Hs02989797_cn

• Gene Symbol: PDXDC1
• Assay Reference Genome Location: Chr.16:15060499 on build GRCh38
• Cytoband: 16p13.11

Target Gene Details

• Entrez Gene ID: 23042
• Gene Name: pyridoxal dependent decarboxylase domain containing 1
• Gene Aliases: LP8165
• Location: Chr.16:14974591-15139410 on Build GRCh38
• Assay Gene Location: Within Intron 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDXDC1	NM_001285449.1			NP_001272378.1
	NM_001324020.1			NP_001310949.1
	NM_001324021.1			NP_001310950.1
	XM_017023065.1			XP_016878554.1
	AY203955.1			AAP34478.1
	BC045554.1			AAH45554.2
	CD370048.1

Target Gene Details

• Entrez Gene ID: 54700
• Gene Name: RRN3 homolog, RNA polymerase I transcription factor
• Gene Aliases: A-270G1.2, TIFIA
• Location: Chr.16:15060022-15094335 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RRN3	NM_001301064.1	17	3213	NP_001287993.1
	NM_018427.4	18	3303	NP_060897.3
	XM_005255376.1	16	3078	XP_005255433.1
	XM_005255377.4	15	3027	XP_005255434.1
	XM_011522540.2	13	2715	XP_011520842.1
	XM_011522541.1	17	3142	XP_011520843.1
	AJ272050.1	18	3223	CAC07955.1
	AK225662.1
	AL110238.1	1	457
	BC071868.1	10	2538	AAH71868.1
	BU676519.1	1	494

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4922n54	Chr.16:15025750 - 15099845 on Build GRCh38	Loss	NTAN1 PDXDC1 RRN3 LOC100505915
esv3570354	Chr.16:15034129 - 15223463 on Build GRCh38	Gain	NTAN1 PDXDC1 RRN3 MIR6511B2 MIR3180-4 LOC100505915 PKD1P6-NPIPP1
nsv1050325	Chr.16:14954899 - 15166867 on Build GRCh38	Loss	LOC728138 NTAN1 PDXDC1 RRN3 MIR6511B2 MIR3180-4 LOC100505915 PKD1P6-NPIPP1 MIR1972-1
nsv509598	Chr.16:15025400 - 15067337 on Build GRCh38	Insertion	NTAN1 PDXDC1 RRN3
nsv1038955	Chr.16:14885100 - 15322641 on Build GRCh38	Loss	NTAN1 LOC100288162 NOMO1 MIR6511A1 MIR3180-4 NPIPA1 MIR6770-1 LOC100505915 MIR1972-1 LOC728138 MIR3670-1 MIR3179-1 PDXDC1 RRN3 MIR6511B2 MIR3180-1 PKD1P6-NPIPP1
esv2758632	Chr.16:14528198 - 15272693 on Build GRCh38	Gain+Loss	LOC100288162 MIR6511A1 BFAR MIR3180-4 MIR6770-1 MIR1972-1 LOC728138 MIR3179-1 MIR6511B2 LOC105371095 MIR3180-1 NPIPA2 PKD1P6-NPIPP1 NTAN1 NPIPA3 PARN LOC100652777 PLA2G10 NOMO1 LOC105376747 NPIPA1 LOC100505915 ABCC6P2 MIR3670-1 PDXDC1 RRN3
esv2762254	Chr.16:14741210 - 15322653 on Build GRCh38	Gain+Loss	NTAN1 LOC100288162 NOMO1 MIR6511A1 MIR3180-4 LOC105376747 NPIPA1 MIR6770-1 LOC100505915 MIR1972-1 LOC728138 ABCC6P2 MIR3670-1 MIR3179-1 PDXDC1 RRN3 MIR6511B2 MIR3180-1 NPIPA2 PKD1P6-NPIPP1
dgv2755n100	Chr.16:14877546 - 15434384 on Build GRCh38	Gain	NTAN1 LOC100288162 MPV17L NOMO1 MIR6511A1 MIR3180-4 NPIPA1 MIR6770-1 LOC100505915 MIR1972-1 LOC728138 MIR3670-1 MIR3179-1 PDXDC1 RRN3 NPIPA5 MIR6511B2 MIR3180-1 PKD1P6-NPIPP1
esv3892796	Chr.16:14961008 - 15074903 on Build GRCh38	Loss	LOC728138 NTAN1 PDXDC1 RRN3 MIR1972-1
esv3638021	Chr.16:15031082 - 15082591 on Build GRCh38	Gain	NTAN1 PDXDC1 RRN3
nsv1036298	Chr.16:15031584 - 15222857 on Build GRCh38	Gain	NTAN1 PDXDC1 RRN3 MIR6511B2 MIR3180-4 LOC100505915 PKD1P6-NPIPP1

More Information

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

Panther Classification:

Molecular Function -

general transcription factor

Gene Ontology Categories:

Process(es)

carboxylic acid metabolic process
cell-cell adhesion
in utero embryonic development
transcription initiation from RNA polymerase I promoter
nucleolus organization
cytoplasm organization
cell proliferation
positive regulation of neuron projection development
ribosome biogenesis
positive regulation of transcription, DNA-templated
homeostasis of number of cells
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator
regulation of DNA-templated transcription, initiation

Function(s)

carboxy-lyase activity
pyridoxal phosphate binding
cadherin binding involved in cell-cell adhesion
RNA polymerase I CORE element sequence-specific DNA binding
RNA polymerase binding