LOC112163539 (Sharpr-MPRA regulatory region 4504) - Rat Genome Database

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Gene: LOC112163539 (Sharpr-MPRA regulatory region 4504) Homo sapiens
Analyze
Symbol: LOC112163539
Name: Sharpr-MPRA regulatory region 4504
RGD ID: 38660457
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 22:ReprW, weaker Polycomb repression) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Mar 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
GRCh3812124,636,243 - 124,636,537 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712125,120,789 - 125,121,083 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map12qNCBI
T2T-CHM13v2.012124,641,514 - 124,641,808 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1 copy number loss See cases [RCV000051345] Chr12:122985202..130714574 [GRCh38]
Chr12:123469749..131199119 [GRCh37]
Chr12:122035702..129765072 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3 copy number gain See cases [RCV000051151] Chr12:123444758..133191400 [GRCh38]
Chr12:123929305..133767986 [GRCh37]
Chr12:122495258..132278059 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 copy number loss See cases [RCV000142454] Chr12:120718786..127500215 [GRCh38]
Chr12:121156589..127984760 [GRCh37]
Chr12:119640972..126550713 [NCBI36]
Chr12:12q24.31-24.32		 pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1 copy number loss See cases [RCV000143250] Chr12:121917758..127802717 [GRCh38]
Chr12:122355664..128287262 [GRCh37]
Chr12:120840047..126853215 [NCBI36]
Chr12:12q24.31-24.32		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 copy number gain See cases [RCV000135535] Chr12:123509825..133191400 [GRCh38]
Chr12:123994372..133767986 [GRCh37]
Chr12:122560325..132278059 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112163539 COSMIC
GTEx LOC112163539 GTEx
Human Proteome Map LOC112163539 Human Proteome Map
NCBI Gene LOC112163539 ENTREZGENE