Hs07160854_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54933032 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 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
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	FCAR NCR1 NLRP7
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	LILRP2 LOC102724300 KIR2DL4 FCAR GP6 LILRA1 KIR2DL1 LILRB4 KIR3DL1 KIR3DL3 PPP1R12C KIR3DL2 NLRP2 MIR8061 EPS8L1 NCR1 KIR3DX1 KIR2DS4 KIR2DL3 LOC101928804 LAIR2 LILRB1 LILRA2 RDH13 CDC42EP5 NLRP7
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	RDH13 GP6 NLRP2 NCR1 NLRP7
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	KIR2DS4 LILRP2 LOC102724300 KIR2DL3 LOC101928804 KIR2DL4 FCAR LILRA1 KIR2DL1 LILRB1 LILRB4 KIR3DL1 KIR3DL3 KIR3DL2 MIR8061 NCR1 NLRP7
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	LILRA4 LILRA5 LILRP2 LOC102724300 KIR2DL4 FCAR LILRB2 MBOAT7 TTYH1 LILRA1 KIR2DL1 LENG8 LILRB4 KIR3DL1 KIR3DL3 KIR3DL2 MIR8061 RPS9 NCR1 KIR3DX1 LILRB5 KIR2DS4 LILRA6 KIR2DL3 LOC101928804 MIR4752 LAIR1 LAIR2 LILRB1 LENG8-AS1 LILRA2 TMC4 LILRB3 TSEN34 CDC42EP5 NLRP7 LENG9
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	RDH13 FCAR GP6 NLRP2 NCR1 NLRP7
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	LILRP2 LOC102724300 KIR2DL4 FCAR GP6 LILRA1 KIR2DL1 LILRB4 KIR3DL1 KIR3DL3 PPP1R12C KIR3DL2 NLRP2 MIR8061 EPS8L1 NCR1 KIR3DX1 KIR2DS4 KIR2DL3 LOC101928804 LAIR2 LILRB1 LILRA2 RDH13 CDC42EP5 NLRP7
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NLRP2 NCR1 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