LOC129388708 (MPRA-validated peak610 silencer) - Rat Genome Database

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Gene: LOC129388708 (MPRA-validated peak610 silencer) Homo sapiens
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Symbol: LOC129388708
Name: MPRA-validated peak610 silencer
RGD ID: 329340167
Description: This genomic region was identified as an uncharacterized cis-regulatory element (CRE) that lacked a promoter, enhancer or CTCF-bound insulator chromatin signature. It was validated as a silencer that could repress activity of a super core promoter (SCP1) by STARR-seq massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. [provided by RefSeq, Apr 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
GRCh381194,190,165 - 194,190,365 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01193,539,036 - 193,539,236 (+)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:32103011  


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
NC_000001.11:g.194043799_194353490dup duplication Primary amenorrhea [RCV000754397] Chr1:194043799..194353490 [GRCh38]
Chr1:194012929..194322620 [GRCh37]
Chr1:1q31.3		 likely benign
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 1q31.2-31.3(chr1:193733481-196205927) copy number loss Autism spectrum disorder [RCV003883412] Chr1:193733481..196205927 [GRCh38]
Chr1:1q31.2-31.3		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC129388708 COSMIC
GTEx LOC129388708 GTEx
Human Proteome Map LOC129388708 Human Proteome Map
NCBI Gene LOC129388708 ENTREZGENE