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LOC121530611 Sharpr-MPRA regulatory region 4251 [ Homo sapiens (human) ]

Gene ID: 121530611, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121530611
Gene description
Sharpr-MPRA regulatory region 4251
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, Jun 2021]
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Genomic context

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Location:
16p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2512468..2512762)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2534598..2534892)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2562469..2562763)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7055 Neighboring gene netrin 3 Neighboring gene TBC1 domain family member 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2532873-2533374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2533375-2533874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2546817-2547422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2550095-2550912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2557190-2557690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2557691-2558191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2561075-2561678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7057 Neighboring gene ATPase H+ transporting V0 subunit c Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7059 Neighboring gene amidohydrolase domain containing 2 Neighboring gene cementum protein 1

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_074810.1 

    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
    2512468..2512762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    2534598..2534892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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