{
"@context": "/terms/",
"@id": "/genes/ENSG00000104320/",
"@type": [
"Gene",
"Item"
],
"audit": {},
"collections": [
"ACMG73",
"GREGoR"
],
"creation_timestamp": "2023-04-20T00:03:30.521478+00:00",
"dbxrefs": [
"ENTREZ:4683",
"HGNC:7652"
],
"geneid": "ENSG00000104320",
"geneid_with_version": "ENSG00000104320.15",
"locations": [
{
"assembly": "GRCh38",
"chromosome": "chr8",
"end": 90003228,
"start": 89924515
}
],
"name": "nibrin",
"release_timestamp": "2024-08-30T04:54:04.497367+00:00",
"schema_version": "9",
"status": "released",
"study_sets": [
"SGE-Starita"
],
"submitted_by": {
"@id": "/users/98fb23d3-0d79-4c3d-981d-01539e6589f1/",
"title": "Idan Gabdank"
},
"summary": "NBN - ENSG00000104320 (Homo sapiens)",
"symbol": "NBN",
"synonyms": [
"nibrin",
"cell cycle regulatory protein p95",
"p95 protein of the MRE11/RAD50 complex",
"P95",
"ATV",
"Nijmegen breakage syndrome 1 (nibrin)",
"AT-V1",
"NBS1",
"NBS",
"AT-V2"
],
"taxa": "Homo sapiens",
"title": "NBN (Homo sapiens)",
"transcriptome_annotation": "GENCODE 43",
"uuid": "81334650-3355-4a2d-9b93-6b22241d5e71",
"version_number": "15"
}