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LOC124188218 Sharpr-MPRA regulatory region 1385 [ Homo sapiens (human) ]

Gene ID: 124188218, updated on 12-Sep-2024

Summary

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Gene symbol
LOC124188218
Gene description
Sharpr-MPRA regulatory region 1385
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 non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Feb 2022]
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Genomic context

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See LOC124188218 in Genome Data Viewer
Location:
8q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123310729..123311023)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124441866..124442160)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124322969..124323263)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ZHX1-C8orf76 readthrough Neighboring gene small nucleolar RNA U13 Neighboring gene zinc fingers and homeoboxes 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:124285783-124286150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27871 Neighboring gene hydroxysteroid 17-beta dehydrogenase 4 pseudogene Neighboring gene ATPase family AAA domain containing 2 Neighboring gene RNA, U6 small nuclear 875, pseudogene Neighboring gene microRNA 548aa-1 Neighboring gene microRNA 548d-1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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_078625.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    123310729..123311023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    124441866..124442160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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