Hs00047756_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54933732 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 9 - Exon 10

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