Hs07139799_cn

• Gene Symbol: NCR1
• Assay Reference Genome Location: Chr.19:54932551 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
nsv520644	Chr.19:54889804 - 54940429 on Build GRCh38	Loss	NCR1 FCAR NLRP7
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	EPS8L1 KIR2DL4 LILRB4 LOC102724300 NCR1 LILRP2 PPP1R12C KIR2DS4 KIR2DL3 MIR8061 LILRB1 KIR2DL1 KIR3DL2 GP6 LILRA1 LAIR2 KIR3DX1 FCAR LOC101928804 KIR3DL1 CDC42EP5 RDH13 NLRP2 LILRA2 KIR3DL3 NLRP7
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	RDH13 NLRP2 GP6 NCR1 NLRP7
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	LILRB1 KIR2DL4 LILRB4 KIR2DL1 LOC102724300 KIR3DL2 NCR1 LILRA1 LILRP2 FCAR KIR2DS4 LOC101928804 KIR3DL1 KIR2DL3 KIR3DL3 MIR8061 NLRP7
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	LAIR1 KIR2DL4 LILRA6 LENG8 LILRB4 LOC102724300 NCR1 TMC4 LILRA5 LILRP2 TTYH1 KIR2DS4 LENG8-AS1 RPS9 KIR2DL3 MBOAT7 TSEN34 LILRB3 MIR8061 LILRB1 MIR4752 LILRB2 KIR2DL1 KIR3DL2 LILRA4 LILRA1 LILRB5 LAIR2 KIR3DX1 FCAR LENG9 LOC101928804 KIR3DL1 CDC42EP5 LILRA2 KIR3DL3 NLRP7
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	RDH13 NLRP2 GP6 NCR1 FCAR NLRP7
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	EPS8L1 KIR2DL4 LILRB4 LOC102724300 NCR1 LILRP2 PPP1R12C KIR2DS4 KIR2DL3 MIR8061 LILRB1 KIR2DL1 KIR3DL2 GP6 LILRA1 LAIR2 KIR3DX1 FCAR LOC101928804 KIR3DL1 CDC42EP5 RDH13 NLRP2 LILRA2 KIR3DL3 NLRP7
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NLRP2 NCR1 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