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LOC121144500 Sharpr-MPRA regulatory region 12216 [ Homo sapiens (human) ]

Gene ID: 121144500, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121144500
Gene description
Sharpr-MPRA regulatory region 12216
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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See LOC121144500 in Genome Data Viewer
Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2195434..2195728)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2309035..2309329)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2235069..2235363)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene mitotic arrest deficient 1 like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2143023-2143689 Neighboring gene Sharpr-MPRA regulatory region 12408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2145023-2145690 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:2149574-2150773 Neighboring gene uncharacterized LOC105375127 Neighboring gene small nucleolar RNA, H/ACA box 114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2163326-2163826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2167782-2168380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2168381-2168978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2168979-2169576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2179597-2180202 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2187008-2187194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2197373-2198322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2198323-2199271 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2205752-2205962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2207917-2208590 Neighboring gene uncharacterized LOC105375126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2242330-2243304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2248383-2248916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17863 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2272476-2272854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2273433-2273965 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:2276450-2277649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2280373-2281224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17864 Neighboring gene mitochondrial rRNA methyltransferase 2

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_074264.1 

    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
    2195434..2195728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    2309035..2309329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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