LOC123480920 (Sharpr-MPRA regulatory region 13729) - Rat Genome Database

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Gene: LOC123480920 (Sharpr-MPRA regulatory region 13729) Homo sapiens
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Symbol: LOC123480920
Name: Sharpr-MPRA regulatory region 13729
RGD ID: 150526098
Description: This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 16:ElonW, transcriptional elongation, weaker H3K36me3). [provided by RefSeq, Nov 2021]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384113,593,453 - 113,593,747 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374114,514,609 - 114,514,903 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map4qNCBI
T2T-CHM13v2.04116,902,191 - 116,902,485 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
aniridia  (IAGP)

References
Additional References at PubMed
PMID:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000004.10:g.111994000_115504000del3510001 deletion Congenital aniridia [RCV000257787] Chr4:110853395..114363395 [GRCh38]
Chr4:111774551..115284551 [GRCh37]
Chr4:111994000..115504000 [NCBI36]
Chr4:4q25-26		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1 copy number loss See cases [RCV000134955] Chr4:111069785..116691879 [GRCh38]
Chr4:111990941..117613035 [GRCh37]
Chr4:112210390..117832483 [NCBI36]
Chr4:4q25-26		 likely pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643256BW127_HBody Weight QTL 127 (human)1.310.007Body weightbody mass index4106319694132319694Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC123480920 COSMIC
GTEx LOC123480920 GTEx
Human Proteome Map LOC123480920 Human Proteome Map
NCBI Gene LOC123480920 ENTREZGENE