NBN
Information NBN
- Description
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
- Full Name
nibrin
Source NCBI
- Species
Homo sapiens [tax_id: 9606]
- Genome
hg38
ReMap Statistics
- Datasets
- 5
- Biotypes
- 5
- Peaks
- 92,248
- Non-redundant peaks
- 81,082
TF Classification
- Super Class
- NA
- Class
- NA
- Familly
- NA
- Sub Familly
- NA
Source TFClass
External IDs
- NCBI Gene
- 4683
- Official Gene Name
- NBN
- JASPAR
- Ensembl
- ENSG00000104320
- UniProt
- O60934
- Genevisible
- O60934
- RefSeq
- NM_001024688
- Aliases
- AT-V1; AT-V2; ATV; NBS; NBS1; P95
Datasets Table for NBN
| Target name | Target modification | Ecotype/Strain | Biotype | Biotype modification | Source | Species | Experiment | Peaks |
|---|---|---|---|---|---|---|---|---|
| NBN | MCF-10A | GEO | Homo sapiens | GSE93038 | 1,017 | |||
| NBN | MCF-7 | ENCODE | Homo sapiens | ENCSR591EBL | 302 | |||
| NBN | K-562 | ENCODE | Homo sapiens | ENCSR085QEV | 36,892 | |||
| NBN | Hep-G2 | ENCODE | Homo sapiens | ENCSR210ZYL | 2,120 | |||
| NBN | GM12878 | ENCODE | Homo sapiens | ENCSR278SQL | 51,917 | |||
| Target name | Target modification | Ecotype/Strain | Biotype | Biotype modification | Source | Species | Experiment | Peaks |