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