LOC129389631 (MPRA-validated peak6085 silencer) - Rat Genome Database

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Gene: LOC129389631 (MPRA-validated peak6085 silencer) Homo sapiens
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Symbol: LOC129389631
Name: MPRA-validated peak6085 silencer
RGD ID: 329339532
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
GRCh386123,363,951 - 123,364,151 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376123,685,096 - 123,685,296 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.06124,551,766 - 124,551,966 (+)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
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2		 pathogenic
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
NC_000006.11:g.(?_123539726)_(123825066_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103821] Chr6:123218581..123503921 [GRCh38]
Chr6:123539726..123825066 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.31(chr6:123352392-123845516)x3 copy number gain See cases [RCV000136997] Chr6:123352392..123845516 [GRCh38]
Chr6:123673537..124166661 [GRCh37]
Chr6:123715236..124208360 [NCBI36]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1 copy number loss See cases [RCV000137174] Chr6:121829616..126154472 [GRCh38]
Chr6:122150762..126475618 [GRCh37]
Chr6:122192461..126517311 [NCBI36]
Chr6:6q22.31-22.32		 uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q22.31(chr6:123206369-123959291)x3 copy number gain See cases [RCV000139579] Chr6:123206369..123959291 [GRCh38]
Chr6:123527514..124280436 [GRCh37]
Chr6:123569213..124322135 [NCBI36]
Chr6:6q22.31		 likely benign
GRCh38/hg38 6q22.31(chr6:123197871-124008917)x3 copy number gain See cases [RCV000143491] Chr6:123197871..124008917 [GRCh38]
Chr6:123519016..124330062 [GRCh37]
Chr6:123560715..124371761 [NCBI36]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.31(chr6:123206400-123981401)x3 copy number gain See cases [RCV000137762] Chr6:123206400..123981401 [GRCh38]
Chr6:123527545..124302546 [GRCh37]
Chr6:123569244..124344245 [NCBI36]
Chr6:6q22.31		 likely benign
GRCh38/hg38 6q22.31(chr6:123188343-124008918)x3 copy number gain See cases [RCV000143453] Chr6:123188343..124008918 [GRCh38]
Chr6:123509488..124330063 [GRCh37]
Chr6:123551187..124371762 [NCBI36]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1 copy number loss Intellectual disability, autosomal dominant 55, with seizures [RCV003327704] Chr6:113857248..130442177 [GRCh38]
Chr6:6q21-23.1		 pathogenic
GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 copy number gain See cases [RCV000137726] Chr6:117607147..126699980 [GRCh38]
Chr6:117928310..127021125 [GRCh37]
Chr6:118035003..127062818 [NCBI36]
Chr6:6q22.1-22.32		 pathogenic
GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1 copy number loss See cases [RCV000052197] Chr6:118975015..125713307 [GRCh38]
Chr6:119296180..126034453 [GRCh37]
Chr6:119337879..126076146 [NCBI36]
Chr6:6q22.31		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 copy number loss See cases [RCV000052196] Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33		 pathogenic
NC_000006.11:g.(?_123539726)_(123957940_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV000639198] Chr6:123218581..123636795 [GRCh38]
Chr6:123539726..123957940 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.31(chr6:123206400-123959297)x3 copy number gain See cases [RCV000053387] Chr6:123206400..123959297 [GRCh38]
Chr6:123527545..124280442 [GRCh37]
Chr6:123569244..124322141 [NCBI36]
Chr6:6q22.31		 uncertain significance

Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC129389631 COSMIC
GTEx LOC129389631 GTEx
Human Proteome Map LOC129389631 Human Proteome Map
NCBI Gene LOC129389631 ENTREZGENE