LOC131295617 (STARR-seq mESC enhancer starr_00975) - 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: LOC131295617 (STARR-seq mESC enhancer starr_00975) Mus musculus
Analyze
Symbol: LOC131295617
Name: STARR-seq mESC enhancer starr_00975
RGD ID: 329962393
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) and metastable (SL) 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
GRCm39156,992,279 - 56,994,535 (+)NCBIGRCm39GRCm39mm39
JBrowse: View Region in Genome Browser (JBrowse)
Model


PMID:32912294  



.

.
Variants in LOC131295617
98 total Variants

1 to 10 of 39 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1 copy number loss See cases [RCV000052568] Chr10:102243341..103929730 [GRCh38]
Chr10:104003098..105689488 [GRCh37]
Chr10:103993088..105679478 [NCBI36]
Chr10:10q24.32-24.33		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
NM_005736.3(ACTR1A):c.1017C>T (p.Ser339=) single nucleotide variant Malignant melanoma [RCV000068777] Chr10:102481143 [GRCh38]
Chr10:104240900 [GRCh37]
Chr10:104230890 [NCBI36]
Chr10:10q24.32		 not provided
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
1 to 10 of 39 rows

1 to 10 of 43 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
11039528Ccc3_mcolitis susceptibility in the Collaborative Cross 3 (mouse)13680142195051546Mouse
1357524W6q14_mweight 6 weeks QTL 14 (mouse)Not determined13476013873976915Mouse
12910788Pwgrq9_mpost-weaning growth rate QTL 9 (mouse)14086800867270256Mouse
1301714Vertcling_mvertical clinging (mouse)Not determined14293803176938167Mouse
18182931Metl1_mmetabolite locus 1, pyridoxate (mouse)14127539975275399Mouse
4141305Tgq9_mtriglyceride QTL 9 (mouse)Not determined5142160585421605Mouse
1357651Lgq5_mlate growth QTL 5 (mouse)Not determined13476013873976915Mouse
12910786Pwgrq10_mpost-weaning growth rate QTL 10 (mouse)14086800867270256Mouse
11100001Col4a1m1_mcollagen, type IV, alpha 1 modifier 1 (mouse)12555019162946882Mouse
1301211Bbaa11_mB.burgdorferi-associated arthritis 11 (mouse)Not determined14888900682889210Mouse

1 to 10 of 43 rows





RefSeq Transcripts NG_204037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC101777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
NCBI Gene LOC131295617 ENTREZGENE
PhenoGen LOC131295617 PhenoGen