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
ENST00000321394 [[160199529, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209175], [160210436, 160210781]] [[160200076, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209175], [160210436, 160210500]]
ENST00000544255 [[160199995, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160208774, 160208903], [160210436, 160210628]] [[160200076, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205097]]
ENST00000420894 [[160200016, 160200293], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209175], [160210436, 160210604]] [[160200281, 160200293], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209175], [160210436, 160210500]]
ENST00000392168 [[160200018, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206528], [160206931, 160207029], [160208774, 160208903], [160210436, 160210735]] [[160200076, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206440]]
ENST00000546204 [[160200623, 160200822], [160200926, 160201293]] None
ENST00000539756 [[160200947, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160210436, 160210617]] [[160200947, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160210436, 160210500]]
ENST00000536807 [[160202056, 160202142], [160204972, 160205099], [160205697, 160206357]] None
ENST00000538530 [[160205021, 160205099], [160205697, 160205879], [160206417, 160206528], [160206931, 160207052], [160208774, 160208934], [160209089, 160209175], [160210436, 160210616]] [[160208886, 160208934], [160209089, 160209175], [160210436, 160210500]]
ENST00000543532 [[160205021, 160205099], [160208774, 160208903], [160209089, 160209175], [160210436, 160210704]] None
ENST00000467544 [[160205707, 160205879], [160206417, 160206903]] None
ENST00000538128 [[160205830, 160205879], [160206417, 160206528], [160208774, 160208903], [160210436, 160210704]] [[160205830, 160205879], [160206417, 160206528], [160208774, 160208791]]
ENST00000543517 [[160205842, 160205879], [160206417, 160206528], [160208774, 160208903], [160209089, 160209175], [160210436, 160210634]] [[160206504, 160206528], [160208774, 160208903], [160209089, 160209175], [160210436, 160210500]]
ENST00000539948 [[160206431, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209471]] [[160206431, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209173]]
ENST00000545764 [[160206449, 160206528], [160206931, 160207029], [160208774, 160209306]] None
ENST00000537390 [[160206505, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209175], [160209641, 160209728], [160210436, 160210704]] [[160206505, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209173]]
ENST00000536394 [[160206968, 160207029], [160208774, 160208903], [160209089, 160209175], [160209641, 160209900]] [[160206968, 160207029], [160208774, 160208903], [160209089, 160209173]]
ENST00000536607 [[160208775, 160209175], [160210436, 160210608]] None
ENST00000546023 [[160209468, 160210334], [160210436, 160210705]] None
NM_030752 [[160199529, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209175], [160210436, 160210735]] [[160200076, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206528], [160206931, 160207029], [160208774, 160208903], [160209089, 160209175], [160210436, 160210500]]
NM_001008897 [[160199529, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206528], [160206931, 160207029], [160208774, 160208903], [160210436, 160210735]] [[160200076, 160200293], [160200658, 160200822], [160200926, 160201119], [160201474, 160201598], [160201966, 160202142], [160204972, 160205099], [160205697, 160205879], [160206417, 160206440]]
Promoter
Chrom Start End Description
chr6 160209613 160209622 CAGE_peak_4_at_TCP1_5end
chr6 160210613 160210641 CAGE_peak_1_at_TCP1_5end
chr6 160210692 160210705 CAGE_peak_2_at_TCP1_5end
chr6 160210715 160210724 CAGE_peak_3_at_TCP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I158847 158847509 158858734 1.89 [{'connected_gene': 'WTAP', 'score': 80.17}, {'connected_gene': 'DYNLT1', 'score': 22.27}, {'connected_gene': 'EZR', 'score': 13.77}, {'connected_gene': 'SYTL3', 'score': 12.61}, {'connected_gene': 'LOC442272', 'score': 12.22}, {'connected_gene': 'RNU6-293P', 'score': 12.21}, {'connected_gene': 'TCP1', 'score': 10.8}, {'connected_gene': 'TATDN2P2', 'score': 10.23}, {'connected_gene': 'MRPL18', 'score': 9.68}, {'connected_gene': 'TAGAP', 'score': 2.62}, {'connected_gene': 'OSTCP1', 'score': 0.77}]
chr6 GH06I159725 159725556 159730972 2.35 [{'connected_gene': 'WTAP', 'score': 594.53}, {'connected_gene': 'GC06M159725', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 39.81}, {'connected_gene': 'TCP1', 'score': 24.49}, {'connected_gene': 'PNLDC1', 'score': 23.84}, {'connected_gene': 'ACAT2', 'score': 11.96}, {'connected_gene': 'SOD2-OT1', 'score': 11.5}, {'connected_gene': 'SOD2', 'score': 11.5}, {'connected_gene': 'SNORA29', 'score': 11.48}, {'connected_gene': 'SNORA20', 'score': 11.23}, {'connected_gene': 'LOC729603', 'score': 11.21}, {'connected_gene': 'IGF2R', 'score': 4.96}, {'connected_gene': 'LOC105378085', 'score': 4.52}]
chr6 GH06I159689 159689001 159689200 0.51 [{'connected_gene': 'WTAP', 'score': 23.2}, {'connected_gene': 'MRPL18', 'score': 15.46}, {'connected_gene': 'SOD2-OT1', 'score': 12.44}, {'connected_gene': 'SOD2', 'score': 12.44}, {'connected_gene': 'ACAT2', 'score': 11.77}, {'connected_gene': 'SNORA29', 'score': 11.25}, {'connected_gene': 'TCP1', 'score': 11.25}, {'connected_gene': 'SNORA20', 'score': 10.87}, {'connected_gene': 'GC06M159698', 'score': 0.39}, {'connected_gene': 'GC06M159668', 'score': 0.34}, {'connected_gene': 'PIR54448', 'score': 0.34}]
chr6 GH06I159740 159740986 159742709 0.59 [{'connected_gene': 'WTAP', 'score': 23.36}, {'connected_gene': 'PNLDC1', 'score': 23.32}, {'connected_gene': 'SOD2-OT1', 'score': 12.02}, {'connected_gene': 'SOD2', 'score': 12.02}, {'connected_gene': 'SNORA29', 'score': 11.23}, {'connected_gene': 'TCP1', 'score': 11.21}, {'connected_gene': 'SNORA20', 'score': 11.04}, {'connected_gene': 'MRPL18', 'score': 11.01}, {'connected_gene': 'GC06M159725', 'score': 0.39}, {'connected_gene': 'ACAT2', 'score': 0.37}]
chr6 GH06I159731 159731001 159731200 0.66 [{'connected_gene': 'ACAT2', 'score': 11.98}, {'connected_gene': 'SOD2-OT1', 'score': 11.5}, {'connected_gene': 'SOD2', 'score': 11.5}, {'connected_gene': 'SNORA29', 'score': 11.49}, {'connected_gene': 'TCP1', 'score': 11.48}, {'connected_gene': 'SNORA20', 'score': 11.25}, {'connected_gene': 'PNLDC1', 'score': 10.22}, {'connected_gene': 'GC06M159725', 'score': 0.77}, {'connected_gene': 'WTAP', 'score': 0.44}]
chr6 GH06I159683 159682429 159682578 0.4 [{'connected_gene': 'SNORA29', 'score': 10.44}, {'connected_gene': 'TCP1', 'score': 10.44}, {'connected_gene': 'PNLDC1', 'score': 10.43}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159690 159690500 159696298 2.29 [{'connected_gene': 'SOD2', 'score': 562.45}, {'connected_gene': 'MRPL18', 'score': 32.74}, {'connected_gene': 'WTAP', 'score': 23.31}, {'connected_gene': 'PNLDC1', 'score': 17.01}, {'connected_gene': 'SOD2-OT1', 'score': 12.45}, {'connected_gene': 'ACAT2', 'score': 11.78}, {'connected_gene': 'SNORA29', 'score': 11.26}, {'connected_gene': 'TCP1', 'score': 11.25}, {'connected_gene': 'SNORA20', 'score': 10.87}, {'connected_gene': 'LOC105378085', 'score': 7.43}, {'connected_gene': 'GC06M159698', 'score': 0.44}, {'connected_gene': 'GC06M159668', 'score': 0.31}, {'connected_gene': 'PIR54448', 'score': 0.31}]
chr6 GH06I160455 160455008 160456666 1.03 [{'connected_gene': 'SLC22A3', 'score': 25.83}, {'connected_gene': 'SNORA29', 'score': 9.39}, {'connected_gene': 'TCP1', 'score': 9.39}, {'connected_gene': 'PIR50129', 'score': 0.44}, {'connected_gene': 'LPAL2', 'score': 0.21}]
chr6 GH06I160456 160456689 160456698 0.2 [{'connected_gene': 'SLC22A3', 'score': 10.42}, {'connected_gene': 'SNORA29', 'score': 9.39}, {'connected_gene': 'TCP1', 'score': 9.39}, {'connected_gene': 'PIR50129', 'score': 0.39}, {'connected_gene': 'LPAL2', 'score': 0.21}]
chr6 GH06I159685 159685479 159686805 0.31 [{'connected_gene': 'MRPL18', 'score': 29.87}, {'connected_gene': 'WTAP', 'score': 12.52}, {'connected_gene': 'SOD2-OT1', 'score': 12.43}, {'connected_gene': 'SOD2', 'score': 12.43}, {'connected_gene': 'ACAT2', 'score': 11.77}, {'connected_gene': 'SNORA29', 'score': 11.25}, {'connected_gene': 'TCP1', 'score': 11.25}, {'connected_gene': 'SNORA20', 'score': 10.87}, {'connected_gene': 'PNLDC1', 'score': 10.44}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}]
chr6 GH06I159787 159787304 159792731 2.1 [{'connected_gene': 'MRPL18', 'score': 614.17}, {'connected_gene': 'TCP1', 'score': 581.76}, {'connected_gene': 'WTAP', 'score': 60.33}, {'connected_gene': 'LOC729603', 'score': 21.69}, {'connected_gene': 'PNLDC1', 'score': 9.72}]
chr6 GH06I159679 159679559 159680728 0.63 [{'connected_gene': 'MRPL18', 'score': 31.0}, {'connected_gene': 'TCP1', 'score': 10.78}, {'connected_gene': 'SNORA29', 'score': 10.78}, {'connected_gene': 'WTAP', 'score': 10.69}, {'connected_gene': 'PNLDC1', 'score': 5.43}, {'connected_gene': 'GC06M159668', 'score': 0.39}, {'connected_gene': 'PIR54448', 'score': 0.39}, {'connected_gene': 'GC06M159698', 'score': 0.34}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159684 159683889 159684038 0.51 [{'connected_gene': 'MRPL18', 'score': 19.99}, {'connected_gene': 'SNORA29', 'score': 10.44}, {'connected_gene': 'TCP1', 'score': 10.44}, {'connected_gene': 'PNLDC1', 'score': 10.43}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159737 159737383 159740202 0.31 [{'connected_gene': 'MRPL18', 'score': 51.37}, {'connected_gene': 'PNLDC1', 'score': 23.07}, {'connected_gene': 'ACAT2', 'score': 12.02}, {'connected_gene': 'SOD2-OT1', 'score': 12.02}, {'connected_gene': 'SOD2', 'score': 12.02}, {'connected_gene': 'SNORA20', 'score': 11.03}, {'connected_gene': 'TCP1', 'score': 11.0}, {'connected_gene': 'SNORA29', 'score': 10.9}, {'connected_gene': 'IGF2R', 'score': 6.61}, {'connected_gene': 'WTAP', 'score': 0.39}, {'connected_gene': 'GC06M159725', 'score': 0.39}]
chr6 GH06I159819 159819410 159821478 0.77 [{'connected_gene': 'MRPL18', 'score': 16.75}, {'connected_gene': 'PNLDC1', 'score': 12.35}, {'connected_gene': 'TCP1', 'score': 11.81}, {'connected_gene': 'SNORA29', 'score': 11.81}, {'connected_gene': 'SNORA20', 'score': 10.64}, {'connected_gene': 'ACAT2', 'score': 10.58}, {'connected_gene': 'SOD2-OT1', 'score': 10.32}, {'connected_gene': 'SOD2', 'score': 10.32}, {'connected_gene': 'SLC22A1', 'score': 6.31}, {'connected_gene': 'IGF2R', 'score': 5.4}, {'connected_gene': 'PIR41853', 'score': 0.44}, {'connected_gene': 'GC06P159828', 'score': 0.44}]
chr6 GH06I159680 159680968 159681783 0.4 [{'connected_gene': 'MRPL18', 'score': 17.83}, {'connected_gene': 'PNLDC1', 'score': 16.36}, {'connected_gene': 'SNORA29', 'score': 10.78}, {'connected_gene': 'TCP1', 'score': 10.78}, {'connected_gene': 'LOC105378085', 'score': 7.34}, {'connected_gene': 'GC06M159668', 'score': 0.39}, {'connected_gene': 'PIR54448', 'score': 0.39}, {'connected_gene': 'GC06M159698', 'score': 0.34}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159831 159830249 159830334 0.2 [{'connected_gene': 'PNLDC1', 'score': 12.09}, {'connected_gene': 'TCP1', 'score': 11.71}, {'connected_gene': 'SNORA29', 'score': 11.71}, {'connected_gene': 'MRPL18', 'score': 11.71}, {'connected_gene': 'SNORA20', 'score': 11.13}, {'connected_gene': 'ACAT2', 'score': 11.09}, {'connected_gene': 'PIR41853', 'score': 0.77}, {'connected_gene': 'GC06P159828', 'score': 0.77}, {'connected_gene': 'GC06P159838', 'score': 0.44}]
chr6 GH06I159830 159830588 159831638 0.2 [{'connected_gene': 'PNLDC1', 'score': 12.09}, {'connected_gene': 'TCP1', 'score': 11.71}, {'connected_gene': 'MRPL18', 'score': 11.71}, {'connected_gene': 'SNORA29', 'score': 11.7}, {'connected_gene': 'SNORA20', 'score': 11.12}, {'connected_gene': 'ACAT2', 'score': 11.08}, {'connected_gene': 'LOC105378085', 'score': 7.14}, {'connected_gene': 'PIR41853', 'score': 0.77}, {'connected_gene': 'GC06P159828', 'score': 0.77}, {'connected_gene': 'GC06P159838', 'score': 0.44}]
chr6 GH06I159682 159682878 159683549 0.51 [{'connected_gene': 'PNLDC1', 'score': 15.74}, {'connected_gene': 'SNORA29', 'score': 10.44}, {'connected_gene': 'TCP1', 'score': 10.44}, {'connected_gene': 'MRPL18', 'score': 7.16}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159829 159829401 159830199 0.2 [{'connected_gene': 'PNLDC1', 'score': 12.11}, {'connected_gene': 'MRPL18', 'score': 11.73}, {'connected_gene': 'TCP1', 'score': 11.71}, {'connected_gene': 'SNORA29', 'score': 11.71}, {'connected_gene': 'SNORA20', 'score': 11.13}, {'connected_gene': 'ACAT2', 'score': 11.09}, {'connected_gene': 'LOC105378085', 'score': 5.36}, {'connected_gene': 'PIR41853', 'score': 0.77}, {'connected_gene': 'GC06P159828', 'score': 0.77}, {'connected_gene': 'GC06P159838', 'score': 0.44}]
chr6 GH06I159699 159699259 159702709 1.3 [{'connected_gene': 'GC06M159698', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 35.87}, {'connected_gene': 'WTAP', 'score': 21.92}, {'connected_gene': 'PNLDC1', 'score': 15.67}, {'connected_gene': 'SOD2-OT1', 'score': 13.25}, {'connected_gene': 'SOD2', 'score': 13.25}, {'connected_gene': 'ACAT2', 'score': 11.44}, {'connected_gene': 'SNORA29', 'score': 10.63}, {'connected_gene': 'TCP1', 'score': 10.62}, {'connected_gene': 'GC06M159668', 'score': 0.29}, {'connected_gene': 'PIR54448', 'score': 0.29}]
chr6 GH06I159776 159776951 159778817 0.63 [{'connected_gene': 'GC06M159783', 'score': 550.77}, {'connected_gene': 'GC06M159779', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 49.14}, {'connected_gene': 'TCP1', 'score': 0.39}, {'connected_gene': 'SOD2-OT1', 'score': 0.37}, {'connected_gene': 'ACAT2', 'score': 0.37}, {'connected_gene': 'SOD2', 'score': 0.37}]

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