Hs00049020_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54934514 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 9 - 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
	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	NLRP7 NCR1
nsv1056824	Chr.19:54933514 - 54976782 on Build GRCh38	Gain	NLRP7 NCR1 NLRP2
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	PPP1R12C EPS8L1 LAIR2 KIR3DL3 LOC102724300 GP6 KIR2DL1 KIR2DL3 NCR1 LILRB1 FCAR CDC42EP5 KIR3DL1 LILRA1 MIR8061 NLRP7 KIR3DL2 KIR3DX1 RDH13 LILRB4 LILRA2 LILRP2 KIR2DL4 NLRP2 KIR2DS4 LOC101928804
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	NLRP7 FCAR NCR1
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	NLRP7 RDH13 NCR1 NLRP2 GP6
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	FCAR KIR3DL3 KIR3DL1 LILRA1 LOC102724300 KIR2DL1 MIR8061 NLRP7 KIR3DL2 LILRB4 KIR2DL3 LILRP2 KIR2DL4 NCR1 KIR2DS4 LILRB1 LOC101928804
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	LAIR2 KIR3DL3 TSEN34 LOC102724300 LILRB5 KIR2DL1 KIR2DL3 TTYH1 NCR1 LENG9 LILRB1 LENG8 LILRA5 FCAR MIR4752 LILRB2 LILRB3 CDC42EP5 KIR3DL1 LILRA1 MBOAT7 TMC4 LILRA4 LENG8-AS1 MIR8061 NLRP7 KIR3DL2 KIR3DX1 LILRB4 LILRA2 LILRP2 KIR2DL4 KIR2DS4 LAIR1 LILRA6 LOC101928804 RPS9
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	PPP1R12C EPS8L1 LAIR2 KIR3DL3 LOC102724300 GP6 KIR2DL1 KIR2DL3 NCR1 LILRB1 FCAR CDC42EP5 KIR3DL1 LILRA1 MIR8061 NLRP7 KIR3DL2 KIR3DX1 RDH13 LILRB4 LILRA2 LILRP2 KIR2DL4 NLRP2 KIR2DS4 LOC101928804
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	NLRP7 FCAR RDH13 NCR1 NLRP2 GP6
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NLRP7 NCR1 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