LOC112695114 (Sharpr-MPRA regulatory region 6940) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: LOC112695114 (Sharpr-MPRA regulatory region 6940) Homo sapiens
Analyze
Symbol: LOC112695114
Name: Sharpr-MPRA regulatory region 6940
RGD ID: 38637130
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 HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Jul 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
GRCh382109,290,933 - 109,291,227 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map2qNCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403  


Genomics


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_060891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1 copy number loss See cases [RCV000135738] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:108576764..109815045 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1 copy number loss See cases [RCV000141950] Chr2:108660713..109735214 [GRCh38]
Chr2:109277169..110492791 [GRCh37]
Chr2:108643601..109850080 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1 copy number loss See cases [RCV000134167] Chr2:107962353..109700179 [GRCh38]
Chr2:108578809..110457756 [GRCh37]
Chr2:107945241..109815045 [NCBI36]
Chr2:2q12.3-13
pathogenic|uncertain significance
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1 copy number loss See cases [RCV000051261] Chr2:108579001..109736559 [GRCh38]
Chr2:109195457..110494136 [GRCh37]
Chr2:108561889..109851425 [NCBI36]
Chr2:2q12.3-13
pathogenic
GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1 copy number loss See cases [RCV000142089] Chr2:108526866..109746741 [GRCh38]
Chr2:109143322..110504318 [GRCh37]
Chr2:108509754..109861607 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3 copy number gain See cases [RCV000136575] Chr2:108681906..109700179 [GRCh38]
Chr2:109298362..110457756 [GRCh37]
Chr2:108664794..109815045 [NCBI36]
Chr2:2q12.3-13
likely benign|uncertain significance
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic

Additional Information

Database Acc Id Source(s)
COSMIC LOC112695114 COSMIC
GTEx LOC112695114 GTEx
Human Proteome Map LOC112695114 Human Proteome Map
NCBI Gene LOC112695114 ENTREZGENE