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