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

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