LOC131295400 (STARR-seq mESC enhancer starr_00616) - Rat Genome Database

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Gene: LOC131295400 (STARR-seq mESC enhancer starr_00616) Mus musculus
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Symbol: LOC131295400
Name: STARR-seq mESC enhancer starr_00616
RGD ID: 329967744
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 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
GRCm39135,930,917 - 35,933,921 (+)NCBIGRCm39GRCm39mm39
JBrowse: View Region in Genome Browser (JBrowse)
Model


PMID:32912294  



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Variants in LOC131295400
167 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 31 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
1301011Cplaq4_mcircadian period of locomotor activity 4 (mouse)Not determined1967344243673601Mouse
1357524W6q14_mweight 6 weeks QTL 14 (mouse)Not determined13476013873976915Mouse
1301073Orch5_mautoimmune orchitis resistance 5 (mouse)Not determined11906535153065454Mouse
1357651Lgq5_mlate growth QTL 5 (mouse)Not determined13476013873976915Mouse
1301275Sle10_msystematic lupus erythematosus susceptibility 10 (mouse)Not determined1288219436882352Mouse
11100001Col4a1m1_mcollagen, type IV, alpha 1 modifier 1 (mouse)12555019162946882Mouse
13824984Twq5_mtestis weight QTL 5 (mouse)13069992184732197Mouse
1301471Obq2_mobesity QTL 2 (mouse)Not determined1394162037941887Mouse
12880407V125Dq2_mvitamin D active form serum level QTL 2 (mouse)11933908153339081Mouse

1 to 10 of 31 rows





RefSeq Transcripts NG_203820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC122385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
NCBI Gene LOC131295400 ENTREZGENE
PhenoGen LOC131295400 PhenoGen