LOC132088651 (Neanderthal introgressed variant-containing enhancer experimental_4384) - Rat Genome Database

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Gene: LOC132088651 (Neanderthal introgressed variant-containing enhancer experimental_4384) Homo sapiens
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Symbol: LOC132088651
Name: Neanderthal introgressed variant-containing enhancer experimental_4384
RGD ID: 401825365
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 the non-introgressed 1:216854455 variant allele. [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
GRCh381216,681,028 - 216,681,197 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371216,854,370 - 216,854,539 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01215,921,397 - 215,921,566 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
LOC132088651HumanUsher syndrome  IAGPRGD:134354448554872ClinVar Annotator: match by term: Usher syndromeClinVarPMID:28041643

PMID:34662402  



.

1 to 10 of 15 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41		 pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41(chr1:216598114-218007334)x3 copy number gain See cases [RCV000138050] Chr1:216598114..218007334 [GRCh38]
Chr1:216771456..218180676 [GRCh37]
Chr1:214838079..216247299 [NCBI36]
Chr1:1q41		 uncertain significance
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41		 likely pathogenic
GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3 copy number gain See cases [RCV000142206] Chr1:214028574..217327791 [GRCh38]
Chr1:214201917..217501133 [GRCh37]
Chr1:212268540..215567756 [NCBI36]
Chr1:1q32.3-41		 uncertain significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
1 to 10 of 15 rows





RefSeq Transcripts NG_229210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC096635 (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 LOC132088651 COSMIC
GTEx LOC132088651 GTEx
Human Proteome Map LOC132088651 Human Proteome Map
NCBI Gene LOC132088651 ENTREZGENE