LOC132090659 (Neanderthal introgressed variant-containing enhancer experimental_1624) - Rat Genome Database

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Gene: LOC132090659 (Neanderthal introgressed variant-containing enhancer experimental_1624) Homo sapiens
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Symbol: LOC132090659
Name: Neanderthal introgressed variant-containing enhancer experimental_1624
RGD ID: 401824871
Description: This genomic region contains a Neanderthal adaptively introgressed expression-modulating variant (emVar), and was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 1:20389874 or rs12028351 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
GRCh38120,063,296 - 20,063,465 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37120,389,789 - 20,389,958 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.0119,886,968 - 19,887,137 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


PMID:34662402  



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1 to 5 of 5 rows
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 1p36.13(chr1:19093306-20063342)x1 copy number loss See cases [RCV000053793] Chr1:19093306..20063342 [GRCh38]
Chr1:19419800..20389835 [GRCh37]
Chr1:19292387..20262422 [NCBI36]
Chr1:1p36.13		 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
1 to 5 of 5 rows

The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
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
RefSeq Transcripts NG_231218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL158172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
COSMIC LOC132090659 COSMIC
GTEx LOC132090659 GTEx
Human Proteome Map LOC132090659 Human Proteome Map
NCBI Gene LOC132090659 ENTREZGENE