Hs07150545_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54926269 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 Intron 12

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