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LOC121853015 Sharpr-MPRA regulatory region 5175 [ Homo sapiens (human) ]

Gene ID: 121853015, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121853015
Gene description
Sharpr-MPRA regulatory region 5175
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (57461113..57461407)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (59238924..59239218)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (56036169..56036463)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RBM38 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:55966169-55966670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:55966671-55967170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55970944-55971905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55973481-55973980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55975022-55975885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18148 Neighboring gene RNA binding motif protein 38 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55984023-55984528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18149 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:55985201-55985370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55988977-55989746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55989747-55990514 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:55990515-55991283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18154 Neighboring gene uncharacterized LOC124904939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18155 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:56012611-56012842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56014209-56014710 Neighboring gene VISTA enhancer hs1971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18156 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr20:56026537-56027036 and GRCh37_chr20:56027096-56027596 Neighboring gene uncharacterized LOC105372688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:56039390-56040220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56042501-56043002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56045653-56046391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56048063-56048564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56048565-56049064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56051358-56051858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13063 Neighboring gene MPRA-validated peak4284 silencer Neighboring gene high mobility group box 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56074415-56074974 Neighboring gene MPRA-validated peak4285 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18164 Neighboring gene CCCTC-binding factor like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56098387-56099325

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_076123.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    57461113..57461407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    59238924..59239218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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