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LOC121466703 Sharpr-MPRA regulatory region 9665 [ Homo sapiens (human) ]

Gene ID: 121466703, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121466703
Gene description
Sharpr-MPRA regulatory region 9665
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 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, May 2021]
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Genomic context

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Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57167046..57167340)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57134882..57135176)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57560829..57561123)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene signal transducer and activator of transcription 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57504271-57505218 Neighboring gene uncharacterized LOC124902946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57505219-57506164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57521273-57521926 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57527325-57528080 Neighboring gene LDL receptor related protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57540016-57540944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57542802-57543729 Neighboring gene LRP1 antisense RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57566901-57567114 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:57570347-57571546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57586343-57586842 Neighboring gene microRNA 1228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57608455-57608977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57609975-57610474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57610622-57611230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57611231-57611837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57617093-57617999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4578 Neighboring gene neurexophilin 4

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_074636.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57167046..57167340
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57134882..57135176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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