LOC131341537 (STARR-seq mESC enhancer starr_13821) - Rat Genome Database

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Gene: LOC131341537 (STARR-seq mESC enhancer starr_13821) Mus musculus
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Symbol: LOC131341537
Name: STARR-seq mESC enhancer starr_13821
RGD ID: 329963130
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
GRCm395104,254,667 - 104,258,841 (+)NCBIGRCm39GRCm39mm39
JBrowse: View Region in Genome Browser (JBrowse)
Model


PMID:32912294  



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Variants in LOC131341537
199 total Variants

1 to 10 of 68 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 copy number loss See cases [RCV000134211] Chr1:1118636..4179080 [GRCh38]
Chr1:1054016..4239140 [GRCh37]
Chr1:1043879..4139000 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1 copy number loss See cases [RCV000050857] Chr1:844347..3006252 [GRCh38]
Chr1:779727..2922816 [GRCh37]
Chr1:769590..2912676 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1 copy number loss See cases [RCV000134055] Chr1:844353..2420916 [GRCh38]
Chr1:779733..2352355 [GRCh37]
Chr1:769596..2342215 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 copy number loss See cases [RCV000133943] Chr1:844347..6916587 [GRCh38]
Chr1:779727..6976647 [GRCh37]
Chr1:769590..6899234 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 copy number loss See cases [RCV000050882] Chr1:844347..3712147 [GRCh38]
Chr1:779727..3628711 [GRCh37]
Chr1:769590..3618571 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 copy number loss See cases [RCV000050752] Chr1:844347..2627474 [GRCh38]
Chr1:779727..2558913 [GRCh37]
Chr1:769590..2548773 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
Single allele deletion Chromosome 1p36 deletion syndrome [RCV002247723] Chr1:817861..1836133 [GRCh38]
Chr1:1p36.33
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 copy number gain See cases [RCV000133658] Chr1:911300..3614487 [GRCh38]
Chr1:846680..3531051 [GRCh37]
Chr1:836543..3520911 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1 copy number loss See cases [RCV000050647] Chr1:844347..3319395 [GRCh38]
Chr1:779727..3235959 [GRCh37]
Chr1:769590..3225819 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 copy number gain See cases [RCV000134750] Chr1:844353..5827192 [GRCh38]
Chr1:779733..5887252 [GRCh37]
Chr1:769596..5809839 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
1 to 10 of 68 rows

1 to 10 of 57 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
10045978Tir10_mtrypanosome infection response 10 (mouse)Not determined598019649114021986Mouse
1301399Cpfd3_mcerebellum pattern fissures (mouse)Not determined587386871121387065Mouse
25314310Syncl4_msynaptonemal complex length 4 (mouse)5103047866115538059Mouse
1301524Lmb2_mlupus in MRL and B6 F2 cross (mouse)Not determined537581488112465722Mouse
25314315Mlh1fc4_mMLH1 foci count 4 (mouse)574460661132528839Mouse
1357725Eae39_mexperimental allergic encephalomyelitis 39 (mouse)Not determined589418876118864028Mouse
14746986Manh58_mmandible shape 58 (mouse)5102446283136446283Mouse
10045972Tir5_mtrypanosome infection response 5 (mouse)Not determined563705442104387065Mouse
1300993Hycdc_mhypercapnic duty cycle (mouse)Not determined590561006124561151Mouse
1301126Bwem1_mbody weight day 30 males 1 (mouse)Not determined587386871121387065Mouse

1 to 10 of 57 rows





RefSeq Transcripts NG_211096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL714024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
NCBI Gene LOC131341537 ENTREZGENE
PhenoGen LOC131341537 PhenoGen