U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC110485085 BRCA1P1 intergenic recombination region [ Homo sapiens (human) ]

Gene ID: 110485085, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC110485085
Gene description
BRCA1P1 intergenic 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, the BRCA1 intronic recombination region, which is located about 37 kb centromere-proximal to this region on the reference genome. This region is found near a pseudogene of BRCA1, BRCA1P1, and shares high sequence identity to part of an intron within the BRCA1, DNA repair associated (BRCA1) gene. NAHR with the BRCA1 intronic recombination region 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]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
17q21.31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43156563..43157234)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44015314..44015985)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41308580..41309251)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRCA1 DNA repair associated Neighboring gene ribosomal protein L21 pseudogene 4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 Neighboring gene BRCA1 intronic recombination region 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41311429-41311959 Neighboring gene uncharacterized LOC124900391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12239 Neighboring gene BRCA1 pseudogene 1 Neighboring gene NBR1 autophagy cargo receptor

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_055424.1 

    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
    43156563..43157234
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44015314..44015985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases