Hs00126660_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54930700 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 10 - Exon 11

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