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LOC126057115 CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:54803747-54804946 [ Homo sapiens (human) ]

Gene ID: 126057115, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126057115
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:54803747-54804946
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 region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. [provided by RefSeq, Aug 2022]
Annotation information
Annotation category: only annotated on alternate loci in reference assembly
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Genomic context

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See LOC126057115 in Genome Data Viewer
Location:
chromosome: 19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_9) NT_187693.1 (274861..276060)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_1) NW_003571054.1 (274632..275831)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_2) NW_003571055.2 (274513..275712)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_8) NW_003571061.2 (274888..276087)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57382283..57383482)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54803747..54804946)

NW_003571054.1Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54778410-54779374 Neighboring gene leukocyte immunoglobulin like receptor B2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:54782879-54784078 Neighboring gene microRNA 4752 Neighboring gene leukocyte immunoglobulin like receptor A3 Neighboring gene MPRA-validated peak3552 silencer Neighboring gene leukocyte immunoglobulin like receptor A5 Neighboring gene vomeronasal 1 receptor 104 pseudogene

NW_003571055.2Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905378 Neighboring gene leukocyte immunoglobulin-like receptor subfamily B member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54720754-54721590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54721591-54722426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54789309-54789810 Neighboring gene microRNA 4752 Neighboring gene leukocyte immunoglobulin like receptor A3 Neighboring gene MPRA-validated peak3552 silencer Neighboring gene leukocyte immunoglobulin like receptor A5 Neighboring gene vomeronasal 1 receptor 104 pseudogene

NW_003571061.2Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin like receptor B2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:54782879-54784078 Neighboring gene microRNA 4752 Neighboring gene leukocyte immunoglobulin like receptor A3 Neighboring gene leukocyte immunoglobulin like receptor A5 Neighboring gene vomeronasal 1 receptor 104 pseudogene

NT_187693.1Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54778410-54779374 Neighboring gene leukocyte immunoglobulin like receptor B2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:54782879-54784078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54789309-54789810 Neighboring gene microRNA 4752 Neighboring gene leukocyte immunoglobulin like receptor A3 Neighboring gene MPRA-validated peak3552 silencer Neighboring gene leukocyte immunoglobulin like receptor A5 Neighboring gene vomeronasal 1 receptor 104 pseudogene

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. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article

GeneRIFs: Gene References Into Functions

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_081651.1 

    Range
    101..1300
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    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 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    274632..275831
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    274513..275712
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

    Range
    274888..276087
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

    Range
    274861..276060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    57382283..57383482
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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