Hs00126660_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54930700 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 10 - Exon 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
nsv580339	Chr.19:54930401 - 54940537 on Build GRCh38	Loss	NCR1 NLRP7
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	NCR1 FCAR NLRP7
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	GP6 KIR2DL4 MIR8061 NLRP7 LOC101928804 KIR3DL1 KIR2DS4 EPS8L1 LILRB1 CDC42EP5 KIR2DL3 LILRA2 LILRA1 LILRB4 KIR3DL2 NLRP2 FCAR LOC102724300 LILRP2 PPP1R12C KIR2DL1 NCR1 KIR3DX1 KIR3DL3 LAIR2 RDH13
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	GP6 NCR1 NLRP2 NLRP7 RDH13
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	KIR2DL4 MIR8061 KIR3DL2 FCAR NLRP7 LOC101928804 LOC102724300 LILRP2 KIR2DL1 NCR1 KIR3DL1 KIR2DS4 LILRB1 KIR3DL3 KIR2DL3 LILRA1 LILRB4
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	LENG8 KIR2DL4 MIR8061 LILRA4 NLRP7 MBOAT7 LOC101928804 LENG8-AS1 RPS9 LAIR1 KIR3DL1 KIR2DS4 LILRB1 CDC42EP5 MIR4752 KIR2DL3 LILRA2 LILRA1 LILRB4 TTYH1 LENG9 TSEN34 LILRB2 TMC4 KIR3DL2 FCAR LILRA5 LOC102724300 LILRP2 KIR2DL1 NCR1 KIR3DX1 LILRB3 KIR3DL3 LILRB5 LAIR2 LILRA6
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	GP6 NCR1 NLRP2 FCAR NLRP7 RDH13
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	GP6 KIR2DL4 MIR8061 NLRP7 LOC101928804 KIR3DL1 KIR2DS4 EPS8L1 LILRB1 CDC42EP5 KIR2DL3 LILRA2 LILRA1 LILRB4 KIR3DL2 NLRP2 FCAR LOC102724300 LILRP2 PPP1R12C KIR2DL1 NCR1 KIR3DX1 KIR3DL3 LAIR2 RDH13
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