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LOC111946239 Sharpr-MPRA regulatory region 8316 [ Homo sapiens (human) ]

Gene ID: 111946239, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111946239
Gene description
Sharpr-MPRA regulatory region 8316
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 DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). [provided by RefSeq, Feb 2018]
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Genomic context

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See LOC111946239 in Genome Data Viewer
Location:
10q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (44978781..44979075)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (45859745..45860039)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (45474229..45474523)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene TMEM72 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:45413376-45413557 Neighboring gene transmembrane protein 72 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45427808-45428515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45428516-45429222 Neighboring gene Sharpr-MPRA regulatory region 7362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3314 Neighboring gene Sharpr-MPRA regulatory region 11970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3318 Neighboring gene Sharpr-MPRA regulatory region 2327 Neighboring gene uncharacterized LOC105378281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45467973-45468635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45468636-45469297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45470934-45471637 Neighboring gene Ras association domain family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45475153-45475856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45475857-45476558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45479350-45479850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45486450-45487141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45487171-45487672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45487673-45488172 Neighboring gene uncharacterized LOC124902530 Neighboring gene DEPP autophagy regulator 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:45496487-45496987 Neighboring gene ZNF22 antisense RNA 1 Neighboring gene zinc finger protein 22

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_056328.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    44978781..44979075
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    45859745..45860039
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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