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LOC121175362 Sharpr-MPRA regulatory region 6449 [ Homo sapiens (human) ]

Gene ID: 121175362, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121175362
Gene description
Sharpr-MPRA regulatory region 6449
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 22:ReprW). [provided by RefSeq, Apr 2021]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (116577035..116577329)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (117892128..117892422)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116217089..116217383)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26534 Neighboring gene Sharpr-MPRA regulatory region 9016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18558 Neighboring gene caveolin 2 Neighboring gene Sharpr-MPRA regulatory region 15503 Neighboring gene caveolin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18559 Neighboring gene greater CFTR locus negative regulatory element NR2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26536 Neighboring gene cytosolic oncogenic antisense to MET transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26537 Neighboring gene MPRA-validated peak6696 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116273493-116274692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18562 Neighboring gene greater CFTR locus negative regulatory element CR3 Neighboring gene greater CFTR locus negative regulatory element CR5 Neighboring gene MET proto-oncogene, receptor tyrosine kinase Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:116363882-116365081 Neighboring gene uncharacterized LOC124901824 Neighboring gene greater CFTR locus negative regulatory element CR6 Neighboring gene greater CFTR locus negative regulatory element CR8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:116412324-116413523 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116416081-116417280 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:116420832-116421760 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:116421761-116422688 Neighboring gene uncharacterized LOC124901731

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_074294.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    116577035..116577329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    117892128..117892422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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