Hs02133608_cn

• Gene Symbol: PTTG1IP
• Assay Reference Genome Location: Chr.21:44850489 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	1594	NP_001273751.1
	NM_004339.3	6	1922	NP_004330.1
	NR_104597.1	5	1813
	AF149785.1	6	1860	AAF73770.1
	AK094882.1	7	1627
	AK095586.1	1	2222
	BC000415.2	6	1679	AAH00415.1
	BC012858.1	6	1705	AAH12858.1
	BC019295.1	6	1669	AAH19295.1
	BC020983.1	6	1686	AAH20983.1
	BC031097.1	7	1650	AAH31097.1
	BC034250.1	6	1694	AAH34250.1
	L48984.1	3	1320
	Z50022.1	6	1728	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	LINC01424 ITGB2 SUMO3 PTTG1IP
nsv587813	Chr.21:44771532 - 44858053 on Build GRCh38	Loss	LINC01424 UBE2G2 SUMO3 PTTG1IP

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