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
ENST00000464344 [[242011583, 242015097], [242028602, 242028780], [242029394, 242029459], [242033691, 242033847], [242041667, 242041747]] None
ENST00000496878 [[242014468, 242015097], [242028602, 242028780], [242029394, 242029459], [242033691, 242035088]] None
ENST00000241527 [[242026508, 242028780], [242029394, 242029459], [242033691, 242033847], [242034544, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041710]] [[242035412, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041688]]
ENST00000488567 [[242026618, 242028780], [242029394, 242029459], [242033691, 242033844], [242034011, 242035485]] None
ENST00000455202 [[242026639, 242028780], [242029394, 242029459], [242033691, 242033847], [242036657, 242036842], [242041667, 242041746]] None
ENST00000480298 [[242028319, 242028780], [242029394, 242029459], [242041667, 242041726]] None
ENST00000476564 [[242028455, 242028780], [242029394, 242029459], [242033691, 242033847], [242041667, 242041735]] None
ENST00000449133 [[242028583, 242028780], [242029394, 242029459], [242029692, 242029864], [242033691, 242033791]] [[242029407, 242029459], [242029692, 242029864], [242033691, 242033791]]
ENST00000495694 [[242028639, 242028780], [242029394, 242029459], [242029717, 242029864], [242038810, 242039309], [242041667, 242041724]] [[242028762, 242028780], [242029394, 242029459], [242029717, 242029864], [242038810, 242039309], [242041667, 242041688]]
ENST00000479205 [[242028681, 242028780], [242029394, 242029459], [242029692, 242029864], [242031309, 242031529], [242033691, 242033847]] None
ENST00000493169 [[242028687, 242028780], [242029394, 242029459], [242033691, 242033844], [242036657, 242036842], [242041667, 242041747]] None
ENST00000414146 [[242029420, 242029459], [242033691, 242033847], [242035807, 242035853], [242036657, 242036842], [242038810, 242038841]] [[242029420, 242029459], [242033691, 242033847], [242035807, 242035853], [242036657, 242036842], [242038810, 242038841]]
ENST00000401626 [[242033820, 242033847], [242038810, 242039309], [242041667, 242041702]] [[242033820, 242033847], [242038810, 242039309], [242041667, 242041688]]
ENST00000391980 [[242034980, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041747]] [[242035412, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041688]]
ENST00000406593 [[242035283, 242035853], [242036657, 242036842], [242041667, 242041714]] [[242035412, 242035853], [242036657, 242036798]]
ENST00000439144 [[242035554, 242035853], [242036657, 242036842], [242040578, 242040636], [242041667, 242041708]] [[242035554, 242035853], [242036657, 242036842], [242040578, 242040636], [242041667, 242041688]]
ENST00000424798 [[242036015, 242036128], [242036657, 242036842], [242038810, 242039309]] [[242036038, 242036128], [242036657, 242036842], [242038810, 242039309]]
ENST00000460915 [[242036340, 242036842], [242041667, 242041736]] None
ENST00000407095 [[242036601, 242036842], [242038810, 242039309], [242041667, 242041726]] [[242036603, 242036842], [242038810, 242039309], [242041667, 242041688]]
ENST00000475860 [[242038582, 242039309], [242041667, 242041729]] None
ENST00000434791 [[242038813, 242039309], [242041554, 242041607]] [[242038813, 242039267]]
NR_138463 [[242013808, 242015097], [242028602, 242028780], [242029394, 242029459], [242033691, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041747]] None
NR_138466 [[242026508, 242028780], [242029394, 242029459], [242033691, 242033847], [242034011, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041747]] None
NR_138465 [[242026508, 242028780], [242029394, 242029459], [242033691, 242033847], [242034498, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041747]] None
NR_028049 [[242026508, 242028780], [242029394, 242029459], [242033691, 242033847], [242034544, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041747]] None
NR_138464 [[242026508, 242028780], [242029394, 242029459], [242036657, 242036842], [242038810, 242039309], [242041667, 242041747]] None
NR_028050 [[242026508, 242028780], [242029394, 242029459], [242033691, 242033847], [242036657, 242036842], [242041667, 242041747]] None
NR_028051 [[242026508, 242028780], [242029394, 242029459], [242033691, 242033847], [242041667, 242041747]] None
NM_001330180 [[242028529, 242028780], [242029394, 242029459], [242033691, 242033847], [242038810, 242039309], [242041667, 242041747]] [[242028762, 242028780], [242029394, 242029459], [242033691, 242033847], [242038810, 242039309], [242041667, 242041688]]
NM_182501 [[242034980, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041747]] [[242035412, 242035853], [242036657, 242036842], [242038810, 242039309], [242041667, 242041688]]
NM_001330179 [[242034980, 242035853], [242036657, 242036842], [242041667, 242041747]] [[242035412, 242035853], [242036657, 242036798]]
Promoter
Chrom Start End Description
chr2 242041691 242041740 CAGE_peak_1_at_MTERFD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I241321 241321601 241322400 0.2 [{'connected_gene': 'FARP2', 'score': 13.85}, {'connected_gene': 'ANO7', 'score': 13.62}, {'connected_gene': 'HDLBP', 'score': 10.24}, {'connected_gene': 'MTERF4', 'score': 9.99}, {'connected_gene': 'SEPT2', 'score': 0.44}, {'connected_gene': 'ENSG00000223374', 'score': 0.29}]
chr2 GH02I240873 240873541 240877168 0.94 [{'connected_gene': 'C2orf54', 'score': 19.04}, {'connected_gene': 'ING5', 'score': 16.18}, {'connected_gene': 'ATG4B', 'score': 14.82}, {'connected_gene': 'ENSG00000235351', 'score': 14.25}, {'connected_gene': 'MTERF4', 'score': 12.88}, {'connected_gene': 'CAPN10-AS1', 'score': 11.97}, {'connected_gene': 'CAPN10', 'score': 10.5}, {'connected_gene': 'AGXT', 'score': 8.5}]
chr2 GH02I241540 241540276 241542401 0.92 [{'connected_gene': 'BOK', 'score': 14.04}, {'connected_gene': 'ENSG00000235351', 'score': 6.12}, {'connected_gene': 'MTERF4', 'score': 5.15}, {'connected_gene': 'LOC105373974', 'score': 0.44}, {'connected_gene': 'STK25', 'score': 0.29}]
chr2 GH02I241327 241327669 241327990 0.34 [{'connected_gene': 'PPP1R7', 'score': 9.81}, {'connected_gene': 'PASK', 'score': 9.81}, {'connected_gene': 'ENSG00000229996', 'score': 9.73}, {'connected_gene': 'MTERF4', 'score': 1.23}, {'connected_gene': 'SEPT2', 'score': 0.39}, {'connected_gene': 'HDLBP', 'score': 0.39}, {'connected_gene': 'ENSG00000223374', 'score': 0.31}]
chr2 GH02I240817 240817929 240821585 1.51 [{'connected_gene': 'KIF1A', 'score': 550.77}, {'connected_gene': 'C2orf54', 'score': 14.31}, {'connected_gene': 'AGXT', 'score': 5.27}, {'connected_gene': 'MTERF4', 'score': 4.64}, {'connected_gene': 'GC02P240756', 'score': 0.21}]
chr2 GH02I241616 241616946 241621067 2.15 [{'connected_gene': 'THAP4', 'score': 560.67}, {'connected_gene': 'ING5', 'score': 79.63}, {'connected_gene': 'ENSG00000223374', 'score': 74.64}, {'connected_gene': 'SNED1', 'score': 56.45}, {'connected_gene': 'ENSG00000235351', 'score': 51.26}, {'connected_gene': 'MTERF4', 'score': 47.69}, {'connected_gene': 'FARP2', 'score': 44.15}, {'connected_gene': 'BOK', 'score': 23.42}, {'connected_gene': 'D2HGDH', 'score': 20.64}, {'connected_gene': 'DTYMK', 'score': 20.0}, {'connected_gene': 'SEPT2', 'score': 13.18}, {'connected_gene': 'ATG4B', 'score': 11.93}, {'connected_gene': 'LINC01881', 'score': 10.86}, {'connected_gene': 'LOC100422094', 'score': 10.71}, {'connected_gene': 'PPP1R7', 'score': 9.92}, {'connected_gene': 'PASK', 'score': 9.92}, {'connected_gene': 'ANO7', 'score': 9.43}, {'connected_gene': 'RNA5SP122', 'score': 7.37}]
chr2 GH02I240620 240620385 240627600 1.92 [{'connected_gene': 'GPR35', 'score': 572.38}, {'connected_gene': 'DUSP28', 'score': 10.22}, {'connected_gene': 'CAPN10', 'score': 9.03}, {'connected_gene': 'LOC285191', 'score': 8.96}, {'connected_gene': 'PASK', 'score': 5.86}, {'connected_gene': 'AQP12B', 'score': 5.07}, {'connected_gene': 'AQP12A', 'score': 5.01}, {'connected_gene': 'MTERF4', 'score': 4.59}, {'connected_gene': 'RNPEPL1', 'score': 2.37}, {'connected_gene': 'LOC100420500', 'score': 0.25}]
chr2 GH02I240646 240646295 240646773 0.89 [{'connected_gene': 'LOC285191', 'score': 8.25}, {'connected_gene': 'DUSP28', 'score': 2.24}, {'connected_gene': 'GPR35', 'score': 1.79}, {'connected_gene': 'CAPN10', 'score': 1.57}, {'connected_gene': 'MTERF4', 'score': 1.18}, {'connected_gene': 'LOC100420500', 'score': 0.31}]
chr2 GH02I240432 240432942 240438533 2.43 [{'connected_gene': 'GPC1', 'score': 559.04}, {'connected_gene': 'GC02P240438', 'score': 550.77}, {'connected_gene': 'GC02P240437', 'score': 550.77}, {'connected_gene': 'ENSG00000223374', 'score': 19.74}, {'connected_gene': 'MTERF4', 'score': 12.83}, {'connected_gene': 'CAPN10-AS1', 'score': 12.02}, {'connected_gene': 'CAPN10', 'score': 10.54}, {'connected_gene': 'ANKMY1', 'score': 10.31}]
chr2 GH02I241161 241161354 241162864 0.43 [{'connected_gene': 'PASK', 'score': 26.41}, {'connected_gene': 'SEPT2', 'score': 6.41}, {'connected_gene': 'MTERF4', 'score': 5.86}, {'connected_gene': 'PPP1R7', 'score': 0.39}, {'connected_gene': 'GC02P241182', 'score': 0.37}]
chr2 GH02I241094 241094824 241098027 0.96 [{'connected_gene': 'PASK', 'score': 28.02}, {'connected_gene': 'MTERF4', 'score': 25.61}, {'connected_gene': 'PPP1R7', 'score': 11.83}, {'connected_gene': 'ENSG00000229996', 'score': 10.17}, {'connected_gene': 'GC02P241081', 'score': 0.39}, {'connected_gene': 'SNED1', 'score': 0.15}]
chr2 GH02I241091 241091707 241094415 1.11 [{'connected_gene': 'PASK', 'score': 28.33}, {'connected_gene': 'MTERF4', 'score': 18.12}, {'connected_gene': 'ANO7', 'score': 11.41}, {'connected_gene': 'PPP1R7', 'score': 11.24}, {'connected_gene': 'ENSG00000229996', 'score': 10.6}, {'connected_gene': 'D2HGDH', 'score': 9.73}, {'connected_gene': 'GC02P241081', 'score': 0.39}, {'connected_gene': 'SNED1', 'score': 0.15}]
chr2 GH02I240995 240995458 241000213 2.07 [{'connected_gene': 'SNED1', 'score': 558.12}, {'connected_gene': 'GC02P240999', 'score': 550.77}, {'connected_gene': 'SEPT2', 'score': 13.18}, {'connected_gene': 'MTERF4', 'score': 4.54}]
chr2 GH02I241279 241279375 241280200 0.99 [{'connected_gene': 'SEPT2', 'score': 39.51}, {'connected_gene': 'ANO7', 'score': 24.3}, {'connected_gene': 'HDLBP', 'score': 20.47}, {'connected_gene': 'PASK', 'score': 10.35}, {'connected_gene': 'PPP1R7', 'score': 10.34}, {'connected_gene': 'MTERF4', 'score': 10.29}, {'connected_gene': 'LOC101927509', 'score': 0.39}]
chr2 GH02I241287 241287376 241288787 0.2 [{'connected_gene': 'SEPT2', 'score': 29.61}, {'connected_gene': 'ANO7', 'score': 24.17}, {'connected_gene': 'HDLBP', 'score': 12.55}, {'connected_gene': 'MTERF4', 'score': 10.03}, {'connected_gene': 'LOC101927509', 'score': 0.34}]
chr2 GH02I241313 241313579 241318527 2.32 [{'connected_gene': 'SEPT2', 'score': 581.91}, {'connected_gene': 'HDLBP', 'score': 572.19}, {'connected_gene': 'FARP2', 'score': 24.99}, {'connected_gene': 'ANKMY1', 'score': 16.44}, {'connected_gene': 'ANO7', 'score': 13.63}, {'connected_gene': 'ENSG00000223374', 'score': 13.48}, {'connected_gene': 'LINC01238', 'score': 13.23}, {'connected_gene': 'D2HGDH', 'score': 12.29}, {'connected_gene': 'LINC01237', 'score': 11.31}, {'connected_gene': 'ING5', 'score': 11.29}, {'connected_gene': 'MTERF4', 'score': 11.23}, {'connected_gene': 'DTYMK', 'score': 10.47}, {'connected_gene': 'ATG4B', 'score': 10.11}, {'connected_gene': 'ENSG00000235351', 'score': 9.86}]
chr2 GH02I241078 241078401 241078800 0.92 [{'connected_gene': 'MTERF4', 'score': 19.71}, {'connected_gene': 'PPP1R7', 'score': 11.63}, {'connected_gene': 'PASK', 'score': 11.63}, {'connected_gene': 'ANO7', 'score': 11.15}, {'connected_gene': 'ENSG00000229996', 'score': 11.01}, {'connected_gene': 'SNED1', 'score': 10.61}, {'connected_gene': 'PIR42106', 'score': 0.77}, {'connected_gene': 'GC02P241081', 'score': 0.77}, {'connected_gene': 'GC02M241075', 'score': 0.77}]
chr2 GH02I240578 240578152 240581287 1.39 [{'connected_gene': 'MTERF4', 'score': 11.57}, {'connected_gene': 'ENSG00000223374', 'score': 11.39}, {'connected_gene': 'ANKMY1', 'score': 10.65}, {'connected_gene': 'FARP2', 'score': 10.09}, {'connected_gene': 'CAPN10', 'score': 7.46}, {'connected_gene': 'CAPN10-AS1', 'score': 6.66}, {'connected_gene': 'PIR33196', 'score': 0.44}, {'connected_gene': 'RNPEPL1', 'score': 0.39}]
chr2 GH02I241135 241135846 241135995 0.65 [{'connected_gene': 'MTERF4', 'score': 11.6}, {'connected_gene': 'ANO7', 'score': 10.86}, {'connected_gene': 'PPP1R7', 'score': 0.39}, {'connected_gene': 'PASK', 'score': 0.39}, {'connected_gene': 'ENSG00000235861', 'score': 0.37}]
chr2 GH02I241090 241090866 241091165 0.4 [{'connected_gene': 'MTERF4', 'score': 18.22}, {'connected_gene': 'ANO7', 'score': 11.41}, {'connected_gene': 'ENSG00000229996', 'score': 10.6}, {'connected_gene': 'SNED1', 'score': 1.57}, {'connected_gene': 'PASK', 'score': 1.39}, {'connected_gene': 'GC02P241081', 'score': 0.44}]
chr2 GH02I241125 241125609 241130021 0.78 [{'connected_gene': 'MTERF4', 'score': 23.59}, {'connected_gene': 'PASK', 'score': 16.66}, {'connected_gene': 'ENSG00000235861', 'score': 0.44}, {'connected_gene': 'PPP1R7', 'score': 0.34}]
chr2 GH02I241100 241100807 241103953 2.31 [{'connected_gene': 'MTERF4', 'score': 591.96}, {'connected_gene': 'ENSG00000223374', 'score': 39.86}, {'connected_gene': 'SNED1', 'score': 20.54}, {'connected_gene': 'PASK', 'score': 20.4}, {'connected_gene': 'D2HGDH', 'score': 20.28}, {'connected_gene': 'FARP2', 'score': 19.16}, {'connected_gene': 'ENSG00000235351', 'score': 11.59}, {'connected_gene': 'LINC01881', 'score': 11.36}, {'connected_gene': 'ING5', 'score': 11.27}, {'connected_gene': 'DTYMK', 'score': 10.66}, {'connected_gene': 'ANKMY1', 'score': 9.74}, {'connected_gene': 'ATG4B', 'score': 9.68}, {'connected_gene': 'PIR57971', 'score': 0.44}, {'connected_gene': 'GC02M241112', 'score': 0.44}, {'connected_gene': 'GC02P241081', 'score': 0.34}]
chr2 GH02I241098 241098866 241099716 0.54 [{'connected_gene': 'MTERF4', 'score': 10.58}, {'connected_gene': 'GC02P241081', 'score': 0.37}]
chr2 GH02I241505 241505105 241509841 2.06 [{'connected_gene': 'STK25', 'score': 550.77}, {'connected_gene': 'ING5', 'score': 16.25}, {'connected_gene': 'ATG4B', 'score': 14.92}, {'connected_gene': 'ENSG00000235351', 'score': 14.3}, {'connected_gene': 'MTERF4', 'score': 12.85}, {'connected_gene': 'CAPN10-AS1', 'score': 11.94}, {'connected_gene': 'SEPT2', 'score': 11.63}, {'connected_gene': 'CAPN10', 'score': 10.46}, {'connected_gene': 'FARP2', 'score': 10.33}, {'connected_gene': 'HDLBP', 'score': 6.32}, {'connected_gene': 'ANO7', 'score': 5.01}, {'connected_gene': 'LOC101930137', 'score': 0.34}]
chr2 GH02I241880 241880573 241883555 1.74 [{'connected_gene': 'LINC01237', 'score': 558.11}, {'connected_gene': 'LOC105373978', 'score': 550.77}, {'connected_gene': 'ENSG00000224272', 'score': 24.9}, {'connected_gene': 'ENSG00000223374', 'score': 20.57}, {'connected_gene': 'SNED1', 'score': 19.23}, {'connected_gene': 'D2HGDH', 'score': 18.98}, {'connected_gene': 'MTERF4', 'score': 17.89}, {'connected_gene': 'ING5', 'score': 12.1}, {'connected_gene': 'ATG4B', 'score': 11.63}, {'connected_gene': 'NEU4', 'score': 9.03}, {'connected_gene': 'GC02P241902', 'score': 0.34}]
chr2 GH02I241108 241108021 241113318 1.1 [{'connected_gene': 'PIR57971', 'score': 550.77}, {'connected_gene': 'GC02M241112', 'score': 550.77}, {'connected_gene': 'PASK', 'score': 35.67}, {'connected_gene': 'MTERF4', 'score': 24.8}, {'connected_gene': 'PPP1R7', 'score': 11.68}, {'connected_gene': 'ANO7', 'score': 11.16}, {'connected_gene': 'ENSG00000229996', 'score': 10.5}, {'connected_gene': 'LOC100422094', 'score': 5.21}, {'connected_gene': 'GC02P241081', 'score': 0.31}]
chr2 GH02I240986 240986701 240987600 1.12 [{'connected_gene': 'ENSG00000223991', 'score': 550.77}, {'connected_gene': 'SNED1', 'score': 7.73}, {'connected_gene': 'MTERF4', 'score': 4.76}, {'connected_gene': 'CROCC2', 'score': 0.18}]
chr2 GH02I240959 240959099 240964295 1.6 [{'connected_gene': 'ENSG00000223374', 'score': 16.57}, {'connected_gene': 'LOC200772', 'score': 12.77}, {'connected_gene': 'C2orf54', 'score': 9.1}, {'connected_gene': 'MTERF4', 'score': 4.59}, {'connected_gene': 'SNED1', 'score': 2.21}, {'connected_gene': 'GC02M240925', 'score': 0.44}, {'connected_gene': 'CROCC2', 'score': 0.22}]
chr2 GH02I241009 241009075 241011996 1.11 [{'connected_gene': 'ENSG00000229996', 'score': 550.77}, {'connected_gene': 'MTERF4', 'score': 5.98}, {'connected_gene': 'HDLBP', 'score': 5.23}, {'connected_gene': 'SEPT2', 'score': 4.61}, {'connected_gene': 'GC02P240999', 'score': 0.39}, {'connected_gene': 'SNED1', 'score': 0.39}, {'connected_gene': 'LOC105373970', 'score': 0.34}]
chr2 GH02I241063 241063154 241066225 0.56 [{'connected_gene': 'ENSG00000225521', 'score': 558.63}, {'connected_gene': 'MTERF4', 'score': 8.01}, {'connected_gene': 'PASK', 'score': 6.78}, {'connected_gene': 'GC02M241075', 'score': 0.44}, {'connected_gene': 'PIR42106', 'score': 0.44}, {'connected_gene': 'SNED1', 'score': 0.2}]
chr2 GH02I241543 241543994 241548408 1.18 [{'connected_gene': 'ENSG00000223374', 'score': 70.59}, {'connected_gene': 'MTERF4', 'score': 43.15}, {'connected_gene': 'ATG4B', 'score': 42.75}, {'connected_gene': 'ANKMY1', 'score': 36.36}, {'connected_gene': 'ING5', 'score': 30.3}, {'connected_gene': 'CAPN10', 'score': 23.98}, {'connected_gene': 'FARP2', 'score': 22.55}, {'connected_gene': 'SNED1', 'score': 21.25}, {'connected_gene': 'D2HGDH', 'score': 20.04}, {'connected_gene': 'DTYMK', 'score': 19.19}, {'connected_gene': 'CAPN10-AS1', 'score': 18.91}, {'connected_gene': 'SEPT2', 'score': 17.79}, {'connected_gene': 'ENSG00000235351', 'score': 17.1}, {'connected_gene': 'BOK', 'score': 14.04}, {'connected_gene': 'RTP5', 'score': 12.88}, {'connected_gene': 'LOC100422094', 'score': 11.52}, {'connected_gene': 'LINC01881', 'score': 10.85}, {'connected_gene': 'LOC105373974', 'score': 0.77}, {'connected_gene': 'BOK-AS1', 'score': 0.39}, {'connected_gene': 'STK25', 'score': 0.28}]
chr2 GH02I241894 241894310 241897206 0.97 [{'connected_gene': 'ENSG00000224272', 'score': 14.49}, {'connected_gene': 'LINC01237', 'score': 13.81}, {'connected_gene': 'ING5', 'score': 10.81}, {'connected_gene': 'NEU4', 'score': 9.13}, {'connected_gene': 'LOC285095', 'score': 8.78}, {'connected_gene': 'LINC01881', 'score': 7.05}, {'connected_gene': 'LINC01238', 'score': 6.16}, {'connected_gene': 'MTERF4', 'score': 4.77}, {'connected_gene': 'LINC01880', 'score': 4.39}, {'connected_gene': 'GC02P241902', 'score': 0.44}]

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