LOC109280165 (CRE16 enhancer upstream of TBX5) - Rat Genome Database

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Gene: LOC109280165 (CRE16 enhancer upstream of TBX5) Homo sapiens
Analyze
Symbol: LOC109280165
Name: CRE16 enhancer upstream of TBX5
RGD ID: 38668667
Description: This region represents an enhancer element that drives expression of a reporter transgene in the heart. This enhancer may regulate expression of the T-box 5 gene, located approximately 10 kb downstream. [provided by RefSeq, Dec 2016]
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
GRCh3812114,415,466 - 114,420,433 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712114,853,271 - 114,858,238 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.012114,392,204 - 114,397,171 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:22543974  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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 LOC109280165 COSMIC
GTEx LOC109280165 GTEx
Human Proteome Map LOC109280165 Human Proteome Map
NCBI Gene LOC109280165 ENTREZGENE