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LOC121627869 Sharpr-MPRA regulatory region 12835 [ Homo sapiens (human) ]

Gene ID: 121627869, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627869
Gene description
Sharpr-MPRA regulatory region 12835
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 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121627869 in Genome Data Viewer
Location:
19q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (32540623..32540917)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35059319..35059613)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33031529..33031823)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene DPY19L3 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10481 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:32911836-32912044 Neighboring gene dpy-19 like C-mannosyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14429 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:33051335-33051521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14430 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:33071921-33072097 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:33083895-33085094 Neighboring gene programmed cell death 5 Neighboring gene ankyrin repeat domain 27 Neighboring gene small nucleolar RNA, H/ACA box 68B

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_075060.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    32540623..32540917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    35059319..35059613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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