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
ENST00000369733 [[105791043, 105792048], [105792431, 105792512], [105792663, 105792726], [105792995, 105793133], [105793702, 105794092], [105794378, 105794525], [105795231, 105795321], [105796249, 105796390], [105796802, 105796871], [105797393, 105797531], [105798163, 105798286], [105798828, 105798879], [105800108, 105800168], [105800822, 105800876], [105801060, 105801102], [105801242, 105801296], [105802177, 105802213], [105803258, 105803339], [105803582, 105803618], [105805515, 105805551], [105806504, 105806531], [105807496, 105807568], [105807826, 105807862], [105809166, 105809229], [105809846, 105809882], [105810378, 105810414], [105810605, 105810659], [105811238, 105811274], [105811912, 105811975], [105812788, 105812893], [105813677, 105813740], [105813849, 105813876], [105814738, 105814765], [105815129, 105815159], [105815539, 105815761], [105816732, 105816930], [105817903, 105817948], [105819395, 105819476], [105819876, 105820038], [105821162, 105821231], [105822015, 105822087], [105823504, 105823576], [105824195, 105824354], [105830183, 105830327], [105831789, 105831837], [105832967, 105833003], [105833941, 105833989], [105836058, 105836187], [105837179, 105837284], [105838299, 105838344], [105840379, 105840442], [105845480, 105845760]] [[105791992, 105792048], [105792431, 105792512], [105792663, 105792726], [105792995, 105793133], [105793702, 105794092], [105794378, 105794525], [105795231, 105795321], [105796249, 105796390], [105796802, 105796871], [105797393, 105797531], [105798163, 105798286], [105798828, 105798879], [105800108, 105800168], [105800822, 105800876], [105801060, 105801102], [105801242, 105801296], [105802177, 105802213], [105803258, 105803339], [105803582, 105803618], [105805515, 105805551], [105806504, 105806531], [105807496, 105807568], [105807826, 105807862], [105809166, 105809229], [105809846, 105809882], [105810378, 105810414], [105810605, 105810659], [105811238, 105811274], [105811912, 105811975], [105812788, 105812893], [105813677, 105813740], [105813849, 105813876], [105814738, 105814765], [105815129, 105815159], [105815539, 105815761], [105816732, 105816930], [105817903, 105817948], [105819395, 105819476], [105819876, 105820038], [105821162, 105821231], [105822015, 105822087], [105823504, 105823576], [105824195, 105824354], [105830183, 105830327], [105831789, 105831837], [105832967, 105833003], [105833941, 105833989], [105836058, 105836187], [105837179, 105837284], [105838299, 105838344], [105840379, 105840431]]
ENST00000353479 [[105791043, 105792048], [105792431, 105792512], [105792663, 105792726], [105792995, 105793133], [105793702, 105794092], [105794378, 105794525], [105795020, 105795131], [105795231, 105795321], [105796249, 105796390], [105796802, 105796871], [105797393, 105797531], [105798163, 105798286], [105798828, 105798879], [105799202, 105799277], [105799365, 105799398], [105799730, 105799757], [105800108, 105800168], [105800822, 105800876], [105801060, 105801102], [105801242, 105801296], [105802177, 105802213], [105803258, 105803339], [105803582, 105803618], [105805515, 105805551], [105806504, 105806531], [105807496, 105807568], [105807826, 105807862], [105809166, 105809229], [105809846, 105809882], [105810378, 105810414], [105810605, 105810659], [105811238, 105811274], [105811912, 105811975], [105812788, 105812893], [105813677, 105813740], [105813849, 105813876], [105814738, 105814765], [105815129, 105815159], [105815539, 105815761], [105816732, 105816930], [105817903, 105817948], [105819395, 105819476], [105819876, 105820038], [105821162, 105821231], [105822015, 105822087], [105823504, 105823576], [105824195, 105824354], [105830183, 105830327], [105831789, 105831837], [105832967, 105833003], [105833941, 105833989], [105836058, 105836187], [105837179, 105837284], [105838299, 105838344], [105840379, 105840442], [105845480, 105845760]] [[105791992, 105792048], [105792431, 105792512], [105792663, 105792726], [105792995, 105793133], [105793702, 105794092], [105794378, 105794525], [105795020, 105795131], [105795231, 105795321], [105796249, 105796390], [105796802, 105796871], [105797393, 105797531], [105798163, 105798286], [105798828, 105798879], [105799202, 105799277], [105799365, 105799398], [105799730, 105799757], [105800108, 105800168], [105800822, 105800876], [105801060, 105801102], [105801242, 105801296], [105802177, 105802213], [105803258, 105803339], [105803582, 105803618], [105805515, 105805551], [105806504, 105806531], [105807496, 105807568], [105807826, 105807862], [105809166, 105809229], [105809846, 105809882], [105810378, 105810414], [105810605, 105810659], [105811238, 105811274], [105811912, 105811975], [105812788, 105812893], [105813677, 105813740], [105813849, 105813876], [105814738, 105814765], [105815129, 105815159], [105815539, 105815761], [105816732, 105816930], [105817903, 105817948], [105819395, 105819476], [105819876, 105820038], [105821162, 105821231], [105822015, 105822087], [105823504, 105823576], [105824195, 105824354], [105830183, 105830327], [105831789, 105831837], [105832967, 105833003], [105833941, 105833989], [105836058, 105836187], [105837179, 105837284], [105838299, 105838344], [105840379, 105840431]]
ENST00000433822 [[105791045, 105791351], [105791961, 105792048], [105792431, 105792512], [105792663, 105792726]] [[105791992, 105792048], [105792431, 105792512], [105792663, 105792726]]
ENST00000480127 [[105814933, 105815159], [105815539, 105815733]] None
ENST00000393211 [[105819074, 105819476], [105819876, 105820038], [105821162, 105821231], [105822015, 105822087], [105823504, 105823576], [105824195, 105824354], [105830183, 105830327], [105831789, 105831837], [105832967, 105833003], [105833941, 105833989], [105836058, 105836187], [105837179, 105837284], [105838299, 105838344], [105840379, 105840442], [105845480, 105845536]] [[105819363, 105819476], [105819876, 105820038], [105821162, 105821231], [105822015, 105822087], [105823504, 105823576], [105824195, 105824354], [105830183, 105830327], [105831789, 105831837], [105832967, 105833003], [105833941, 105833989], [105836058, 105836187], [105837179, 105837284], [105838299, 105838344], [105840379, 105840431]]
ENST00000488320 [[105819442, 105819476], [105819876, 105820038], [105821162, 105821231], [105822015, 105822087], [105823295, 105823401], [105823504, 105823576], [105824195, 105824306]] None
ENST00000483876 [[105830218, 105830327], [105831789, 105831837], [105832967, 105833003], [105833708, 105833777], [105833941, 105833989], [105836058, 105836187], [105837179, 105837284], [105838299, 105838344], [105840379, 105840412]] None
NM_000494 [[105791045, 105792048], [105792431, 105792512], [105792663, 105792726], [105792995, 105793133], [105793702, 105794092], [105794378, 105794525], [105795020, 105795131], [105795231, 105795321], [105796249, 105796390], [105796802, 105796871], [105797393, 105797531], [105798163, 105798286], [105798828, 105798879], [105799202, 105799277], [105799365, 105799398], [105799730, 105799757], [105800108, 105800168], [105800822, 105800876], [105801060, 105801102], [105801242, 105801296], [105802177, 105802213], [105803258, 105803339], [105803582, 105803618], [105805515, 105805551], [105806504, 105806531], [105807496, 105807568], [105807826, 105807862], [105809166, 105809229], [105809846, 105809882], [105810378, 105810414], [105810605, 105810659], [105811238, 105811274], [105811912, 105811975], [105812788, 105812893], [105813677, 105813740], [105813849, 105813876], [105814738, 105814765], [105815129, 105815159], [105815539, 105815761], [105816732, 105816930], [105817903, 105817948], [105819395, 105819476], [105819876, 105820038], [105821162, 105821231], [105822015, 105822087], [105823504, 105823576], [105824195, 105824354], [105830183, 105830327], [105831789, 105831837], [105832967, 105833003], [105833941, 105833989], [105836058, 105836187], [105837179, 105837284], [105838299, 105838344], [105840379, 105840442], [105845480, 105845638]] [[105791992, 105792048], [105792431, 105792512], [105792663, 105792726], [105792995, 105793133], [105793702, 105794092], [105794378, 105794525], [105795020, 105795131], [105795231, 105795321], [105796249, 105796390], [105796802, 105796871], [105797393, 105797531], [105798163, 105798286], [105798828, 105798879], [105799202, 105799277], [105799365, 105799398], [105799730, 105799757], [105800108, 105800168], [105800822, 105800876], [105801060, 105801102], [105801242, 105801296], [105802177, 105802213], [105803258, 105803339], [105803582, 105803618], [105805515, 105805551], [105806504, 105806531], [105807496, 105807568], [105807826, 105807862], [105809166, 105809229], [105809846, 105809882], [105810378, 105810414], [105810605, 105810659], [105811238, 105811274], [105811912, 105811975], [105812788, 105812893], [105813677, 105813740], [105813849, 105813876], [105814738, 105814765], [105815129, 105815159], [105815539, 105815761], [105816732, 105816930], [105817903, 105817948], [105819395, 105819476], [105819876, 105820038], [105821162, 105821231], [105822015, 105822087], [105823504, 105823576], [105824195, 105824354], [105830183, 105830327], [105831789, 105831837], [105832967, 105833003], [105833941, 105833989], [105836058, 105836187], [105837179, 105837284], [105838299, 105838344], [105840379, 105840431]]
Promoter
Chrom Start End Description
chr10 105791560 105791576 CAGE_peak_7_at_COL17A1_5end
chr10 105824310 105824328 CAGE_peak_12_at_COL17A1_5end
chr10 105845551 105845581 CAGE_peak_2_at_COL17A1_5end
chr10 105845611 105845645 CAGE_peak_1_at_COL17A1_5end
chr10 105845674 105845722 CAGE_peak_3_at_COL17A1_5end
chr10 105845923 105845943 CAGE_peak_6_at_COL17A1_5end
chr10 105845952 105845992 CAGE_peak_4_at_COL17A1_5end
chr10 105846063 105846083 CAGE_peak_5_at_COL17A1_5end
chr10 105846145 105846168 CAGE_peak_8_at_COL17A1_5end
chr10 105846203 105846233 CAGE_peak_9_at_COL17A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I103892 103892293 103897049 1.54 [{'connected_gene': 'STN1', 'score': 17.12}, {'connected_gene': 'SLK', 'score': 15.97}, {'connected_gene': 'SH3PXD2A', 'score': 11.45}, {'connected_gene': 'MIR936', 'score': 10.69}, {'connected_gene': 'COL17A1', 'score': 10.54}, {'connected_gene': 'GC10M103885', 'score': 0.77}]
chr10 GH10I103986 103986401 103986692 0.58 [{'connected_gene': 'STN1', 'score': 11.13}, {'connected_gene': 'COL17A1', 'score': 9.86}, {'connected_gene': 'GSTO1', 'score': 5.79}, {'connected_gene': 'RN7SL524P', 'score': 0.39}, {'connected_gene': 'SLK', 'score': 0.37}, {'connected_gene': 'MIR936', 'score': 0.21}]
chr10 GH10I103982 103982736 103984599 0.79 [{'connected_gene': 'STN1', 'score': 11.47}, {'connected_gene': 'COL17A1', 'score': 8.68}, {'connected_gene': 'RN7SL524P', 'score': 0.44}, {'connected_gene': 'SLK', 'score': 0.37}, {'connected_gene': 'MIR936', 'score': 0.21}]
chr10 GH10I104066 104066948 104068000 0.76 [{'connected_gene': 'CFAP58', 'score': 4.96}, {'connected_gene': 'GC10M104086', 'score': 0.37}, {'connected_gene': 'GC10M104085', 'score': 0.37}, {'connected_gene': 'COL17A1', 'score': 0.37}, {'connected_gene': 'MIR936', 'score': 0.37}]
chr10 GH10I104080 104080340 104087035 1.5 [{'connected_gene': 'COL17A1', 'score': 550.77}, {'connected_gene': 'CFAP43', 'score': 6.34}, {'connected_gene': 'CFAP58', 'score': 5.05}, {'connected_gene': 'GC10M104086', 'score': 0.77}, {'connected_gene': 'GC10M104085', 'score': 0.77}, {'connected_gene': 'MIR936', 'score': 0.28}]
chr10 GH10I104060 104059383 104059592 0.54 [{'connected_gene': 'COL17A1', 'score': 11.04}, {'connected_gene': 'SFR1', 'score': 10.27}, {'connected_gene': 'SLK', 'score': 9.89}, {'connected_gene': 'MIR936', 'score': 0.39}, {'connected_gene': 'GC10M104086', 'score': 0.31}, {'connected_gene': 'GC10M104085', 'score': 0.31}]
chr10 GH10I104051 104051017 104055681 0.49 [{'connected_gene': 'COL17A1', 'score': 11.33}, {'connected_gene': 'SFR1', 'score': 10.8}, {'connected_gene': 'CFAP43', 'score': 8.51}, {'connected_gene': 'GSTO2', 'score': 6.03}, {'connected_gene': 'MIR936', 'score': 0.44}, {'connected_gene': 'GC10M104086', 'score': 0.29}, {'connected_gene': 'GC10M104085', 'score': 0.29}]
chr10 GH10I104045 104045543 104045712 0.52 [{'connected_gene': 'COL17A1', 'score': 4.47}, {'connected_gene': 'MIR936', 'score': 0.77}, {'connected_gene': 'RN7SL524P', 'score': 0.19}]
chr10 GH10I104059 104059883 104059895 0.2 [{'connected_gene': 'COL17A1', 'score': 11.04}, {'connected_gene': 'MIR936', 'score': 0.39}, {'connected_gene': 'GC10M104086', 'score': 0.31}, {'connected_gene': 'GC10M104085', 'score': 0.31}]
chr10 GH10I104089 104089674 104089971 0.48 [{'connected_gene': 'SFR1', 'score': 59.98}, {'connected_gene': 'GSTO1', 'score': 5.77}, {'connected_gene': 'CFAP58', 'score': 5.6}, {'connected_gene': 'SLK', 'score': 1.78}, {'connected_gene': 'COL17A1', 'score': 0.77}]
chr10 GH10I104115 104115399 104123672 2.48 [{'connected_gene': 'SFR1', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 13.06}, {'connected_gene': 'ENSG00000260461', 'score': 12.01}, {'connected_gene': 'MIR936', 'score': 10.71}, {'connected_gene': 'CFAP43', 'score': 7.6}, {'connected_gene': 'COL17A1', 'score': 0.29}]
chr10 GH10I104032 104032351 104032800 0.4 [{'connected_gene': 'SFR1', 'score': 10.97}, {'connected_gene': 'COL17A1', 'score': 10.2}, {'connected_gene': 'SLK', 'score': 5.83}, {'connected_gene': 'MIR936', 'score': 0.37}, {'connected_gene': 'RN7SL524P', 'score': 0.22}]
chr10 GH10I104109 104109362 104110946 1.45 [{'connected_gene': 'SFR1', 'score': 42.77}, {'connected_gene': 'COL17A1', 'score': 11.61}, {'connected_gene': 'MIR936', 'score': 11.17}, {'connected_gene': 'STN1', 'score': 10.59}, {'connected_gene': 'CFAP43', 'score': 8.04}, {'connected_gene': 'GSTO1', 'score': 6.52}, {'connected_gene': 'CFAP58', 'score': 5.41}, {'connected_gene': 'SLK', 'score': 1.47}]
chr10 GH10I104029 104029563 104029772 0.2 [{'connected_gene': 'SFR1', 'score': 10.96}, {'connected_gene': 'COL17A1', 'score': 10.19}, {'connected_gene': 'MIR936', 'score': 0.37}, {'connected_gene': 'RN7SL524P', 'score': 0.23}]
chr10 GH10I104098 104098763 104100157 0.72 [{'connected_gene': 'SFR1', 'score': 11.55}, {'connected_gene': 'MIR936', 'score': 10.67}, {'connected_gene': 'CFAP43', 'score': 6.43}, {'connected_gene': 'COL17A1', 'score': 0.39}]
chr10 GH10I103965 103965843 103970825 2 [{'connected_gene': 'LOC102724351', 'score': 550.77}, {'connected_gene': 'SLK', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 20.71}, {'connected_gene': 'ENSG00000260461', 'score': 18.82}, {'connected_gene': 'TAF5', 'score': 15.88}, {'connected_gene': 'STN1', 'score': 11.29}, {'connected_gene': 'PCGF6', 'score': 10.19}, {'connected_gene': 'COL17A1', 'score': 9.81}, {'connected_gene': 'GC10P103974', 'score': 0.44}]
chr10 GH10I103744 103744462 103749621 1.04 [{'connected_gene': 'SH3PXD2A-AS1', 'score': 550.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.38}, {'connected_gene': 'STN1', 'score': 10.5}, {'connected_gene': 'COL17A1', 'score': 9.35}, {'connected_gene': 'NT5C2', 'score': 4.72}, {'connected_gene': 'GSTO1', 'score': 4.63}, {'connected_gene': 'GSTO2', 'score': 4.55}]
chr10 GH10I104069 104069183 104070488 0.52 [{'connected_gene': 'MIR936', 'score': 11.57}, {'connected_gene': 'CFAP43', 'score': 6.23}, {'connected_gene': 'GSTO2', 'score': 5.74}, {'connected_gene': 'CFAP58', 'score': 5.08}, {'connected_gene': 'GC10M104086', 'score': 0.37}, {'connected_gene': 'GC10M104085', 'score': 0.37}, {'connected_gene': 'COL17A1', 'score': 0.37}]
chr10 GH10I104048 104048919 104050716 0.69 [{'connected_gene': 'MIR936', 'score': 550.77}, {'connected_gene': 'CFAP43', 'score': 7.94}, {'connected_gene': 'GSTO2', 'score': 6.34}, {'connected_gene': 'GC10M104086', 'score': 0.28}, {'connected_gene': 'GC10M104085', 'score': 0.28}, {'connected_gene': 'COL17A1', 'score': 0.28}]
chr10 GH10I104142 104142203 104142292 0.46 [{'connected_gene': 'MIR936', 'score': 10.33}, {'connected_gene': 'COL17A1', 'score': 10.26}, {'connected_gene': 'LOC751602', 'score': 0.37}, {'connected_gene': 'SFR1', 'score': 0.34}, {'connected_gene': 'CFAP43', 'score': 0.16}]
chr10 GH10I104127 104127563 104127712 0.46 [{'connected_gene': 'MIR936', 'score': 10.84}, {'connected_gene': 'COL17A1', 'score': 10.76}, {'connected_gene': 'MIR609', 'score': 10.07}, {'connected_gene': 'SFR1', 'score': 0.44}, {'connected_gene': 'LOC751602', 'score': 0.31}]
chr10 GH10I104092 104092261 104094759 1.12 [{'connected_gene': 'MIR936', 'score': 11.49}, {'connected_gene': 'SFR1', 'score': 11.07}, {'connected_gene': 'CFAP43', 'score': 6.41}, {'connected_gene': 'COL17A1', 'score': 0.44}]
chr10 GH10I103887 103887370 103891592 1.61 [{'connected_gene': 'GC10M103885', 'score': 550.77}, {'connected_gene': 'SLK', 'score': 17.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.47}, {'connected_gene': 'MIR936', 'score': 10.68}, {'connected_gene': 'ENSG00000260461', 'score': 10.08}, {'connected_gene': 'STN1', 'score': 5.01}, {'connected_gene': 'COL17A1', 'score': 2.44}, {'connected_gene': 'SFR1', 'score': 2.24}, {'connected_gene': 'GSTO2', 'score': 2.21}, {'connected_gene': 'GSTO1', 'score': 1.33}, {'connected_gene': 'PIR55313', 'score': 0.44}, {'connected_gene': 'GC10M103884', 'score': 0.44}]
chr10 GH10I103869 103869557 103873902 1.01 [{'connected_gene': 'PIR55627', 'score': 550.77}, {'connected_gene': 'STN1', 'score': 11.78}, {'connected_gene': 'SH3PXD2A', 'score': 11.47}, {'connected_gene': 'SLK', 'score': 10.77}, {'connected_gene': 'MIR936', 'score': 10.6}, {'connected_gene': 'COL17A1', 'score': 6.44}, {'connected_gene': 'GSTO2', 'score': 4.47}, {'connected_gene': 'ENSG00000260461', 'score': 0.44}]
chr10 GH10I104076 104076220 104078063 1.04 [{'connected_gene': 'GC10M104086', 'score': 0.44}, {'connected_gene': 'GC10M104085', 'score': 0.44}, {'connected_gene': 'COL17A1', 'score': 0.44}, {'connected_gene': 'MIR936', 'score': 0.31}]

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