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LOC121627929 Sharpr-MPRA regulatory region 13949 [ Homo sapiens (human) ]

Gene ID: 121627929, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121627929
Gene description
Sharpr-MPRA regulatory region 13949
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 unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121627929 in Genome Data Viewer
Location:
22q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19730626..19730920)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20107481..20107775)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19718149..19718443)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19704678-19705319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19705320-19705960 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19705962-19706132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706308-19706808 Neighboring gene SEPT5-GP1BB readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706809-19707309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19710387-19711165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19711166-19711943 Neighboring gene septin 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19713539-19714114 Neighboring gene uncharacterized LOC105372861 Neighboring gene glycoprotein Ib platelet subunit beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19730021-19730596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19730597-19731170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19734624-19735124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19744621-19745499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19745779-19746288 Neighboring gene VISTA enhancer hs515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19750215-19751157 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19758419-19758590 Neighboring gene T-box transcription factor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19764062-19764563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19771036-19771536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19771537-19772037 Neighboring gene G protein subunit beta 1 like Neighboring gene ribosomal protein L7a pseudogene 70

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_075120.1 

    Range
    101..395
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    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    19730626..19730920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20107481..20107775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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