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LOC124252632 Sharpr-MPRA regulatory region 2201 [ Homo sapiens (human) ]

Gene ID: 124252632, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124252632
Gene description
Sharpr-MPRA regulatory region 2201
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. Another subregion was validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC124252632 in Genome Data Viewer
Location:
9p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35599012..35599686)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35619674..35620348)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35599009..35599303)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RUN and SH3 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28325 Neighboring gene ciliary microtubule inner protein 2B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19865 Neighboring gene ribosomal protein S29 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19867 Neighboring gene Sharpr-MPRA regulatory region 203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35615974-35616825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28327 Neighboring gene microRNA 4667 Neighboring gene testis associated actin remodelling kinase 1 Neighboring gene uncharacterized LOC124902148 Neighboring gene CD72 molecule

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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_chr9:35599043-35599683

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_078810.2 

    Range
    101..775
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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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    35599012..35599686
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    35619674..35620348
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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