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LOC112997592 Sharpr-MPRA regulatory region 11344 [ Homo sapiens (human) ]

Gene ID: 112997592, updated on 10-Oct-2023

Summary

Gene symbol
LOC112997592
Gene description
Sharpr-MPRA regulatory region 11344
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 unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Aug 2018]
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Genomic context

Location:
5p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (43631287..43631581)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (43884920..43885214)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (43631389..43631683)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15995 Neighboring gene poly(A) binding protein interacting protein 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:43580594-43581340 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85301 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:43602630-43602849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15997 Neighboring gene NNT antisense RNA 1 Neighboring gene adenosylmethionine decarboxylase 1 pseudogene 3 Neighboring gene nicotinamide nucleotide transhydrogenase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85370 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85375 Neighboring gene ribosomal protein L29 pseudogene 12 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43708151-43708652 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:43717701-43718325 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:43745853-43746524 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85421 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85427 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85485 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85525 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85570 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85621 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85633 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85647 Neighboring gene RNA, U6 small nuclear 381, pseudogene

Genomic regions, transcripts, and products

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_061591.1 

    Range
    101..395
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    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    43631287..43631581
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    43884920..43885214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)