Format

Send to:

Choose Destination

LOC109280163 CRE9 enhancer downstream of TBX5 [ Homo sapiens (human) ]

Gene ID: 109280163, updated on 23-Nov-2021

Summary

Gene symbol
LOC109280163
Gene description
CRE9 enhancer downstream of TBX5
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region represents an enhancer element that drives expression of a reporter transgene in the heart. This enhancer may regulate expression of the T-box 5 gene, located approximately 140 kb upstream. A patient with congenital heart disease carried a homozygous single nucleotide variant in this enhancer that affected activity of this sequence. [provided by RefSeq, Dec 2016]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See LOC109280163 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (114263402..114266886)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (114701207..114704691)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11920 Neighboring gene long intergenic non-protein coding RNA 2459 Neighboring gene T-box transcription factor 5 Neighboring gene uncharacterized LOC105369998 Neighboring gene CRE16 enhancer upstream of TBX5 Neighboring gene TBX5 antisense RNA 1

Genomic regions, transcripts, and products

NCBI Reference Sequences (RefSeq)

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_052565.1 

    Range
    101..3585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    114263402..114266886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center