Hs03020100_cn

• Gene Symbol: NBN
• Assay Reference Genome Location: Chr.8:89934289 on build GRCh38
• Cytoband: 8q21.3

Target Gene Details

• Entrez Gene ID: 4683
• Gene Name: nibrin
• Gene Aliases: AT-V1, AT-V2, ATV, NBS, NBS1, P95
• Location: Chr.8:89933336-89984733 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NBN	NM_001024688.2	17	3771	NP_001019859.1
	NM_002485.4	16	3668	NP_002476.2
	XM_011517045.1	17	3601	XP_011515347.1
	XM_017013460.1	18	3752	XP_016868949.1
	XM_017013461.1	15	3491	XP_016868950.1
	XM_017013462.1	16	3676	XP_016868951.1
	AF051334.1	16	3609	AAC39732.1
	AF058696.2	16	3610	AAC39752.1
	BC146797.1	16	3620
	BX640816.1	17	3719	CAH56160.1

More Information

• Set Membership: Intragenic, Exonic, non-DGV Variation

Panther Classification:

Molecular Function -

damaged DNA-binding protein

Gene Ontology Categories:

Process(es)

DNA damage checkpoint
telomere maintenance
double-strand break repair via homologous recombination
DNA double-strand break processing
DNA synthesis involved in DNA repair
strand displacement
blastocyst growth
DNA replication
double-strand break repair
double-strand break repair via nonhomologous end joining
cell cycle arrest
mitotic cell cycle checkpoint
mitotic G2 DNA damage checkpoint
cell proliferation
regulation of DNA-dependent DNA replication initiation
DNA damage response, signal transduction by p53 class mediator
telomeric 3' overhang formation
positive regulation of protein autophosphorylation
positive regulation of telomere maintenance
DNA duplex unwinding
positive regulation of kinase activity
isotype switching
neuromuscular process controlling balance
meiotic cell cycle
intrinsic apoptotic signaling pathway
regulation of signal transduction by p53 class mediator
negative regulation of telomere capping

Function(s)

damaged DNA binding
ATP-dependent DNA helicase activity
protein binding
transcription factor binding
protein N-terminus binding