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LOC110120883 VISTA enhancer hs492 [ Homo sapiens (human) ]

Gene ID: 110120883, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110120883
Gene description
VISTA enhancer hs492
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 includes a conserved genomic element that can function as an enhancer. The major subregion can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic cranial nerve and hindbrain of transgenic mice. An overlapping subregion marked by the H3K4me1 histone modification 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 LOC110120883 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38045896..38046872)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38507517..38508493)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38442140..38442879)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA polymerase II, I and III subunit F Neighboring gene MPRA-validated peak4487 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38378831-38379668 Neighboring gene SRY-box transcription factor 10 Neighboring gene VISTA enhancer hs564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38392633-38393194 Neighboring gene microRNA 4534 Neighboring gene VISTA enhancer hs486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38424434-38424934 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:38427029-38428228 Neighboring gene VISTA enhancer hs491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38438297-38438796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38446442-38446942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38446943-38447443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38452863-38453488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38453489-38454112 Neighboring gene protein interacting with PRKCA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38470967-38471468 Neighboring gene uncharacterized LOC105373027 Neighboring gene solute carrier family 16 member 8

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

  • H3K4me1 hESC enhancer GRCh37_chr22:38441903-38442404

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_053506.2 

    Range
    101..1077
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    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    38045896..38046872
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    38507517..38508493
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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