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Aliases for LOC107988033 Gene

Aliases for LOC107988033 Gene

  • Xq28 Distal FLNA-EMD Recombination Region 3

External Ids for LOC107988033 Gene

Summaries for LOC107988033 Gene

Entrez Gene Summary for LOC107988033 Gene

  • This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the Xq28 proximal FLNA-EMD recombination region, which is in reverse orientation relative to this region, and is located upstream of this region relative to the reference genome. NAHR between the repeat regions found in these recombination regions can lead to an inversion of the 48 kb intervening sequence, including the filamin A (FLNA) gene and the emerin (EMD) gene. This inversion is observed in about 20% of X chromosomes. While there is no phenotype associated with the inversion, recombination between sequences found within the inverted region has been found in some cases of Emery-Dreifuss muscular dystrophy (EDMD), resulting in a deletion of the EMD gene. There is a meiotic recombination hotspot that partially overlaps the low-copy inverted repeat. [provided by RefSeq, Jun 2016]

GeneCards Summary for LOC107988033 Gene

LOC107988033 (Xq28 Distal FLNA-EMD Recombination Region) is a Biological Region gene.

Additional gene information for LOC107988033 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC107988033 Gene

Genomics for LOC107988033 Gene

Genomic Locations for LOC107988033 Gene

Genomic Locations for LOC107988033 Gene
chrX:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC107988033 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC107988033 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC107988033 Gene

Proteins for LOC107988033 Gene

Post-translational modifications for LOC107988033 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC107988033 Gene

Domains & Families for LOC107988033 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC107988033 Gene

Function for LOC107988033 Gene

Animal Model Products

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 LOC107988033 Gene

Localization for LOC107988033 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 LOC107988033 Gene

Pathways & Interactions for LOC107988033 Gene

PathCards logo

SuperPathways for LOC107988033 Gene

No Data Available

Interacting Proteins for LOC107988033 Gene

Gene Ontology (GO) - Biological Process for LOC107988033 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC107988033 Gene

Drugs & Compounds for LOC107988033 Gene

No Compound Related Data Available

Transcripts for LOC107988033 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC107988033 Gene

No ASD Table

No data available for mRNA/cDNA for LOC107988033 Gene

Expression for LOC107988033 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 LOC107988033 Gene

Orthologs for LOC107988033 Gene

No data available for Orthologs and Evolution for LOC107988033 Gene

Paralogs for LOC107988033 Gene

No data available for Paralogs for LOC107988033 Gene

Variants for LOC107988033 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC107988033 Gene

Disorders for LOC107988033 Gene

No disorders were found for LOC107988033 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC107988033 Gene

Publications for LOC107988033 Gene

  1. Human Xq28 inversion polymorphism: From sex linkage to Genomics--A genetic mother lode. (PMID: 26956943) Kirby CS … Merritt R (Biochemistry and molecular biology education : a bimonthly publication of the International Union of Biochemistry and Molecular Biology 2016) 3 58
  2. DNA recombination. Recombination initiation maps of individual human genomes. (PMID: 25395542) Pratto F … Camerini-Otero RD (Science (New York, N.Y.) 2014) 3 58
  3. A recurrent inversion on the eutherian X chromosome. (PMID: 18003915) Cáceres M … Thomas JW (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 58
  4. Emerin deletions occurring on both Xq28 inversion backgrounds. (PMID: 9384614) Small K … Warren ST (Human molecular genetics 1998) 3 58
  5. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. (PMID: 9140403) Small K … Warren ST (Nature genetics 1997) 3 58

No data available for External Links for LOC107988033 Gene

Products for LOC107988033 Gene

Sources for LOC107988033 Gene

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