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LOC121740723 Sharpr-MPRA regulatory region 4389 [ Homo sapiens (human) ]

Gene ID: 121740723, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121740723
Gene description
Sharpr-MPRA regulatory region 4389
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, Jun 2021]
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Genomic context

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Location:
8q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (101090901..101091195)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (102216678..102216972)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (102103129..102103423)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC401471 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:102038939-102040138 Neighboring gene STAT1 regulated ILF2 complex interacting lncRNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:102109675-102110204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:102110205-102110732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:102120910-102121840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:102121841-102122769 Neighboring gene long intergenic non-protein coding RNA 3044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:102138473-102138995 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:102138996-102139519 Neighboring gene long intergenic non-protein coding RNA 3090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:102149216-102149811 Neighboring gene RN7SK pseudogene 249

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_075785.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    101090901..101091195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    102216678..102216972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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