Hs00002141_cn

• Gene Symbol: NLRP7
• Assay Reference Genome Location: Chr.19:54941745 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 3 - Exon 4

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 NCR1 NLRP7
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	CDC42EP5 LILRB4 LOC102724300 GP6 EPS8L1 KIR2DL4 LILRB1 RDH13 FCAR NLRP2 KIR3DL3 LAIR2 KIR2DL3 KIR3DX1 LILRA1 MIR8061 KIR3DL1 LILRA2 NCR1 LOC101928804 PPP1R12C KIR2DL1 KIR2DS4 LILRP2 KIR3DL2 NLRP7
nsv1062047	Chr.19:54921092 - 55041328 on Build GRCh38	Gain	RDH13 NLRP2 NCR1 GP6 NLRP7
nsv428372	Chr.19:54596370 - 54954956 on Build GRCh38	Gain+Loss	LILRA1 LILRB4 MIR8061 KIR3DL1 LOC102724300 NCR1 LOC101928804 KIR2DL4 KIR2DL1 LILRB1 FCAR KIR3DL3 KIR2DS4 LILRP2 KIR2DL3 KIR3DL2 NLRP7
esv3583572	Chr.19:54937457 - 54998307 on Build GRCh38	Loss	NLRP2 NCR1 NLRP7
esv2758771	Chr.19:54163847 - 54954956 on Build GRCh38	Gain+Loss	LILRA4 CDC42EP5 LILRB3 LILRA5 LILRB4 TSEN34 MIR4752 LENG8-AS1 LOC102724300 TMC4 KIR2DL4 TTYH1 LILRB1 FCAR KIR3DL3 RPS9 LAIR2 KIR2DL3 LILRB5 KIR3DX1 LAIR1 LILRA1 MIR8061 LENG9 MBOAT7 KIR3DL1 LILRA2 NCR1 LILRA6 LOC101928804 KIR2DL1 LILRB2 KIR2DS4 LILRP2 KIR3DL2 LENG8 NLRP7
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	CDC42EP5 LILRB4 LOC102724300 GP6 EPS8L1 KIR2DL4 LILRB1 RDH13 FCAR NLRP2 KIR3DL3 LAIR2 KIR2DL3 KIR3DX1 LILRA1 MIR8061 KIR3DL1 LILRA2 NCR1 LOC101928804 PPP1R12C KIR2DL1 KIR2DS4 LILRP2 KIR3DL2 NLRP7
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	RDH13 FCAR NLRP2 NCR1 GP6 NLRP7
esv3893250	Chr.19:54906374 - 55000768 on Build GRCh38	Loss	NLRP2 NCR1 NLRP7

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