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LOC110006317 serine/threonine kinase 11 intron 1 Alu-mediated recombination region [ Homo sapiens (human) ]

Gene ID: 110006317, updated on 4-Mar-2025

Summary

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Gene symbol
LOC110006317
Gene description
serine/threonine kinase 11 intron 1 Alu-mediated recombination region
Gene type
biological region
Feature type(s)
misc_recomb: non_allelic_homologous
mobile_element
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This biological region is found within an intron of the serine/threonine kinase 11 (STK11) gene, and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the serine/threonine kinase 11 intron 3 recombination region, located about 7 kb centromere-proximal to this region on the reference genome. Recombination between these regions can result in deletion of the intervening sequences. Deletion of a portion of the serine/threonine kinase 11 gene is one cause of Peutz-Jeghers syndrome, an autosomal dominant condition. Other deletions, rearrangements, and mutations have been shown to be causative for Peutz-Jeghers syndrome, but are not represented in this region. This region represents only the recurrent recombination event that occurs with the serine/threonine kinase 11 intron 3 recombination region. [provided by RefSeq, Mar 2017]
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Genomic context

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See LOC110006317 in Genome Data Viewer
Location:
19p13.3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1212571..1213295)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1181118..1181842)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1212570..1213294)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene strawberry notch homolog 2 Neighboring gene collagen alpha-1(VII) chain Neighboring gene SBNO2 intron CAGE-defined low expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13590 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:1177383-1178582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1179969-1180484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1184302-1184862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1184863-1185421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9667 Neighboring gene Sharpr-MPRA regulatory region 12578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13593 Neighboring gene Sharpr-MPRA regulatory region 734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9670 Neighboring gene Sharpr-MPRA regulatory region 13808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1208870-1209555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1210982-1211768 Neighboring gene high mobility group box 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13596 Neighboring gene Sharpr-MPRA regulatory region 9448 Neighboring gene serine/threonine kinase 11 Neighboring gene serine/threonine kinase 11 intron 3 Alu-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1239955-1240513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13599 Neighboring gene CACN subunit beta associated regulatory protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9673 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13600 Neighboring gene CBARP divergent transcript Neighboring gene ATP synthase F1 subunit delta

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. Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome. Yang HR, et al. Dig Dis Sci, 2010 Dec. PMID 20393878
  2. Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome. Borun P, et al. Fam Cancer, 2015 Sep. PMID 25841653, Free PMC Article
  3. Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families. Orellana P, et al. Clin Genet, 2013 Apr. PMID 22775437
  4. High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients. Papp J, et al. BMC Med Genet, 2010 Nov 30. PMID 21118512, Free PMC Article
  5. Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. Resta N, et al. Hum Genet, 2010 Oct. PMID 20623358

See all (10) citations in PubMed

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)

General gene information

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Other Names

  • STK11 intron 1 Alu-mediated recombination region

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_053047.1 

    Range
    101..825
    Download
    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 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    1212571..1213295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    1181118..1181842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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