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
ENST00000396573 [[9852375, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274286], [10275733, 10275924], [10276510, 10276611]] [[9857005, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274268]]
ENST00000562109 [[9856531, 9857285], [9857628, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274289]] [[9857211, 9857285], [9857628, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274268]]
ENST00000535259 [[9856532, 9857285], [9857628, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10064599, 10064652]] [[9857211, 9857285], [9857628, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032351]]
ENST00000404927 [[9856532, 9857285], [9857628, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274286], [10275733, 10275924]] [[9857211, 9857285], [9857628, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274268]]
ENST00000330684 [[9856917, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274286], [10275733, 10276263]] [[9857005, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274268]]
ENST00000396575 [[9857005, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274268]] [[9857005, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274268]]
ENST00000566683 [[9943743, 9943818], [9984842, 9984957], [10125181, 10125421]] None
ENST00000566670 [[10032010, 10032408], [10125181, 10125437]] None
ENST00000461292 [[9857031, 9857285], [9857628, 9857663]] None
ENST00000463531 [[9858695, 9858805], [9862707, 9863085]] None
ENST00000568247 [[10031923, 10032408], [10064599, 10064652]] None
ENST00000566665 [[10273347, 10274286], [10275733, 10276116]] None
NM_001134408 [[9847260, 9857285], [9857628, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274286], [10275733, 10275924]] [[9857211, 9857285], [9857628, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274268]]
NM_001134407 [[9847260, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274286], [10275733, 10276263]] [[9857005, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274268]]
NM_000833 [[9847260, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274286], [10275733, 10275924], [10276510, 10276611]] [[9857005, 9858805], [9862707, 9862946], [9892133, 9892321], [9916120, 9916281], [9923279, 9923509], [9927961, 9928087], [9934503, 9934657], [9934792, 9934961], [9943612, 9943818], [9984842, 9984957], [10031815, 10032408], [10273854, 10274268]]
Promoter
Chrom Start End Description
chr16 9857868 9857871 CAGE_peak_15_at_GRIN2A_5end
chr16 10274635 10274647 CAGE_peak_5_at_GRIN2A_5end
chr16 10274659 10274681 CAGE_peak_4_at_GRIN2A_5end
chr16 10276144 10276151 CAGE_peak_10_at_GRIN2A_5end
chr16 10276234 10276249 CAGE_peak_2_at_GRIN2A_5end
chr16 10276251 10276289 CAGE_peak_3_at_GRIN2A_5end
chr16 10276731 10276772 CAGE_peak_1_at_GRIN2A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I010126 10126498 10127481 0.43 [{'connected_gene': 'GRIN2A', 'score': 33.84}, {'connected_gene': 'ATF7IP2', 'score': 1.52}, {'connected_gene': 'GC16M010114', 'score': 0.39}, {'connected_gene': 'GC16P010176', 'score': 0.25}]
chr16 GH16I010101 10101117 10101152 0.22 [{'connected_gene': 'GRIN2A', 'score': 11.73}, {'connected_gene': 'IMPDH1P11', 'score': 0.39}, {'connected_gene': 'GC16M010069', 'score': 0.31}]
chr16 GH16I009807 9807643 9808426 0.47 [{'connected_gene': 'GRIN2A', 'score': 3.01}, {'connected_gene': 'LOC105371077', 'score': 0.37}, {'connected_gene': 'PIR33121', 'score': 0.08}]
chr16 GH16I009977 9977868 9978204 0.51 [{'connected_gene': 'GRIN2A', 'score': 2.17}, {'connected_gene': 'PIR33121', 'score': 0.29}, {'connected_gene': 'LOC105371077', 'score': 0.09}]
chr16 GH16I009818 9818658 9818802 0.33 [{'connected_gene': 'GRIN2A', 'score': 3.78}, {'connected_gene': 'LOC105371077', 'score': 0.31}, {'connected_gene': 'PIR33121', 'score': 0.08}]
chr16 GH16I010089 10089558 10092957 0.31 [{'connected_gene': 'GRIN2A', 'score': 16.72}, {'connected_gene': 'LOC105371076', 'score': 13.07}, {'connected_gene': 'IMPDH1P11', 'score': 5.52}, {'connected_gene': 'EMP2', 'score': 4.69}, {'connected_gene': 'GC16M010069', 'score': 0.37}]
chr16 GH16I010120 10120604 10123308 0.77 [{'connected_gene': 'GRIN2A', 'score': 39.06}, {'connected_gene': 'LOC105371076', 'score': 11.41}, {'connected_gene': 'GC16M010114', 'score': 0.44}, {'connected_gene': 'GC16P010176', 'score': 0.23}]
chr16 GH16I010141 10141485 10142325 0.43 [{'connected_gene': 'GRIN2A', 'score': 11.54}, {'connected_gene': 'GC16M010114', 'score': 0.31}, {'connected_gene': 'GC16P010176', 'score': 0.29}]
chr16 GH16I009749 9749979 9750300 0.25 [{'connected_gene': 'GRIN2A', 'score': 2.75}, {'connected_gene': 'GC16P009760', 'score': 0.44}, {'connected_gene': 'GC16P009697', 'score': 0.23}]
chr16 GH16I009744 9744599 9744612 0.22 [{'connected_gene': 'GRIN2A', 'score': 1.35}, {'connected_gene': 'GC16P009760', 'score': 0.37}, {'connected_gene': 'GC16P009697', 'score': 0.25}]
chr16 GH16I010127 10127865 10127923 0.22 [{'connected_gene': 'GRIN2A', 'score': 33.84}, {'connected_gene': 'GC16M010114', 'score': 0.39}, {'connected_gene': 'GC16P010176', 'score': 0.25}]
chr16 GH16I009738 9738803 9738974 0.22 [{'connected_gene': 'GRIN2A', 'score': 1.35}, {'connected_gene': 'GC16P009760', 'score': 0.34}, {'connected_gene': 'GC16P009697', 'score': 0.26}]
chr16 GH16I010132 10132337 10132740 0.22 [{'connected_gene': 'GRIN2A', 'score': 7.34}, {'connected_gene': 'GC16M010114', 'score': 0.37}, {'connected_gene': 'GC16P010176', 'score': 0.26}]
chr16 GH16I010128 10128417 10129069 0.38 [{'connected_gene': 'GRIN2A', 'score': 11.33}, {'connected_gene': 'GC16M010114', 'score': 0.37}, {'connected_gene': 'GC16P010176', 'score': 0.25}]
chr16 GH16I010129 10129252 10131766 0.49 [{'connected_gene': 'GRIN2A', 'score': 32.02}, {'connected_gene': 'GC16M010114', 'score': 0.37}, {'connected_gene': 'GC16P010176', 'score': 0.25}]
chr16 GH16I010180 10180288 10183956 1.51 [{'connected_gene': 'GRIN2A', 'score': 567.77}, {'connected_gene': 'GC16P010176', 'score': 0.44}]
chr16 GH16I009816 9816564 9816713 0.2 [{'connected_gene': 'LOC105371077', 'score': 0.34}, {'connected_gene': 'PIR33121', 'score': 0.08}, {'connected_gene': 'GRIN2A', 'score': 0.05}]
chr16 GH16I009817 9816764 9816953 0.2 [{'connected_gene': 'LOC105371077', 'score': 0.31}, {'connected_gene': 'PIR33121', 'score': 0.08}, {'connected_gene': 'GRIN2A', 'score': 0.05}]
chr16 GH16I009820 9820186 9822446 0.31 [{'connected_gene': 'LOC105371077', 'score': 0.31}, {'connected_gene': 'PIR33121', 'score': 0.08}, {'connected_gene': 'GRIN2A', 'score': 0.05}]
chr16 GH16I009840 9840644 9841282 0.65 [{'connected_gene': 'LOC105371077', 'score': 0.25}, {'connected_gene': 'PIR33121', 'score': 0.09}, {'connected_gene': 'GRIN2A', 'score': 0.05}]
chr16 GH16I009797 9797444 9797593 0.46 [{'connected_gene': 'LOC105371077', 'score': 0.44}, {'connected_gene': 'PIR33121', 'score': 0.08}, {'connected_gene': 'GRIN2A', 'score': 0.05}]
chr16 GH16I009854 9854684 9854993 0.2 [{'connected_gene': 'LOC105371077', 'score': 0.21}, {'connected_gene': 'PIR33121', 'score': 0.1}, {'connected_gene': 'GRIN2A', 'score': 0.05}]
chr16 GH16I009843 9843512 9847575 0.38 [{'connected_gene': 'LOC105371077', 'score': 0.23}, {'connected_gene': 'PIR33121', 'score': 0.1}, {'connected_gene': 'GRIN2A', 'score': 0.05}]
chr16 GH16I009827 9827444 9827533 0.2 [{'connected_gene': 'LOC105371077', 'score': 0.28}, {'connected_gene': 'PIR33121', 'score': 0.09}, {'connected_gene': 'GRIN2A', 'score': 0.05}]
chr16 GH16I010096 10096605 10098027 0.2 [{'connected_gene': 'LOC105371076', 'score': 11.54}, {'connected_gene': 'IMPDH1P11', 'score': 0.39}, {'connected_gene': 'GC16M010069', 'score': 0.31}, {'connected_gene': 'GRIN2A', 'score': 0.17}]
chr16 GH16I010092 10092988 10095773 0.64 [{'connected_gene': 'LOC105371076', 'score': 13.06}, {'connected_gene': 'GRIN2A', 'score': 12.17}, {'connected_gene': 'IMPDH1P11', 'score': 6.62}, {'connected_gene': 'EMP2', 'score': 4.7}, {'connected_gene': 'GC16M010069', 'score': 0.34}]
chr16 GH16I010099 10099298 10100152 0.43 [{'connected_gene': 'LOC105371076', 'score': 13.06}, {'connected_gene': 'GRIN2A', 'score': 10.54}, {'connected_gene': 'IMPDH1P11', 'score': 0.39}, {'connected_gene': 'GC16M010069', 'score': 0.31}]
chr16 GH16I010106 10106458 10108012 0.2 [{'connected_gene': 'LOC105371076', 'score': 13.35}, {'connected_gene': 'GRIN2A', 'score': 10.62}, {'connected_gene': 'IMPDH1P11', 'score': 0.77}, {'connected_gene': 'GC16M010069', 'score': 0.28}]
chr16 GH16I010102 10102112 10105029 0.31 [{'connected_gene': 'LOC105371076', 'score': 12.84}, {'connected_gene': 'GRIN2A', 'score': 11.14}, {'connected_gene': 'IMPDH1P11', 'score': 5.14}, {'connected_gene': 'GC16M010069', 'score': 0.29}]
chr16 GH16I010038 10038876 10040113 0.49 [{'connected_gene': 'LOC105371076', 'score': 10.86}, {'connected_gene': 'GC16P010027', 'score': 0.39}, {'connected_gene': 'GC16M010055', 'score': 0.34}, {'connected_gene': 'GRIN2A', 'score': 0.11}]
chr16 GH16I010031 10031524 10031651 0.48 [{'connected_gene': 'LOC105371076', 'score': 574.19}, {'connected_gene': 'GRIN2A', 'score': 10.51}, {'connected_gene': 'GC16P010027', 'score': 0.77}]
chr16 GH16I010078 10078644 10078833 0.43 [{'connected_gene': 'GC16M010069', 'score': 0.44}, {'connected_gene': 'IMPDH1P11', 'score': 0.29}, {'connected_gene': 'GRIN2A', 'score': 0.15}]
chr16 GH16I010085 10085524 10085673 0.2 [{'connected_gene': 'GC16M010069', 'score': 0.39}, {'connected_gene': 'IMPDH1P11', 'score': 0.31}, {'connected_gene': 'GRIN2A', 'score': 0.15}]
chr16 GH16I010079 10079411 10081579 1.02 [{'connected_gene': 'GC16M010069', 'score': 0.44}, {'connected_gene': 'IMPDH1P11', 'score': 0.29}, {'connected_gene': 'GRIN2A', 'score': 0.15}]
chr16 GH16I010256 10256491 10258453 1.13 [{'connected_gene': 'ENSG00000256013', 'score': 10.42}, {'connected_gene': 'GRIN2A', 'score': 10.05}, {'connected_gene': 'LOC105371078', 'score': 0.77}, {'connected_gene': 'ATF7IP2', 'score': 0.2}]
chr16 GH16I010167 10167997 10168816 0.2 [{'connected_gene': 'GC16P010176', 'score': 0.44}, {'connected_gene': 'GRIN2A', 'score': 0.39}, {'connected_gene': 'GC16M010114', 'score': 0.23}]
chr16 GH16I010173 10173264 10173413 0.52 [{'connected_gene': 'GC16P010176', 'score': 0.77}, {'connected_gene': 'GRIN2A', 'score': 0.39}, {'connected_gene': 'GC16M010114', 'score': 0.22}]
chr16 GH16I010174 10173024 10173173 0.56 [{'connected_gene': 'GC16P010176', 'score': 0.77}, {'connected_gene': 'GRIN2A', 'score': 0.39}, {'connected_gene': 'GC16M010114', 'score': 0.22}]
chr16 GH16I010615 10615734 10620579 1.66 [{'connected_gene': 'ENSG00000256013', 'score': 11.0}, {'connected_gene': 'EMP2', 'score': 5.51}, {'connected_gene': 'NUBP1', 'score': 5.46}, {'connected_gene': 'ENSG00000260310', 'score': 4.68}, {'connected_gene': 'GRIN2A', 'score': 4.42}, {'connected_gene': 'LOC105371079', 'score': 0.19}, {'connected_gene': 'TEKT5', 'score': 0.13}, {'connected_gene': 'GC16P010485', 'score': 0.12}]
chr16 GH16I009946 9946176 9946410 0.38 [{'connected_gene': 'PIR33121', 'score': 0.2}, {'connected_gene': 'LOC105371077', 'score': 0.1}, {'connected_gene': 'GRIN2A', 'score': 0.07}]
chr16 GH16I009914 9914400 9914868 0.74 [{'connected_gene': 'PIR33121', 'score': 0.15}, {'connected_gene': 'LOC105371077', 'score': 0.13}, {'connected_gene': 'GRIN2A', 'score': 0.06}]
chr16 GH16I009913 9913764 9913913 0.2 [{'connected_gene': 'PIR33121', 'score': 0.15}, {'connected_gene': 'LOC105371077', 'score': 0.13}, {'connected_gene': 'GRIN2A', 'score': 0.06}]
chr16 GH16I010113 10113244 10115940 0.38 [{'connected_gene': 'GC16M010114', 'score': 550.77}, {'connected_gene': 'GC16M010113', 'score': 550.77}, {'connected_gene': 'LOC105371076', 'score': 5.87}, {'connected_gene': 'IMPDH1P11', 'score': 0.77}, {'connected_gene': 'GC16P010176', 'score': 0.21}, {'connected_gene': 'GRIN2A', 'score': 0.2}]

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