LOC130066221 (ATAC-STARR-seq lymphoblastoid active region 18148) - Rat Genome Database

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Gene: LOC130066221 (ATAC-STARR-seq lymphoblastoid active region 18148) Homo sapiens
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Symbol: LOC130066221
Name: ATAC-STARR-seq lymphoblastoid active region 18148
RGD ID: 329830402
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
GRCh382057,400,812 - 57,400,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372055,975,868 - 55,975,967 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.02059,178,570 - 59,178,669 (+)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 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 copy number gain See cases [RCV000135622] Chr20:55630597..60941207 [GRCh38]
Chr20:54220678..59516263 [GRCh37]
Chr20:53639062..58949658 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33		 pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33		 pathogenic
GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1 copy number loss See cases [RCV000141033] Chr20:54594888..58190583 [GRCh38]
Chr20:53211427..56765639 [GRCh37]
Chr20:52644834..56199045 [NCBI36]
Chr20:20q13.2-13.32		 pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
GRCh38/hg38 20q13.31(chr20:56929154-57422442)x3 copy number gain See cases [RCV000052794] Chr20:56929154..57422442 [GRCh38]
Chr20:55504210..55997498 [GRCh37]
Chr20:54937617..55430904 [NCBI36]
Chr20:20q13.31		 uncertain significance
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135) copy number gain 20q13.13qter duplication [RCV004555205] Chr20:50805746..64334135 [GRCh38]
Chr20:20q13.13-13.33		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2292864PRSTS43_HProstate tumor susceptibility QTL 43 (human)0.620.05Prostate tumor susceptibility204730303964444167Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130066221 COSMIC
GTEx LOC130066221 GTEx
Human Proteome Map LOC130066221 Human Proteome Map
NCBI Gene LOC130066221 ENTREZGENE