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LOC121740642 Sharpr-MPRA regulatory region 12646 [ Homo sapiens (human) ]

Gene ID: 121740642, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121740642
Gene description
Sharpr-MPRA regulatory region 12646
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 16:ElonW, transcriptional elongation, weaker H3K36) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 6:EnhF, candidate strong enhancer, flanking open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13471917..13472211)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13345436..13345730)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (13472149..13472443)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901261 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13328608-13329114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16927 Neighboring gene uncharacterized LOC105374936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16928 Neighboring gene Gfo/Idh/MocA-like oxidoreductase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16929 Neighboring gene MPRA-validated peak5665 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24025 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:13422205-13422994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13461923-13462595 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:13462671-13463323 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:13463324-13463975 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:13466168-13467367 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:13479720-13480919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24032 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:13487020-13487183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24034 Neighboring gene GFOD1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24035 Neighboring gene ribosomal protein S4X pseudogene 7

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_075704.1 

    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
    13471917..13472211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    13345436..13345730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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