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LOC128462397 CRISPRi-FlowFISH-validated BLK regulatory element GRCh37_chr8:11349255-11350515 [ Homo sapiens (human) ]

Gene ID: 128462397, updated on 10-Oct-2023

Summary

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Gene symbol
LOC128462397
Gene description
CRISPRi-FlowFISH-validated BLK regulatory element GRCh37_chr8:11349255-11350515
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region was predicted to be an enhancer based on an activity-by-contact (ABC) model that predicts enhancer-gene connections, where the putative enhancer strength is measured by DNase I hypersensitivity and H3K27 acetylation, and the contact frequency by Hi-C. It was validated as a positively-acting cis-regulatory element for the BLK (BLK proto-oncogene, Src family tyrosine kinase) gene based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in GM12878 lymphoblastoid cells. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11491746..11493006)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (8247219..8248467, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene FAM167A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1084, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11264728-11265248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11265249-11265768 Neighboring gene Sharpr-MPRA regulatory region 7548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11273999-11274500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11274501-11275000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11282034-11282577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11282578-11283120 Neighboring gene family with sequence similarity 167 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11293411-11293930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11293931-11294450 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11295726-11295929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11300354-11300945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11309217-11309792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11309793-11310368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11310369-11310944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11325425-11326194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27015 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11351829-11353028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27022 Neighboring gene BLK proto-oncogene, Src family tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27025 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11395673-11395837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11407118-11408317 Neighboring gene uncharacterized LOC105379241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18935 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:11424419-11425618 Neighboring gene long intergenic non-protein coding RNA 208

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-wide enhancer maps link risk variants to disease genes. Nasser J, et al. Nature, 2021 May. PMID 33828297, Free PMC Article
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 27016

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_149585.1 

    Range
    101..1361
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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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    11491746..11493006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    1855075..1856325 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    8247219..8248467 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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