Hs00046146_cn

• Gene Symbol: NLRP7
• Assay Reference Genome Location: Chr.19:54940939 on build GRCh38
• Cytoband: 19q13.42

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 5 - Exon 5

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
	DC425389.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1056824	Chr.19:54933514 - 54976782 on Build GRCh38	Gain	NLRP2 NLRP7 NCR1
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	LILRP2 LILRA2 FCAR RDH13 MIR8061 LOC102724300 KIR2DL1 NCR1 KIR2DS4 NLRP2 KIR3DX1 EPS8L1 CDC42EP5 LILRB1 GP6 LILRA1 LILRB4 KIR3DL1 KIR3DL3 KIR2DL3 LOC101928804 LAIR2 KIR3DL2 PPP1R12C NLRP7 KIR2DL4
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	RDH13 NLRP2 GP6 NLRP7 NCR1
esv3583570	Chr.19:54937457 - 54950872 on Build GRCh38	Loss	NLRP7 NCR1
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	LILRP2 LILRB1 FCAR MIR8061 LOC102724300 KIR2DL1 LILRA1 LILRB4 KIR3DL1 KIR3DL3 NCR1 KIR2DL3 LOC101928804 KIR3DL2 KIR2DS4 NLRP7 KIR2DL4
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	LILRP2 TSEN34 LILRA2 FCAR MIR8061 LOC102724300 LENG8 KIR2DL1 TTYH1 LILRB3 LAIR1 LILRB2 LILRB5 NCR1 LILRA5 LENG9 KIR2DS4 LENG8-AS1 TMC4 KIR3DX1 LILRA4 CDC42EP5 LILRB1 LILRA1 LILRB4 MBOAT7 MIR4752 KIR3DL1 KIR3DL3 KIR2DL3 LILRA6 LOC101928804 LAIR2 KIR3DL2 RPS9 NLRP7 KIR2DL4
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	FCAR RDH13 NLRP2 GP6 NLRP7 NCR1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	LILRP2 LILRA2 FCAR RDH13 MIR8061 LOC102724300 KIR2DL1 NCR1 KIR2DS4 NLRP2 KIR3DX1 EPS8L1 CDC42EP5 LILRB1 GP6 LILRA1 LILRB4 KIR3DL1 KIR3DL3 KIR2DL3 LOC101928804 LAIR2 KIR3DL2 PPP1R12C NLRP7 KIR2DL4
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NLRP2 NLRP7 NCR1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

non-motor microtubule binding protein

Gene Ontology Categories:

Function(s)

ATP binding