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LOC121852938 Sharpr-MPRA regulatory region 671 [ Homo sapiens (human) ]

Gene ID: 121852938, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121852938
Gene description
Sharpr-MPRA regulatory region 671
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 HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49022447..49022741)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49885798..49886092)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47099809..47100103)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47041863-47042412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47043544-47044044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47044045-47044545 Neighboring gene gastric inhibitory polypeptide Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8665 Neighboring gene uncharacterized LOC124904020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47081123-47081644 Neighboring gene insulin like growth factor 2 mRNA binding protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47089629-47090182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47090183-47090738 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47091293-47091848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47092958-47093511 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47110305-47110846 Neighboring gene RNA, U6 small nuclear 826, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47126439-47127348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47135543-47136044 Neighboring gene NANOG hESC enhancer GRCh37_chr17:47163998-47164523 Neighboring gene B4GALNT2 pseudogene 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_076045.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    49022447..49022741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    49885798..49886092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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