LOC112695111 (Sharpr-MPRA regulatory region 2466) - Rat Genome Database
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Gene: LOC112695111 (Sharpr-MPRA regulatory region 2466) Homo sapiens
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Symbol: LOC112695111
Name: Sharpr-MPRA regulatory region 2466
RGD ID: 38649360
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 DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [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
GRCh382106,283,433 - 106,283,727 (+)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_060888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC114755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q12.2-12.3(chr2:106260759-107904531)x1 copy number loss See cases [RCV000051289] Chr2:106260759..107904531 [GRCh38]
Chr2:106877215..108520987 [GRCh37]
Chr2:106243647..107887419 [NCBI36]
Chr2:2q12.2-12.3
uncertain significance
GRCh38/hg38 2q12.2-12.3(chr2:106170872-106809420)x3 copy number gain See cases [RCV000142302] Chr2:106170872..106809420 [GRCh38]
Chr2:106787328..107425876 [GRCh37]
Chr2:106153760..106792308 [NCBI36]
Chr2:2q12.2-12.3
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 2q12.2-12.3(chr2:106261594-107786796)x1 copy number loss See cases [RCV000051290] Chr2:106261594..107786796 [GRCh38]
Chr2:106878050..108403252 [GRCh37]
Chr2:106244482..107769684 [NCBI36]
Chr2:2q12.2-12.3
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 2q12.2-12.3(chr2:105828398-108080417)x3 copy number gain See cases [RCV000052691] Chr2:105828398..108080417 [GRCh38]
Chr2:106444854..108696873 [GRCh37]
Chr2:105811286..108063305 [NCBI36]
Chr2:2q12.2-12.3
uncertain significance
GRCh38/hg38 2q12.2-12.3(chr2:106261594-107166471)x3 copy number gain See cases [RCV000141079] Chr2:106261594..107166471 [GRCh38]
Chr2:106878050..107782927 [GRCh37]
Chr2:106244482..107149359 [NCBI36]
Chr2:2q12.2-12.3
likely benign
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 copy number gain See cases [RCV000050836] Chr2:100378510..108472871 [GRCh38]
Chr2:100994972..109089327 [GRCh37]
Chr2:100361404..108455759 [NCBI36]
Chr2:2q11.2-12.3
pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3 copy number gain See cases [RCV000141445] Chr2:100478285..106498909 [GRCh38]
Chr2:101094747..107115365 [GRCh37]
Chr2:100461179..106481797 [NCBI36]
Chr2:2q11.2-12.2
uncertain significance
GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1 copy number loss See cases [RCV000135282] Chr2:104381722..107312459 [GRCh38]
Chr2:104998180..107928915 [GRCh37]
Chr2:104364612..107295347 [NCBI36]
Chr2:2q12.1-12.3
likely 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 LOC112695111 COSMIC
GTEx LOC112695111 GTEx
Human Proteome Map LOC112695111 Human Proteome Map
NCBI Gene LOC112695111 ENTREZGENE