LOC112695112 (Sharpr-MPRA regulatory region 6630) - Rat Genome Database
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Gene: LOC112695112 (Sharpr-MPRA regulatory region 6630) Homo sapiens
Analyze
Symbol: LOC112695112
Name: Sharpr-MPRA regulatory region 6630
RGD ID: 38664624
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 17:Gen3', transcription 3' end of genes, highly expressed; more exonic) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - 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
GRCh382108,662,173 - 108,662,467 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map2qNCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:27701403  


Genomics


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_060889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010095 (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 2q12.3-13(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 2q12.2-13(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(chr2:107962353-109700179)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 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(chr2:108579001-109736559)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 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
Single allele duplication Neuronopathy, distal hereditary motor, type viia [RCV000534213] Chr2:107988136..108963283 [GRCh38]
Chr2:2q12.3-13		 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 2q12.2-14.1(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 2q11.1-13(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 LOC112695112 COSMIC
GTEx LOC112695112 GTEx
Human Proteome Map LOC112695112 Human Proteome Map
NCBI Gene LOC112695112 ENTREZGENE