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LOC112533661 Sharpr-MPRA regulatory region 4721 [ Homo sapiens (human) ]

Gene ID: 112533661, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112533661
Gene description
Sharpr-MPRA regulatory region 4721
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 DNase unmatched - State 17:Gen3', transcription 3' end of genes, highly expressed; more exonic) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2018]
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Genomic context

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See LOC112533661 in Genome Data Viewer
Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (67224013..67224307)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (68099810..68100104)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (65220129..65220423)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64971595-64972549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64972550-64973503 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:64974248-64974825 and GRCh37_chr17:64974826-64975402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64979083-64979584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12616 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65001812-65002312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65002313-65002813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12617 Neighboring gene MPRA-validated peak2947 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12618 Neighboring gene MPRA-validated peak2948 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65049323-65050167 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65061048-65061409 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 1 Neighboring gene MPRA-validated peak2950 silencer Neighboring gene helicase with zinc finger Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:65103924-65105123 Neighboring gene Sharpr-MPRA regulatory region 3705 Neighboring gene ribosomal protein L36a pseudogene 48 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65240536-65241523 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65241524-65242510 Neighboring gene HELZ antisense RNA 1

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_057152.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    67224013..67224307
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    68099810..68100104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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