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LOC121132708 Sharpr-MPRA regulatory region 8531 [ Homo sapiens (human) ]

Gene ID: 121132708, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121132708
Gene description
Sharpr-MPRA regulatory region 8531
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 DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 21:Repr, strong Polycomb repression). [provided by RefSeq, Apr 2021]
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Genomic context

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Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138593212..138593506)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (139781743..139782037)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (138914349..138914643)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138725096-138725616 Neighboring gene MARCKS like 1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138751321-138751822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138751823-138752322 Neighboring gene heme binding protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:138762212-138762399 Neighboring gene NHS like 1 Neighboring gene microRNA 3145 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138807227-138807846 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90625 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90641 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:138893284-138894040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138897819-138898319 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:138912362-138912862 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:138912863-138913363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25159 Neighboring gene MTCH1 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:139012200-139013399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17598 Neighboring gene collagen alpha-1(III) chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17600 Neighboring gene NHSL1 antisense RNA 1

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_074250.1 

    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
    138593212..138593506
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    139781743..139782037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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