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LOC124416896 Sharpr-MPRA regulatory region 2079 [ Homo sapiens (human) ]

Gene ID: 124416896, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124416896
Gene description
Sharpr-MPRA regulatory region 2079
Gene type
biological region
Feature type(s)
regulatory: silencer
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 repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive DNase matched - State 2:TssF, active promoter, flanking TSS/CpG islands). [provided by RefSeq, Feb 2022]
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Genomic context

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See LOC124416896 in Genome Data Viewer
Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102641452..102641746)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103527235..103527529)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104401209..104401503)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene SUFU negative regulator of hedgehog signaling Neighboring gene ribosomal protein L23a pseudogene 58 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104356533-104357509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104359509-104360259 Neighboring gene RNA, U6 small nuclear 43, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:104363477-104364676 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104388216-104388758 Neighboring gene Sharpr-MPRA regulatory region 14384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104391317-104392064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104392065-104392810 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2765 Neighboring gene hESC enhancers GRCh37_chr10:104402874-104403628 and GRCh37_chr10:104403629-104404384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3942 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:104405671-104405887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104408319-104409286 Neighboring gene uncharacterized LOC105378460 Neighboring gene TRIM8 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3947 Neighboring gene tripartite motif containing 8

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_079111.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    102641452..102641746
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    103527235..103527529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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Other Literature Sources
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