LOC107988022 IKBKG downstream recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107988022
Gene description: IKBKG downstream 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 a similar region, the IKBKG recombination region, which is located about 11 kb upstream of this region, relative to the reference genome, on the q arm of the X chromosome. This recombination region is found just downstream of the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKB, also known as NEMO) gene. NAHR involving this region and the IKBKG recombination region can result in a deletion of the intervening sequence, leading to a partial deletion of the IKBKG gene. This rearrangement is observed in a majority of cases of incontinentia pigmenti (IP), an X-linked dominant disorder that affects many parts of the body, including skin, eyes, teeth, hair, and the central nervous system. This disorder causes lethality in males and skewed X-inactivation is observed in females. This recombination region is part of a larger 35 kilobase low-copy repeat (LCR), named LCR1, which shares high sequence identity with the LCR2 low-copy repeat region located downstream of this region in reverse orientation. A pseudogene of IKBKG (IKBKGP1) is found within LCR2, and gene conversion and other recombination events between sequences within LCR2 and LCR1 have been observed, some of which are pathogenic. [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 (154568820..154569698)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152805218..152806096)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153797051..153797929)

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

NEMO downstream recombination region
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma downstream 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.