Hs07160854_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54933032 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 10

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