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	NLRP7 NCR1
nsv1056824	Chr.19:54933514 - 54976782 on Build GRCh38	Gain	NLRP7 NLRP2 NCR1
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	FCAR LOC101928804 KIR2DL1 PPP1R12C LILRA1 LOC102724300 RDH13 GP6 NLRP2 KIR3DL1 NLRP7 KIR2DL3 LAIR2 EPS8L1 NCR1 KIR3DL2 LILRP2 LILRA2 KIR3DL3 KIR2DL4 MIR8061 KIR3DX1 KIR2DS4 LILRB4 CDC42EP5 LILRB1
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	FCAR NLRP7 NCR1
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	NLRP7 RDH13 GP6 NLRP2 NCR1
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	FCAR LOC101928804 KIR2DL1 NLRP7 KIR2DL3 NCR1 KIR3DL2 LILRA1 LILRP2 KIR3DL3 KIR2DL4 LOC102724300 MIR8061 KIR2DS4 LILRB4 KIR3DL1 LILRB1
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	FCAR LOC101928804 KIR2DL1 MIR4752 LENG9 LAIR1 LILRA1 LILRA6 LOC102724300 MBOAT7 TSEN34 LILRB3 TTYH1 LILRB5 KIR3DL1 NLRP7 LILRA5 KIR2DL3 LAIR2 NCR1 LENG8-AS1 KIR3DL2 LENG8 LILRP2 LILRA2 KIR3DL3 KIR2DL4 RPS9 LILRB2 MIR8061 KIR3DX1 TMC4 KIR2DS4 LILRB4 CDC42EP5 LILRB1 LILRA4
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	FCAR LOC101928804 KIR2DL1 PPP1R12C LILRA1 LOC102724300 RDH13 GP6 NLRP2 KIR3DL1 NLRP7 KIR2DL3 LAIR2 EPS8L1 NCR1 KIR3DL2 LILRP2 LILRA2 KIR3DL3 KIR2DL4 MIR8061 KIR3DX1 KIR2DS4 LILRB4 CDC42EP5 LILRB1
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	FCAR NLRP7 RDH13 GP6 NLRP2 NCR1
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NLRP7 NLRP2 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