LOC131388652 (STARR-seq mESC enhancer starr_41066) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: LOC131388652 (STARR-seq mESC enhancer starr_41066) Mus musculus
Analyze
Symbol: LOC131388652
Name: STARR-seq mESC enhancer starr_41066
RGD ID: 401709533
Description: This genomic region represents an enhancer that was validated by the STARR-seq (self-transcribing active regulatory region sequencing) reporter assay in ground-state (2iL) mouse embryonic stem cells, where it was defined as a C1 class enhancer that overlaps an active chromatin signature. [provided by RefSeq, Jul 2023]
Type: biological-region
RefSeq Status: REVIEWED
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391656,430,683 - 56,432,684 (+)NCBIGRCm39GRCm39mm39
JBrowse: View Region in Genome Browser (JBrowse)
Model


PMID:32912294  



.

.
Variants in LOC131388652
5 total Variants

1 to 10 of 98 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3		 pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1		 pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3		 pathogenic
NM_015368.4(PANX1):c.650G>A (p.Arg217His) single nucleotide variant not provided [RCV000234929] Chr11:94179706 [GRCh38]
Chr11:93912872 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21		 pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
1 to 10 of 98 rows

1 to 10 of 25 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
11059560Lmr12b_mleishmaniasis resistance 12b (mouse)162879281362792952Mouse
1301138Pcd4ts3_mp-glycoprotein positive CD4 T cell subset 3 (mouse)Not determined164059392374594076Mouse
1301394Eae11_msusceptibility to experimental allergic encephalomyelitis 11 (mouse)Not determined165356189187562035Mouse
26884376Skwq4_mskull length QTL 4, 5 week (mouse)16841786490896888Mouse
1302096Aod1a_mautoimmune ovarian dysgenesis 1a (mouse)Not determined163544664392573008Mouse
4141179Ipng3_mimprinted postnatal growth 3 (mouse)Not determined2277525257594076Mouse
1301719Remslp3_mrapid eye movement sleep 3 (mouse)Not determined164438335078383506Mouse
1357778Diobq_mdiet-induced obesity QTL (mouse)Not determined164219781782331174Mouse
14696806Smcl1_msmoke-mediated chord length 1 (mouse)165401530958330871Mouse
26884432Zlq7_mzygomatic length QTL 7, 10 week (mouse)16381786464620363Mouse

1 to 10 of 25 rows





RefSeq Transcripts NG_224542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC117201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
NCBI Gene LOC131388652 ENTREZGENE
PhenoGen LOC131388652 PhenoGen