NIPBL
Overview
NIPBL (NIPBL, Cohesin Loading Factor) encodes a cohesin-loading factor essential for loading the cohesin ring complex onto chromatin. It is a key component of the sister chromatid cohesion and segregation (SCCS) pathway. Germline mutations in NIPBL cause Cornelia de Lange syndrome. In cancer, NIPBL has been identified as somatically mutated in bladder cancer, contributing to the high burden of SCCS pathway alterations in that tumor type.
Alterations observed in the corpus
- Somatic mutation in 4% of TCC bladder cancers (UCGC cohort, n=99); part of the cohesin loader/subunit alteration set (NIPBL, SMC1A, SMC3) contributing to 32% of tumors harboring SCCS pathway alterations PMID:24121792
- Cohesin complex gene mutated/altered in 16% of LGG/GBM; nominated as a therapeutic vulnerability (PARP/DNA-damage agents) PMID:26824661
- Listed among genes with alterations in the acral melanoma (ALM) integrated genomic analysis cohort (34 patients; WGS + RNA-seq + SNP array) PMID:28373299
Cancer types (linked)
- BLCA — somatic mutation in 4% of TCC; part of the SCCS pathway alteration landscape PMID:24121792
Co-occurrence and mutual exclusivity
- Co-altered with other cohesin complex members (STAG2, SMC1A, SMC3) in TCC; combined SCCS pathway alterations in 32% of tumors PMID:24121792
Therapeutic relevance
- No direct therapeutic data currently in corpus; SCCS pathway dependency may represent a therapeutic vulnerability.
Open questions
- Mechanism by which NIPBL somatic mutation contributes to TCC pathogenesis is undefined.
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:26824661
This page was processed by wiki-cli on 2026-05-14. - PMID:28373299
This page was processed by wiki-cli on 2026-05-14.