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LOC121175351 Sharpr-MPRA regulatory region 13100 [ Homo sapiens (human) ]

Gene ID: 121175351, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121175351
Gene description
Sharpr-MPRA regulatory region 13100
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 matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Apr 2021]
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Genomic context

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See LOC121175351 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98255337..98255631)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99486039..99486333)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (97884649..97884943)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97761703-97762203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26304 Neighboring gene lemur tyrosine kinase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97792559-97793068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97793069-97793577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97794853-97795370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97795371-97795886 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:97822203-97822367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97859339-97859992 Neighboring gene MPRA-validated peak6653 silencer Neighboring gene basic helix-loop-helix family member a15 Neighboring gene tectonin beta-propeller repeat containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97870078-97870980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97881191-97881934 Neighboring gene uncharacterized LOC124901706 Neighboring gene uncharacterized LOC124901705 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97909829-97910813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97915383-97916095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97916808-97917520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26307 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:97925226-97925340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97925951-97926452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97935156-97935656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97935657-97936157 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:97942170-97942317 Neighboring gene brain protein I3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97946925-97947425

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 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_074283.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    98255337..98255631
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    99486039..99486333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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