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