Hs00516627_cn

• Gene Symbol: PANO1
• Assay Reference Genome Location: Chr.11:799206 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 101927423
• Gene Name: proapoptotic nucleolar protein 1
• Gene Aliases: PANO
• Location: Chr.11:797511-799185 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PANO1	NM_001293167.1			NP_001280096.1
	AB430851.1

Target Gene Details

• Entrez Gene ID: 55367
• Gene Name: p53-induced death domain protein 1
• Gene Aliases: LRDD, PIDD
• Location: Chr.11:799179-809504 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIDD1	NM_145886.3			NP_665893.2
	NM_145887.3			NP_665894.2
	XM_005253005.4			XP_005253062.1
	XM_005253006.4			XP_005253063.1
	XM_005253007.3			XP_005253064.1
	XM_005253008.4			XP_005253065.1
	XM_011520209.2			XP_011518511.1
	XM_011520210.2			XP_011518512.1
	XM_011520211.2			XP_011518513.1
	XM_011520212.1			XP_011518514.1
	XM_011520213.2			XP_011518515.1
	XM_017017993.1			XP_016873482.1
	AB208832.1			BAD92069.1
	AB208949.1			BAD92186.1
	AB209529.1			BAD92766.1
	AF229178.1			AAF69491.1
	AF465246.1			AAP97716.1
	AK074893.1			BAC11272.1
	AL833849.1			CAD38708.1
	BC014904.1			AAH14904.1
	BQ214414.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv552871	Chr.11:766479 - 870446 on Build GRCh38	Loss	PNPLA2 SLC25A22 PDDC1 CHID1 PIDD1 CEND1 CRACR2B POLR2L SNORA52 PANO1 TSPAN4 CD151 RPLP2 LOC171391
nsv469923	Chr.11:378188 - 1302334 on Build GRCh38	Loss	SLC25A22 PDDC1 CHID1 PIDD1 MIR210HG CEND1 IRF7 SNORA52 TMEM80 PANO1 LRRC56 MIR210 MUC2 DRD4 CD151 LOC101059906 EPS8L2 RPLP2 PNPLA2 CDHR5 HRAS ANO9 RNH1 B4GALNT4 MUC6 SCT CRACR2B POLR2L TSPAN4 PTDSS2 MIR6744 LMNTD2 DEAF1 SIGIRR LOC171391 RASSF7 LOC101927503 MUC5B LOC143666 MUC5AC PHRF1 TOLLIP PKP3 TALDO1 AP2A2
dgv1013n100	Chr.11:772982 - 933569 on Build GRCh38	Gain	PNPLA2 SLC25A22 PDDC1 CHID1 PIDD1 CEND1 CRACR2B POLR2L SNORA52 PANO1 TSPAN4 CD151 RPLP2 LOC171391 AP2A2
esv2759794	Chr.11:409846 - 1336162 on Build GRCh38	Loss	SLC25A22 PDDC1 CHID1 PIDD1 MIR210HG CEND1 IRF7 SNORA52 TMEM80 PANO1 LRRC56 MIR210 MUC2 DRD4 CD151 LOC101059906 EPS8L2 RPLP2 PNPLA2 CDHR5 HRAS ANO9 RNH1 MUC6 TOLLIP-AS1 SCT CRACR2B POLR2L TSPAN4 PTDSS2 MIR6744 LMNTD2 DEAF1 SIGIRR LOC171391 RASSF7 LOC101927503 MUC5B LOC143666 MUC5AC PHRF1 TOLLIP TALDO1 AP2A2
nsv1040044	Chr.11:776335 - 900929 on Build GRCh38	Gain+Loss	PNPLA2 SLC25A22 PDDC1 CHID1 PIDD1 CEND1 CRACR2B POLR2L SNORA52 PANO1 TSPAN4 CD151 RPLP2 LOC171391
nsv552870	Chr.11:743813 - 810882 on Build GRCh38	Loss	RPLP2 SLC25A22 PDDC1 LOC171391 PIDD1 CEND1 PANO1 TALDO1
dgv182e199	Chr.11:349830 - 943372 on Build GRCh38	Deletion	SLC25A22 PDDC1 CHID1 PIDD1 MIR210HG CEND1 IRF7 SNORA52 TMEM80 PANO1 LRRC56 MIR210 DRD4 CD151 LOC101059906 EPS8L2 RPLP2 PNPLA2 CDHR5 HRAS ANO9 RNH1 B4GALNT4 SCT CRACR2B POLR2L TSPAN4 PTDSS2 LMNTD2 DEAF1 SIGIRR LOC171391 RASSF7 LOC143666 PHRF1 PKP3 TALDO1 AP2A2
nsv8759	Chr.11:775539 - 835248 on Build GRCh38	Gain	PNPLA2 CD151 RPLP2 SLC25A22 PDDC1 LOC171391 PIDD1 CEND1 CRACR2B SNORA52 PANO1
nsv1159791	Chr.11:461793 - 909492 on Build GRCh38	Deletion	SLC25A22 PDDC1 CHID1 PIDD1 MIR210HG CEND1 IRF7 SNORA52 TMEM80 PANO1 LRRC56 MIR210 DRD4 CD151 LOC101059906 EPS8L2 RPLP2 PNPLA2 CDHR5 HRAS RNH1 SCT CRACR2B POLR2L TSPAN4 PTDSS2 LMNTD2 DEAF1 LOC171391 RASSF7 LOC143666 PHRF1 TALDO1
nsv951272	Chr.11:751201 - 911500 on Build GRCh38	Deletion	PNPLA2 SLC25A22 PDDC1 CHID1 PIDD1 CEND1 CRACR2B POLR2L SNORA52 PANO1 TSPAN4 CD151 RPLP2 LOC171391 TALDO1

More Information

Additional Information:

For this assay, SNP(s) [rs113383631] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

apoptotic process
regulation of protein stability
negative regulation of proteasomal ubiquitin-dependent protein catabolic process
positive regulation of apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
cellular response to DNA damage stimulus
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
signal transduction
regulation of apoptotic process
negative regulation of apoptotic process
positive regulation of NF-kappaB transcription factor activity
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors

Function(s)

death receptor binding
protein binding