LOC129929388 (ATAC-STARR-seq lymphoblastoid silent region 258) - Rat Genome Database

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Gene: LOC129929388 (ATAC-STARR-seq lymphoblastoid silent region 258) Homo sapiens
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Symbol: LOC129929388
Name: ATAC-STARR-seq lymphoblastoid silent region 258
RGD ID: 329403879
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
GRCh38111,012,087 - 11,012,316 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37111,072,144 - 11,072,373 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.0110,553,347 - 10,553,576 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic
GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3 copy number gain See cases [RCV000051459] Chr1:10637036..11293430 [GRCh38]
Chr1:10697093..11353487 [GRCh37]
Chr1:10619680..11276074 [NCBI36]
Chr1:1p36.22		 uncertain significance
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22		 pathogenic
NC_000001.11:g.10115497_16283149dup duplication not specified [RCV002286386] Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13		 likely pathogenic
GRCh38/hg38 1p36.22(chr1:10317912-11018880)x4 copy number gain See cases [RCV000141822] Chr1:10317912..11018880 [GRCh38]
Chr1:10377970..11078937 [GRCh37]
Chr1:10300557..11001524 [NCBI36]
Chr1:1p36.22		 uncertain significance
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 copy number loss See cases [RCV000141438] Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic|likely benign
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC129929388 COSMIC
GTEx LOC129929388 GTEx
Human Proteome Map LOC129929388 Human Proteome Map
NCBI Gene LOC129929388 ENTREZGENE