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
ENST00000412704 [[95672082, 95673936], [95686858, 95686993], [95695935, 95696041], [95696519, 95696692], [95705348, 95705438], [95714957, 95715113], [95723915, 95724107], [95725457, 95725558], [95726467, 95726578], [95727685, 95727805], [95735393, 95735544], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953687]] [[95673828, 95673936], [95686858, 95686993], [95695935, 95696041], [95696519, 95696692], [95705348, 95705438], [95714957, 95715113], [95723915, 95724107], [95725457, 95725558], [95726467, 95726578], [95727685, 95727805], [95735393, 95735544], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953568]]
ENST00000376887 [[95672084, 95673936], [95686858, 95686993], [95695935, 95696041], [95696519, 95696692], [95705348, 95705438], [95714957, 95715113], [95723915, 95724107], [95725457, 95725558], [95726467, 95726578], [95727685, 95727805], [95735393, 95735544], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953683]] [[95673828, 95673936], [95686858, 95686993], [95695935, 95696041], [95696519, 95696692], [95705348, 95705438], [95714957, 95715113], [95723915, 95724107], [95725457, 95725558], [95726467, 95726578], [95727685, 95727805], [95735393, 95735544], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953568]]
ENST00000536256 [[95748022, 95748433], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95899228, 95899349], [95899896, 95900007], [95953494, 95953687]] [[95748388, 95748433], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95899228, 95899349], [95899896, 95900007], [95953494, 95953568]]
ENST00000431522 [[95748024, 95748433], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953687]] [[95748388, 95748433], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953568]]
ENST00000538287 [[95818476, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95918365, 95918518], [95921563, 95921676], [95953494, 95953589]] [[95921675, 95921676], [95953494, 95953568]]
ENST00000484109 [[95695573, 95696041], [95696519, 95696583]] None
ENST00000471041 [[95695933, 95696041], [95696519, 95696692], [95705348, 95705438], [95707823, 95708073]] None
ENST00000474158 [[95723983, 95724107], [95725457, 95726030]] None
ENST00000467685 [[95726469, 95726578], [95727685, 95728273]] None
NM_005845 [[95672082, 95673936], [95686858, 95686993], [95695935, 95696041], [95696519, 95696692], [95705348, 95705438], [95714957, 95715113], [95723915, 95724107], [95725457, 95725558], [95726467, 95726578], [95727685, 95727805], [95735393, 95735544], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953700]] [[95673828, 95673936], [95686858, 95686993], [95695935, 95696041], [95696519, 95696692], [95705348, 95705438], [95714957, 95715113], [95723915, 95724107], [95725457, 95725558], [95726467, 95726578], [95727685, 95727805], [95735393, 95735544], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953568]]
NM_001301829 [[95672082, 95673936], [95686858, 95686993], [95695935, 95696041], [95696519, 95696692], [95705348, 95705438], [95714957, 95715113], [95723915, 95724107], [95725457, 95725558], [95726467, 95726578], [95727685, 95727805], [95735393, 95735544], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953700]] [[95673828, 95673936], [95686858, 95686993], [95695935, 95696041], [95696519, 95696692], [95705348, 95705438], [95714957, 95715113], [95723915, 95724107], [95725457, 95725558], [95726467, 95726578], [95727685, 95727805], [95735393, 95735544], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953568]]
NM_001105515 [[95748024, 95748433], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953700]] [[95748388, 95748433], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95886863, 95887088], [95899228, 95899349], [95899896, 95900007], [95953494, 95953568]]
NM_001301830 [[95748024, 95748433], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95899228, 95899349], [95899896, 95900007], [95953494, 95953700]] [[95748388, 95748433], [95768175, 95768255], [95813442, 95813589], [95815375, 95815470], [95815863, 95815901], [95816631, 95816772], [95818411, 95818621], [95822785, 95822882], [95829960, 95830047], [95830250, 95830345], [95838954, 95839146], [95840706, 95840796], [95847089, 95847191], [95858785, 95859035], [95860053, 95860179], [95861687, 95861851], [95862945, 95863035], [95899228, 95899349], [95899896, 95900007], [95953494, 95953568]]
Promoter
Chrom Start End Description
chr13 95953664 95953740 CAGE_peak_1_at_ABCC4_5end
chr13 95954011 95954024 CAGE_peak_2_at_ABCC4_5end
chr13 95954034 95954041 CAGE_peak_5_at_ABCC4_5end
chr13 95954052 95954075 CAGE_peak_3_at_ABCC4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I095485 95485000 95485601 0.98 [{'connected_gene': 'CLDN10', 'score': 11.14}, {'connected_gene': 'ABCC4', 'score': 10.17}, {'connected_gene': 'CLDN10-AS1', 'score': 0.25}]
chr13 GH13I095153 95153524 95155292 0.89 [{'connected_gene': 'RNU6-62P', 'score': 9.87}, {'connected_gene': 'GC13M095121', 'score': 0.29}, {'connected_gene': 'ABCC4', 'score': 0.11}, {'connected_gene': 'LOC102724149', 'score': 0.11}]
chr13 GH13I095022 95022236 95022632 0.4 [{'connected_gene': 'RNU6-62P', 'score': 0.77}, {'connected_gene': 'GC13M095121', 'score': 0.15}, {'connected_gene': 'ABCC4', 'score': 0.06}]
chr13 GH13I095403 95403458 95405016 0.96 [{'connected_gene': 'LOC105370321', 'score': 550.77}, {'connected_gene': 'CLDN10', 'score': 11.24}, {'connected_gene': 'ABCC4', 'score': 10.92}]
chr13 GH13I095478 95478147 95479400 0.95 [{'connected_gene': 'ABCC4', 'score': 10.33}, {'connected_gene': 'CLDN10', 'score': 5.25}, {'connected_gene': 'CLDN10-AS1', 'score': 0.22}]
chr13 GH13I095253 95253861 95257403 0.94 [{'connected_gene': 'ABCC4', 'score': 21.26}, {'connected_gene': 'TGDS', 'score': 12.79}, {'connected_gene': 'LOC102724149', 'score': 0.25}, {'connected_gene': 'GC13M095121', 'score': 0.12}]
chr13 GH13I095265 95265617 95277282 1.64 [{'connected_gene': 'ABCC4', 'score': 21.86}, {'connected_gene': 'DZIP1', 'score': 12.1}, {'connected_gene': 'LOC102724149', 'score': 0.31}, {'connected_gene': 'GC13M095121', 'score': 0.11}]
chr13 GH13I095380 95380468 95381203 0.99 [{'connected_gene': 'ABCC4', 'score': 11.34}, {'connected_gene': 'MEMO1P5', 'score': 0.39}, {'connected_gene': 'RNY4P27', 'score': 0.26}]
chr13 GH13I095387 95387455 95388005 0.49 [{'connected_gene': 'ABCC4', 'score': 11.32}, {'connected_gene': 'MEMO1P5', 'score': 0.44}, {'connected_gene': 'RNY4P27', 'score': 0.23}]
chr13 GH13I095314 95314547 95314696 0.94 [{'connected_gene': 'ABCC4', 'score': 10.94}, {'connected_gene': 'RNY3P8', 'score': 0.77}, {'connected_gene': 'RNY4P27', 'score': 0.34}]
chr13 GH13I095176 95176309 95177314 0.2 [{'connected_gene': 'ABCC4', 'score': 4.47}, {'connected_gene': 'GC13M095121', 'score': 0.22}, {'connected_gene': 'LOC102724149', 'score': 0.13}]
chr13 GH13I095297 95297114 95302716 2.67 [{'connected_gene': 'ABCC4', 'score': 562.7}, {'connected_gene': 'LOC102724149', 'score': 550.77}, {'connected_gene': 'GC13M095121', 'score': 0.1}]
chr13 GH13I095248 95248007 95248096 0.65 [{'connected_gene': 'ABCC4', 'score': 0.23}, {'connected_gene': 'LOC102724149', 'score': 0.23}, {'connected_gene': 'GC13M095121', 'score': 0.13}]
chr13 GH13I095201 95201793 95202869 1.06 [{'connected_gene': 'ABCC4', 'score': 16.5}, {'connected_gene': 'GC13M095121', 'score': 0.18}, {'connected_gene': 'LOC102724149', 'score': 0.15}]
chr13 GH13I095279 95279132 95282561 1.02 [{'connected_gene': 'ABCC4', 'score': 9.38}, {'connected_gene': 'LOC102724149', 'score': 0.37}, {'connected_gene': 'GC13M095121', 'score': 0.1}]
chr13 GH13I095289 95289187 95289336 0.8 [{'connected_gene': 'ABCC4', 'score': 0.39}, {'connected_gene': 'LOC102724149', 'score': 0.39}, {'connected_gene': 'GC13M095121', 'score': 0.1}]
chr13 GH13I095242 95242903 95243842 0.87 [{'connected_gene': 'ABCC4', 'score': 6.15}, {'connected_gene': 'LOC102724149', 'score': 0.22}, {'connected_gene': 'GC13M095121', 'score': 0.13}]
chr13 GH13I095236 95236797 95237059 0.24 [{'connected_gene': 'ABCC4', 'score': 20.49}, {'connected_gene': 'LOC102724149', 'score': 0.21}, {'connected_gene': 'GC13M095121', 'score': 0.13}]
chr13 GH13I095226 95226499 95228407 1 [{'connected_gene': 'ABCC4', 'score': 6.5}, {'connected_gene': 'LOC102724149', 'score': 0.19}, {'connected_gene': 'GC13M095121', 'score': 0.14}]
chr13 GH13I095127 95127950 95129092 0.56 [{'connected_gene': 'ABCC4', 'score': 9.92}, {'connected_gene': 'GC13M095121', 'score': 0.44}, {'connected_gene': 'LOC102724149', 'score': 0.09}]
chr13 GH13I095238 95238907 95240265 0.64 [{'connected_gene': 'ABCC4', 'score': 20.54}, {'connected_gene': 'LOC102724149', 'score': 0.21}, {'connected_gene': 'GC13M095121', 'score': 0.13}]
chr13 GH13I095189 95189202 95189736 0.82 [{'connected_gene': 'ABCC4', 'score': 12.15}, {'connected_gene': 'GC13M095121', 'score': 0.2}, {'connected_gene': 'LOC102724149', 'score': 0.14}]
chr13 GH13I095296 95296803 95296836 0.72 [{'connected_gene': 'ABCC4', 'score': 0.77}, {'connected_gene': 'LOC102724149', 'score': 0.77}, {'connected_gene': 'GC13M095121', 'score': 0.1}]
chr13 GH13I095278 95278804 95278943 0.23 [{'connected_gene': 'ABCC4', 'score': 6.38}, {'connected_gene': 'LOC102724149', 'score': 0.34}, {'connected_gene': 'GC13M095121', 'score': 0.1}]
chr13 GH13I095284 95284464 95284576 0.31 [{'connected_gene': 'ABCC4', 'score': 0.37}, {'connected_gene': 'LOC102724149', 'score': 0.37}, {'connected_gene': 'GC13M095121', 'score': 0.1}]
chr13 GH13I095257 95257920 95260686 0.8 [{'connected_gene': 'ABCC4', 'score': 21.32}, {'connected_gene': 'LOC102724149', 'score': 0.26}, {'connected_gene': 'GC13M095121', 'score': 0.12}]
chr13 GH13I095184 95184361 95186592 0.4 [{'connected_gene': 'ABCC4', 'score': 6.71}, {'connected_gene': 'GC13M095121', 'score': 0.21}, {'connected_gene': 'LOC102724149', 'score': 0.13}]
chr13 GH13I095191 95191584 95193578 0.95 [{'connected_gene': 'ABCC4', 'score': 19.45}, {'connected_gene': 'GC13M095121', 'score': 0.19}, {'connected_gene': 'LOC102724149', 'score': 0.14}]
chr13 GH13I095298 95296600 95296801 0.92 [{'connected_gene': 'ABCC4', 'score': 0.77}, {'connected_gene': 'LOC102724149', 'score': 0.77}, {'connected_gene': 'GC13M095121', 'score': 0.1}]
chr13 GH13I095285 95285398 95286807 1.34 [{'connected_gene': 'ABCC4', 'score': 12.38}, {'connected_gene': 'LOC102724149', 'score': 0.39}, {'connected_gene': 'GC13M095121', 'score': 0.1}]
chr13 GH13I095180 95180827 95181662 0.73 [{'connected_gene': 'ABCC4', 'score': 4.43}, {'connected_gene': 'GC13M095121', 'score': 0.22}, {'connected_gene': 'LOC102724149', 'score': 0.13}]
chr13 GH13I095360 95360567 95360716 0.52 [{'connected_gene': 'ABCC4', 'score': 11.25}, {'connected_gene': 'RNY4P27', 'score': 0.34}, {'connected_gene': 'MEMO1P5', 'score': 0.29}]
chr13 GH13I095354 95354727 95354876 0.52 [{'connected_gene': 'ABCC4', 'score': 11.03}, {'connected_gene': 'RNY4P27', 'score': 0.37}, {'connected_gene': 'MEMO1P5', 'score': 0.28}]
chr13 GH13I095355 95355667 95355816 0.2 [{'connected_gene': 'ABCC4', 'score': 11.03}, {'connected_gene': 'RNY4P27', 'score': 0.37}, {'connected_gene': 'MEMO1P5', 'score': 0.28}]
chr13 GH13I095534 95534018 95536016 0.97 [{'connected_gene': 'CLDN10-AS1', 'score': 559.08}, {'connected_gene': 'TGDS', 'score': 23.46}, {'connected_gene': 'ABCC4', 'score': 10.32}, {'connected_gene': 'CLDN10', 'score': 10.09}, {'connected_gene': 'GC13P095540', 'score': 0.44}]
chr13 GH13I095099 95099013 95101694 1.17 [{'connected_gene': 'GC13M095121', 'score': 0.34}, {'connected_gene': 'RNU6-62P', 'score': 0.18}, {'connected_gene': 'ABCC4', 'score': 0.08}]
chr13 GH13I095116 95116751 95117117 0.2 [{'connected_gene': 'GC13M095121', 'score': 0.77}, {'connected_gene': 'RNU6-62P', 'score': 0.15}, {'connected_gene': 'ABCC4', 'score': 0.09}]
chr13 GH13I095088 95088067 95088216 0.54 [{'connected_gene': 'GC13M095121', 'score': 0.29}, {'connected_gene': 'RNU6-62P', 'score': 0.2}, {'connected_gene': 'ABCC4', 'score': 0.08}]
chr13 GH13I095112 95112622 95116338 0.63 [{'connected_gene': 'GC13M095121', 'score': 0.44}, {'connected_gene': 'RNU6-62P', 'score': 0.15}, {'connected_gene': 'ABCC4', 'score': 0.09}]
chr13 GH13I095103 95103423 95104329 0.2 [{'connected_gene': 'GC13M095121', 'score': 0.37}, {'connected_gene': 'RNU6-62P', 'score': 0.18}, {'connected_gene': 'ABCC4', 'score': 0.08}]
chr13 GH13I095106 95106488 95107278 0.2 [{'connected_gene': 'GC13M095121', 'score': 0.39}, {'connected_gene': 'RNU6-62P', 'score': 0.17}, {'connected_gene': 'ABCC4', 'score': 0.08}]
chr13 GH13I095083 95083468 95084384 0.78 [{'connected_gene': 'GC13M095121', 'score': 0.28}, {'connected_gene': 'RNU6-62P', 'score': 0.21}, {'connected_gene': 'ABCC4', 'score': 0.08}]
chr13 GH13I095160 95160687 95160836 0.8 [{'connected_gene': 'GC13M095121', 'score': 0.28}, {'connected_gene': 'LOC102724149', 'score': 0.12}, {'connected_gene': 'ABCC4', 'score': 0.11}]
chr13 GH13I095207 95207540 95208576 0.74 [{'connected_gene': 'GC13M095121', 'score': 0.17}, {'connected_gene': 'ABCC4', 'score': 0.16}, {'connected_gene': 'LOC102724149', 'score': 0.16}]
chr13 GH13I095123 95123947 95124096 0.84 [{'connected_gene': 'GC13M095121', 'score': 0.77}, {'connected_gene': 'ABCC4', 'score': 0.1}, {'connected_gene': 'LOC102724149', 'score': 0.1}]
chr13 GH13I095304 95304376 95305076 0.2 [{'connected_gene': 'GC13P095305', 'score': 550.77}, {'connected_gene': 'ABCC4', 'score': 0.77}, {'connected_gene': 'LOC102724149', 'score': 0.77}]

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