LOC126807381 (MED14-independent group 3 enhancer GRCh37_chr5:45385335-45386534) - Rat Genome Database

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Gene: LOC126807381 (MED14-independent group 3 enhancer GRCh37_chr5:45385335-45386534) Homo sapiens
Analyze
Symbol: LOC126807381
Name: MED14-independent group 3 enhancer GRCh37_chr5:45385335-45386534
RGD ID: 153351816
Description: This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. [provided by RefSeq, Sep 2022]
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
GRCh38545,385,233 - 45,386,432 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.0545,638,982 - 45,640,183 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:35650434  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1		 pathogenic
GRCh38/hg38 5p12(chr5:45183939-45972894)x1 copy number loss See cases [RCV000054135] Chr5:45183939..45972894 [GRCh38]
Chr5:45184041..45972996 [GRCh37]
Chr5:45219798..46008753 [NCBI36]
Chr5:5p12		 uncertain significance
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p12-11(chr5:45273484-46114984)x3 copy number gain See cases [RCV000138855] Chr5:45273484..46114984 [GRCh38]
Chr5:45273586..46115086 [GRCh37]
Chr5:45309343..46150843 [NCBI36]
Chr5:5p12-11		 uncertain significance|conflicting data from submitters
NC_000005.9:g.(?_45267171)_(45696215_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000801354] Chr5:45267069..45696113 [GRCh38]
Chr5:45267171..45696215 [GRCh37]
Chr5:5p12		 uncertain significance
Single allele duplication Generalized epilepsy with febrile seizures plus, type 10 [RCV001542324] Chr5:45270314..46227325 [GRCh38]
Chr5:5p12-11		 uncertain significance
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126807381 COSMIC
GTEx LOC126807381 GTEx
Human Proteome Map LOC126807381 Human Proteome Map
NCBI Gene LOC126807381 ENTREZGENE