LOC124500681 (Sharpr-MPRA regulatory region 8818) - Rat Genome Database

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Gene: LOC124500681 (Sharpr-MPRA regulatory region 8818) Homo sapiens
Analyze
Symbol: LOC124500681
Name: Sharpr-MPRA regulatory region 8818
RGD ID: 151665225
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 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Mar 2022]
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
GRCh381169,699,281 - 69,699,575 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map11qNCBI
T2T-CHM13v2.01169,716,155 - 69,716,449 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403  


Genomics

Variants

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Variants in LOC124500681
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005117.3(FGF19):c.419G>A (p.Arg140His) single nucleotide variant not specified [RCV004238790] Chr11:69699494 [GRCh38]
Chr11:69514262 [GRCh37]
Chr11:11q13.3		 likely benign
NM_005117.3(FGF19):c.535C>T (p.Leu179Phe) single nucleotide variant not specified [RCV004104815] Chr11:69699378 [GRCh38]
Chr11:69514146 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_005117.3(FGF19):c.613G>A (p.Gly205Arg) single nucleotide variant not specified [RCV004196014] Chr11:69699300 [GRCh38]
Chr11:69514068 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_005117.3(FGF19):c.613G>C (p.Gly205Arg) single nucleotide variant not specified [RCV004350842] Chr11:69699300 [GRCh38]
Chr11:69514068 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_005117.3(FGF19):c.367G>A (p.Glu123Lys) single nucleotide variant not specified [RCV004337429] Chr11:69699546 [GRCh38]
Chr11:69514314 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_005117.3(FGF19):c.580A>G (p.Thr194Ala) single nucleotide variant not specified [RCV004394040] Chr11:69699333 [GRCh38]
Chr11:69514101 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_005117.3(FGF19):c.550G>A (p.Glu184Lys) single nucleotide variant not specified [RCV004181120] Chr11:69699363 [GRCh38]
Chr11:69514131 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 copy number loss See cases [RCV000142138] Chr11:68031693..71593495 [GRCh38]
Chr11:67799160..71304541 [GRCh37]
Chr11:67555736..70982189 [NCBI36]
Chr11:11q13.2-13.4		 likely pathogenic
NM_005117.3(FGF19):c.347C>G (p.Ser116Trp) single nucleotide variant not specified [RCV004176329] Chr11:69699566 [GRCh38]
Chr11:69514334 [GRCh37]
Chr11:11q13.3		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC124500681 COSMIC
GTEx LOC124500681 GTEx
Human Proteome Map LOC124500681 Human Proteome Map
NCBI Gene LOC124500681 ENTREZGENE