Hs00036743_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54934679 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 8 - Exon 9

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

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