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LOC112067719 Sharpr-MPRA regulatory region 13774 [ Homo sapiens (human) ]

Gene ID: 112067719, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112067719
Gene description
Sharpr-MPRA regulatory region 13774
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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Location:
11p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2992299..2992593)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3081541..3081835)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3013529..3013823)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2949927-2950535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2950536-2951145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2951146-2951754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2954769-2955381 Neighboring gene pleckstrin homology like domain family A member 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2961339-2961515 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2967017-2967632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2967633-2968246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2968247-2968862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2968863-2969476 Neighboring gene nucleosome assembly protein 1 like 4 Neighboring gene NANOG hESC enhancer GRCh37_chr11:2982073-2982579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:2986349-2986848 Neighboring gene MPRA-validated peak1165 silencer Neighboring gene small nucleolar RNA, H/ACA box 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:3012128-3012984 Neighboring gene cysteinyl-tRNA synthetase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3035645-3036144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3051685-3052185 Neighboring gene CARS1 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:3061281-3062480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3063691-3064626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3064627-3065562 Neighboring gene RNA, U1 small nuclear 91, 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_056450.1 

    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    2992299..2992593
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187585.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    223369..223663
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    3081541..3081835
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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