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LOC123480944 Sharpr-MPRA regulatory region 13307 [ Homo sapiens (human) ]

Gene ID: 123480944, updated on 12-Sep-2024

Summary

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Gene symbol
LOC123480944
Gene description
Sharpr-MPRA regulatory region 13307
Gene type
biological region
Feature type(s)
regulatory: silencer
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 repressive element 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 Repressive DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Nov 2021]
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Genomic context

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See LOC123480944 in Genome Data Viewer
Location:
4q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (146241997..146242291)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (149557976..149558270)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (147163149..147163443)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15739 Neighboring gene LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:147143236-147144435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147162227-147163143 Neighboring gene reeler domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21982 Neighboring gene solute carrier family 10 member 7 Neighboring gene uncharacterized LOC105377472 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:147250043-147251242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21988 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:147271442-147272028 Neighboring gene NANOG hESC enhancer GRCh37_chr4:147289228-147289729 Neighboring gene NANOG hESC enhancer GRCh37_chr4:147302440-147303022 Neighboring gene NANOG hESC enhancer GRCh37_chr4:147320049-147320582 Neighboring gene microRNA 7849

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_077638.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    146241997..146242291
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    149557976..149558270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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