Hs07126145_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54929032 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	FCAR KIR3DL1 LOC102724300 EPS8L1 LILRB4 NLRP2 KIR3DL3 RDH13 KIR2DL1 MIR8061 NLRP7 LAIR2 KIR3DX1 LILRA1 CDC42EP5 LILRB1 KIR2DS4 KIR2DL3 KIR3DL2 NCR1 LILRP2 LOC101928804 LILRA2 KIR2DL4 GP6 PPP1R12C
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	FCAR NLRP7 NCR1
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	NLRP2 RDH13 NLRP7 NCR1 GP6
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	FCAR KIR3DL1 LILRB1 LOC102724300 KIR2DS4 KIR2DL3 KIR3DL2 NCR1 LILRB4 LILRP2 KIR3DL3 LOC101928804 KIR2DL1 MIR8061 KIR2DL4 NLRP7 LILRA1
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	FCAR KIR3DL1 LOC102724300 TTYH1 TSEN34 LENG8-AS1 LILRB3 LENG9 LILRA4 LILRB4 KIR3DL3 KIR2DL1 LILRA5 LILRB5 MIR8061 NLRP7 LAIR2 KIR3DX1 LENG8 LILRA1 CDC42EP5 MBOAT7 MIR4752 LILRB1 LAIR1 KIR2DS4 LILRB2 KIR2DL3 KIR3DL2 LILRA6 TMC4 NCR1 RPS9 LILRP2 LOC101928804 LILRA2 KIR2DL4
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	FCAR KIR3DL1 LOC102724300 EPS8L1 LILRB4 NLRP2 KIR3DL3 RDH13 KIR2DL1 MIR8061 NLRP7 LAIR2 KIR3DX1 LILRA1 CDC42EP5 LILRB1 KIR2DS4 KIR2DL3 KIR3DL2 NCR1 LILRP2 LOC101928804 LILRA2 KIR2DL4 GP6 PPP1R12C
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	FCAR NLRP2 RDH13 NLRP7 NCR1 GP6
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NLRP2 NLRP7 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