LOC107988025 IKBKGP1 upstream recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107988025
Gene description: IKBKGP1 upstream 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 region is known to undergo non-allelic homologous recombination (NAHR) with the IKBKGP1 recombination region, found in direct orientation about 11 kb downstream of this region relative to the reference genome. This recombination region is part of a larger 35 kb low-copy repeat (LCR) known as LCR2. A similar 35 kb low-copy repeat, LCR1, is found about 80 kb upstream of this region, relative to the reference genome. Copy number variation (CNV) due to NAHR events between misaligned Medium Reiterated 67B (MER67B) repeat units in this region and the IKBKGP1 recombination region have been observed and result in duplications (known as MER6Bdup) and deletions (known as IKBKGPdel) of the intervening sequence. While these CNVs are benign, it has been suggested the presence of these alleles could promote other recombination events that result in the pathological IKBKGdel deletion, which removes a portion of the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) gene. Alterations that result in a non-functional IKBKG gene are a cause of incontinentia pigmenti (IP), and X-linked neuroectodermal disorder that causes lethality in males. [provided by RefSeq, Jun 2016]
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Genomic context

Location:: Xq28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154634732..154635610)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152871165..152872043)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153862998..153863876)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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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

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General gene information

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Other Names

delta NEMO upstream recombination region
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1 upstream 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.