LOC130002226 (ATAC-STARR-seq lymphoblastoid active region 28700) - Rat Genome Database

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Gene: LOC130002226 (ATAC-STARR-seq lymphoblastoid active region 28700) Homo sapiens
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Symbol: LOC130002226
Name: ATAC-STARR-seq lymphoblastoid active region 28700
RGD ID: 329827292
Description: This genomic sequence represents an accessible chromatin region that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 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
GRCh38999,181,626 - 99,182,085 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379101,943,908 - 101,944,367 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.09111,353,339 - 111,353,798 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
LOC130002226Humanthoracic aortic aneurysm  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissectionsClinVarPMID:21358634 and PMID:28492532

PMID:35858748  



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1 to 10 of 41 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3		 pathogenic
NM_005894.2(CD5L):c.140C>T (p.Thr47Ile) single nucleotide variant Malignant melanoma [RCV000064221] Chr1:157836071 [GRCh38]
Chr1:157805861 [GRCh37]
Chr1:156072485 [NCBI36]
Chr1:1q23.1		 not provided
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 copy number loss not provided [RCV000684658] Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_005894.3(CD5L):c.160G>T (p.Asp54Tyr) single nucleotide variant not specified [RCV004297200] Chr1:157836051 [GRCh38]
Chr1:157805841 [GRCh37]
Chr1:1q23.1		 uncertain significance
GRCh37/hg19 1q23.1(chr1:157701265-157949825)x3 copy number gain not provided [RCV000684662] Chr1:157701265..157949825 [GRCh37]
Chr1:1q23.1		 uncertain significance
GRCh37/hg19 1q23.1(chr1:157347489-157804172)x3 copy number gain not provided [RCV000684661] Chr1:157347489..157804172 [GRCh37]
Chr1:1q23.1		 uncertain significance
1 to 10 of 41 rows





RefSeq Transcripts NG_181672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL162427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
COSMIC LOC130002226 COSMIC
GTEx LOC130002226 GTEx
Human Proteome Map LOC130002226 Human Proteome Map
NCBI Gene LOC130002226 ENTREZGENE