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LOC124375234 Sharpr-MPRA regulatory region 12946 [ Homo sapiens (human) ]

Gene ID: 124375234, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124375234
Gene description
Sharpr-MPRA regulatory region 12946
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 DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
9q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131297142..131297436)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143505424..143505717)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (134172529..134172823)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134007050-134007224 Neighboring gene RNA, U6 small nuclear 881, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr9:134019614-134020115 Neighboring gene Sharpr-MPRA regulatory region 7681 Neighboring gene nucleoporin 214 Neighboring gene enhancer-blocking element 9-3 overlapping NUP214 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:134079595-134080149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134102195-134103194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134103195-134104193 Neighboring gene VISTA enhancer hs1963 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134128001-134128317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134129269-134129770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29175 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134144226-134144388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134150612-134151224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134157582-134158440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134158441-134159298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134163383-134164298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29185 Neighboring gene family with sequence similarity 78 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134176375-134176876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134176877-134177376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20412 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134197285-134197821 Neighboring gene uncharacterized LOC105376299 Neighboring gene phospholipid phosphatase 7 (inactive) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134205514-134206468 Neighboring gene uncharacterized LOC105376300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134227487-134227988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134230857-134231474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134231475-134232090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134234556-134235172 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134248209-134248730 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134248731-134249254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29187 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:134269973-134270734 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:134271497-134272258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134276654-134277645 Neighboring gene proline rich coiled-coil 2B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134284252-134284752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29189 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134311463-134312438 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134312439-134313412 Neighboring gene Sharpr-MPRA regulatory region 9532 Neighboring gene small nucleolar RNA, C/D box 62A

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_078955.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    131297142..131297436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    143505424..143505717
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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