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
ENST00000359015 [[136878184, 136878956], [136879937, 136880014], [136882670, 136882783], [136883640, 136883753], [136888768, 136889012], [136901438, 136901544], [136904692, 136904878], [136913310, 136913479], [136913574, 136913752], [136922159, 136922180], [136922939, 136923117], [136926346, 136926504], [136932419, 136932525], [136934257, 136934394], [136935296, 136935424], [136943985, 136944119], [136958462, 136958544], [136960680, 136960776], [136963657, 136963707], [136972121, 136972229], [136977444, 136977598], [136980356, 136980516], [136990420, 136990533], [137015277, 137015448], [137017088, 137017195], [137018356, 137018525], [137019626, 137019820], [137026247, 137026271], [137041587, 137041727], [137112847, 137113656]] [[136878895, 136878956], [136879937, 136880014], [136882670, 136882783], [136883640, 136883753], [136888768, 136889012], [136901438, 136901544], [136904692, 136904878], [136913310, 136913479], [136913574, 136913752], [136922159, 136922180], [136922939, 136923117], [136926346, 136926504], [136932419, 136932525], [136934257, 136934394], [136935296, 136935424], [136943985, 136944119], [136958462, 136958544], [136960680, 136960776], [136963657, 136963707], [136972121, 136972229], [136977444, 136977598], [136980356, 136980516], [136990420, 136990533], [137015277, 137015448], [137017088, 137017195], [137018356, 137018525], [137019626, 137019820], [137026247, 137026271], [137041587, 137041727], [137112847, 137113295]]
ENST00000355845 [[136878362, 136878956], [136879937, 136880014], [136882670, 136882783], [136883640, 136883753], [136888768, 136889012], [136901438, 136901544], [136904692, 136904878], [136913310, 136913479], [136913574, 136913752], [136922159, 136922180], [136922939, 136923117], [136926346, 136926504], [136932419, 136932525], [136934257, 136934394], [136935296, 136935424], [136958462, 136958544], [136960680, 136960776], [136963657, 136963707], [136972121, 136972229], [136977444, 136977599]] [[136878895, 136878956], [136879937, 136880014], [136882670, 136882783], [136883640, 136883753], [136888768, 136889012], [136901438, 136901544], [136904692, 136904878], [136913310, 136913479], [136913574, 136913752], [136922159, 136922180], [136922939, 136923117], [136926346, 136926504], [136932419, 136932525], [136934257, 136934394], [136935296, 136935315]]
ENST00000463140 [[136901471, 136901544], [136904692, 136904878], [136905539, 136905645]] None
NM_005923 [[136878186, 136878956], [136879937, 136880014], [136882670, 136882783], [136883640, 136883753], [136888768, 136889012], [136901438, 136901544], [136904692, 136904878], [136913310, 136913479], [136913574, 136913752], [136922159, 136922180], [136922939, 136923117], [136926346, 136926504], [136932419, 136932525], [136934257, 136934394], [136935296, 136935424], [136943985, 136944119], [136958462, 136958544], [136960680, 136960776], [136963657, 136963707], [136972121, 136972229], [136977444, 136977598], [136980356, 136980516], [136990420, 136990533], [137015277, 137015448], [137017088, 137017195], [137018356, 137018525], [137019626, 137019820], [137026247, 137026271], [137041587, 137041727], [137112847, 137113656]] [[136878895, 136878956], [136879937, 136880014], [136882670, 136882783], [136883640, 136883753], [136888768, 136889012], [136901438, 136901544], [136904692, 136904878], [136913310, 136913479], [136913574, 136913752], [136922159, 136922180], [136922939, 136923117], [136926346, 136926504], [136932419, 136932525], [136934257, 136934394], [136935296, 136935424], [136943985, 136944119], [136958462, 136958544], [136960680, 136960776], [136963657, 136963707], [136972121, 136972229], [136977444, 136977598], [136980356, 136980516], [136990420, 136990533], [137015277, 137015448], [137017088, 137017195], [137018356, 137018525], [137019626, 137019820], [137026247, 137026271], [137041587, 137041727], [137112847, 137113295]]
Promoter
Chrom Start End Description
chr6 137113489 137113569 CAGE_peak_1_at_MAP3K5_5end
chr6 137113604 137113666 CAGE_peak_3_at_MAP3K5_5end
chr6 137114069 137114080 CAGE_peak_15_at_MAP3K5_5end
chr6 137114128 137114139 CAGE_peak_18_at_MAP3K5_5end
chr6 137114167 137114241 CAGE_peak_2_at_MAP3K5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I136760 136760035 136769197 1.55 [{'connected_gene': 'BCLAF1', 'score': 27.34}, {'connected_gene': 'PEX7', 'score': 26.39}, {'connected_gene': 'MAP3K5', 'score': 14.83}, {'connected_gene': 'LOC101928461', 'score': 10.29}, {'connected_gene': 'RNA5SP219', 'score': 10.29}, {'connected_gene': 'LOC101928429', 'score': 0.37}]
chr6 GH06I136735 136735542 136740579 0.9 [{'connected_gene': 'BCLAF1', 'score': 29.9}, {'connected_gene': 'PEX7', 'score': 13.17}, {'connected_gene': 'MAP3K5', 'score': 13.02}, {'connected_gene': 'RNA5SP219', 'score': 11.46}, {'connected_gene': 'LOC101928461', 'score': 11.46}, {'connected_gene': 'LOC101928429', 'score': 0.25}]
chr6 GH06I136749 136749503 136754535 1.22 [{'connected_gene': 'BCLAF1', 'score': 14.08}, {'connected_gene': 'PEX7', 'score': 12.73}, {'connected_gene': 'LOC101928429', 'score': 0.29}, {'connected_gene': 'MAP3K5', 'score': 0.26}, {'connected_gene': 'RNA5SP219', 'score': 0.13}]
chr6 GH06I136719 136719401 136721139 0.95 [{'connected_gene': 'BCLAF1', 'score': 18.9}, {'connected_gene': 'MAP3K5', 'score': 12.32}, {'connected_gene': 'PEX7', 'score': 10.62}, {'connected_gene': 'LOC101928429', 'score': 0.21}, {'connected_gene': 'RNA5SP219', 'score': 0.16}]
chr6 GH06I136608 136607343 136607492 0.9 [{'connected_gene': 'BCLAF1', 'score': 34.42}, {'connected_gene': 'RNA5SP219', 'score': 13.0}, {'connected_gene': 'LOC101928461', 'score': 13.0}, {'connected_gene': 'MAP3K5', 'score': 11.86}, {'connected_gene': 'PEX7', 'score': 10.48}, {'connected_gene': 'MAP7', 'score': 0.22}]
chr6 GH06I136565 136565618 136568482 0.85 [{'connected_gene': 'MAP7', 'score': 29.52}, {'connected_gene': 'BCLAF1', 'score': 18.92}, {'connected_gene': 'LOC101928461', 'score': 0.21}, {'connected_gene': 'MAP3K5', 'score': 0.07}]
chr6 GH06I136585 136585564 136588303 1.17 [{'connected_gene': 'MAP7', 'score': 29.33}, {'connected_gene': 'BCLAF1', 'score': 16.41}, {'connected_gene': 'RNA5SP219', 'score': 11.18}, {'connected_gene': 'LOC101928461', 'score': 11.18}, {'connected_gene': 'MAP3K5', 'score': 0.08}]
chr6 GH06I136564 136564463 136564612 0.38 [{'connected_gene': 'MAP7', 'score': 0.39}, {'connected_gene': 'LOC101928461', 'score': 0.21}, {'connected_gene': 'MAP3K5', 'score': 0.07}]
chr6 GH06I136582 136582196 136584284 0.89 [{'connected_gene': 'MAP7', 'score': 25.3}, {'connected_gene': 'RNA5SP219', 'score': 11.43}, {'connected_gene': 'LOC101928461', 'score': 11.43}, {'connected_gene': 'MAP3K5', 'score': 0.08}]
chr6 GH06I136770 136770919 136776028 1.38 [{'connected_gene': 'PEX7', 'score': 27.32}, {'connected_gene': 'BCLAF1', 'score': 12.23}, {'connected_gene': 'RNA5SP219', 'score': 10.28}, {'connected_gene': 'LOC101928461', 'score': 10.28}, {'connected_gene': 'LOC101928429', 'score': 0.39}, {'connected_gene': 'MAP3K5', 'score': 0.37}]
chr6 GH06I136716 136716002 136718178 0.89 [{'connected_gene': 'PEX7', 'score': 13.17}, {'connected_gene': 'MAP3K5', 'score': 12.31}, {'connected_gene': 'LOC101928429', 'score': 0.2}, {'connected_gene': 'RNA5SP219', 'score': 0.17}]
chr6 GH06I136696 136696323 136697343 0.46 [{'connected_gene': 'PEX7', 'score': 19.37}, {'connected_gene': 'MAP3K5', 'score': 13.01}, {'connected_gene': 'RNA5SP219', 'score': 11.74}, {'connected_gene': 'LOC101928461', 'score': 11.74}, {'connected_gene': 'LOC101928429', 'score': 0.17}]
chr6 GH06I136723 136723903 136724112 0.64 [{'connected_gene': 'PEX7', 'score': 23.03}, {'connected_gene': 'MAP3K5', 'score': 11.36}, {'connected_gene': 'RNA5SP219', 'score': 10.83}, {'connected_gene': 'LOC101928461', 'score': 10.83}, {'connected_gene': 'LOC101928429', 'score': 0.21}]
chr6 GH06I136820 136820703 136820852 0.2 [{'connected_gene': 'PEX7', 'score': 568.92}, {'connected_gene': 'MAP3K5', 'score': 0.31}]
chr6 GH06I136781 136781201 136781400 0.51 [{'connected_gene': 'PEX7', 'score': 16.96}, {'connected_gene': 'LOC101928429', 'score': 0.77}, {'connected_gene': 'MAP3K5', 'score': 0.39}, {'connected_gene': 'RNA5SP219', 'score': 0.1}]
chr6 GH06I136756 136756202 136757999 1.09 [{'connected_gene': 'PEX7', 'score': 10.07}, {'connected_gene': 'LOC101928429', 'score': 0.31}, {'connected_gene': 'MAP3K5', 'score': 0.28}, {'connected_gene': 'RNA5SP219', 'score': 0.13}]
chr6 GH06I136730 136730136 136731734 0.63 [{'connected_gene': 'PEX7', 'score': 12.88}, {'connected_gene': 'RNA5SP219', 'score': 10.32}, {'connected_gene': 'LOC101928461', 'score': 10.32}, {'connected_gene': 'LOC101928429', 'score': 0.23}, {'connected_gene': 'MAP3K5', 'score': 0.21}]
chr6 GH06I136700 136700243 136700392 0.64 [{'connected_gene': 'PEX7', 'score': 20.0}, {'connected_gene': 'RNA5SP219', 'score': 0.19}, {'connected_gene': 'LOC101928429', 'score': 0.18}, {'connected_gene': 'MAP3K5', 'score': 0.16}]
chr6 GH06I136782 136781763 136793891 2.51 [{'connected_gene': 'MAP3K5', 'score': 556.72}, {'connected_gene': 'BCLAF1', 'score': 36.69}, {'connected_gene': 'PEX7', 'score': 17.01}, {'connected_gene': 'MTFR2', 'score': 9.79}, {'connected_gene': 'IFNGR1', 'score': 7.39}, {'connected_gene': 'LOC101928429', 'score': 0.77}]
chr6 GH06I136718 136718201 136718400 0.31 [{'connected_gene': 'MAP3K5', 'score': 12.32}, {'connected_gene': 'PEX7', 'score': 10.14}, {'connected_gene': 'LOC101928429', 'score': 0.2}, {'connected_gene': 'RNA5SP219', 'score': 0.17}]
chr6 GH06I136643 136643723 136644871 1.37 [{'connected_gene': 'MAP3K5', 'score': 12.14}, {'connected_gene': 'PEX7', 'score': 11.28}, {'connected_gene': 'RNA5SP219', 'score': 0.39}, {'connected_gene': 'LOC101928461', 'score': 0.37}, {'connected_gene': 'LOC101928429', 'score': 0.12}]
chr6 GH06I136646 136646358 136648918 0.92 [{'connected_gene': 'MAP3K5', 'score': 12.45}, {'connected_gene': 'PEX7', 'score': 11.35}, {'connected_gene': 'RNA5SP219', 'score': 0.37}, {'connected_gene': 'LOC101928461', 'score': 0.37}, {'connected_gene': 'LOC101928429', 'score': 0.12}]
chr6 GH06I136640 136640663 136640812 0.2 [{'connected_gene': 'MAP3K5', 'score': 12.13}, {'connected_gene': 'PEX7', 'score': 11.27}, {'connected_gene': 'RNA5SP219', 'score': 0.39}, {'connected_gene': 'LOC101928461', 'score': 0.39}, {'connected_gene': 'LOC101928429', 'score': 0.11}]
chr6 GH06I136599 136599145 136600180 0.2 [{'connected_gene': 'MAP3K5', 'score': 11.99}, {'connected_gene': 'LOC101928461', 'score': 11.61}, {'connected_gene': 'RNA5SP219', 'score': 11.59}, {'connected_gene': 'MAP7', 'score': 0.25}]
chr6 GH06I136720 136718623 136718772 0.46 [{'connected_gene': 'MAP3K5', 'score': 12.32}, {'connected_gene': 'LOC101928429', 'score': 0.2}, {'connected_gene': 'RNA5SP219', 'score': 0.17}]
chr6 GH06I136600 136600832 136601045 0.52 [{'connected_gene': 'MAP3K5', 'score': 11.99}, {'connected_gene': 'RNA5SP219', 'score': 11.61}, {'connected_gene': 'LOC101928461', 'score': 11.61}, {'connected_gene': 'MAP7', 'score': 0.23}]
chr6 GH06I136591 136591284 136595571 1.01 [{'connected_gene': 'MAP3K5', 'score': 11.99}, {'connected_gene': 'RNA5SP219', 'score': 11.57}, {'connected_gene': 'LOC101928461', 'score': 11.57}, {'connected_gene': 'MAP7', 'score': 0.26}]
chr6 GH06I136695 136695543 136695692 0.2 [{'connected_gene': 'MAP3K5', 'score': 11.77}, {'connected_gene': 'RNA5SP219', 'score': 11.74}, {'connected_gene': 'LOC101928461', 'score': 11.74}, {'connected_gene': 'LOC101928429', 'score': 0.17}]
chr6 GH06I136677 136677405 136678592 0.31 [{'connected_gene': 'MAP3K5', 'score': 12.21}, {'connected_gene': 'RNA5SP219', 'score': 11.89}, {'connected_gene': 'LOC101928461', 'score': 11.89}, {'connected_gene': 'LOC101928429', 'score': 0.14}]
chr6 GH06I137230 137230001 137235277 1.5 [{'connected_gene': 'IFNGR1', 'score': 17.41}, {'connected_gene': 'MAP3K5', 'score': 5.33}, {'connected_gene': 'GC06P137179', 'score': 0.23}, {'connected_gene': 'LOC105378017', 'score': 0.18}]
chr6 GH06I137222 137222003 137225545 1.44 [{'connected_gene': 'IFNGR1', 'score': 19.31}, {'connected_gene': 'MAP3K5', 'score': 10.42}, {'connected_gene': 'GC06P137179', 'score': 0.26}, {'connected_gene': 'LOC105378017', 'score': 0.16}]
chr6 GH06I137423 137423124 137424674 0.62 [{'connected_gene': 'OLIG3', 'score': 11.04}, {'connected_gene': 'MAP3K5', 'score': 4.54}, {'connected_gene': 'LOC102723633', 'score': 0.44}, {'connected_gene': 'PIR59411', 'score': 0.19}]
chr6 GH06I137236 137236601 137239000 1.17 [{'connected_gene': 'IL22RA2', 'score': 11.37}, {'connected_gene': 'OLIG3', 'score': 8.76}, {'connected_gene': 'IFNGR1', 'score': 6.59}, {'connected_gene': 'MAP3K5', 'score': 1.17}, {'connected_gene': 'GC06P137179', 'score': 0.22}, {'connected_gene': 'LOC105378017', 'score': 0.18}]
chr6 GH06I136590 136590866 136591229 0.39 [{'connected_gene': 'LOC101928461', 'score': 0.28}, {'connected_gene': 'MAP7', 'score': 0.26}, {'connected_gene': 'MAP3K5', 'score': 0.08}]
chr6 GH06I136604 136604413 136605388 0.49 [{'connected_gene': 'LOC101928461', 'score': 13.0}, {'connected_gene': 'RNA5SP219', 'score': 12.97}, {'connected_gene': 'BCLAF1', 'score': 12.33}, {'connected_gene': 'MAP3K5', 'score': 11.86}, {'connected_gene': 'PEX7', 'score': 10.48}, {'connected_gene': 'MAP7', 'score': 0.23}]
chr6 GH06I136758 136758801 136759200 0.4 [{'connected_gene': 'LOC101928429', 'score': 0.31}, {'connected_gene': 'MAP3K5', 'score': 0.29}, {'connected_gene': 'RNA5SP219', 'score': 0.13}]
chr6 GH06I136607 136607961 136612094 1.19 [{'connected_gene': 'RNA5SP219', 'score': 13.0}, {'connected_gene': 'MAP3K5', 'score': 11.87}, {'connected_gene': 'PEX7', 'score': 10.48}, {'connected_gene': 'LOC101928461', 'score': 0.37}, {'connected_gene': 'MAP7', 'score': 0.22}]
chr6 GH06I136668 136668843 136669728 0.72 [{'connected_gene': 'RNA5SP219', 'score': 11.99}, {'connected_gene': 'LOC101928461', 'score': 11.97}, {'connected_gene': 'PEX7', 'score': 10.23}, {'connected_gene': 'LOC101928429', 'score': 0.14}, {'connected_gene': 'MAP3K5', 'score': 0.13}]
chr6 GH06I136606 136606483 136606716 0.33 [{'connected_gene': 'RNA5SP219', 'score': 13.0}, {'connected_gene': 'LOC101928461', 'score': 13.0}, {'connected_gene': 'MAP3K5', 'score': 11.86}, {'connected_gene': 'PEX7', 'score': 10.48}, {'connected_gene': 'MAP7', 'score': 0.22}]
chr6 GH06I136662 136662257 136662320 0.22 [{'connected_gene': 'RNA5SP219', 'score': 12.61}, {'connected_gene': 'LOC101928461', 'score': 12.61}, {'connected_gene': 'MAP3K5', 'score': 11.7}, {'connected_gene': 'LOC101928429', 'score': 0.13}]
chr6 GH06I136703 136703190 136703603 0.31 [{'connected_gene': 'RNA5SP219', 'score': 12.37}, {'connected_gene': 'LOC101928461', 'score': 12.37}, {'connected_gene': 'MAP3K5', 'score': 11.35}, {'connected_gene': 'LOC101928429', 'score': 0.18}]
chr6 GH06I136682 136682423 136682572 0.2 [{'connected_gene': 'RNA5SP219', 'score': 0.23}, {'connected_gene': 'LOC101928429', 'score': 0.15}, {'connected_gene': 'MAP3K5', 'score': 0.14}]
chr6 GH06I136685 136685611 136686064 0.58 [{'connected_gene': 'RNA5SP219', 'score': 0.22}, {'connected_gene': 'LOC101928429', 'score': 0.15}, {'connected_gene': 'MAP3K5', 'score': 0.14}]
chr6 GH06I137209 137209436 137209721 0.69 [{'connected_gene': 'GC06P137209', 'score': 550.77}, {'connected_gene': 'IFNGR1', 'score': 8.43}, {'connected_gene': 'MAP3K5', 'score': 2.02}, {'connected_gene': 'GC06P137179', 'score': 0.29}]

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