Hs07138176_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54929745 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 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
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	LILRA2 LILRP2 NCR1 KIR2DL4 LOC102724300 NLRP7 FCAR KIR2DL3 KIR3DL1 MIR8061 LAIR2 KIR3DX1 KIR3DL3 EPS8L1 GP6 PPP1R12C CDC42EP5 KIR2DL1 NLRP2 LILRA1 LILRB4 RDH13 LOC101928804 KIR2DS4 KIR3DL2 LILRB1
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	NCR1 NLRP7 FCAR
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	NCR1 GP6 NLRP7 RDH13 NLRP2
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	LILRP2 NCR1 KIR2DL4 LOC102724300 NLRP7 FCAR KIR2DL3 KIR3DL1 KIR2DL1 LILRA1 MIR8061 LILRB4 LOC101928804 KIR2DS4 KIR3DL2 LILRB1 KIR3DL3
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	LILRA2 LILRP2 NCR1 LILRA5 KIR2DL4 LOC102724300 NLRP7 FCAR KIR2DL3 KIR3DL1 TMC4 LILRA4 LILRA6 MIR8061 LENG8-AS1 LENG9 LAIR2 LILRB3 LAIR1 KIR3DX1 KIR3DL3 LENG8 LILRB5 CDC42EP5 RPS9 LILRB2 TTYH1 KIR2DL1 LILRA1 MBOAT7 LILRB4 TSEN34 LOC101928804 KIR2DS4 KIR3DL2 LILRB1 MIR4752
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	LILRA2 LILRP2 NCR1 KIR2DL4 LOC102724300 NLRP7 FCAR KIR2DL3 KIR3DL1 MIR8061 LAIR2 KIR3DX1 KIR3DL3 EPS8L1 GP6 PPP1R12C CDC42EP5 KIR2DL1 NLRP2 LILRA1 LILRB4 RDH13 LOC101928804 KIR2DS4 KIR3DL2 LILRB1
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	NCR1 GP6 NLRP7 RDH13 FCAR NLRP2
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NCR1 NLRP7 NLRP2

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