Hs00124956_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54936412 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: Overlaps Intron 7 - Exon 8

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

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

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