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LOC121132698 Sharpr-MPRA regulatory region 4618 [ Homo sapiens (human) ]

Gene ID: 121132698, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121132698
Gene description
Sharpr-MPRA regulatory region 4618
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 LOC121132698 in Genome Data Viewer
Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (86683531..86683825)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (87892241..87892535)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (87393249..87393543)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SUZ RNA binding domain containing 1 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 643, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:87291002-87292201 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:87307995-87308547 Neighboring gene MPRA-validated peak5941 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:87380117-87380640 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:87433363-87434562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:87441389-87441888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:87440887-87441388 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:87497596-87498795 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:87607342-87607842 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:87607843-87608343 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:87647030-87647585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:87647586-87648140 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:87679014-87680213 Neighboring gene 5-hydroxytryptamine receptor 1E Neighboring gene ribosomal protein L7 pseudogene 29 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 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_074240.1 

    Range
    101..395
    Download
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    86683531..86683825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    87892241..87892535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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