LOC113748405 (Sharpr-MPRA regulatory region 7945) - Rat Genome Database

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Gene: LOC113748405 (Sharpr-MPRA regulatory region 7945) Homo sapiens
Analyze
Symbol: LOC113748405
Name: Sharpr-MPRA regulatory region 7945
RGD ID: 38605096
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 Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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
GRCh38766,592,282 - 66,592,576 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37766,057,269 - 66,057,563 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7qNCBI
T2T-CHM13v2.0767,811,933 - 67,812,227 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:9847074   PMID:27701403   PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.21(chr7:62977012-66848675) copy number gain See cases [RCV000143449] Chr7:62977012..66848675 [GRCh38]
Chr7:62437390..66313662 [GRCh37]
Chr7:62074825..65951097 [NCBI36]
Chr7:7q11.21		 likely pathogenic
GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1 copy number loss See cases [RCV000050606] Chr7:64657050..72243063 [GRCh38]
Chr7:64117428..71708048 [GRCh37]
Chr7:63754863..71345984 [NCBI36]
Chr7:7q11.21-11.22		 pathogenic
GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3 copy number gain See cases [RCV000050687] Chr7:62570287..67823956 [GRCh38]
Chr7:62030665..67288943 [GRCh37]
Chr7:61668100..66926378 [NCBI36]
Chr7:7q11.21-11.22		 pathogenic
GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3 copy number gain See cases [RCV000053534] Chr7:53274059..68576213 [GRCh38]
Chr7:53341752..68041200 [GRCh37]
Chr7:53309246..67679136 [NCBI36]
Chr7:7p12.1-q11.22		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.21(chr7:65835271-66837033)x3 copy number gain See cases [RCV000139628] Chr7:65835271..66837033 [GRCh38]
Chr7:65300258..66302020 [GRCh37]
Chr7:64937693..65939455 [NCBI36]
Chr7:7q11.21		 likely benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC113748405 COSMIC
GTEx LOC113748405 GTEx
Human Proteome Map LOC113748405 Human Proteome Map
NCBI Gene LOC113748405 ENTREZGENE