LOC129932145 (ATAC-STARR-seq lymphoblastoid silent region 1654) - Rat Genome Database

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Gene: LOC129932145 (ATAC-STARR-seq lymphoblastoid silent region 1654) Homo sapiens
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Symbol: LOC129932145
Name: ATAC-STARR-seq lymphoblastoid silent region 1654
RGD ID: 329403186
Description: This genomic sequence represents an accessible chromatin region that was validated as a silencer based on its ability to repress 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
GRCh381192,810,233 - 192,810,292 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01192,157,303 - 192,157,362 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3		 pathogenic
GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1 copy number loss See cases [RCV000135590] Chr1:189034483..199615866 [GRCh38]
Chr1:189003614..199584994 [GRCh37]
Chr1:187270237..197851617 [NCBI36]
Chr1:1q31.1-32.1		 pathogenic
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
Single allele deletion Hyperparathyroidism 1 [RCV000677958] Chr1:191919194..194615758 [GRCh38]
Chr1:191888324..194584888 [GRCh37]
Chr1:1q31.2-31.3		 pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1		 pathogenic
GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1 copy number loss See cases [RCV000053950] Chr1:192567876..193180049 [GRCh38]
Chr1:192537006..193149179 [GRCh37]
Chr1:190803629..191415802 [NCBI36]
Chr1:1q31.2		 pathogenic
NM_002923.4(RGS2):c.203C>T (p.Ala68Val) single nucleotide variant not specified [RCV004449155] Chr1:192810258 [GRCh38]
Chr1:192779388 [GRCh37]
Chr1:1q31.2		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC129932145 COSMIC
GTEx LOC129932145 GTEx
Human Proteome Map LOC129932145 Human Proteome Map
NCBI Gene LOC129932145 ENTREZGENE