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LOC121725095 Sharpr-MPRA regulatory region 6541 [ Homo sapiens (human) ]

Gene ID: 121725095, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121725095
Gene description
Sharpr-MPRA regulatory region 6541
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. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 15:Elon, transcription elongation, stronger H3K36me3, more exonic). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121725095 in Genome Data Viewer
Location:
2p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73084381..73084675)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73097355..73097649)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73311509..73311803)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sideroflexin 5 Neighboring gene uncharacterized LOC107985897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73263753-73264638 Neighboring gene Sharpr-MPRA regulatory region 10332 Neighboring gene uncharacterized LOC105374800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73282484-73282984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73282985-73283485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73285820-73286320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73306762-73307360 Neighboring gene RAB11 family interacting protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16025 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73338684-73338927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11633 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73390968-73391162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73403343-73404016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73404017-73404690 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73421928-73422097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73430545-73431096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11636 Neighboring gene Sharpr-MPRA regulatory region 2018 Neighboring gene notochord homeobox Neighboring gene SMYD family member 5

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

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_075564.1 

    Range
    101..395
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    73084381..73084675
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    73097355..73097649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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