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LOC112441449 Sharpr-MPRA regulatory region 4309 [ Homo sapiens (human) ]

Gene ID: 112441449, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112441449
Gene description
Sharpr-MPRA regulatory region 4309
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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2018]
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Genomic context

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See LOC112441449 in Genome Data Viewer
Location:
16p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (336229..336523)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (331102..331396)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (386229..386523)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:330732-331489 Neighboring gene Rho GDP dissociation inhibitor gamma Neighboring gene protein disulfide isomerase family A member 2 Neighboring gene axin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:359414-359928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:359929-360443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:366745-367498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:367499-368250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:368251-369004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:374949-375556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:389458-390182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:391465-392016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:410874-411722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:411723-412570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:413199-413706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:413707-414213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:414214-414720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:422268-422839 Neighboring gene mitochondrial ribosomal protein L28 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:431071-431970 Neighboring gene post-GPI attachment to proteins 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6916 Neighboring gene uncharacterized LOC100134368 Neighboring gene ribosomal protein L23a pseudogene 5

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_056821.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    336229..336523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    331102..331396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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