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LOC121627955 Sharpr-MPRA regulatory region 13395 [ Homo sapiens (human) ]

Gene ID: 121627955, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627955
Gene description
Sharpr-MPRA regulatory region 13395
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 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121627955 in Genome Data Viewer
Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (47452220..47452514)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (47943464..47943758)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (47847969..47848263)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 22A Neighboring gene uncharacterized LOC124905140 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:47550202-47551401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47560499-47561076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47566897-47567396 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:47571494-47572693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47588168-47588668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47608371-47608872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47643595-47644094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47677397-47677897 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47724406-47725605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19269 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47765496-47766695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47771462-47771962 Neighboring gene uncharacterized LOC339685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47803821-47804321 Neighboring gene long intergenic non-protein coding RNA 1644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47945374-47946198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47954815-47955315 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47965246-47965746 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47983860-47985059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48021971-48022470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48024594-48025473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48025474-48026352 Neighboring gene long intergenic non-protein coding RNA 898

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_075147.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    47452220..47452514
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    47943464..47943758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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