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LOC112577533 Sharpr-MPRA regulatory region 12474 [ Homo sapiens (human) ]

Gene ID: 112577533, updated on 10-Dec-2024

Summary

Gene symbol
LOC112577533
Gene description
Sharpr-MPRA regulatory region 12474
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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jun 2018]
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Genomic context

See LOC112577533 in Genome Data Viewer
Location:
1q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (207748124..207748418)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (206994870..206995164)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207921469..207921763)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement C3b/C4b receptor 1 like Neighboring gene complement C3b/C4b receptor 1 (Knops blood group) pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207903492-207904170 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2449 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:207925929-207926286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207935554-207936354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207936355-207937153 Neighboring gene CD46 molecule Neighboring gene cell division cycle associated 4 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2452 Neighboring gene MIR29B2 and MIR29C host gene Neighboring gene microRNA 29c

Genomic regions, transcripts, and products

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_060453.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    207748124..207748418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    206994870..206995164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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