LOC132088611 (Neanderthal introgressed variant-containing enhancer experimental_1658) - Rat Genome Database

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Gene: LOC132088611 (Neanderthal introgressed variant-containing enhancer experimental_1658) Homo sapiens
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Symbol: LOC132088611
Name: Neanderthal introgressed variant-containing enhancer experimental_1658
RGD ID: 401825791
Description: This genomic region contains a Neanderthal adaptively introgressed genetic variant, and was validated as an enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 1:20408831 variant alleles. [provided by RefSeq, Sep 2023]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38120,082,253 - 20,082,422 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37120,408,746 - 20,408,915 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.0119,905,889 - 19,906,058 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:34662402  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 copy number loss See cases [RCV000051146] Chr1:15385267..20980349 [GRCh38]
Chr1:15711763..21306842 [GRCh37]
Chr1:15584350..21179429 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1 copy number loss See cases [RCV000138079] Chr1:19548795..20935131 [GRCh38]
Chr1:19875289..21261624 [GRCh37]
Chr1:19747876..21134211 [NCBI36]
Chr1:1p36.13-36.12		 likely pathogenic|uncertain significance
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 copy number loss See cases [RCV000053789] Chr1:18347821..22512894 [GRCh38]
Chr1:18674315..22839387 [GRCh37]
Chr1:18546902..22711974 [NCBI36]
Chr1:1p36.13-36.12		 pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC132088611 COSMIC
GTEx LOC132088611 GTEx
Human Proteome Map LOC132088611 Human Proteome Map
NCBI Gene LOC132088611 ENTREZGENE