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LOC112529910 Sharpr-MPRA regulatory region 14078 [ Homo sapiens (human) ]

Gene ID: 112529910, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112529910
Gene description
Sharpr-MPRA regulatory region 14078
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 genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. Another subregion was validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC112529910 in Genome Data Viewer
Location:
17q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (37824789..37825588)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (38811761..38812560)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36184409..36185208)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene HNF1 homeobox B Neighboring gene uncharacterized LOC105371754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36083205-36083705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36090926-36091594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36091595-36092261 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36101632-36102136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36102137-36102641 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36155829-36156606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36156607-36157382 Neighboring gene uncharacterized LOC105371757 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36185958-36186705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36202981-36203480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36203816-36204316 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 7 Neighboring gene RNA, U6 small nuclear 489, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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_chr17:36184461-36185208

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_056900.2 

    Range
    101..900
    Download
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    37824789..37825588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    2063474..2064273
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    38811761..38812560
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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