LOC126653331 (BRD4-independent group 4 enhancer GRCh37_chr21:27511930-27513129) - Rat Genome Database

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Gene: LOC126653331 (BRD4-independent group 4 enhancer GRCh37_chr21:27511930-27513129) Homo sapiens
Analyze
Symbol: LOC126653331
Name: BRD4-independent group 4 enhancer GRCh37_chr21:27511930-27513129
RGD ID: 153351084
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 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. [provided by RefSeq, Aug 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
GRCh382126,139,612 - 26,140,811 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372127,511,930 - 27,513,129 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.02124,497,751 - 24,498,950 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126653331
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000484.4(APP):c.58-27857A>G single nucleotide variant not provided [RCV001534119] Chr21:26140003 [GRCh38]
Chr21:27512321 [GRCh37]
Chr21:21q21.3		 benign
NM_000484.4(APP):c.58-27864T>C single nucleotide variant not provided [RCV001541512] Chr21:26140010 [GRCh38]
Chr21:27512328 [GRCh37]
Chr21:21q21.3		 benign
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 copy number loss See cases [RCV000052799] Chr21:14000720..30903065 [GRCh38]
Chr21:15373041..32275384 [GRCh37]
Chr21:14294912..31197255 [NCBI36]
Chr21:21q11.2-22.11		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_000484.4(APP):c.58-27859T>C single nucleotide variant not provided [RCV001686703] Chr21:26140005 [GRCh38]
Chr21:27512323 [GRCh37]
Chr21:21q21.3		 benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_000484.4(APP):c.58-27773GTTT[9] microsatellite not provided [RCV001621734] Chr21:26139880..26139883 [GRCh38]
Chr21:27512198..27512201 [GRCh37]
Chr21:21q21.3		 benign
GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985) copy number loss Monosomy 21 [RCV000225561] Chr21:14000146..27785985 [GRCh38]
Chr21:21q11.2-21.3		 pathogenic
GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614) copy number loss Monosomy 21 [RCV000225452] Chr21:13048294..27532614 [GRCh38]
Chr21:21p11.2-q21.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_000484.4(APP):c.58-27773GTTT[8] microsatellite not provided [RCV001677123] Chr21:26139880..26139887 [GRCh38]
Chr21:27512198..27512205 [GRCh37]
Chr21:21q21.3		 benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_000484.4(APP):c.58-28119G>C single nucleotide variant not provided [RCV001669389] Chr21:26140265 [GRCh38]
Chr21:27512583 [GRCh37]
Chr21:21q21.3		 benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347) copy number loss Monosomy 21 [RCV000225665] Chr21:21754822..32380347 [GRCh38]
Chr21:21q21.1-22.11		 pathogenic
GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1 copy number loss See cases [RCV000052798] Chr21:13194345..29257208 [GRCh38]
Chr21:14566666..30629529 [GRCh37]
Chr21:13488537..29551400 [NCBI36]
Chr21:21q11.2-21.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3(chr21:26089149-26145977)x1 copy number loss See cases [RCV000137485] Chr21:26089149..26145977 [GRCh38]
Chr21:27461465..27518295 [GRCh37]
Chr21:26383336..26440166 [NCBI36]
Chr21:21q21.3		 uncertain significance
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1 copy number loss See cases [RCV000138937] Chr21:22270514..27695129 [GRCh38]
Chr21:23642834..29067448 [GRCh37]
Chr21:22564705..27989319 [NCBI36]
Chr21:21q21.1-21.3		 likely pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1 copy number loss See cases [RCV000142217] Chr21:19423169..31841150 [GRCh38]
Chr21:20795486..33213462 [GRCh37]
Chr21:19717357..32135333 [NCBI36]
Chr21:21q21.1-22.11		 pathogenic
GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1 copy number loss See cases [RCV000143749] Chr21:13634137..27862841 [GRCh38]
Chr21:15006458..29235160 [GRCh37]
Chr21:13928329..28157031 [NCBI36]
Chr21:21q11.2-21.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_000484.4(APP):c.58-28004_58-28001del deletion not provided [RCV003440525] Chr21:26140147..26140150 [GRCh38]
Chr21:27512465..27512468 [GRCh37]
Chr21:21q21.3		 uncertain significance
NC_000021.9:g.(25431701_?)_(?_26466216)dup duplication Alzheimer disease, early-onset, with cerebral amyloid angiopathy [RCV000019732] Chr21:25431701..26466216 [GRCh38]
Chr21:21q21.2-21.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2303081MAMTS49_HMammary tumor susceptibility QTL 49 (human)1.72Mammary tumor susceptibility211795044843950448Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126653331 COSMIC
GTEx LOC126653331 GTEx
Human Proteome Map LOC126653331 Human Proteome Map
NCBI Gene LOC126653331 ENTREZGENE