LOC130063256 (ATAC-STARR-seq lymphoblastoid active region 13805) - Rat Genome Database

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Gene: LOC130063256 (ATAC-STARR-seq lymphoblastoid active region 13805) Homo sapiens
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Symbol: LOC130063256
Name: ATAC-STARR-seq lymphoblastoid active region 13805
RGD ID: 329825500
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
GRCh38195,679,605 - 5,679,744 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37195,679,616 - 5,679,755 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.0195,666,291 - 5,666,430 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:35858748  


Genomics

Variants

.
Variants in LOC130063256
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 copy number gain See cases [RCV000052882] Chr19:4934885..6501642 [GRCh38]
Chr19:4934897..6501653 [GRCh37]
Chr19:4885897..6452653 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_205767.3(MICOS13):c.150del (p.Ala51fs) deletion Combined oxidative phosphorylation deficiency 37 [RCV004698357]|not provided [RCV002052404] Chr19:5679643 [GRCh38]
Chr19:5679654 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_205767.3(MICOS13):c.136G>A (p.Glu46Lys) single nucleotide variant not provided [RCV002842351] Chr19:5679657 [GRCh38]
Chr19:5679668 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_205767.3(MICOS13):c.75G>A (p.Val25=) single nucleotide variant not provided [RCV002663826] Chr19:5679718 [GRCh38]
Chr19:5679729 [GRCh37]
Chr19:19p13.3		 likely benign
NM_205767.3(MICOS13):c.50T>C (p.Val17Ala) single nucleotide variant not provided [RCV003693298] Chr19:5679743 [GRCh38]
Chr19:5679754 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_205767.3(MICOS13):c.63C>T (p.Ala21=) single nucleotide variant not provided [RCV003550403] Chr19:5679730 [GRCh38]
Chr19:5679741 [GRCh37]
Chr19:19p13.3		 likely benign
NM_205767.3(MICOS13):c.147C>G (p.Pro49=) single nucleotide variant not provided [RCV003861172] Chr19:5679646 [GRCh38]
Chr19:5679657 [GRCh37]
Chr19:19p13.3		 likely benign
NM_205767.3(MICOS13):c.54T>A (p.Ala18=) single nucleotide variant MICOS13-related disorder [RCV003901984] Chr19:5679739 [GRCh38]
Chr19:5679750 [GRCh37]
Chr19:19p13.3		 likely benign
NM_205767.3(MICOS13):c.78C>A (p.Tyr26Ter) single nucleotide variant Inborn genetic diseases [RCV004419704] Chr19:5679715 [GRCh38]
Chr19:5679726 [GRCh37]
Chr19:19p13.3		 likely pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130063256 COSMIC
GTEx LOC130063256 GTEx
Human Proteome Map LOC130063256 Human Proteome Map
NCBI Gene LOC130063256 ENTREZGENE