LOC126860251 (MED14-independent group 3 enhancer GRCh37_chr7:156449836-156451035) - Rat Genome Database

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Gene: LOC126860251 (MED14-independent group 3 enhancer GRCh37_chr7:156449836-156451035) Homo sapiens
Analyze
Symbol: LOC126860251
Name: MED14-independent group 3 enhancer GRCh37_chr7:156449836-156451035
RGD ID: 155227196
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
GRCh387156,657,142 - 156,658,341 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.07157,844,857 - 157,846,056 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126860251
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
NC_000007.14:g.(?_152454659)_(158705768_?)del deletion Autism [RCV000754327] Chr7:152454659..158705768 [GRCh38]
Chr7:7q36.1-36.3		 likely pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1 copy number loss See cases [RCV000050856] Chr7:155007022..159135526 [GRCh38]
Chr7:154798732..158928217 [GRCh37]
Chr7:154429665..158620978 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1 copy number loss See cases [RCV000054190] Chr7:152332476..159296617 [GRCh38]
Chr7:152029561..159089306 [GRCh37]
Chr7:151660494..158782067 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1 copy number loss See cases [RCV000054192] Chr7:152920128..159332714 [GRCh38]
Chr7:152617213..159125404 [GRCh37]
Chr7:152248146..158818165 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1 copy number loss See cases [RCV000054191] Chr7:152918472..159307523 [GRCh38]
Chr7:152615557..159100212 [GRCh37]
Chr7:152246490..158792973 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 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
NC_000007.14:g.156350691_156939511dup duplication Triphalangeal thumb-polysyndactyly syndrome [RCV000005185] Chr7:156350691..156939511 [GRCh38]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
NM_030936.4(RNF32):c.497C>T (p.Pro166Leu) single nucleotide variant Inborn genetic diseases [RCV002864416] Chr7:156658174 [GRCh38]
Chr7:156450868 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3 copy number gain See cases [RCV000138167] Chr7:155379296..159335866 [GRCh38]
Chr7:155171991..159128556 [GRCh37]
Chr7:154864752..158821317 [NCBI36]
Chr7:7q36.3		 likely pathogenic
GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1 copy number loss See cases [RCV000141247] Chr7:155574967..159335866 [GRCh38]
Chr7:155367662..159128556 [GRCh37]
Chr7:155060423..158821317 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1 copy number loss See cases [RCV000135826] Chr7:153908499..159325876 [GRCh38]
Chr7:153605584..159118566 [GRCh37]
Chr7:153236517..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3 copy number gain See cases [RCV000139725] Chr7:152428852..159335865 [GRCh38]
Chr7:152125937..159128555 [GRCh37]
Chr7:151756870..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3 copy number gain See cases [RCV000136683] Chr7:151104277..159325876 [GRCh38]
Chr7:150801364..159118566 [GRCh37]
Chr7:150432297..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1 copy number loss See cases [RCV000135662] Chr7:155501171..159325876 [GRCh38]
Chr7:155293866..159118566 [GRCh37]
Chr7:154986627..158811327 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1 copy number loss See cases [RCV000136593] Chr7:154939710..159325876 [GRCh38]
Chr7:154731420..159118566 [GRCh37]
Chr7:154362353..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
NM_030936.4(RNF32):c.481A>G (p.Asn161Asp) single nucleotide variant Inborn genetic diseases [RCV002941807] Chr7:156658158 [GRCh38]
Chr7:156450852 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1 copy number loss See cases [RCV000142635] Chr7:155262313..159117047 [GRCh38]
Chr7:155054023..158909738 [GRCh37]
Chr7:154684956..158602499 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1 copy number loss Holoprosencephaly 3 [RCV003327714] Chr7:154446117..159206757 [GRCh38]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1 copy number loss See cases [RCV000136143] Chr7:152860576..159325876 [GRCh38]
Chr7:152557661..159118566 [GRCh37]
Chr7:152188594..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1 copy number loss See cases [RCV000136940] Chr7:152807205..159325876 [GRCh38]
Chr7:152504290..159118566 [GRCh37]
Chr7:152135223..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1 copy number loss See cases [RCV000136125] Chr7:151378879..158923762 [GRCh38]
Chr7:151075965..158716453 [GRCh37]
Chr7:150706898..158409214 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic|benign
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126860251 COSMIC
GTEx LOC126860251 GTEx
Human Proteome Map LOC126860251 Human Proteome Map
NCBI Gene LOC126860251 ENTREZGENE