Hs01719789_cn

• Gene Symbol: PTTG1IP
• Assay Reference Genome Location: Chr.21:44851402 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 754
• Gene Name: pituitary tumor-transforming 1 interacting protein
• Gene Aliases: C21orf1, C21orf3, PBF
• Location: Chr.21:44849585-44873903 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTTG1IP	NM_001286822.1	3	681	NP_001273751.1
	NM_004339.3	6	1009	NP_004330.1
	NR_104597.1	5	900
	AF149785.1	6	947	AAF73770.1
	AK094882.1	7	714
	AK095586.1	1	1309
	AK290139.1	6	759
	AK293318.1	3	410
	AK298557.1	3	469
	AK299204.1	4	568
	BC000415.2	6	766	AAH00415.1
	BC012858.1	6	792	AAH12858.1
	BC019295.1	6	756	AAH19295.1
	BC020983.1	6	773	AAH20983.1
	BC031097.1	6	787	AAH31097.1
	BC034250.1	6	781	AAH34250.1
	CN295711.1
	L48984.1	3	407
	Z50022.1	6	815	CAA90325.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1058550	Chr.21:44807248 - 44898019 on Build GRCh38	Loss	ITGB2 SUMO3 PTTG1IP
esv3647136	Chr.21:44802580 - 44905193 on Build GRCh38	Loss	ITGB2 SUMO3 PTTG1IP LINC01424
nsv587813	Chr.21:44771532 - 44858053 on Build GRCh38	Loss	UBE2G2 SUMO3 PTTG1IP LINC01424

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein import into nucleus
positive regulation of protein ubiquitination
negative regulation of DNA damage response, signal transduction by p53 class mediator
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator
positive regulation of cellular protein catabolic process

Function(s)

p53 binding
molecular_function
protein binding