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LOC112695100 Sharpr-MPRA regulatory region 9885 [ Homo sapiens (human) ]

Gene ID: 112695100, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112695100
Gene description
Sharpr-MPRA regulatory region 9885
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 DNase matched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42520703..42520997)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43001685..43001979)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42916709..42917003)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42900600-42901233 Neighboring gene serine hydrolase like (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42904339-42905038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42905039-42905737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42909821-42910364 Neighboring gene ribosomal RNA processing 7 homolog A Neighboring gene uncharacterized LOC124900479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42923851-42924598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42929412-42929912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42929913-42930413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13830 Neighboring gene serine hydrolase like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42956436-42957120 Neighboring gene RN7SK pseudogene 80 Neighboring gene RNA, U6 small nuclear 513, pseudogene

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_060878.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    42520703..42520997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    43001685..43001979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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