Hs00348547_cn

• Gene Symbol: PTTG1IP
• Assay Reference Genome Location: Chr.21:44849849 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	2234	NP_001273751.1
	NM_004339.3	6	2562	NP_004330.1
	NR_104597.1	5	2453
	AF149785.1	6	2500	AAF73770.1
	AK094882.1	7	2267
	AK095586.1	1	2862
	BC000415.2	6	2319	AAH00415.1
	BC012858.1	6	2345	AAH12858.1
	BC019295.1	6	2309	AAH19295.1
	BC020983.1	6	2326	AAH20983.1
	BC031097.1	7	2290	AAH31097.1
	BC034250.1	6	2334	AAH34250.1
	CB109980.1	1	317
	L48984.1	3	1960
	Z50022.1	6	2368	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	PTTG1IP SUMO3 ITGB2
esv3647136	Chr.21:44802580 - 44905193 on Build GRCh38	Loss	PTTG1IP SUMO3 LINC01424 ITGB2
nsv587813	Chr.21:44771532 - 44858053 on Build GRCh38	Loss	PTTG1IP SUMO3 LINC01424 UBE2G2

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