LOC108004521 (heart enhancer 20) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: LOC108004521 (heart enhancer 20) Homo sapiens
Analyze
Symbol: LOC108004521
Name: heart enhancer 20
RGD ID: 38631020
Description: This genomic region is located approximately 25 kb downstream of the frizzled class receptor 1 (FZD1) gene. It was predicted to be a heart enhancer based on a classifier that assesses the presence and/or absence of various features implicated in heart development, including transcription factor binding sites. It was validated as a functional heart enhancer in a zebrafish in vivo reporter assay. [provided by RefSeq, Jun 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
GRCh38791,294,139 - 91,296,144 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37790,923,454 - 90,925,459 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7qNCBI
T2T-CHM13v2.0792,541,982 - 92,543,987 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:12853948   PMID:20075146  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1 copy number loss See cases [RCV000139869] Chr7:87379476..91731873 [GRCh38]
Chr7:87008792..91361188 [GRCh37]
Chr7:86846728..91199124 [NCBI36]
Chr7:7q21.12-21.2
likely pathogenic|uncertain significance
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 copy number loss See cases [RCV000143271] Chr7:84002634..95228883 [GRCh38]
Chr7:83631950..94858195 [GRCh37]
Chr7:83469886..94696131 [NCBI36]
Chr7:7q21.11-21.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC108004521 COSMIC
GTEx LOC108004521 GTEx
Human Proteome Map LOC108004521 Human Proteome Map
NCBI Gene LOC108004521 ENTREZGENE