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LOC124174259 Sharpr-MPRA regulatory region 838 [ Homo sapiens (human) ]

Gene ID: 124174259, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124174259
Gene description
Sharpr-MPRA regulatory region 838
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 non-DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
8q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (55919650..55919944)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (56296800..56297094)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (56832209..56832503)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27376 Neighboring gene trimethylguanosine synthase 1 Neighboring gene MPRA-validated peak7024 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27377 Neighboring gene Sharpr-MPRA regulatory region 11739 Neighboring gene Sharpr-MPRA regulatory region 4705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27379 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27383 Neighboring gene Sharpr-MPRA regulatory region 4485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19207 Neighboring gene LYN proto-oncogene, Src family tyrosine kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56826630-56827130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56827131-56827631 Neighboring gene small nucleolar RNA, H/ACA box 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27388 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:56843083-56843621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:56852106-56852621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56892491-56892991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56893036-56893536 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:56897215-56897411 Neighboring gene RNA, 7SL, cytoplasmic 798, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27398 Neighboring gene RNA, 7SL, cytoplasmic 323, pseudogene

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_078558.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    55919650..55919944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    56296800..56297094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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