LOC131296450 (STARR-seq mESC enhancer starr_02511) - Rat Genome Database

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Gene: LOC131296450 (STARR-seq mESC enhancer starr_02511) Mus musculus
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Symbol: LOC131296450
Name: STARR-seq mESC enhancer starr_02511
RGD ID: 329966273
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 C2 class enhancer that does not overlap 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
GRCm391141,301,276 - 141,302,447 (+)NCBIGRCm39GRCm39mm39
JBrowse: View Region in Genome Browser (JBrowse)
Model


PMID:32912294  



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Variants in LOC131296450
36 total Variants

1 to 10 of 27 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 copy number loss See cases [RCV000135403] Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
Single allele duplication not provided [RCV000677920] Chr19:10132458..10230550 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele duplication Autism [RCV000754212] Chr19:7981357..10019383 [GRCh38]
Chr19:19p13.2		 likely pathogenic
NM_015725.4(RDH8):c.237T>C (p.Cys79=) single nucleotide variant not provided [RCV000967495] Chr19:10017190 [GRCh38]
Chr19:10127866 [GRCh37]
Chr19:19p13.2		 benign
1 to 10 of 27 rows

1 to 10 of 55 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
1301523Ccrs1_mcorpus callosum hemisphere surface size 1 (mouse)Not determined1139602037173602216Mouse
4142014Wbcq5_mwhite blood cell quantitative locus 5 (mouse)Not determined1141095010175095156Mouse
1302161Exq2_mexploratory and excitability QTL 2 (mouse)Not determined1118099720152099816Mouse
27226779Tibl1_mtibia length 1, 5 week (mouse)195527725162027569Mouse
14746980Manh50_mmandible shape 50 (mouse)1134131564168131564Mouse
10412185Hcs9_mhepatocarcinogenesis susceptibility 9 (mouse)Not determined163854690189303617Mouse
13824984Twq5_mtestis weight QTL 5 (mouse)13069992184732197Mouse
1301149Lrnx12_mlearning-contextual 12 (mouse)Not determined1112008822168186402Mouse
4141233Femwf12_mfemur work to failure 12 (mouse)Not determined141233173175233272Mouse

1 to 10 of 55 rows





RefSeq Transcripts NG_204862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC109806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
NCBI Gene LOC131296450 ENTREZGENE
PhenoGen LOC131296450 PhenoGen