This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 ... See more...

Aliases for LOC112163653 Gene

Aliases for LOC112163653 Gene

  • Sharpr-MPRA Regulatory Region 1962 3

External Ids for LOC112163653 Gene

Summaries for LOC112163653 Gene

Entrez Gene Summary for LOC112163653 Gene

  • This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Mar 2018]

GeneCards Summary for LOC112163653 Gene

LOC112163653 (Sharpr-MPRA Regulatory Region 1962) is a Biological Region gene. Diseases associated with LOC112163653 include Breast-Ovarian Cancer, Familial 2.

Additional gene information for LOC112163653 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 LOC112163653 Gene

Genomics for LOC112163653 Gene

Genomic Locations for LOC112163653 Gene

Genomic Locations for LOC112163653 Gene
chr13:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC112163653 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC112163653 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC112163653 Gene

Proteins for LOC112163653 Gene

Post-translational modifications for LOC112163653 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC112163653 Gene

Domains & Families for LOC112163653 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC112163653 Gene

Function for LOC112163653 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 LOC112163653 Gene

Localization for LOC112163653 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 LOC112163653 Gene

Pathways & Interactions for LOC112163653 Gene

PathCards logo

SuperPathways for LOC112163653 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for LOC112163653 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC112163653 Gene

Drugs & Compounds for LOC112163653 Gene

No Compound Related Data Available

Transcripts for LOC112163653 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC112163653 Gene

No ASD Table

No data available for mRNA/cDNA for LOC112163653 Gene

Expression for LOC112163653 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 LOC112163653 Gene

Orthologs for LOC112163653 Gene

No data available for Orthologs and Evolution for LOC112163653 Gene

Paralogs for LOC112163653 Gene

No data available for Paralogs for LOC112163653 Gene

Variants for LOC112163653 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC112163653 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs144001573 Benign: Breast-ovarian cancer, familial 2 32,381,652( ) G/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 LOC112163653 Gene

Disorders for LOC112163653 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC112163653 Gene - From: GeneCards

Disorder Aliases PubMed IDs
breast-ovarian cancer, familial 2
  • breast-ovarian cancer, familial, susceptibility to, 2
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC112163653: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC112163653 Gene

Publications for LOC112163653 Gene

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. (PMID: 27701403) Ernst J … Kellis M (Nature biotechnology 2016) 3 54

No data available for Mastermind for LOC112163653 Gene

Products for LOC112163653 Gene

Sources for LOC112163653 Gene