LOC112552155 (Sharpr-MPRA regulatory region 14970) - Rat Genome Database

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Gene: LOC112552155 (Sharpr-MPRA regulatory region 14970) Homo sapiens
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Symbol: LOC112552155
Name: Sharpr-MPRA regulatory region 14970
RGD ID: 38609904
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 enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). It also displayed weak repressive activity by Sharpr-MPRA in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations). [provided by RefSeq, Jun 2018]
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
GRCh381943,784,417 - 43,784,711 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371944,288,569 - 44,288,863 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19qNCBI
T2T-CHM13v2.01946,607,266 - 46,607,560 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3 copy number gain See cases [RCV000054151] Chr19:43338231..43853163 [GRCh38]
Chr19:43842383..44357315 [GRCh37]
Chr19:48534223..49049155 [NCBI36]
Chr19:19q13.31		 uncertain significance
Single allele duplication Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31		 likely pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112552155 COSMIC
GTEx LOC112552155 GTEx
Human Proteome Map LOC112552155 Human Proteome Map
NCBI Gene LOC112552155 ENTREZGENE