LOC126859871 (MED14-independent group 3 enhancer GRCh37_chr6:162621359-162622558) - Rat Genome Database

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Gene: LOC126859871 (MED14-independent group 3 enhancer GRCh37_chr6:162621359-162622558) Homo sapiens
Analyze
Symbol: LOC126859871
Name: MED14-independent group 3 enhancer GRCh37_chr6:162621359-162622558
RGD ID: 155229113
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
GRCh386162,200,327 - 162,201,526 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.06163,563,565 - 163,564,764 (+)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
References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126859871
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004562.3(PRKN):c.413-20T>C single nucleotide variant not provided [RCV001513674]|not specified [RCV000249119] Chr6:162201272 [GRCh38]
Chr6:162622304 [GRCh37]
Chr6:6q26		 benign
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) single nucleotide variant Autosomal recessive juvenile Parkinson disease 2 [RCV000034122]|Autosomal recessive juvenile Parkinson disease 2 [RCV002490453]|not provided [RCV001516809]|not specified [RCV000252261] Chr6:162201165 [GRCh38]
Chr6:162622197 [GRCh37]
Chr6:6q26		 benign|likely benign
NM_004562.3(PRKN):c.531C>A (p.Thr177=) single nucleotide variant Autosomal recessive juvenile Parkinson disease 2 [RCV001151477]|not provided [RCV000862731] Chr6:162201134 [GRCh38]
Chr6:162622166 [GRCh37]
Chr6:6q26		 likely benign|uncertain significance
NM_004562.3(PRKN):c.413-266G>A single nucleotide variant not provided [RCV001693358] Chr6:162201518 [GRCh38]
Chr6:162622550 [GRCh37]
Chr6:6q26		 benign
NM_004562.3(PRKN):c.413-18C>T single nucleotide variant not provided [RCV002090165] Chr6:162201270 [GRCh38]
Chr6:162622302 [GRCh37]
Chr6:6q26		 likely benign
NM_004562.3(PRKN):c.522C>T (p.Leu174=) single nucleotide variant Autosomal recessive juvenile Parkinson disease 2 [RCV000387054]|not provided [RCV000527528] Chr6:162201143 [GRCh38]
Chr6:162622175 [GRCh37]
Chr6:6q26		 likely benign|uncertain significance
Single allele deletion Autosomal recessive juvenile Parkinson disease 2 [RCV000678005] Chr6:162200911..162520394 [GRCh38]
Chr6:162621943..162941426 [GRCh37]
Chr6:6q26		 likely pathogenic
NC_000006.12:g.(?_162200873)_(162544554_?)del deletion Schizophrenia [RCV000754309] Chr6:162200873..162544554 [GRCh38]
Chr6:6q26		 likely pathogenic
NC_000006.12:g.(?_162201121)_(162262775_?)del deletion not provided [RCV000805292] Chr6:162201121..162262775 [GRCh38]
Chr6:162622153..162683807 [GRCh37]
Chr6:6q26		 pathogenic
NC_000006.12:g.(?_162194743)_(162324250_?)del deletion Schizophrenia [RCV000754308] Chr6:162194743..162324250 [GRCh38]
Chr6:6q26		 likely pathogenic
NC_000006.12:g.(?_162184117)_(162211182_?)del deletion Autism [RCV000754307] Chr6:162184117..162211182 [GRCh38]
Chr6:6q26		 likely pathogenic
NC_000006.12:g.(?_162166123)_(162288233_?)del deletion Schizophrenia [RCV000754306] Chr6:162166123..162288233 [GRCh38]
Chr6:6q26		 likely pathogenic
NC_000006.12:g.(?_162151583)_(162270607_?)del deletion Schizophrenia [RCV000754304] Chr6:162151583..162270607 [GRCh38]
Chr6:6q26		 likely pathogenic
NM_004562.3(PRKN):c.413-9C>T single nucleotide variant not provided [RCV000921390] Chr6:162201261 [GRCh38]
Chr6:162622293 [GRCh37]
Chr6:6q26		 likely benign
NM_004562.3(PRKN):c.413-82C>A single nucleotide variant not provided [RCV001668932] Chr6:162201334 [GRCh38]
Chr6:162622366 [GRCh37]
Chr6:6q26		 benign
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 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27		 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 6q26(chr6:162163268-162378349)x1 copy number loss See cases [RCV000052621] Chr6:162163268..162378349 [GRCh38]
Chr6:162584300..162799381 [GRCh37]
Chr6:162504290..162719371 [NCBI36]
Chr6:6q26		 uncertain significance
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
NM_004562.3(PRKN):c.517A>G (p.Thr173Ala) single nucleotide variant not provided [RCV001318619] Chr6:162201148 [GRCh38]
Chr6:162622180 [GRCh37]
Chr6:6q26		 uncertain significance
GRCh38/hg38 6q26(chr6:162120320-162356161)x1 copy number loss See cases [RCV000134305] Chr6:162120320..162356161 [GRCh38]
Chr6:162541352..162777193 [GRCh37]
Chr6:162461342..162697183 [NCBI36]
Chr6:6q26		 benign
NC_000006.12:g.(?_162162293)_(162311859_?)del deletion Autism [RCV000754305] Chr6:162162293..162311859 [GRCh38]
Chr6:6q26		 likely pathogenic
NC_000006.12:g.(?_162088360)_(162527858_?)del deletion Schizophrenia [RCV000754301] Chr6:162088360..162527858 [GRCh38]
Chr6:6q26		 likely pathogenic
NC_000006.12:g.(?_161982200)_(162323320_?)del deletion Schizophrenia [RCV000754298] Chr6:161982200..162323320 [GRCh38]
Chr6:6q26		 likely pathogenic
NM_004562.2(PRKN):c.413-?_534+?del deletion Autosomal recessive juvenile Parkinson disease 2 [RCV000007451] Chr6:162201131..162201252 [GRCh38]
Chr6:162622163..162622284 [GRCh37]
Chr6:6q26		 pathogenic
NM_004562.3(PRKN):c.483A>T (p.Lys161Asn) single nucleotide variant Autosomal recessive juvenile Parkinson disease 2 [RCV000007459] Chr6:162201182 [GRCh38]
Chr6:162622214 [GRCh37]
Chr6:6q26		 pathogenic
GRCh38/hg38 6q26(chr6:161289959-162789916)x3 copy number gain See cases [RCV000053391] Chr6:161289959..162789916 [GRCh38]
Chr6:161710991..163210948 [GRCh37]
Chr6:161630981..163130938 [NCBI36]
Chr6:6q26		 uncertain significance
GRCh38/hg38 6q26(chr6:162195999-162693004)x1 copy number loss See cases [RCV000052622] Chr6:162195999..162693004 [GRCh38]
Chr6:162617031..163114036 [GRCh37]
Chr6:162537021..163034026 [NCBI36]
Chr6:6q26		 uncertain significance
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) single nucleotide variant Autosomal recessive juvenile Parkinson disease 2 [RCV000987812]|Autosomal recessive juvenile Parkinson disease 2 [RCV002497155]|not provided [RCV000551517] Chr6:162201207 [GRCh38]
Chr6:162622239 [GRCh37]
Chr6:6q26		 benign|likely benign
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(chr6:160359686-170608818)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 6q26(chr6:162163288-162819968)x3 copy number gain See cases [RCV000136070] Chr6:162163288..162819968 [GRCh38]
Chr6:162584320..163241000 [GRCh37]
Chr6:162504310..163160990 [NCBI36]
Chr6:6q26		 uncertain significance
NC_000006.12:g.162158041_162743641dup duplication See cases [RCV001291765] Chr6:162158041..162743641 [GRCh38]
Chr6:6q26		 uncertain significance
NM_004562.3(PRKN):c.491del (p.Val164fs) deletion Autosomal recessive juvenile Parkinson disease 2 [RCV001789789] Chr6:162201174 [GRCh38]
Chr6:162622206 [GRCh37]
Chr6:6q26		 pathogenic
NC_000006.12:g.(?_162201111)_(162201272_?)del deletion Autosomal recessive juvenile Parkinson disease 2 [RCV000530718]|not provided [RCV001853705] Chr6:162201111..162201272 [GRCh38]
Chr6:162622143..162622304 [GRCh37]
Chr6:6q26		 pathogenic|no classifications from unflagged records
NC_000006.12:g.(?_162201111)_(162262785_?)del deletion Autosomal recessive juvenile Parkinson disease 2 [RCV000542884]|not provided [RCV001853706] Chr6:162201111..162262785 [GRCh38]
Chr6:162622143..162683817 [GRCh37]
Chr6:6q26		 pathogenic|no classifications from unflagged records
NC_000006.12:g.(?_162201131)_(162443473_?)del deletion Autosomal recessive juvenile Parkinson disease 2 [RCV000461943] Chr6:162201131..162443473 [GRCh38]
Chr6:162622163..162864505 [GRCh37]
Chr6:6q26		 pathogenic
NC_000006.11:g.(?_162622143)_(163148721_?)dup duplication Autosomal recessive juvenile Parkinson disease 2 [RCV000820597]|not provided [RCV001338972] Chr6:162201111..162727689 [GRCh38]
Chr6:162622143..163148721 [GRCh37]
Chr6:6q26		 uncertain significance|no classifications from unflagged records
NM_004562.3(PRKN):c.443T>A (p.Val148Glu) single nucleotide variant not provided [RCV001304862] Chr6:162201222 [GRCh38]
Chr6:162622254 [GRCh37]
Chr6:6q26		 uncertain significance
NM_004562.2(PRKN):c.172-?_871+?del deletion Autosomal recessive juvenile Parkinson disease 2 [RCV000007450] Chr6:161785772..162262765 [GRCh38]
Chr6:162206804..162683797 [GRCh37]
Chr6:6q26		 pathogenic
NC_000006.12:g.(?_162145541)_(162226576_?)del deletion Schizophrenia [RCV000754303] Chr6:162145541..162226576 [GRCh38]
Chr6:6q26		 likely pathogenic
NC_000006.12:g.(?_162144053)_(162229459_?)del deletion Schizophrenia [RCV000754302] Chr6:162144053..162229459 [GRCh38]
Chr6:6q26		 likely pathogenic
NC_000006.12:g.(?_161966350)_(162292493_?)del deletion Schizophrenia [RCV000754297] Chr6:161966350..162292493 [GRCh38]
Chr6:6q26		 likely pathogenic
NC_000006.11:g.(?_162622153)_(162683807_?)dup duplication not provided [RCV000806571] Chr6:162201121..162262775 [GRCh38]
Chr6:162622153..162683807 [GRCh37]
Chr6:6q26		 uncertain significance
NC_000006.11:g.(?_162622163)_(162622284_?)dup duplication Autosomal recessive juvenile Parkinson disease 2 [RCV000476250] Chr6:162201131..162201252 [GRCh38]
Chr6:162622163..162622284 [GRCh37]
Chr6:6q26		 uncertain significance
NM_004562.3(PRKN):c.440A>T (p.Tyr147Phe) single nucleotide variant not provided [RCV000811453] Chr6:162201225 [GRCh38]
Chr6:162622257 [GRCh37]
Chr6:6q26		 uncertain significance
NM_004562.3(PRKN):c.477G>A (p.Pro159=) single nucleotide variant not provided [RCV001312097] Chr6:162201188 [GRCh38]
Chr6:162622220 [GRCh37]
Chr6:6q26		 likely benign
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 6q26(chr6:162184862-162273766)x1 copy number loss See cases [RCV000134321] Chr6:162184862..162273766 [GRCh38]
Chr6:162605894..162694798 [GRCh37]
Chr6:162525884..162614788 [NCBI36]
Chr6:6q26		 benign
NM_004562.3(PRKN):c.518C>T (p.Thr173Met) single nucleotide variant not provided [RCV001360217] Chr6:162201147 [GRCh38]
Chr6:162622179 [GRCh37]
Chr6:6q26		 uncertain significance
GRCh38/hg38 6q26(chr6:162155203-162356161)x1 copy number loss See cases [RCV000140316] Chr6:162155203..162356161 [GRCh38]
Chr6:162576235..162777193 [GRCh37]
Chr6:162496225..162697183 [NCBI36]
Chr6:6q26		 benign
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 6q25.3-27(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 6q26(chr6:162120320-162668371)x3 copy number gain See cases [RCV000137544] Chr6:162120320..162668371 [GRCh38]
Chr6:162541352..163089403 [GRCh37]
Chr6:162461342..163009393 [NCBI36]
Chr6:6q26		 likely benign
GRCh38/hg38 6q26(chr6:162120320-162629371)x3 copy number gain See cases [RCV000136608] Chr6:162120320..162629371 [GRCh38]
Chr6:162541352..163050403 [GRCh37]
Chr6:162461342..162970393 [NCBI36]
Chr6:6q26		 uncertain significance
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
NM_004562.3(PRKN):c.447T>C (p.Tyr149=) single nucleotide variant not provided [RCV001438939] Chr6:162201218 [GRCh38]
Chr6:162622250 [GRCh37]
Chr6:6q26		 likely benign
NM_004562.3(PRKN):c.534+10T>C single nucleotide variant not provided [RCV003088312] Chr6:162201121 [GRCh38]
Chr6:162622153 [GRCh37]
Chr6:6q26		 likely benign
NM_004562.3(PRKN):c.490G>A (p.Val164Ile) single nucleotide variant not provided [RCV002994982] Chr6:162201175 [GRCh38]
Chr6:162622207 [GRCh37]
Chr6:6q26		 uncertain significance
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26(chr6:162124839-162738363)x3 copy number gain See cases [RCV000143628] Chr6:162124839..162738363 [GRCh38]
Chr6:162545871..163159395 [GRCh37]
Chr6:162465861..163079385 [NCBI36]
Chr6:6q26		 uncertain significance
GRCh38/hg38 6q26(chr6:162086023-162820579)x3 copy number gain See cases [RCV000142610] Chr6:162086023..162820579 [GRCh38]
Chr6:162507055..163241611 [GRCh37]
Chr6:162427045..163161601 [NCBI36]
Chr6:6q26		 uncertain significance
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
NM_004562.3(PRKN):c.488G>A (p.Arg163Lys) single nucleotide variant Autosomal recessive juvenile Parkinson disease 2 [RCV002472191] Chr6:162201177 [GRCh38]
Chr6:162622209 [GRCh37]
Chr6:6q26		 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
NM_004562.3(PRKN):c.519G>A (p.Thr173=) single nucleotide variant not provided [RCV003062476] Chr6:162201146 [GRCh38]
Chr6:162622178 [GRCh37]
Chr6:6q26		 likely benign
GRCh38/hg38 6q26(chr6:161896065-162548892) copy number loss See cases [RCV003223592] Chr6:161896065..162548892 [GRCh38]
Chr6:6q26		 uncertain significance
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1 copy number loss Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003327715] Chr6:161349282..170584790 [GRCh38]
Chr6:6q26-27		 pathogenic
NM_004562.3(PRKN):c.470T>C (p.Val157Ala) single nucleotide variant Inborn genetic diseases [RCV003377263] Chr6:162201195 [GRCh38]
Chr6:162622227 [GRCh37]
Chr6:6q26		 uncertain significance
NM_004562.3(PRKN):c.507C>T (p.Cys169=) single nucleotide variant not provided [RCV003573694] Chr6:162201158 [GRCh38]
Chr6:162622190 [GRCh37]
Chr6:6q26		 likely benign
NM_004562.3(PRKN):c.486C>T (p.Leu162=) single nucleotide variant not provided [RCV003824662] Chr6:162201179 [GRCh38]
Chr6:162622211 [GRCh37]
Chr6:6q26		 likely benign
NM_004562.3(PRKN):c.460T>C (p.Cys154Arg) single nucleotide variant not provided [RCV003730072] Chr6:162201205 [GRCh38]
Chr6:162622237 [GRCh37]
Chr6:6q26		 uncertain significance
NM_004562.3(PRKN):c.463C>G (p.Gln155Glu) single nucleotide variant Inborn genetic diseases [RCV004515248] Chr6:162201202 [GRCh38]
Chr6:162622234 [GRCh37]
Chr6:6q26		 uncertain significance
NM_004562.3(PRKN):c.472C>A (p.Gln158Lys) single nucleotide variant Inborn genetic diseases [RCV004515249] Chr6:162201193 [GRCh38]
Chr6:162622225 [GRCh37]
Chr6:6q26		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126859871 COSMIC
GTEx LOC126859871 GTEx
Human Proteome Map LOC126859871 Human Proteome Map
NCBI Gene LOC126859871 ENTREZGENE