Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000499023 [[155456157, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471587]] [[155457836, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471460]]
ENST00000512773 [[155457583, 155457896], [155458437, 155458694]] None
ENST00000393905 [[155457662, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155470129, 155470138]] [[155457836, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155470129, 155470138]]
ENST00000506627 [[155457672, 155457896], [155458437, 155458631], [155459120, 155459234], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462088]] [[155459230, 155459234], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462088]]
ENST00000503251 [[155457751, 155457896], [155459120, 155459260], [155460256, 155460336]] [[155457795, 155457896], [155459120, 155459260], [155460256, 155460336]]
ENST00000302078 [[155457770, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468189, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471549]] [[155457836, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468189, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471460]]
ENST00000507125 [[155460165, 155460365], [155461102, 155461424]] None
ENST00000506192 [[155461822, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471544]] [[155466992, 155467075], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471460]]
ENST00000506918 [[155463109, 155463431], [155465596, 155465698], [155466987, 155467106]] None
ENST00000504341 [[155463382, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155470204, 155470293]] [[155463382, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155470204, 155470207]]
ENST00000512719 [[155467004, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471535]] None
ENST00000509975 [[155467301, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155470815, 155470924], [155471451, 155471546]] [[155470028, 155470087], [155470815, 155470924], [155471451, 155471460]]
ENST00000503751 [[155467694, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471552]] None
ENST00000515520 [[155468633, 155469005], [155469980, 155470087], [155471451, 155471548]] None
NM_002669 [[155456148, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471585]] [[155457836, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468162, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471460]]
NM_001201564 [[155456148, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468189, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471585]] [[155457836, 155457896], [155458437, 155458631], [155459120, 155459260], [155460256, 155460365], [155461102, 155461205], [155461745, 155461847], [155461936, 155462086], [155463338, 155463431], [155465596, 155465698], [155466987, 155467075], [155467274, 155467365], [155468189, 155468216], [155468862, 155469005], [155469980, 155470087], [155471451, 155471460]]
Promoter
Chrom Start End Description
chr4 155471528 155471592 CAGE_peak_1_at_PLRG1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I154552 154552400 154552600 0.69 [{'connected_gene': 'LRAT', 'score': 11.6}, {'connected_gene': 'FGG', 'score': 10.96}, {'connected_gene': 'LOC100422640', 'score': 0.77}, {'connected_gene': 'PLRG1', 'score': 0.77}]
chr4 GH04I154415 154415440 154417838 1.08 [{'connected_gene': 'PLRG1', 'score': 12.98}, {'connected_gene': 'DCHS2', 'score': 5.07}, {'connected_gene': 'GC04M154435', 'score': 0.37}, {'connected_gene': 'LOC100419960', 'score': 0.26}]
chr4 GH04I154549 154549311 154551173 1.94 [{'connected_gene': 'PLRG1', 'score': 559.42}, {'connected_gene': 'FGG', 'score': 28.25}, {'connected_gene': 'LRAT', 'score': 11.59}, {'connected_gene': 'GC04M154544', 'score': 0.44}, {'connected_gene': 'RNU6-1285P', 'score': 0.44}]
chr4 GH04I154553 154552189 154552358 0.7 [{'connected_gene': 'PLRG1', 'score': 550.77}, {'connected_gene': 'FGG', 'score': 24.9}, {'connected_gene': 'LRAT', 'score': 11.6}, {'connected_gene': 'LOC100422640', 'score': 0.77}]
chr4 GH04I154616 154616416 154618782 0.95 [{'connected_gene': 'PLRG1', 'score': 9.67}, {'connected_gene': 'FGG', 'score': 0.77}, {'connected_gene': 'LRAT', 'score': 0.44}]
chr4 GH04I154506 154506481 154507855 0.68 [{'connected_gene': 'PLRG1', 'score': 21.1}, {'connected_gene': 'RNU6-1285P', 'score': 11.41}, {'connected_gene': 'LRAT', 'score': 10.46}, {'connected_gene': 'FGA', 'score': 9.75}, {'connected_gene': 'DCHS2', 'score': 5.24}, {'connected_gene': 'LOC100128050', 'score': 0.37}]
chr4 GH04I154559 154559582 154561299 0.94 [{'connected_gene': 'FGG', 'score': 16.79}, {'connected_gene': 'PLRG1', 'score': 11.66}, {'connected_gene': 'FGB', 'score': 0.77}, {'connected_gene': 'LOC100422640', 'score': 0.44}]
chr4 GH04I154529 154529349 154530554 0.38 [{'connected_gene': 'FGB', 'score': 10.45}, {'connected_gene': 'PLRG1', 'score': 7.94}, {'connected_gene': 'LOC100128050', 'score': 0.44}, {'connected_gene': 'GC04M154544', 'score': 0.39}, {'connected_gene': 'RNU6-1285P', 'score': 0.39}]

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