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

Gene ID: 109280163, updated on 10-Oct-2023

Summary

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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]
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Genomic context

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See LOC109280163 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (114263402..114266886)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (114239987..114243471)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (114701207..114704691)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369995 Neighboring gene glutamate-ammonia ligase pseudogene 5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24844 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24865 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:114601036-114602235 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:114676508-114676718 Neighboring gene Sharpr-MPRA regulatory region 11920 Neighboring gene long intergenic non-protein coding RNA 2459 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:114723717-114724462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:114739578-114740104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:114740105-114740631 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:114773645-114774145 Neighboring gene T-box transcription factor 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:114843151-114843837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:114843876-114844376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:114847097-114847637 Neighboring gene uncharacterized LOC105369998 Neighboring gene CRE16 enhancer upstream of TBX5 Neighboring gene TBX5 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:114876822-114877445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:114878069-114878691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:114878692-114879313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:114881262-114881765

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Smemo S, et al. Hum Mol Genet, 2012 Jul 15. PMID 22543974, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

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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: 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_000012.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    114239987..114243471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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