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
ENST00000564123 [[56500747, 56500886], [56518672, 56518779], [56519501, 56519650]] [[56518672, 56518779], [56519501, 56519650]]
ENST00000564459 [[56504314, 56504526], [56518672, 56518779], [56519501, 56519650], [56530878, 56530991], [56531654, 56531714]] [[56518672, 56518779], [56519501, 56519650], [56530878, 56530991], [56531654, 56531714]]
ENST00000568104 [[56518256, 56518779], [56519501, 56519650], [56530878, 56530991], [56532348, 56532480], [56533689, 56533819], [56534765, 56534937], [56535264, 56535409], [56536228, 56536368], [56536584, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56553657, 56553953]] [[56518672, 56518779], [56519501, 56519650], [56530878, 56530991], [56532348, 56532480], [56533689, 56533819], [56534765, 56534937], [56535264, 56535409], [56536228, 56536368], [56536584, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56553657, 56553774]]
ENST00000565781 [[56518296, 56518779], [56519501, 56519650], [56530878, 56530991], [56531654, 56531792], [56532348, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56553868, 56553999]] None
ENST00000245157 [[56518296, 56518779], [56519501, 56519650], [56530878, 56530991], [56531654, 56531792], [56532348, 56532480], [56533689, 56533819], [56534765, 56534937], [56535264, 56535409], [56536228, 56536368], [56536584, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56553657, 56554195]] [[56518672, 56518779], [56519501, 56519650], [56530878, 56530991], [56531654, 56531792], [56532348, 56532480], [56533689, 56533819], [56534765, 56534937], [56535264, 56535409], [56536228, 56536368], [56536584, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56553657, 56553774]]
ENST00000562813 [[56518299, 56518779], [56519501, 56519650], [56530878, 56531792], [56532348, 56534831]] None
ENST00000569192 [[56519518, 56519650], [56530878, 56530991], [56531654, 56531792], [56532348, 56532480], [56533689, 56533890]] None
ENST00000566495 [[56531654, 56531792], [56532348, 56532480], [56533689, 56533819], [56534765, 56534889], [56535264, 56535506]] None
ENST00000561877 [[56531687, 56531792], [56532348, 56532608], [56533689, 56533819], [56534765, 56534858]] [[56532602, 56532608], [56533689, 56533819], [56534765, 56534858]]
ENST00000566410 [[56532401, 56532605], [56533689, 56533835]] None
ENST00000566452 [[56533612, 56533819], [56534765, 56534857]] None
ENST00000566210 [[56533697, 56533819], [56534765, 56535088]] None
ENST00000562012 [[56533743, 56533819], [56534765, 56534937], [56535264, 56535409], [56536228, 56536368], [56536613, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543901]] [[56536340, 56536368], [56536613, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543901]]
ENST00000562059 [[56534793, 56534937], [56535264, 56535718]] None
ENST00000569342 [[56535314, 56535409], [56536228, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56553657, 56553908]] None
ENST00000561951 [[56535558, 56535674], [56536228, 56536368], [56536584, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543946], [56544770, 56544833], [56545070, 56545190]] None
ENST00000561853 [[56536133, 56536368], [56536613, 56536720], [56539861, 56539948], [56540031, 56540075]] None
ENST00000565859 [[56539889, 56539948], [56540031, 56540136], [56543268, 56543879]] None
ENST00000569941 [[56543868, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56549974, 56550043]] [[56543868, 56543883]]
ENST00000566689 [[56543893, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56553425, 56553533]] None
ENST00000565378 [[56543915, 56543946], [56544770, 56544833], [56545044, 56545196], [56548364, 56548592], [56553868, 56553968]] None
NM_031885 [[56518258, 56518779], [56519501, 56519650], [56530878, 56530991], [56531654, 56531792], [56532348, 56532480], [56533689, 56533819], [56534765, 56534937], [56535264, 56535409], [56536228, 56536368], [56536584, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56553657, 56554008]] [[56518672, 56518779], [56519501, 56519650], [56530878, 56530991], [56531654, 56531792], [56532348, 56532480], [56533689, 56533819], [56534765, 56534937], [56535264, 56535409], [56536228, 56536368], [56536584, 56536720], [56539861, 56539948], [56540031, 56540136], [56543868, 56543946], [56544770, 56544833], [56545070, 56545196], [56548364, 56548592], [56553657, 56553774]]
Promoter
Chrom Start End Description
chr16 56553860 56553868 CAGE_peak_3_at_BBS2_5end
chr16 56553882 56553992 CAGE_peak_1_at_BBS2_5end
chr16 56553994 56554012 CAGE_peak_2_at_BBS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I056964 56964149 56966639 1.22 [{'connected_gene': 'RSPRY1', 'score': 98.79}, {'connected_gene': 'NLRC5', 'score': 39.87}, {'connected_gene': 'NUDT21', 'score': 24.9}, {'connected_gene': 'POLR2C', 'score': 18.23}, {'connected_gene': 'HERPUD1', 'score': 11.4}, {'connected_gene': 'LOC105371286', 'score': 10.83}, {'connected_gene': 'FAM192A', 'score': 10.2}, {'connected_gene': 'BBS2', 'score': 10.12}, {'connected_gene': 'CETP', 'score': 0.77}, {'connected_gene': 'GC16M056955', 'score': 0.77}, {'connected_gene': 'GC16M056973', 'score': 0.39}]
chr16 GH16I057101 57101082 57106247 0.67 [{'connected_gene': 'FAM192A', 'score': 10.81}, {'connected_gene': 'RSPRY1', 'score': 10.81}, {'connected_gene': 'CPNE2', 'score': 6.23}, {'connected_gene': 'CIAPIN1', 'score': 4.83}, {'connected_gene': 'BBS2', 'score': 4.38}, {'connected_gene': 'GC16P057096', 'score': 0.44}, {'connected_gene': 'LOC105371289', 'score': 0.29}]
chr16 GH16I056556 56556877 56559988 0.66 [{'connected_gene': 'BBS2', 'score': 16.71}, {'connected_gene': 'MT4', 'score': 13.17}, {'connected_gene': 'MT3', 'score': 11.9}, {'connected_gene': 'MT1G', 'score': 10.9}, {'connected_gene': 'MT1H', 'score': 10.89}, {'connected_gene': 'MT1F', 'score': 10.83}, {'connected_gene': 'MT1X', 'score': 10.62}, {'connected_gene': 'OGFOD1', 'score': 4.45}, {'connected_gene': 'GC16M056558', 'score': 0.44}]
chr16 GH16I056383 56382760 56383604 0.8 [{'connected_gene': 'BBS2', 'score': 36.16}, {'connected_gene': 'OGFOD1', 'score': 32.6}, {'connected_gene': 'RSPRY1', 'score': 12.88}, {'connected_gene': 'NUP93', 'score': 11.05}, {'connected_gene': 'NUDT21', 'score': 10.52}, {'connected_gene': 'MT4', 'score': 6.97}, {'connected_gene': 'GC16M056362', 'score': 0.37}, {'connected_gene': 'PIR40925', 'score': 0.37}, {'connected_gene': 'AMFR', 'score': 0.26}]
chr16 GH16I056518 56518089 56521014 2.15 [{'connected_gene': 'BBS2', 'score': 588.38}, {'connected_gene': 'OGFOD1', 'score': 19.88}, {'connected_gene': 'MT3', 'score': 11.27}, {'connected_gene': 'MT1G', 'score': 10.5}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'NUDT21', 'score': 10.28}, {'connected_gene': 'MT4', 'score': 7.56}, {'connected_gene': 'ENSG00000274031', 'score': 0.23}]
chr16 GH16I056476 56476101 56477967 0.66 [{'connected_gene': 'BBS2', 'score': 38.89}, {'connected_gene': 'OGFOD1', 'score': 31.4}, {'connected_gene': 'NUDT21', 'score': 11.32}, {'connected_gene': 'MT4', 'score': 7.48}, {'connected_gene': 'ENSG00000274031', 'score': 0.39}]
chr16 GH16I056341 56341408 56342675 0.2 [{'connected_gene': 'BBS2', 'score': 19.85}, {'connected_gene': 'OGFOD1', 'score': 9.97}, {'connected_gene': 'NUDT21', 'score': 9.97}, {'connected_gene': 'ENSG00000272372', 'score': 0.39}, {'connected_gene': 'GC16M056301', 'score': 0.34}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056546 56546744 56548696 1.31 [{'connected_gene': 'BBS2', 'score': 24.6}, {'connected_gene': 'MT3', 'score': 14.6}, {'connected_gene': 'MT4', 'score': 12.71}, {'connected_gene': 'MT1A', 'score': 10.91}, {'connected_gene': 'MT1G', 'score': 10.2}, {'connected_gene': 'MT1H', 'score': 10.2}, {'connected_gene': 'GNAO1', 'score': 5.77}]
chr16 GH16I056544 56544150 56545016 0.31 [{'connected_gene': 'BBS2', 'score': 12.14}, {'connected_gene': 'MT3', 'score': 9.33}, {'connected_gene': 'MT4', 'score': 8.16}]
chr16 GH16I056539 56539544 56541368 0.89 [{'connected_gene': 'BBS2', 'score': 24.91}, {'connected_gene': 'MT3', 'score': 11.49}, {'connected_gene': 'MT1X', 'score': 10.54}, {'connected_gene': 'MT1A', 'score': 10.18}, {'connected_gene': 'MT1G', 'score': 9.99}, {'connected_gene': 'MT1H', 'score': 9.99}, {'connected_gene': 'MT1F', 'score': 9.85}, {'connected_gene': 'OGFOD1', 'score': 8.65}, {'connected_gene': 'MT4', 'score': 8.44}, {'connected_gene': 'NUDT21', 'score': 8.33}]
chr16 GH16I056525 56525018 56526207 0.31 [{'connected_gene': 'OGFOD1', 'score': 20.61}, {'connected_gene': 'MT4', 'score': 7.22}, {'connected_gene': 'BBS2', 'score': 0.44}]
chr16 GH16I056509 56509463 56511951 0.31 [{'connected_gene': 'OGFOD1', 'score': 30.19}, {'connected_gene': 'MT3', 'score': 11.25}, {'connected_gene': 'NUDT21', 'score': 10.57}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'MT1X', 'score': 10.36}, {'connected_gene': 'BBS2', 'score': 6.87}, {'connected_gene': 'ENSG00000274031', 'score': 0.26}]
chr16 GH16I056475 56475349 56475498 0.38 [{'connected_gene': 'OGFOD1', 'score': 11.32}, {'connected_gene': 'NUDT21', 'score': 11.32}, {'connected_gene': 'ENSG00000274031', 'score': 0.44}, {'connected_gene': 'BBS2', 'score': 0.26}]
chr16 GH16I056346 56346444 56350610 0.43 [{'connected_gene': 'OGFOD1', 'score': 16.87}, {'connected_gene': 'NUDT21', 'score': 9.98}, {'connected_gene': 'AMFR', 'score': 7.47}, {'connected_gene': 'MT4', 'score': 7.39}, {'connected_gene': 'BBS2', 'score': 5.14}, {'connected_gene': 'ENSG00000272372', 'score': 0.77}, {'connected_gene': 'GC16M056301', 'score': 0.29}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056551 56551969 56552299 1.28 [{'connected_gene': 'MT3', 'score': 17.83}, {'connected_gene': 'BBS2', 'score': 14.84}, {'connected_gene': 'MT4', 'score': 13.94}, {'connected_gene': 'MT1G', 'score': 10.88}, {'connected_gene': 'MT1H', 'score': 10.88}, {'connected_gene': 'MT1F', 'score': 10.82}, {'connected_gene': 'MT1X', 'score': 10.61}, {'connected_gene': 'GNAO1', 'score': 5.77}]
chr16 GH16I056514 56514009 56514178 0.89 [{'connected_gene': 'MT3', 'score': 11.26}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'OGFOD1', 'score': 10.29}, {'connected_gene': 'NUDT21', 'score': 10.29}, {'connected_gene': 'BBS2', 'score': 0.44}, {'connected_gene': 'ENSG00000274031', 'score': 0.25}]
chr16 GH16I056516 56516148 56516335 0.57 [{'connected_gene': 'MT3', 'score': 27.63}, {'connected_gene': 'GNAO1', 'score': 12.35}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'OGFOD1', 'score': 10.29}, {'connected_gene': 'NUDT21', 'score': 10.29}, {'connected_gene': 'BBS2', 'score': 8.38}, {'connected_gene': 'MT1M', 'score': 1.45}, {'connected_gene': 'ENSG00000274031', 'score': 0.23}]
chr16 GH16I056604 56604775 56615536 2.79 [{'connected_gene': 'MT2A', 'score': 553.69}, {'connected_gene': 'ENSG00000260823', 'score': 550.77}, {'connected_gene': 'GC16P056608', 'score': 550.77}, {'connected_gene': 'GC16P056609', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 24.6}, {'connected_gene': 'POLR2C', 'score': 19.13}, {'connected_gene': 'BBS2', 'score': 17.36}, {'connected_gene': 'MT1A', 'score': 15.36}, {'connected_gene': 'MT1F', 'score': 11.87}, {'connected_gene': 'MT1G', 'score': 11.53}, {'connected_gene': 'MT1H', 'score': 11.53}, {'connected_gene': 'MT3', 'score': 11.52}, {'connected_gene': 'MT1DP', 'score': 11.48}, {'connected_gene': 'MT1CP', 'score': 11.46}, {'connected_gene': 'MT1B', 'score': 11.3}, {'connected_gene': 'MT1X', 'score': 10.91}, {'connected_gene': 'NUP93', 'score': 10.64}, {'connected_gene': 'MIR138-2', 'score': 9.93}, {'connected_gene': 'MT1E', 'score': 9.44}, {'connected_gene': 'MT4', 'score': 8.48}, {'connected_gene': 'MT1L', 'score': 8.32}, {'connected_gene': 'DOK4', 'score': 5.44}, {'connected_gene': 'HMGB3P32', 'score': 4.98}, {'connected_gene': 'NLRC5', 'score': 4.83}, {'connected_gene': 'MT1M', 'score': 3.78}, {'connected_gene': 'HERPUD1', 'score': 2.48}]
chr16 GH16I056735 56735401 56735800 0.2 [{'connected_gene': 'MT1G', 'score': 9.94}, {'connected_gene': 'MT1H', 'score': 9.94}, {'connected_gene': 'BBS2', 'score': 9.52}, {'connected_gene': 'NUP93', 'score': 0.44}, {'connected_gene': 'GC16P056858', 'score': 0.13}]
chr16 GH16I056506 56506701 56507791 0.69 [{'connected_gene': 'MT1G', 'score': 10.14}, {'connected_gene': 'MT1H', 'score': 10.14}, {'connected_gene': 'BBS2', 'score': 0.39}, {'connected_gene': 'ENSG00000274031', 'score': 0.26}]
chr16 GH16I056624 56624762 56627746 1.92 [{'connected_gene': 'MT1E', 'score': 581.63}, {'connected_gene': 'MT3', 'score': 12.39}, {'connected_gene': 'MT1G', 'score': 11.58}, {'connected_gene': 'MT1H', 'score': 11.58}, {'connected_gene': 'MT1B', 'score': 11.53}, {'connected_gene': 'MT1F', 'score': 11.43}, {'connected_gene': 'MT1X', 'score': 11.23}, {'connected_gene': 'MT1A', 'score': 10.34}, {'connected_gene': 'BBS2', 'score': 10.23}, {'connected_gene': 'NUP93', 'score': 9.98}, {'connected_gene': 'MT1L', 'score': 9.55}, {'connected_gene': 'MT1M', 'score': 0.44}]
chr16 GH16I056800 56800344 56800953 0.69 [{'connected_gene': 'MIR138-2', 'score': 11.42}, {'connected_gene': 'SLC12A3', 'score': 11.0}, {'connected_gene': 'NUP93', 'score': 10.82}, {'connected_gene': 'MT1G', 'score': 10.64}, {'connected_gene': 'MT1H', 'score': 10.64}, {'connected_gene': 'MT1X', 'score': 10.26}, {'connected_gene': 'MT1B', 'score': 10.17}, {'connected_gene': 'NLRC5', 'score': 10.0}, {'connected_gene': 'BBS2', 'score': 9.98}, {'connected_gene': 'HERPUD1', 'score': 9.88}, {'connected_gene': 'MT1F', 'score': 9.34}, {'connected_gene': 'GC16P056858', 'score': 0.22}]
chr16 GH16I056303 56303160 56303575 0.47 [{'connected_gene': 'GNAO1', 'score': 3.83}, {'connected_gene': 'MT3', 'score': 2.67}, {'connected_gene': 'BBS2', 'score': 2.35}, {'connected_gene': 'MT1M', 'score': 1.65}, {'connected_gene': 'CES5A', 'score': 1.35}, {'connected_gene': 'ENSG00000279764', 'score': 0.77}, {'connected_gene': 'ENSG00000260198', 'score': 0.77}, {'connected_gene': 'GC16M056301', 'score': 0.39}]
chr16 GH16I056280 56280705 56282936 1.06 [{'connected_gene': 'GNAO1', 'score': 38.54}, {'connected_gene': 'MT3', 'score': 1.92}, {'connected_gene': 'MT1M', 'score': 1.63}, {'connected_gene': 'BBS2', 'score': 1.51}, {'connected_gene': 'PIR47916', 'score': 0.44}, {'connected_gene': 'ENSG00000260198', 'score': 0.37}]
chr16 GH16I056450 56450019 56453010 2.04 [{'connected_gene': 'NUDT21', 'score': 584.31}, {'connected_gene': 'OGFOD1', 'score': 572.68}, {'connected_gene': 'BBS2', 'score': 38.85}, {'connected_gene': 'RSPRY1', 'score': 19.54}, {'connected_gene': 'NUP93', 'score': 18.44}, {'connected_gene': 'MT4', 'score': 7.01}]
chr16 GH16I056480 56480688 56482489 0.72 [{'connected_gene': 'NUDT21', 'score': 11.33}, {'connected_gene': 'OGFOD1', 'score': 11.31}, {'connected_gene': 'ENSG00000272372', 'score': 10.97}, {'connected_gene': 'LOC283856', 'score': 10.45}, {'connected_gene': 'MT4', 'score': 7.49}, {'connected_gene': 'ENSG00000274031', 'score': 0.37}, {'connected_gene': 'BBS2', 'score': 0.28}]
chr16 GH16I055672 55672669 55672818 0.38 [{'connected_gene': 'NUDT21', 'score': 16.58}, {'connected_gene': 'MMP2', 'score': 10.33}, {'connected_gene': 'LPCAT2', 'score': 10.33}, {'connected_gene': 'BBS2', 'score': 10.1}, {'connected_gene': 'SLC6A2', 'score': 0.37}, {'connected_gene': 'ENSG00000278928', 'score': 0.29}]
chr16 GH16I057141 57141226 57146281 1.21 [{'connected_gene': 'ENSG00000279019', 'score': 550.77}, {'connected_gene': 'ENSG00000279803', 'score': 550.77}, {'connected_gene': 'FAM192A', 'score': 27.32}, {'connected_gene': 'PLLP', 'score': 16.1}, {'connected_gene': 'RSPRY1', 'score': 10.83}, {'connected_gene': 'ARL2BP', 'score': 10.45}, {'connected_gene': 'BBS2', 'score': 5.05}, {'connected_gene': 'CPNE2', 'score': 0.23}]
chr16 GH16I056317 56317855 56318743 1.36 [{'connected_gene': 'GC16M056301', 'score': 550.77}, {'connected_gene': 'BBS2', 'score': 6.51}, {'connected_gene': 'MT3', 'score': 3.65}, {'connected_gene': 'GNAO1', 'score': 3.53}, {'connected_gene': 'CES5A', 'score': 1.86}, {'connected_gene': 'ENSG00000272372', 'score': 0.28}]
chr16 GH16I056299 56299021 56300520 1.05 [{'connected_gene': 'ENSG00000260198', 'score': 555.72}, {'connected_gene': 'GNAO1', 'score': 10.82}, {'connected_gene': 'MT3', 'score': 9.96}, {'connected_gene': 'BBS2', 'score': 9.54}, {'connected_gene': 'CES5A', 'score': 3.01}, {'connected_gene': 'PIR47916', 'score': 0.34}]
chr16 GH16I056420 56420550 56426808 1.97 [{'connected_gene': 'PIR36581', 'score': 550.77}, {'connected_gene': 'GC16M056424', 'score': 550.77}, {'connected_gene': 'PIR43832', 'score': 550.77}, {'connected_gene': 'AMFR', 'score': 550.77}, {'connected_gene': 'BBS2', 'score': 37.31}, {'connected_gene': 'OGFOD1', 'score': 22.12}, {'connected_gene': 'LOC105371286', 'score': 13.14}, {'connected_gene': 'MT4', 'score': 6.99}, {'connected_gene': 'PIR52158', 'score': 0.39}]

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