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LOC123466230 Sharpr-MPRA regulatory region 605 [ Homo sapiens (human) ]

Gene ID: 123466230, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123466230
Gene description
Sharpr-MPRA regulatory region 605
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 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Nov 2021]
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Genomic context

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Location:
4p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (8110642..8110936)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (8089067..8089361)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (8112369..8112663)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7973234-7973789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7973790-7974346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15255 Neighboring gene Sharpr-MPRA regulatory region 1176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7986340-7987294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7987295-7988247 Neighboring gene actin binding LIM protein family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7994807-7995347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8000331-8000831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8007792-8008380 Neighboring gene Sharpr-MPRA regulatory region 2931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8026198-8026721 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:8026730-8027230 Neighboring gene microRNA 95 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8039172-8039672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8041509-8042464 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8050961-8051572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8062037-8062764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8072999-8073862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8080453-8080952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8086980-8087888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8098780-8099499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8105045-8105756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8105757-8106466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8106467-8107176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8107177-8107886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8110453-8111188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8127946-8128570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8151878-8152752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8175771-8176270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8177753-8178598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8189546-8190072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8191649-8192174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8193227-8193751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21281 Neighboring gene guanine monophosphate synthase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21288 Neighboring gene SH3 domain and tetratricopeptide repeats 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8207619-8208120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8208121-8208620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8210744-8211508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8217127-8217691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8217692-8218255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8228681-8229350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8230692-8231362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8239598-8240458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8240459-8241317

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_077505.1 

    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    8110642..8110936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    8089067..8089361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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