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LOC110121230 VISTA enhancer hs1951 [ Homo sapiens (human) ]

Gene ID: 110121230, updated on 17-Sep-2024

Summary

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Gene symbol
LOC110121230
Gene description
VISTA enhancer hs1951
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 locus represents a conserved genomic element that can function as an enhancer. It can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic heart and somite of transgenic mice. A subregion marked by the H3K27ac and H3K4me1 histone modifications was also shown to be an active enhancer by ChIP-STARR-seq in primed human embryonic stem cells. [provided by RefSeq, Nov 2022]
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Genomic context

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See LOC110121230 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (237313177..237316630)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (237804247..237807700)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (238221820..238225273)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238126819-238127349 Neighboring gene uncharacterized LOC105373954 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:238233151-238234350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238242415-238242916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238244426-238244926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238244927-238245427 Neighboring gene collagen type VI alpha 3 chain Neighboring gene Sharpr-MPRA regulatory region 1020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238275487-238275986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238341552-238342058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238354812-238355347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238356546-238357046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238357047-238357547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238359577-238360252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238360253-238360930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17366 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:238368147-238369346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12478 Neighboring gene uncharacterized LOC105373957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238394761-238395729 Neighboring gene melanophilin

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. VISTA Enhancer Browser--a database of tissue-specific human enhancers. Visel A, et al. Nucleic Acids Res, 2007 Jan. PMID 17130149, Free PMC Article
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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)

General gene information

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Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238223873-238224473

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_053845.1 

    Range
    101..3554
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    237313177..237316630
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    237804247..237807700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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