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
ENST00000337147 [[159186772, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159208139, 159208235], [159210319, 159210403], [159239113, 159239259]] [[159187945, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159208139, 159208235], [159210319, 159210403], [159239113, 159239125]]
ENST00000367075 [[159186779, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159208139, 159208235], [159210319, 159210403], [159239113, 159239198], [159240348, 159240444]] [[159187945, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159208139, 159208235], [159210319, 159210403], [159239113, 159239125]]
ENST00000392177 [[159187927, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159210319, 159210403], [159239113, 159239265]] [[159187945, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159210319, 159210403], [159239113, 159239125]]
ENST00000476189 [[159204565, 159204698], [159205675, 159205759], [159206340, 159206615], [159208139, 159208235], [159209345, 159209511], [159210319, 159210403], [159239113, 159239198], [159240348, 159240381]] None
NM_003379 [[159186772, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159208139, 159208235], [159210319, 159210403], [159239113, 159239340]] [[159187945, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159208139, 159208235], [159210319, 159210403], [159239113, 159239125]]
NM_001111077 [[159186772, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159208139, 159208235], [159210319, 159210403], [159239113, 159239198], [159240348, 159240456]] [[159187945, 159188110], [159188292, 159188544], [159190357, 159190450], [159190815, 159190976], [159191795, 159191926], [159192275, 159192439], [159197439, 159197536], [159204551, 159204698], [159205675, 159205759], [159206340, 159206615], [159208139, 159208235], [159210319, 159210403], [159239113, 159239125]]
Promoter
Chrom Start End Description
chr6 159190878 159190942 CAGE_peak_7_at_EZR_5end
chr6 159191095 159191112 CAGE_peak_11_at_EZR_5end
chr6 159197488 159197513 CAGE_peak_8_at_EZR_5end
chr6 159197522 159197541 CAGE_peak_9_at_EZR_5end
chr6 159204581 159204617 CAGE_peak_5_at_EZR_5end
chr6 159204650 159204705 CAGE_peak_6_at_EZR_5end
chr6 159239257 159239274 CAGE_peak_2_at_EZR_5end
chr6 159240365 159240376 CAGE_peak_4_at_EZR_5end
chr6 159240387 159240414 CAGE_peak_1_at_EZR_5end
chr6 159240415 159240426 CAGE_peak_3_at_EZR_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 GH06I158863 158863097 158865376 0.98 [{'connected_gene': 'WTAP', 'score': 22.34}, {'connected_gene': 'DYNLT1', 'score': 19.27}, {'connected_gene': 'TATDN2P2', 'score': 10.23}, {'connected_gene': 'EZR', 'score': 6.08}, {'connected_gene': 'C6orf99', 'score': 0.44}, {'connected_gene': 'OSTCP1', 'score': 0.44}]
chr6 GH06I158837 158837369 158839926 1.01 [{'connected_gene': 'WTAP', 'score': 48.75}, {'connected_gene': 'LOC442272', 'score': 11.69}, {'connected_gene': 'RNU6-293P', 'score': 11.68}, {'connected_gene': 'TULP4', 'score': 11.67}, {'connected_gene': 'DYNLT1', 'score': 10.12}, {'connected_gene': 'SYTL3', 'score': 10.12}, {'connected_gene': 'TMEM181', 'score': 4.75}, {'connected_gene': 'OSTCP1', 'score': 0.37}, {'connected_gene': 'EZR', 'score': 0.37}]
chr6 GH06I158688 158688989 158689443 0.68 [{'connected_gene': 'SYTL3', 'score': 21.44}, {'connected_gene': 'DYNLT1', 'score': 12.64}, {'connected_gene': 'TATDN2P2', 'score': 11.28}, {'connected_gene': 'LOC442272', 'score': 10.62}, {'connected_gene': 'RNU6-293P', 'score': 10.62}, {'connected_gene': 'EZR', 'score': 1.66}, {'connected_gene': 'TAGAP', 'score': 1.46}, {'connected_gene': 'AMZ2P2', 'score': 0.28}]
chr6 GH06I158685 158685742 158688749 1.22 [{'connected_gene': 'SYTL3', 'score': 32.41}, {'connected_gene': 'DYNLT1', 'score': 12.64}, {'connected_gene': 'TATDN2P2', 'score': 11.28}, {'connected_gene': 'LOC442272', 'score': 10.62}, {'connected_gene': 'RNU6-293P', 'score': 10.62}, {'connected_gene': 'TAGAP', 'score': 1.81}, {'connected_gene': 'EZR', 'score': 1.34}, {'connected_gene': 'AMZ2P2', 'score': 0.28}]
chr6 GH06I158938 158938601 158940179 1.03 [{'connected_gene': 'RSPH3', 'score': 21.52}, {'connected_gene': 'TAGAP', 'score': 4.37}, {'connected_gene': 'EZR', 'score': 1.33}, {'connected_gene': 'RNU6-293P', 'score': 0.39}, {'connected_gene': 'LOC105378083', 'score': 0.25}]
chr6 GH06I158807 158807374 158820622 2.82 [{'connected_gene': 'EZR', 'score': 568.05}, {'connected_gene': 'WTAP', 'score': 25.19}, {'connected_gene': 'LOC442272', 'score': 11.02}, {'connected_gene': 'RNU6-293P', 'score': 11.01}, {'connected_gene': 'RSPH3', 'score': 10.89}, {'connected_gene': 'SYTL3', 'score': 9.92}, {'connected_gene': 'TMEM181', 'score': 5.51}, {'connected_gene': 'DYNLT1', 'score': 4.72}, {'connected_gene': 'TAGAP', 'score': 3.22}, {'connected_gene': 'EZR-AS1', 'score': 0.77}, {'connected_gene': 'GC06M158798', 'score': 0.39}]
chr6 GH06I158769 158769449 158774934 0.88 [{'connected_gene': 'EZR', 'score': 17.86}, {'connected_gene': 'SYTL3', 'score': 13.75}, {'connected_gene': 'LOC442272', 'score': 11.17}, {'connected_gene': 'RNU6-293P', 'score': 11.17}, {'connected_gene': 'DYNLT1', 'score': 11.0}, {'connected_gene': 'TMEM181', 'score': 4.86}, {'connected_gene': 'TAGAP', 'score': 2.12}, {'connected_gene': 'PIR57726', 'score': 0.77}, {'connected_gene': 'GC06M158769', 'score': 0.77}, {'connected_gene': 'GC06M158798', 'score': 0.31}]
chr6 GH06I158786 158786269 158791731 1.13 [{'connected_gene': 'EZR', 'score': 15.72}, {'connected_gene': 'RSPH3', 'score': 11.71}, {'connected_gene': 'TMEM181', 'score': 5.52}, {'connected_gene': 'SYTL3', 'score': 2.21}, {'connected_gene': 'TAGAP', 'score': 1.22}, {'connected_gene': 'GC06M158798', 'score': 0.39}, {'connected_gene': 'GC06M158769', 'score': 0.34}, {'connected_gene': 'PIR57726', 'score': 0.34}]
chr6 GH06I158780 158780390 158785209 0.79 [{'connected_gene': 'EZR', 'score': 15.32}, {'connected_gene': 'RSPH3', 'score': 11.71}, {'connected_gene': 'LOC442272', 'score': 11.22}, {'connected_gene': 'RNU6-293P', 'score': 11.21}, {'connected_gene': 'DYNLT1', 'score': 10.54}, {'connected_gene': 'SYTL3', 'score': 10.54}, {'connected_gene': 'TMEM181', 'score': 4.86}, {'connected_gene': 'ENSG00000229502', 'score': 4.83}, {'connected_gene': 'PIR57726', 'score': 0.37}, {'connected_gene': 'GC06M158769', 'score': 0.37}, {'connected_gene': 'GC06M158798', 'score': 0.37}]
chr6 GH06I158792 158792958 158794525 1.16 [{'connected_gene': 'EZR', 'score': 15.37}, {'connected_gene': 'RSPH3', 'score': 11.71}, {'connected_gene': 'LOC442272', 'score': 11.07}, {'connected_gene': 'RNU6-293P', 'score': 11.06}, {'connected_gene': 'GC06M158798', 'score': 0.44}, {'connected_gene': 'GC06M158769', 'score': 0.31}, {'connected_gene': 'PIR57726', 'score': 0.31}]
chr6 GH06I158825 158825197 158827633 1.25 [{'connected_gene': 'EZR', 'score': 15.34}, {'connected_gene': 'LOC442272', 'score': 10.9}, {'connected_gene': 'RNU6-293P', 'score': 10.89}, {'connected_gene': 'DYNLT1', 'score': 10.31}, {'connected_gene': 'SYTL3', 'score': 10.31}, {'connected_gene': 'RSPH3', 'score': 10.25}, {'connected_gene': 'TMEM181', 'score': 5.5}, {'connected_gene': 'OSTCP1', 'score': 0.29}]
chr6 GH06I158840 158840594 158841085 0.43 [{'connected_gene': 'EZR', 'score': 13.02}, {'connected_gene': 'LOC442272', 'score': 11.58}, {'connected_gene': 'RNU6-293P', 'score': 11.57}, {'connected_gene': 'TMEM181', 'score': 5.51}, {'connected_gene': 'DYNLT1', 'score': 4.74}, {'connected_gene': 'OSTCP1', 'score': 0.37}]
chr6 GH06I158860 158860303 158861427 0.87 [{'connected_gene': 'EZR', 'score': 6.58}, {'connected_gene': 'OSTCP1', 'score': 0.77}, {'connected_gene': 'C6orf99', 'score': 0.44}]
chr6 GH06I158822 158822419 158823262 0.51 [{'connected_gene': 'EZR', 'score': 16.3}, {'connected_gene': 'OSTCP1', 'score': 0.29}]
chr6 GH06I158775 158775197 158779636 0.38 [{'connected_gene': 'EZR', 'score': 14.99}, {'connected_gene': 'RNU6-293P', 'score': 11.2}, {'connected_gene': 'LOC442272', 'score': 11.2}, {'connected_gene': 'DYNLT1', 'score': 10.2}, {'connected_gene': 'SYTL3', 'score': 10.2}, {'connected_gene': 'GC06M158769', 'score': 0.44}, {'connected_gene': 'PIR57726', 'score': 0.44}, {'connected_gene': 'GC06M158798', 'score': 0.34}]
chr6 GH06I158759 158759988 158760938 0.58 [{'connected_gene': 'EZR', 'score': 7.98}, {'connected_gene': 'MIR3918', 'score': 0.77}, {'connected_gene': 'AMZ2P2', 'score': 0.29}, {'connected_gene': 'SYTL3', 'score': 0.13}]
chr6 GH06I158742 158742745 158745061 0.84 [{'connected_gene': 'DYNLT1', 'score': 14.94}, {'connected_gene': 'LOC442272', 'score': 11.12}, {'connected_gene': 'RNU6-293P', 'score': 11.12}, {'connected_gene': 'RSPH3', 'score': 10.57}, {'connected_gene': 'SYTL3', 'score': 10.29}, {'connected_gene': 'ENSG00000238019', 'score': 9.36}, {'connected_gene': 'EZR', 'score': 6.25}, {'connected_gene': 'TMEM181', 'score': 4.82}, {'connected_gene': 'AMZ2P2', 'score': 0.37}, {'connected_gene': 'MIR3918', 'score': 0.34}]
chr6 GH06I158834 158834730 158836878 1.24 [{'connected_gene': 'DYNLT1', 'score': 14.44}, {'connected_gene': 'LOC442272', 'score': 11.68}, {'connected_gene': 'RNU6-293P', 'score': 11.68}, {'connected_gene': 'EZR', 'score': 11.34}, {'connected_gene': 'SYTL3', 'score': 10.12}, {'connected_gene': 'TMEM181', 'score': 5.51}, {'connected_gene': 'OSTCP1', 'score': 0.34}]
chr6 GH06I158714 158714576 158721771 1.52 [{'connected_gene': 'TULP4', 'score': 5.34}, {'connected_gene': 'TMEM181', 'score': 5.31}, {'connected_gene': 'TAGAP', 'score': 4.47}, {'connected_gene': 'EZR', 'score': 3.14}, {'connected_gene': 'C6orf99', 'score': 2.32}, {'connected_gene': 'SYTL3', 'score': 1.95}, {'connected_gene': 'DYNLT1', 'score': 1.43}, {'connected_gene': 'AMZ2P2', 'score': 0.44}]
chr6 GH06I158736 158736754 158738657 1.12 [{'connected_gene': 'LOC442272', 'score': 10.81}, {'connected_gene': 'RNU6-293P', 'score': 10.81}, {'connected_gene': 'RSPH3', 'score': 10.28}, {'connected_gene': 'EZR', 'score': 4.56}, {'connected_gene': 'AMZ2P2', 'score': 0.39}, {'connected_gene': 'MIR3918', 'score': 0.31}, {'connected_gene': 'SYTL3', 'score': 0.16}]
chr6 GH06I158878 158878145 158879930 0.84 [{'connected_gene': 'LOC442272', 'score': 12.12}, {'connected_gene': 'RNU6-293P', 'score': 12.11}, {'connected_gene': 'RSPH3', 'score': 11.06}, {'connected_gene': 'EZR', 'score': 7.95}, {'connected_gene': 'GC06M158871', 'score': 0.44}, {'connected_gene': 'C6orf99', 'score': 0.44}]
chr6 GH06I158843 158843070 158844956 0.92 [{'connected_gene': 'LOC442272', 'score': 10.49}, {'connected_gene': 'RNU6-293P', 'score': 10.48}, {'connected_gene': 'EZR', 'score': 6.78}, {'connected_gene': 'DYNLT1', 'score': 4.79}, {'connected_gene': 'OSTCP1', 'score': 0.39}]
chr6 GH06I158848 158847080 158847281 0.54 [{'connected_gene': 'LOC442272', 'score': 12.21}, {'connected_gene': 'RNU6-293P', 'score': 12.2}, {'connected_gene': 'EZR', 'score': 5.98}, {'connected_gene': 'OSTCP1', 'score': 0.39}]
chr6 GH06I158893 158893740 158895397 0.74 [{'connected_gene': 'LOC442272', 'score': 12.3}, {'connected_gene': 'RNU6-293P', 'score': 12.29}, {'connected_gene': 'EZR', 'score': 8.16}, {'connected_gene': 'GC06M158871', 'score': 0.34}, {'connected_gene': 'C6orf99', 'score': 0.34}]
chr6 GH06I158897 158897081 158897903 0.2 [{'connected_gene': 'LOC442272', 'score': 12.45}, {'connected_gene': 'RNU6-293P', 'score': 12.42}, {'connected_gene': 'EZR', 'score': 5.44}, {'connected_gene': 'GC06M158871', 'score': 0.34}, {'connected_gene': 'C6orf99', 'score': 0.31}]
chr6 GH06I158794 158794849 158794849 0.4 [{'connected_gene': 'LOC442272', 'score': 11.07}, {'connected_gene': 'RNU6-293P', 'score': 11.06}, {'connected_gene': 'GC06M158798', 'score': 0.44}, {'connected_gene': 'EZR', 'score': 0.34}, {'connected_gene': 'GC06M158769', 'score': 0.31}, {'connected_gene': 'PIR57726', 'score': 0.31}]
chr6 GH06I158761 158761609 158765218 1.15 [{'connected_gene': 'MIR3918', 'score': 550.77}, {'connected_gene': 'EZR', 'score': 14.94}, {'connected_gene': 'LOC442272', 'score': 11.44}, {'connected_gene': 'RNU6-293P', 'score': 11.43}, {'connected_gene': 'ENSG00000229502', 'score': 5.04}, {'connected_gene': 'TMEM181', 'score': 4.87}, {'connected_gene': 'AMZ2P2', 'score': 0.28}, {'connected_gene': 'SYTL3', 'score': 0.13}]
chr6 GH06I158866 158866588 158871210 1.79 [{'connected_gene': 'C6orf99', 'score': 550.77}, {'connected_gene': 'WTAP', 'score': 16.14}, {'connected_gene': 'DYNLT1', 'score': 11.11}, {'connected_gene': 'EZR', 'score': 8.21}, {'connected_gene': 'GC06M158871', 'score': 0.77}, {'connected_gene': 'GC06M158870', 'score': 0.77}, {'connected_gene': 'OSTCP1', 'score': 0.39}]
chr6 GH06I158795 158795475 158806965 1.34 [{'connected_gene': 'GC06M158798', 'score': 550.77}, {'connected_gene': 'EZR', 'score': 15.42}, {'connected_gene': 'RNU6-293P', 'score': 11.43}, {'connected_gene': 'LOC442272', 'score': 11.43}, {'connected_gene': 'RSPH3', 'score': 11.39}, {'connected_gene': 'DYNLT1', 'score': 10.44}, {'connected_gene': 'SYTL3', 'score': 10.44}, {'connected_gene': 'TMEM181', 'score': 5.61}, {'connected_gene': 'ENSG00000229502', 'score': 4.82}, {'connected_gene': 'EZR-AS1', 'score': 0.37}]
chr6 GH06I158767 158767509 158767658 0.4 [{'connected_gene': 'PIR35364', 'score': 550.77}, {'connected_gene': 'PIR42023', 'score': 550.77}, {'connected_gene': 'PIR57726', 'score': 550.77}, {'connected_gene': 'GC06M158769', 'score': 550.77}, {'connected_gene': 'PIR34270', 'score': 550.77}, {'connected_gene': 'LOC442272', 'score': 10.8}, {'connected_gene': 'RNU6-293P', 'score': 10.8}, {'connected_gene': 'GC06M158798', 'score': 0.29}, {'connected_gene': 'EZR', 'score': 0.23}]
chr6 GH06I159103 159103849 159110357 1.59 [{'connected_gene': 'ENSG00000224478', 'score': 550.77}, {'connected_gene': 'TAGAP', 'score': 19.39}, {'connected_gene': 'RSPH3', 'score': 11.83}, {'connected_gene': 'EZR', 'score': 4.73}, {'connected_gene': 'ENSG00000226032', 'score': 0.26}]

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