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LOC121175338 Sharpr-MPRA regulatory region 4449 [ Homo sapiens (human) ]

Gene ID: 121175338, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121175338
Gene description
Sharpr-MPRA regulatory region 4449
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 DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Apr 2021]
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Genomic context

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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (26180809..26181103)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (26316487..26316781)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (26220429..26220723)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25776 Neighboring gene microRNA 148a Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:26050032-26050705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25777 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:26140958-26141128 Neighboring gene uncharacterized LOC105375198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25778 Neighboring gene MPRA-validated peak6446 silencer Neighboring gene MPRA-validated peak6447 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:26187424-26188096 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:26188097-26188769 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:26191778-26192572 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr7:26192573-26193366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:26197976-26198476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:26198477-26198977 Neighboring gene Sharpr-MPRA regulatory region 12991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25783 Neighboring gene NFE2 like bZIP transcription factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25785 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:26227891-26228415 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:26238808-26239781 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:26239782-26240754 Neighboring gene heterogeneous nuclear ribonucleoprotein A2/B1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18035 Neighboring gene chromobox 3

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_074270.1 

    Range
    101..395
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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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    26180809..26181103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    26316487..26316781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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