 KIR3DL1 LILRB4 LILRA2 FCAR TTYH1 CDC42EP5 LOC101928804 LILRA1 KIR2DS4 MIR8061 LILRB3 NLRP7 LENG8-AS1 LAIR1 LILRB1 LILRP2 TSEN34 KIR2DL3 RPS9 KIR3DL2 LILRA4 KIR3DX1 LOC102724300
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	RDH13 NCR1 KIR2DL1 LAIR2 KIR2DL4 KIR3DL3 KIR3DL1 LILRB4 LILRA2 FCAR CDC42EP5 LOC101928804 LILRA1 EPS8L1 KIR2DS4 MIR8061 NLRP7 LILRB1 LILRP2 NLRP2 PPP1R12C KIR2DL3 KIR3DL2 GP6 KIR3DX1 LOC102724300
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	RDH13 NCR1 FCAR GP6 NLRP2 NLRP7
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NCR1 NLRP2 NLRP7

More Information

• Set Membership: Intragenic, Exonic, 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