LOC126859859 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:160907332-160908531) - Rat Genome Database

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Gene: LOC126859859 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:160907332-160908531) Homo sapiens
Analyze
Symbol: LOC126859859
Name: CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:160907332-160908531
RGD ID: 155227350
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 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. [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
GRCh386160,486,300 - 160,487,499 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376160,907,332 - 160,908,531 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.06161,737,608 - 161,738,807 (+)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 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27		 pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 copy number gain See cases [RCV000143618] Chr6:158585724..160899783 [GRCh38]
Chr6:159006756..161320815 [GRCh37]
Chr6:158926744..161240805 [NCBI36]
Chr6:6q25.3-26		 uncertain significance
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 copy number loss See cases [RCV000137831] Chr6:155378049..163133499 [GRCh38]
Chr6:155699183..163554531 [GRCh37]
Chr6:155740875..163474521 [NCBI36]
Chr6:6q25.3-26		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126859859 COSMIC
GTEx LOC126859859 GTEx
Human Proteome Map LOC126859859 Human Proteome Map
NCBI Gene LOC126859859 ENTREZGENE