Hs01190216_cn

• Gene Symbol: CDKN1B
• Assay Reference Genome Location: Chr.12:12721614 on build GRCh38
• Cytoband: 12p13.1

Target Gene Details

• Entrez Gene ID: 1027
• Gene Name: cyclin dependent kinase inhibitor 1B
• Gene Aliases: CDKN4, KIP1, MEN1B, MEN4, P27KIP1
• Location: Chr.12:12717270-12722383 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CDKN1B	NM_004064.4	3	1754	NP_004055.1
	AK298335.1	4	1273
	AY004255.1	3	1336	AAF88142.1
	BC001971.1	3	1561	AAH01971.1
	CN311141.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2745567	Chr.12:12246086 - 13092998 on Build GRCh38	Deletion	HTR7P1 RPL13AP20 GPRC5A DUSP16 LOC100506314 FAM234B GPR19 MIR614 MANSC1 HEBP1 LRP6 CREBL2 BORCS5 GSG1 GPRC5D LOH12CR2 DDX47 APOLD1 LOC105369662 MIR613 CDKN1B
nsv1046355	Chr.12:11501836 - 12890185 on Build GRCh38	Loss	RPL13AP20 LOC100506248 DUSP16 MIR1244-4 ETV6 GPR19 MANSC1 LRP6 CREBL2 BORCS5 LOH12CR2 DDX47 APOLD1 LOC105369662 MIR613 BCL2L14 CDKN1B LINC01252

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

kinase inhibitor

Gene Ontology Categories:

Process(es)

regulation of cyclin-dependent protein serine/threonine kinase activity
G1/S transition of mitotic cell cycle
response to hypoxia
potassium ion transport
activation of cysteine-type endopeptidase activity involved in apoptotic process
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
cell cycle arrest
Notch signaling pathway
sensory perception of sound
positive regulation of cell proliferation
negative regulation of cell proliferation
response to glucose
positive regulation of cell death
negative regulation of cell growth
positive regulation of microtubule polymerization
response to estradiol
negative regulation of kinase activity
negative regulation of phosphorylation
response to drug
negative regulation of apoptotic process
response to amino acid
response to peptide hormone
positive regulation of protein catabolic process
negative regulation of cyclin-dependent protein serine/threonine kinase activity
positive regulation of cyclin-dependent protein serine/threonine kinase activity
positive regulation of cell cycle
negative regulation of transcription, DNA-templated
negative regulation of mitotic cell cycle
response to cadmium ion
autophagic cell death
inner ear development
negative regulation of cellular component movement
negative regulation of epithelial cell proliferation involved in prostate gland development
cellular response to antibiotic
cellular response to lithium ion
cellular response to organic cyclic compound
mitotic cell cycle arrest
negative regulation of vascular smooth muscle cell proliferation

Function(s)

cyclin-dependent protein serine/threonine kinase inhibitor activity
transforming growth factor beta receptor, cytoplasmic mediator activity
protein binding
cysteine-type endopeptidase activator activity involved in apoptotic process
protein phosphatase binding
Hsp70 protein binding
protein complex binding
chaperone binding