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LOC121627843 Sharpr-MPRA regulatory region 9448 [ Homo sapiens (human) ]

Gene ID: 121627843, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627843
Gene description
Sharpr-MPRA regulatory region 9448
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, Jun 2021]
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Genomic context

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Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1218050..1218344)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1186601..1186895)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1218049..1218343)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene strawberry notch homolog 2 Neighboring gene collagen alpha-1(VII) chain Neighboring gene SBNO2 intron CAGE-defined low expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13590 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:1177383-1178582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1179969-1180484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1184302-1184862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1184863-1185421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9667 Neighboring gene Sharpr-MPRA regulatory region 12578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13593 Neighboring gene Sharpr-MPRA regulatory region 734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9670 Neighboring gene Sharpr-MPRA regulatory region 13808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1208870-1209555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1210982-1211768 Neighboring gene high mobility group box 2 pseudogene 1 Neighboring gene serine/threonine kinase 11 intron 1 Alu-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13596 Neighboring gene serine/threonine kinase 11 Neighboring gene serine/threonine kinase 11 intron 3 Alu-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1239955-1240513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13599 Neighboring gene CACN subunit beta associated regulatory protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9673 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13600 Neighboring gene CBARP divergent transcript Neighboring gene ATP synthase F1 subunit delta

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_075034.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    1218050..1218344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    1186601..1186895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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