LOC115804246 (CRISPRi-validated cis-regulatory element chr1.11646) - Rat Genome Database

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Gene: LOC115804246 (CRISPRi-validated cis-regulatory element chr1.11646) Homo sapiens
Analyze
Symbol: LOC115804246
Name: CRISPRi-validated cis-regulatory element chr1.11646
RGD ID: 38665476
Description: This genomic region represents a DNase I hypersensitive site (DHS) that was predicted to be an enhancer by the ENCODE (ENCyclopedia Of DNA Elements) project based on various combinations of H3K27 acetylation and binding of p300, GATA1 and RNA polymerase II in K562 erythroleukemia cells. It was validated as a high-confidence cis-regulatory element for the RPS6KC1 (ribosomal protein S6 kinase C1) gene on chromosome 1 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Sep 2019]
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
GRCh381213,045,207 - 213,046,165 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371213,218,549 - 213,219,507 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1qNCBI
T2T-CHM13v2.01212,288,296 - 212,289,254 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:22955616   PMID:22955617   PMID:30612741  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
NC_000001.11:g.212950566_213249878del deletion not provided [RCV000678028] Chr1:212950566..213249878 [GRCh38]
Chr1:213123908..213423221 [GRCh37]
Chr1:1q32.3
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.3(chr1:212337801-213362035) copy number loss Diaphragmatic hernia [RCV001823066] Chr1:212337801..213362035 [GRCh38]
Chr1:1q32.3
uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC115804246 COSMIC
GTEx LOC115804246 GTEx
Human Proteome Map LOC115804246 Human Proteome Map
NCBI Gene LOC115804246 ENTREZGENE