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
ENST00000331710 [[64845659, 64845967], [64849619, 64849737], [64853968, 64854109], [64858113, 64858243], [64860680, 64860862], [64868009, 64868170], [64873791, 64873902], [64875621, 64875801], [64878082, 64878279], [64879234, 64879293], [64879705, 64879797], [64882266, 64882368], [64883820, 64883899], [64889262, 64889384], [64889478, 64889555], [64890146, 64890186], [64890728, 64890830], [64890942, 64891039], [64891427, 64891534], [64891747, 64891819], [64895109, 64895888]] [[64849650, 64849737], [64853968, 64854109], [64858113, 64858243], [64860680, 64860862], [64868009, 64868170], [64873791, 64873902], [64875621, 64875801], [64878082, 64878279], [64879234, 64879293], [64879705, 64879797], [64882266, 64882368], [64883820, 64883899], [64889262, 64889384], [64889478, 64889555], [64890146, 64890186], [64890728, 64890830], [64890942, 64891039], [64891427, 64891534], [64891747, 64891819], [64895109, 64895161]]
ENST00000536906 [[64878186, 64878279], [64879234, 64879797], [64882266, 64882366]] None
ENST00000538890 [[64845969, 64846175], [64849619, 64849737], [64853968, 64854109], [64858113, 64858195]] [[64849650, 64849737], [64853968, 64854109], [64858113, 64858195]]
ENST00000540417 [[64846230, 64846418], [64849619, 64849737], [64853968, 64854109], [64858113, 64858179]] [[64849650, 64849737], [64853968, 64854109], [64858113, 64858179]]
ENST00000539810 [[64846254, 64846418], [64849696, 64849737], [64853968, 64854109], [64858113, 64858186]] [[64854037, 64854109], [64858113, 64858186]]
ENST00000545025 [[64877820, 64878279], [64879234, 64879266]] None
ENST00000541805 [[64889147, 64889384], [64889478, 64889711]] None
ENST00000545392 [[64890793, 64890830], [64890942, 64891039], [64891427, 64891701]] None
NM_013254 [[64845839, 64845967], [64849619, 64849737], [64853968, 64854109], [64858113, 64858243], [64860680, 64860862], [64868009, 64868170], [64873791, 64873902], [64875621, 64875801], [64878082, 64878279], [64879234, 64879293], [64879705, 64879797], [64882266, 64882368], [64883820, 64883899], [64889262, 64889384], [64889478, 64889555], [64890146, 64890186], [64890728, 64890830], [64890942, 64891039], [64891427, 64891534], [64891747, 64891819], [64895109, 64895899]] [[64849650, 64849737], [64853968, 64854109], [64858113, 64858243], [64860680, 64860862], [64868009, 64868170], [64873791, 64873902], [64875621, 64875801], [64878082, 64878279], [64879234, 64879293], [64879705, 64879797], [64882266, 64882368], [64883820, 64883899], [64889262, 64889384], [64889478, 64889555], [64890146, 64890186], [64890728, 64890830], [64890942, 64891039], [64891427, 64891534], [64891747, 64891819], [64895109, 64895161]]
Promoter
Chrom Start End Description
chr12 64845689 64845702 CAGE_peak_3_at_TBK1_5end
chr12 64845781 64845792 CAGE_peak_5_at_TBK1_5end
chr12 64845864 64845949 CAGE_peak_1_at_TBK1_5end
chr12 64846129 64846148 CAGE_peak_2_at_TBK1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I063842 63842945 63847322 2.05 [{'connected_gene': 'SRGAP1', 'score': 550.77}, {'connected_gene': 'PABPC1P4', 'score': 13.83}, {'connected_gene': 'TBK1', 'score': 13.52}, {'connected_gene': 'LOC100420899', 'score': 10.72}, {'connected_gene': 'DPY19L2', 'score': 10.62}, {'connected_gene': 'GC12P063830', 'score': 0.39}, {'connected_gene': 'RPL36AP41', 'score': 0.31}]
chr12 GH12I064085 64085486 64090701 1.48 [{'connected_gene': 'SRGAP1', 'score': 16.48}, {'connected_gene': 'ENSG00000255629', 'score': 11.11}, {'connected_gene': 'RNU6-1009P', 'score': 9.58}, {'connected_gene': 'TBK1', 'score': 6.06}, {'connected_gene': 'C12orf66', 'score': 1.3}, {'connected_gene': 'ENSG00000255886', 'score': 0.44}, {'connected_gene': 'ENSG00000255780', 'score': 0.22}]
chr12 GH12I063821 63821578 63823468 0.99 [{'connected_gene': 'PABPC1P4', 'score': 557.87}, {'connected_gene': 'TMEM5-AS1', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 10.63}, {'connected_gene': 'RPS11P6', 'score': 10.58}, {'connected_gene': 'XPOT', 'score': 9.83}, {'connected_gene': 'LOC100420899', 'score': 9.78}, {'connected_gene': 'RNU6-1009P', 'score': 9.28}, {'connected_gene': 'GC12M063829', 'score': 0.44}]
chr12 GH12I064549 64549641 64550001 0.97 [{'connected_gene': 'TBK1', 'score': 13.64}, {'connected_gene': 'RASSF3', 'score': 12.16}, {'connected_gene': 'LOC105369804', 'score': 12.1}, {'connected_gene': 'ENSG00000223294', 'score': 11.17}, {'connected_gene': 'PIR55043', 'score': 0.44}, {'connected_gene': 'GC12P064576', 'score': 0.31}]
chr12 GH12I064469 64469598 64470252 0.2 [{'connected_gene': 'TBK1', 'score': 8.67}, {'connected_gene': 'ENSG00000277895', 'score': 0.37}, {'connected_gene': 'RASSF3', 'score': 0.28}]
chr12 GH12I064746 64746107 64748739 0.84 [{'connected_gene': 'TBK1', 'score': 15.69}, {'connected_gene': 'GNS', 'score': 10.16}, {'connected_gene': 'RASSF3', 'score': 3.16}, {'connected_gene': 'LEMD3', 'score': 1.65}, {'connected_gene': 'PIR33058', 'score': 0.77}, {'connected_gene': 'GC12P064723', 'score': 0.31}, {'connected_gene': 'GC12P064711', 'score': 0.28}]
chr12 GH12I064385 64385063 64386319 0.49 [{'connected_gene': 'TBK1', 'score': 6.26}, {'connected_gene': 'C12orf56', 'score': 5.4}, {'connected_gene': 'ENSG00000238440', 'score': 0.31}, {'connected_gene': 'RPS11P6', 'score': 0.1}]
chr12 GH12I064461 64461268 64462537 0.7 [{'connected_gene': 'TBK1', 'score': 13.51}, {'connected_gene': 'XPOT', 'score': 10.25}, {'connected_gene': 'RPS11P6', 'score': 10.1}, {'connected_gene': 'RASSF3', 'score': 9.82}, {'connected_gene': 'LOC105369804', 'score': 9.69}, {'connected_gene': 'C12orf66', 'score': 1.18}, {'connected_gene': 'ENSG00000277895', 'score': 0.44}]
chr12 GH12I064450 64450584 64454150 2.07 [{'connected_gene': 'TBK1', 'score': 558.21}, {'connected_gene': 'ENSG00000277895', 'score': 550.77}, {'connected_gene': 'XPOT', 'score': 11.07}, {'connected_gene': 'RPS11P6', 'score': 10.9}]
chr12 GH12I064455 64455519 64458295 1.02 [{'connected_gene': 'TBK1', 'score': 10.03}, {'connected_gene': 'XPOT', 'score': 5.22}, {'connected_gene': 'ENSG00000277895', 'score': 0.77}, {'connected_gene': 'RASSF3', 'score': 0.23}]
chr12 GH12I064361 64361954 64363817 0.46 [{'connected_gene': 'TBK1', 'score': 6.48}, {'connected_gene': 'XPOT', 'score': 5.25}, {'connected_gene': 'ENSG00000238440', 'score': 0.44}, {'connected_gene': 'C12orf56', 'score': 0.31}, {'connected_gene': 'RPS11P6', 'score': 0.11}]
chr12 GH12I064800 64800618 64801053 0.65 [{'connected_gene': 'TBK1', 'score': 11.42}, {'connected_gene': 'RNU6-166P', 'score': 10.6}, {'connected_gene': 'RASSF3', 'score': 2.47}, {'connected_gene': 'LEMD3', 'score': 1.65}, {'connected_gene': 'GNS', 'score': 1.35}, {'connected_gene': 'TBC1D30', 'score': 0.37}, {'connected_gene': 'GC12M064868', 'score': 0.2}, {'connected_gene': 'GC12P064723', 'score': 0.18}, {'connected_gene': 'GC12P064711', 'score': 0.17}]
chr12 GH12I063955 63955742 63956595 1.1 [{'connected_gene': 'TBK1', 'score': 15.73}, {'connected_gene': 'GC12P063998', 'score': 0.26}, {'connected_gene': 'LOC100419700', 'score': 0.2}, {'connected_gene': 'SRGAP1', 'score': 0.14}]
chr12 GH12I064594 64594601 64596795 1.04 [{'connected_gene': 'RASSF3', 'score': 13.87}, {'connected_gene': 'MIR548C', 'score': 11.58}, {'connected_gene': 'TBK1', 'score': 3.33}, {'connected_gene': 'GC12P064587', 'score': 0.44}, {'connected_gene': 'LOC105369804', 'score': 0.39}]
chr12 GH12I064607 64607939 64613865 2.59 [{'connected_gene': 'RASSF3', 'score': 562.13}, {'connected_gene': 'LOC105369804', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 28.56}, {'connected_gene': 'LOC100420899', 'score': 10.02}, {'connected_gene': 'ATP6V1E1P3', 'score': 4.76}, {'connected_gene': 'C12orf66', 'score': 3.33}, {'connected_gene': 'GNS', 'score': 1.74}, {'connected_gene': 'GC12P064623', 'score': 0.39}]
chr12 GH12I064756 64756154 64760693 2.07 [{'connected_gene': 'GNS', 'score': 573.38}, {'connected_gene': 'ENSG00000215159', 'score': 550.77}, {'connected_gene': 'LEMD3', 'score': 23.44}, {'connected_gene': 'TBK1', 'score': 18.77}, {'connected_gene': 'LOC100420899', 'score': 13.23}, {'connected_gene': 'ENSG00000250280', 'score': 10.31}, {'connected_gene': 'PIR33058', 'score': 0.39}, {'connected_gene': 'GC12P064723', 'score': 0.28}, {'connected_gene': 'GC12P064711', 'score': 0.25}]
chr12 GH12I064560 64560118 64562013 1.31 [{'connected_gene': 'LEMD3', 'score': 20.97}, {'connected_gene': 'TBK1', 'score': 20.75}, {'connected_gene': 'PABPC1P4', 'score': 10.78}, {'connected_gene': 'RASSF3', 'score': 2.38}, {'connected_gene': 'C12orf66', 'score': 1.45}, {'connected_gene': 'GC12P064576', 'score': 0.39}, {'connected_gene': 'PIR55043', 'score': 0.37}]
chr12 GH12I064664 64664402 64686209 1.77 [{'connected_gene': 'LEMD3', 'score': 29.31}, {'connected_gene': 'TBK1', 'score': 22.84}, {'connected_gene': 'RASSF3', 'score': 19.48}, {'connected_gene': 'LOC100420899', 'score': 13.25}, {'connected_gene': 'LOC105369804', 'score': 12.44}, {'connected_gene': 'MIR548C', 'score': 12.18}, {'connected_gene': 'ENSG00000223294', 'score': 10.84}, {'connected_gene': 'GNS', 'score': 4.57}, {'connected_gene': 'C12orf66', 'score': 4.14}, {'connected_gene': 'ENSG00000280320', 'score': 0.34}, {'connected_gene': 'ENSG00000256314', 'score': 0.34}]
chr12 GH12I065168 65168527 65172401 2.3 [{'connected_gene': 'LEMD3', 'score': 570.42}, {'connected_gene': 'ENSG00000276853', 'score': 550.77}, {'connected_gene': 'ENSG00000250280', 'score': 21.17}, {'connected_gene': 'TBK1', 'score': 20.73}, {'connected_gene': 'MSRB3', 'score': 10.89}]
chr12 GH12I064778 64778396 64783090 1.73 [{'connected_gene': 'TBC1D30', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 29.91}, {'connected_gene': 'GNS', 'score': 20.07}, {'connected_gene': 'PABPC1P4', 'score': 18.76}, {'connected_gene': 'LEMD3', 'score': 16.52}, {'connected_gene': 'LOC100420899', 'score': 9.8}, {'connected_gene': 'RASSF3', 'score': 3.65}, {'connected_gene': 'GC12P064764', 'score': 0.37}, {'connected_gene': 'ENSG00000215159', 'score': 0.34}, {'connected_gene': 'GC12P064723', 'score': 0.21}, {'connected_gene': 'GC12P064711', 'score': 0.2}]
chr12 GH12I064824 64824154 64826041 1.39 [{'connected_gene': 'TBC1D30', 'score': 550.26}, {'connected_gene': 'LEMD3', 'score': 11.62}, {'connected_gene': 'LOC100420899', 'score': 11.11}, {'connected_gene': 'TBK1', 'score': 10.79}, {'connected_gene': 'ENSG00000250280', 'score': 10.33}, {'connected_gene': 'RNU6-166P', 'score': 9.75}, {'connected_gene': 'GC12M064868', 'score': 0.26}, {'connected_gene': 'GC12P064711', 'score': 0.14}]
chr12 GH12I064390 64390301 64391001 1.49 [{'connected_gene': 'C12orf56', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 7.91}, {'connected_gene': 'ENSG00000238440', 'score': 0.29}, {'connected_gene': 'RPS11P6', 'score': 0.1}]
chr12 GH12I064458 64458605 64460297 0.74 [{'connected_gene': 'XPOT', 'score': 10.25}, {'connected_gene': 'RPS11P6', 'score': 10.1}, {'connected_gene': 'RASSF3', 'score': 9.82}, {'connected_gene': 'LOC105369804', 'score': 9.68}, {'connected_gene': 'TBK1', 'score': 6.53}, {'connected_gene': 'ENSG00000277895', 'score': 0.44}]
chr12 GH12I064403 64403281 64406288 2.11 [{'connected_gene': 'XPOT', 'score': 550.77}, {'connected_gene': 'LEMD3', 'score': 39.97}, {'connected_gene': 'TBK1', 'score': 36.89}, {'connected_gene': 'SRGAP1', 'score': 11.38}, {'connected_gene': 'ENSG00000250280', 'score': 10.3}, {'connected_gene': 'PABPC1P4', 'score': 10.07}, {'connected_gene': 'C12orf56', 'score': 5.49}, {'connected_gene': 'LOC100420899', 'score': 0.28}]
chr12 GH12I064583 64583202 64584869 0.84 [{'connected_gene': 'LOC105369804', 'score': 12.47}, {'connected_gene': 'RASSF3', 'score': 12.34}, {'connected_gene': 'MIR548C', 'score': 10.88}, {'connected_gene': 'TBK1', 'score': 9.97}, {'connected_gene': 'GC12P064587', 'score': 0.77}, {'connected_gene': 'ENSG00000223294', 'score': 0.44}]
chr12 GH12I064618 64618569 64628681 2.07 [{'connected_gene': 'GC12P064623', 'score': 550.77}, {'connected_gene': 'MIR548C', 'score': 550.77}, {'connected_gene': 'MIR548Z', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 16.4}, {'connected_gene': 'RASSF3', 'score': 9.27}, {'connected_gene': 'ATP6V1E1P3', 'score': 5.1}, {'connected_gene': 'GNS', 'score': 5.01}, {'connected_gene': 'ENSG00000225195', 'score': 0.77}]
chr12 GH12I064097 64097101 64100215 0.92 [{'connected_gene': 'ENSG00000255886', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 4.49}, {'connected_gene': 'GC12M064120', 'score': 0.31}, {'connected_gene': 'LOC105369798', 'score': 0.29}, {'connected_gene': 'SRGAP1', 'score': 0.07}]

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