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
ENST00000453153 [[170386258, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170394522, 170394651], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428681], [170430178, 170430383]] [[170386334, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170394522, 170394651], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428539]]
ENST00000490590 [[170386264, 170386436], [170387096, 170387211], [170387861, 170388000], [170396560, 170396627]] None
ENST00000453929 [[170386264, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428681], [170430178, 170430342]] [[170386334, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428539]]
ENST00000495505 [[170386302, 170386436], [170387096, 170387211], [170387861, 170388000], [170394522, 170394651], [170396560, 170396634]] None
ENST00000488516 [[170393511, 170393850], [170394522, 170394651]] None
ENST00000488951 [[170386341, 170386436], [170387096, 170387211], [170387861, 170388192]] None
ENST00000487293 [[170416780, 170417295], [170419734, 170419900]] None
ENST00000417376 [[170417039, 170417295], [170419734, 170419860], [170425693, 170425762], [170427513, 170427749]] [[170417039, 170417295], [170419734, 170419790]]
ENST00000438035 [[170417039, 170417295], [170419734, 170419860], [170428162, 170428681], [170430178, 170430322]] [[170417039, 170417295], [170419734, 170419860], [170428162, 170428539]]
ENST00000445210 [[170417039, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428681], [170429505, 170430385]] [[170417039, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428539]]
NM_001322046 [[170385017, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170394522, 170394651], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428681], [170429505, 170430431]] [[170386334, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170394522, 170394651], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428539]]
NM_024622 [[170385017, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170394522, 170394651], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428681], [170430178, 170430431]] [[170386334, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170394522, 170394651], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428539]]
NM_001281476 [[170385017, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428681], [170430178, 170430431]] [[170386334, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428539]]
NR_104020 [[170385017, 170386436], [170387096, 170387211], [170387861, 170388000], [170393740, 170393850], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170425693, 170425762], [170428162, 170428681], [170430178, 170430431]] None
NM_001322049 [[170385017, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170428162, 170428681], [170430178, 170430431]] [[170386334, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170428162, 170428539]]
NM_001322048 [[170385017, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170394522, 170394651], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170428162, 170428678], [170430178, 170430431]] [[170386334, 170386436], [170387096, 170387211], [170387861, 170388000], [170393736, 170393850], [170394522, 170394651], [170396560, 170396689], [170401230, 170401345], [170402727, 170403214], [170411633, 170411765], [170413696, 170413807], [170416896, 170417295], [170419734, 170419860], [170428162, 170428539]]
Promoter
Chrom Start End Description
chr2 170430277 170430361 CAGE_peak_1_at_FASTKD1_5end
chr2 170430366 170430390 CAGE_peak_3_at_FASTKD1_5end
chr2 170430400 170430429 CAGE_peak_2_at_FASTKD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I169583 169583720 169586581 2.3 [{'connected_gene': 'PPIG', 'score': 561.2}, {'connected_gene': 'GC02M169582', 'score': 550.77}, {'connected_gene': 'PHOSPHO2', 'score': 17.09}, {'connected_gene': 'FASTKD1', 'score': 15.88}, {'connected_gene': 'CCDC173', 'score': 15.67}, {'connected_gene': 'SSB', 'score': 5.45}, {'connected_gene': 'GC02P169639', 'score': 0.23}]
chr2 GH02I169572 169572600 169574540 2.28 [{'connected_gene': 'FASTKD1', 'score': 569.63}, {'connected_gene': 'PHOSPHO2', 'score': 9.01}, {'connected_gene': 'KLHL23', 'score': 5.32}, {'connected_gene': 'GC02M169527', 'score': 0.25}]
chr2 GH02I169682 169682510 169684235 0.92 [{'connected_gene': 'FASTKD1', 'score': 17.17}, {'connected_gene': 'PHOSPHO2', 'score': 11.6}, {'connected_gene': 'CYB5AP2', 'score': 11.12}, {'connected_gene': 'SSB', 'score': 11.12}, {'connected_gene': 'GC02M169688', 'score': 0.44}, {'connected_gene': 'CCDC173', 'score': 0.39}, {'connected_gene': 'LOC100421474', 'score': 0.34}]
chr2 GH02I169715 169715149 169717971 1.71 [{'connected_gene': 'PHOSPHO2', 'score': 567.58}, {'connected_gene': 'FASTKD1', 'score': 18.42}, {'connected_gene': 'CCDC173', 'score': 15.24}, {'connected_gene': 'ENSG00000229827', 'score': 5.66}, {'connected_gene': 'GC02P169728', 'score': 0.39}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.34}, {'connected_gene': 'KLHL23', 'score': 0.34}]
chr2 GH02I169693 169693439 169696187 2.07 [{'connected_gene': 'PHOSPHO2', 'score': 568.83}, {'connected_gene': 'CCDC173', 'score': 566.82}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 550.77}, {'connected_gene': 'KLHL23', 'score': 550.77}, {'connected_gene': 'FASTKD1', 'score': 17.17}, {'connected_gene': 'SSB', 'score': 5.59}, {'connected_gene': 'GC02P169728', 'score': 0.29}]
chr2 GH02I169826 169826831 169829413 2.33 [{'connected_gene': 'UBR3', 'score': 557.02}, {'connected_gene': 'METTL5', 'score': 6.84}, {'connected_gene': 'FASTKD1', 'score': 4.88}, {'connected_gene': 'MYO3B', 'score': 4.82}, {'connected_gene': 'PPIG', 'score': 3.78}, {'connected_gene': 'PHOSPHO2', 'score': 2.04}, {'connected_gene': 'CCDC173', 'score': 1.81}, {'connected_gene': 'GC02P169866', 'score': 0.28}]
chr2 GH02I169477 169477886 169480600 2.04 [{'connected_gene': 'BBS5', 'score': 550.77}, {'connected_gene': 'ENSG00000251569', 'score': 550.77}, {'connected_gene': 'PHOSPHO2', 'score': 9.78}, {'connected_gene': 'FASTKD1', 'score': 9.4}, {'connected_gene': 'KLHL23', 'score': 5.38}]
chr2 GH02I169507 169507039 169514924 1.82 [{'connected_gene': 'KLHL41', 'score': 550.77}, {'connected_gene': 'BBS5', 'score': 18.83}, {'connected_gene': 'PPIG', 'score': 17.63}, {'connected_gene': 'CCDC173', 'score': 11.37}, {'connected_gene': 'PHOSPHO2', 'score': 7.79}, {'connected_gene': 'FASTKD1', 'score': 6.7}, {'connected_gene': 'KLHL23', 'score': 5.31}, {'connected_gene': 'GC02P169518', 'score': 0.44}, {'connected_gene': 'ENSG00000251569', 'score': 0.29}]
chr2 GH02I169528 169528331 169528500 0.97 [{'connected_gene': 'GC02M169527', 'score': 550.77}, {'connected_gene': 'GC02M169526', 'score': 550.77}, {'connected_gene': 'CYB5AP2', 'score': 11.41}, {'connected_gene': 'SSB', 'score': 11.41}, {'connected_gene': 'UBR3', 'score': 10.47}, {'connected_gene': 'METTL5', 'score': 10.47}, {'connected_gene': 'FASTKD1', 'score': 5.81}]

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