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LOC110485084 BRCA1 intronic recombination region [ Homo sapiens (human) ]

Gene ID: 110485084, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110485084
Gene description
BRCA1 intronic recombination region
Gene type
biological region
Feature type(s)
misc_recomb: non_allelic_homologous
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region can undergo non-allelic homologous recombination (NAHR) with another region sharing high sequence similarity, the BCRA1P1 intergenic recombination region, which is located about 37 kb centromere-distal to this region on the reference genome. This region is found within an intron of the BRCA1, DNA repair associated (BRCA1) gene, and NAHR with the region near the BRCA1P1 gene can result in a deletion of the intervening sequence. Gene conversion events between the two regions have also been observed. Deletions from recombination between the two regions results in a chimeric gene with two exons from the BRCA1 pseudogene in place of the BRCA1 exons, and loss of the BRCA1 promoter region, causing loss of gene expression. This deletion is associated with hereditary forms of breast and ovarian cancers. The region represented here is composed of multiple sub-regions, named a-d, which have been identified as either NAHR exchange or gene conversion sites in different individuals. [provided by RefSeq, Jun 2017]
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Genomic context

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Location:
17q21.31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43119629..43120300)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43978257..43978928)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41271646..41272317)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8675 Neighboring gene Rho family GTPase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41195058-41195600 Neighboring gene BRCA1 DNA repair associated Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:41214996-41215531 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:41224055-41224260 Neighboring gene ribosomal protein L21 pseudogene 4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 Neighboring gene BRCA1 intron 2 regulatory region Neighboring gene BRCA1 promoter region Neighboring gene neighbor of BRCA1 lncRNA 2 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:41298599-41299208 Neighboring gene uncharacterized LOC101929767 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 29 Neighboring gene BRCA1P1 intergenic recombination region Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41311429-41311959 Neighboring gene uncharacterized LOC124900391 Neighboring gene BRCA1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality. van den Ouweland AM, et al. Genet Test Mol Biomarkers, 2009 Jun. PMID 19405878
  2. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. Walsh T, et al. JAMA, 2006 Mar 22. PMID 16551709
  3. Genomic rearrangements in the BRCA1 and BRCA2 genes. Mazoyer S. Hum Mutat, 2005 May. PMID 15832305
  4. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Montagna M, et al. Hum Mol Genet, 2003 May 1. PMID 12700174
  5. Occurrence of a non deleterious gene conversion event in the BRCA1 gene. Tessereau C, et al. Genes Chromosomes Cancer, 2015 Oct. PMID 26171949

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • BRCA1, DNA repair associated intronic recombination region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_055423.1 

    Range
    101..772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    43119629..43120300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43978257..43978928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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