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 BRCA... See more...

Aliases for LOC110485084 Gene

Aliases for LOC110485084 Gene

  • BRCA1 Intronic Recombination Region 3
  • BRCA1, DNA Repair Associated Intronic Recombination Region 3

External Ids for LOC110485084 Gene

Summaries for LOC110485084 Gene

Entrez Gene Summary for LOC110485084 Gene

  • 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]

GeneCards Summary for LOC110485084 Gene

LOC110485084 (BRCA1 Intronic Recombination Region) is a Biological Region gene. Diseases associated with LOC110485084 include Breast-Ovarian Cancer, Familial 1.

Additional gene information for LOC110485084 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC110485084 Gene

Genomics for LOC110485084 Gene

Genomic Locations for LOC110485084 Gene

Genomic Locations for LOC110485084 Gene
chr17:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110485084 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110485084 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110485084 Gene

Proteins for LOC110485084 Gene

Post-translational modifications for LOC110485084 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110485084 Gene

Domains & Families for LOC110485084 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110485084 Gene

Function for LOC110485084 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC110485084 Gene

Localization for LOC110485084 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC110485084 Gene

Pathways & Interactions for LOC110485084 Gene

PathCards logo

SuperPathways for LOC110485084 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110485084 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110485084 Gene

Drugs & Compounds for LOC110485084 Gene

No Compound Related Data Available

Transcripts for LOC110485084 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110485084 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110485084 Gene

Expression for LOC110485084 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC110485084 Gene

Orthologs for LOC110485084 Gene

No data available for Orthologs and Evolution for LOC110485084 Gene

Paralogs for LOC110485084 Gene

No data available for Paralogs for LOC110485084 Gene

Variants for LOC110485084 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC110485084 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs116806238 Benign: Breast-ovarian cancer, familial 1 43,120,293( ) G/C INTRON_VARIANT
rs532039683 Benign: Breast-ovarian cancer, familial 1 43,119,949( ) A/G INTRON_VARIANT
rs543267121 Likely Benign: Hereditary cancer-predisposing syndrome 43,119,764( ) T/A INTRON_VARIANT
rs869312508 Likely Benign: Hereditary cancer-predisposing syndrome 43,120,174( ) G/C INTRON_VARIANT
rs869312510 Likely Benign: Hereditary cancer-predisposing syndrome 43,119,897( ) C/T INTRON_VARIANT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110485084 Gene

Disorders for LOC110485084 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC110485084 Gene - From: GeneCards

Disorder Aliases PubMed IDs
breast-ovarian cancer, familial 1
  • breast-ovarian cancer, familial, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC110485084: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110485084 Gene

Publications for LOC110485084 Gene

  1. Occurrence of a non deleterious gene conversion event in the BRCA1 gene. (PMID: 26171949) Tessereau C … Mazoyer S (Genes, chromosomes & cancer 2015) 3 54
  2. Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene. (PMID: 20135348) Ticha I … Pohlreich P (Breast cancer research and treatment 2010) 3 54
  3. Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality. (PMID: 19405878) van den Ouweland AM … Nederlof PM (Genetic testing and molecular biomarkers 2009) 3 54
  4. MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases. (PMID: 18431737) Engert S … Meindl A (Human mutation 2008) 3 54
  5. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. (PMID: 17561994) Vasickova P … Foretova L (BMC medical genetics 2007) 3 54

No data available for Mastermind for LOC110485084 Gene

Products for LOC110485084 Gene

Sources for LOC110485084 Gene