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
ENST00000040877 [[234527058, 234527491], [234528161, 234528298], [234529107, 234529232], [234529391, 234529583], [234534127, 234534299], [234536926, 234537008], [234541648, 234541845], [234546190, 234546277], [234553829, 234553979], [234556447, 234556558], [234561418, 234561539], [234563062, 234563134], [234563321, 234563512], [234564881, 234565070], [234565161, 234565423], [234565832, 234566047], [234569155, 234569317], [234573020, 234573118], [234582548, 234582721], [234584225, 234584325], [234586173, 234586312], [234593412, 234593502], [234594975, 234595072], [234596006, 234596142], [234599582, 234599680], [234601401, 234601454], [234603247, 234603396], [234606933, 234607003], [234608459, 234608557], [234613918, 234614849]] [[234527322, 234527491], [234528161, 234528298], [234529107, 234529232], [234529391, 234529583], [234534127, 234534299], [234536926, 234537008], [234541648, 234541845], [234546190, 234546277], [234553829, 234553979], [234556447, 234556558], [234561418, 234561539], [234563062, 234563134], [234563321, 234563512], [234564881, 234565070], [234565161, 234565423], [234565832, 234566047], [234569155, 234569317], [234573020, 234573118], [234582548, 234582721], [234584225, 234584325], [234586173, 234586312], [234593412, 234593502], [234594975, 234595072], [234596006, 234596142], [234599582, 234599680], [234601401, 234601454], [234603247, 234603396], [234606933, 234607003], [234608459, 234608557], [234613918, 234614849]]
ENST00000483404 [[234527084, 234527491], [234528161, 234528298], [234529107, 234529222], [234529391, 234529583], [234536598, 234536694], [234536926, 234537008], [234541648, 234543701]] None
ENST00000462259 [[234527123, 234527491], [234528161, 234528298], [234529107, 234529232], [234529391, 234529583], [234534127, 234534299], [234536598, 234536694], [234536926, 234537008], [234541648, 234542126]] None
ENST00000496673 [[234527155, 234527491], [234528161, 234528298], [234529391, 234529583], [234534127, 234534299], [234536926, 234536962]] None
ENST00000471918 [[234527343, 234527491], [234528161, 234528470]] None
ENST00000484454 [[234533923, 234534299], [234536598, 234536648]] None
ENST00000468077 [[234534127, 234534299], [234536926, 234537008], [234541057, 234541226], [234541648, 234541739]] None
ENST00000481183 [[234535996, 234536069], [234536598, 234536694], [234536926, 234537008], [234541648, 234541845], [234546190, 234546277]] None
ENST00000463793 [[234546149, 234546277], [234553829, 234553979], [234556447, 234556560]] None
NM_005646 [[234527058, 234527491], [234528161, 234528298], [234529107, 234529232], [234529391, 234529583], [234534127, 234534299], [234536926, 234537008], [234541648, 234541845], [234546190, 234546277], [234553829, 234553979], [234556447, 234556558], [234561418, 234561539], [234563062, 234563134], [234563321, 234563512], [234564881, 234565070], [234565161, 234565423], [234565832, 234566047], [234569155, 234569317], [234573020, 234573118], [234582548, 234582721], [234584225, 234584325], [234586173, 234586312], [234593412, 234593502], [234594975, 234595072], [234596006, 234596142], [234599582, 234599680], [234601401, 234601454], [234603247, 234603396], [234606933, 234607003], [234608459, 234608557], [234613918, 234614849]] [[234527322, 234527491], [234528161, 234528298], [234529107, 234529232], [234529391, 234529583], [234534127, 234534299], [234536926, 234537008], [234541648, 234541845], [234546190, 234546277], [234553829, 234553979], [234556447, 234556558], [234561418, 234561539], [234563062, 234563134], [234563321, 234563512], [234564881, 234565070], [234565161, 234565423], [234565832, 234566047], [234569155, 234569317], [234573020, 234573118], [234582548, 234582721], [234584225, 234584325], [234586173, 234586312], [234593412, 234593502], [234594975, 234595072], [234596006, 234596142], [234599582, 234599680], [234601401, 234601454], [234603247, 234603396], [234606933, 234607003], [234608459, 234608557], [234613918, 234614849]]
Promoter
Chrom Start End Description
chr1 234614571 234614603 CAGE_peak_4_at_TARBP1_5end
chr1 234614605 234614695 CAGE_peak_2_at_TARBP1_5end
chr1 234614853 234614872 CAGE_peak_3_at_TARBP1_5end
chr1 234614877 234614941 CAGE_peak_1_at_TARBP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I235126 235126709 235131259 2.12 [{'connected_gene': 'TOMM20', 'score': 556.05}, {'connected_gene': 'LOC105379283', 'score': 550.77}, {'connected_gene': 'GC01M235128', 'score': 550.77}, {'connected_gene': 'SNORA14B', 'score': 550.77}, {'connected_gene': 'GC01M235129', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 62.06}, {'connected_gene': 'RPS21P1', 'score': 35.37}, {'connected_gene': 'IRF2BP2', 'score': 21.3}, {'connected_gene': 'LDHAP2', 'score': 19.23}, {'connected_gene': 'GGPS1', 'score': 17.91}, {'connected_gene': 'LYST', 'score': 9.99}, {'connected_gene': 'TBCE', 'score': 9.83}, {'connected_gene': 'TARBP1', 'score': 9.78}, {'connected_gene': 'RBM34', 'score': 9.49}, {'connected_gene': 'GC01P235131', 'score': 0.77}]
chr1 GH01I234472 234472603 234475400 0.89 [{'connected_gene': 'TBCE', 'score': 13.74}, {'connected_gene': 'GGPS1', 'score': 10.83}, {'connected_gene': 'ARID4B', 'score': 10.42}, {'connected_gene': 'TARBP1', 'score': 5.74}, {'connected_gene': 'PIR53843', 'score': 0.21}]
chr1 GH01I235401 235401863 235404912 0.88 [{'connected_gene': 'TBCE', 'score': 20.46}, {'connected_gene': 'ARID4B', 'score': 11.41}, {'connected_gene': 'GGPS1', 'score': 11.41}, {'connected_gene': 'TARBP1', 'score': 10.73}, {'connected_gene': 'B3GALNT2', 'score': 7.51}, {'connected_gene': 'RPS21P1', 'score': 0.31}]
chr1 GH01I234503 234503033 234506328 1.55 [{'connected_gene': 'TBCE', 'score': 12.99}, {'connected_gene': 'ENSG00000212144', 'score': 11.57}, {'connected_gene': 'ARID4B', 'score': 11.56}, {'connected_gene': 'GC01P234531', 'score': 0.31}, {'connected_gene': 'TARBP1', 'score': 0.31}]
chr1 GH01I234520 234520321 234524629 1.81 [{'connected_gene': 'TBCE', 'score': 27.64}, {'connected_gene': 'LINC01354', 'score': 17.5}, {'connected_gene': 'ARID4B', 'score': 14.6}, {'connected_gene': 'IRF2BP2', 'score': 12.19}, {'connected_gene': 'RPS21P1', 'score': 11.61}, {'connected_gene': 'ENSG00000212144', 'score': 11.27}, {'connected_gene': 'LOC101927765', 'score': 11.15}, {'connected_gene': 'GC01P234531', 'score': 0.44}, {'connected_gene': 'TARBP1', 'score': 0.26}]
chr1 GH01I234552 234552814 234555620 1.41 [{'connected_gene': 'TARBP1', 'score': 18.39}, {'connected_gene': 'ARID4B', 'score': 14.6}, {'connected_gene': 'ENSG00000212144', 'score': 12.89}, {'connected_gene': 'RPS21P1', 'score': 11.61}, {'connected_gene': 'GGPS1', 'score': 10.83}, {'connected_gene': 'LINC01354', 'score': 7.92}, {'connected_gene': 'GC01M234541', 'score': 0.77}, {'connected_gene': 'ENSG00000230404', 'score': 0.39}]
chr1 GH01I234477 234477438 234479744 1.99 [{'connected_gene': 'TARBP1', 'score': 555.13}, {'connected_gene': 'ARID4B', 'score': 14.74}, {'connected_gene': 'RPS21P1', 'score': 10.53}, {'connected_gene': 'PIR53843', 'score': 0.2}]
chr1 GH01I234854 234854200 234855001 1.01 [{'connected_gene': 'TARBP1', 'score': 1.77}, {'connected_gene': 'IRF2BP2', 'score': 1.37}, {'connected_gene': 'RNY4P16', 'score': 0.37}, {'connected_gene': 'PIR44809', 'score': 0.28}]
chr1 GH01I234809 234809001 234810250 0.72 [{'connected_gene': 'TARBP1', 'score': 4.49}, {'connected_gene': 'RNY4P16', 'score': 0.31}, {'connected_gene': 'PIR47455', 'score': 0.28}]
chr1 GH01I235026 235026209 235027103 0.69 [{'connected_gene': 'TARBP1', 'score': 10.73}, {'connected_gene': 'GC01M235000', 'score': 0.44}, {'connected_gene': 'GC01P235015', 'score': 0.39}]
chr1 GH01I234561 234561392 234563277 1.01 [{'connected_gene': 'TARBP1', 'score': 5.53}, {'connected_gene': 'ENSG00000230404', 'score': 0.77}, {'connected_gene': 'GC01M234541', 'score': 0.39}]
chr1 GH01I234476 234476201 234476600 0.46 [{'connected_gene': 'TARBP1', 'score': 5.82}, {'connected_gene': 'PIR53843', 'score': 0.2}]
chr1 GH01I234502 234502875 234503024 0.77 [{'connected_gene': 'TARBP1', 'score': 0.34}, {'connected_gene': 'GC01P234531', 'score': 0.31}]
chr1 GH01I234433 234433506 234434130 0.78 [{'connected_gene': 'TARBP1', 'score': 16.85}, {'connected_gene': 'PIR53843', 'score': 0.34}]
chr1 GH01I235324 235324596 235332071 2.33 [{'connected_gene': 'ARID4B', 'score': 623.12}, {'connected_gene': 'GGPS1', 'score': 574.24}, {'connected_gene': 'PIR53063', 'score': 550.77}, {'connected_gene': 'TBCE', 'score': 39.15}, {'connected_gene': 'RPS21P1', 'score': 34.18}, {'connected_gene': 'B3GALNT2', 'score': 12.58}, {'connected_gene': 'LINC01354', 'score': 11.13}, {'connected_gene': 'LOC101927765', 'score': 11.07}, {'connected_gene': 'LDHAP2', 'score': 10.96}, {'connected_gene': 'LYST', 'score': 9.99}, {'connected_gene': 'TARBP1', 'score': 9.77}, {'connected_gene': 'IRF2BP2', 'score': 9.76}]
chr1 GH01I234581 234581332 234587561 1.58 [{'connected_gene': 'ARID4B', 'score': 14.82}, {'connected_gene': 'GGPS1', 'score': 13.24}, {'connected_gene': 'TARBP1', 'score': 10.97}, {'connected_gene': 'LINC01354', 'score': 6.03}, {'connected_gene': 'GC01P234594', 'score': 0.44}, {'connected_gene': 'ENSG00000230404', 'score': 0.37}]
chr1 GH01I234777 234777913 234779023 1.51 [{'connected_gene': 'ARID4B', 'score': 29.55}, {'connected_gene': 'TBCE', 'score': 20.12}, {'connected_gene': 'RPS21P1', 'score': 15.35}, {'connected_gene': 'TARBP1', 'score': 14.05}, {'connected_gene': 'IRF2BP2', 'score': 12.18}, {'connected_gene': 'PIR47455', 'score': 0.44}, {'connected_gene': 'RNY4P16', 'score': 0.22}]
chr1 GH01I234514 234514911 234516815 1.06 [{'connected_gene': 'ARID4B', 'score': 9.88}, {'connected_gene': 'GC01P234531', 'score': 0.37}, {'connected_gene': 'TARBP1', 'score': 0.28}]
chr1 GH01I234630 234630755 234633729 1.47 [{'connected_gene': 'ARID4B', 'score': 14.74}, {'connected_gene': 'LINC00184', 'score': 14.6}, {'connected_gene': 'RPS21P1', 'score': 10.53}, {'connected_gene': 'TARBP1', 'score': 1.88}, {'connected_gene': 'LOC105373207', 'score': 0.39}]
chr1 GH01I234865 234865401 234867965 1.46 [{'connected_gene': 'ARID4B', 'score': 35.61}, {'connected_gene': 'RPS21P1', 'score': 25.9}, {'connected_gene': 'TBCE', 'score': 23.02}, {'connected_gene': 'IRF2BP2', 'score': 11.13}, {'connected_gene': 'TARBP1', 'score': 10.75}, {'connected_gene': 'PIR44809', 'score': 0.31}, {'connected_gene': 'RNY4P16', 'score': 0.31}]
chr1 GH01I234869 234869060 234872636 1.01 [{'connected_gene': 'ARID4B', 'score': 161.43}, {'connected_gene': 'RPS21P1', 'score': 104.45}, {'connected_gene': 'TBCE', 'score': 68.69}, {'connected_gene': 'IRF2BP2', 'score': 63.46}, {'connected_gene': 'LDHAP2', 'score': 29.12}, {'connected_gene': 'LINC01354', 'score': 20.1}, {'connected_gene': 'GGPS1', 'score': 10.18}, {'connected_gene': 'TARBP1', 'score': 9.8}, {'connected_gene': 'PIR44809', 'score': 0.34}, {'connected_gene': 'RNY4P16', 'score': 0.29}]
chr1 GH01I234498 234498284 234502112 1.71 [{'connected_gene': 'ARID4B', 'score': 41.19}, {'connected_gene': 'RPS21P1', 'score': 27.83}, {'connected_gene': 'IRF2BP2', 'score': 20.2}, {'connected_gene': 'TBCE', 'score': 11.07}, {'connected_gene': 'GGPS1', 'score': 10.83}, {'connected_gene': 'TARBP1', 'score': 0.34}, {'connected_gene': 'GC01P234531', 'score': 0.29}]
chr1 GH01I234423 234423430 234423770 0.22 [{'connected_gene': 'COA6', 'score': 10.8}, {'connected_gene': 'PIR53843', 'score': 0.39}, {'connected_gene': 'TARBP1', 'score': 0.22}]
chr1 GH01I233667 233667932 233669795 1.17 [{'connected_gene': 'KCNK1', 'score': 28.83}, {'connected_gene': 'TARBP1', 'score': 10.73}, {'connected_gene': 'GC01P233696', 'score': 0.31}, {'connected_gene': 'MIR4427', 'score': 0.26}]
chr1 GH01I233720 233720978 233721330 0.78 [{'connected_gene': 'KCNK1', 'score': 24.13}, {'connected_gene': 'TARBP1', 'score': 10.73}, {'connected_gene': 'GC01P233727', 'score': 0.44}, {'connected_gene': 'GC01M233697', 'score': 0.34}]
chr1 GH01I235090 235090026 235091523 1.31 [{'connected_gene': 'IRF2BP2', 'score': 22.6}, {'connected_gene': 'TOMM20', 'score': 16.94}, {'connected_gene': 'RPS21P1', 'score': 14.38}, {'connected_gene': 'ARID4B', 'score': 12.64}, {'connected_gene': 'ENSG00000228830', 'score': 11.9}, {'connected_gene': 'SNORA14B', 'score': 11.55}, {'connected_gene': 'TARBP1', 'score': 11.31}, {'connected_gene': 'LDHAP2', 'score': 11.21}, {'connected_gene': 'ENSG00000212144', 'score': 10.85}, {'connected_gene': 'GGPS1', 'score': 5.4}, {'connected_gene': 'ENSG00000233018', 'score': 0.44}, {'connected_gene': 'LINC01348', 'score': 0.37}]
chr1 GH01I234489 234489729 234490097 0.54 [{'connected_gene': 'IRF2BP2', 'score': 11.98}, {'connected_gene': 'ENSG00000228830', 'score': 11.98}, {'connected_gene': 'ENSG00000212144', 'score': 11.71}, {'connected_gene': 'TARBP1', 'score': 2.57}, {'connected_gene': 'GC01P234531', 'score': 0.26}]
chr1 GH01I234494 234494242 234496610 1.52 [{'connected_gene': 'IRF2BP2', 'score': 11.99}, {'connected_gene': 'ENSG00000228830', 'score': 11.99}, {'connected_gene': 'ENSG00000212144', 'score': 11.72}, {'connected_gene': 'ARID4B', 'score': 9.88}, {'connected_gene': 'TARBP1', 'score': 2.7}, {'connected_gene': 'GC01P234531', 'score': 0.28}]
chr1 GH01I234598 234598388 234625305 2.94 [{'connected_gene': 'IRF2BP2', 'score': 620.5}, {'connected_gene': 'ARID4B', 'score': 133.74}, {'connected_gene': 'RPS21P1', 'score': 100.56}, {'connected_gene': 'TBCE', 'score': 59.31}, {'connected_gene': 'TARBP1', 'score': 21.16}, {'connected_gene': 'LINC01354', 'score': 15.51}, {'connected_gene': 'GGPS1', 'score': 12.71}, {'connected_gene': 'B3GALNT2', 'score': 12.51}, {'connected_gene': 'LOC101927765', 'score': 11.11}, {'connected_gene': 'LINC00184', 'score': 9.1}, {'connected_gene': 'ENSG00000228830', 'score': 0.77}]
chr1 GH01I234236 234236912 234237266 0.24 [{'connected_gene': 'LOC102724100', 'score': 11.24}, {'connected_gene': 'TARBP1', 'score': 1.93}, {'connected_gene': 'LOC105373206', 'score': 0.34}, {'connected_gene': 'ENSG00000233332', 'score': 0.34}, {'connected_gene': 'SLC35F3', 'score': 0.06}]
chr1 GH01I234517 234517201 234517800 0.85 [{'connected_gene': 'LOC101927765', 'score': 11.15}, {'connected_gene': 'GC01P234531', 'score': 0.39}, {'connected_gene': 'TARBP1', 'score': 0.28}]
chr1 GH01I234519 234518001 234518200 0.58 [{'connected_gene': 'LOC101927765', 'score': 11.15}, {'connected_gene': 'GC01P234531', 'score': 0.39}, {'connected_gene': 'TARBP1', 'score': 0.28}]
chr1 GH01I234509 234509601 234510262 1.22 [{'connected_gene': 'LOC101927765', 'score': 10.59}, {'connected_gene': 'ARID4B', 'score': 10.28}, {'connected_gene': 'GC01P234531', 'score': 0.34}, {'connected_gene': 'TARBP1', 'score': 0.29}]
chr1 GH01I234398 234398088 234399600 1.24 [{'connected_gene': 'LOC101927765', 'score': 26.35}, {'connected_gene': 'COA6', 'score': 22.27}, {'connected_gene': 'PIR42213', 'score': 0.44}, {'connected_gene': 'TARBP1', 'score': 0.18}]
chr1 GH01I234400 234400441 234402087 0.79 [{'connected_gene': 'LOC101927765', 'score': 30.56}, {'connected_gene': 'COA6', 'score': 12.76}, {'connected_gene': 'PIR42213', 'score': 0.44}, {'connected_gene': 'TARBP1', 'score': 0.18}]
chr1 GH01I234525 234525202 234525800 0.89 [{'connected_gene': 'LINC01354', 'score': 10.16}, {'connected_gene': 'GC01P234531', 'score': 0.44}, {'connected_gene': 'TARBP1', 'score': 0.25}]
chr1 GH01I234512 234512201 234513349 1.06 [{'connected_gene': 'GC01P234531', 'score': 0.37}, {'connected_gene': 'TARBP1', 'score': 0.29}]
chr1 GH01I234518 234518479 234520071 0.43 [{'connected_gene': 'GC01P234531', 'score': 0.39}, {'connected_gene': 'TARBP1', 'score': 0.26}]
chr1 GH01I234508 234508415 234508564 0.69 [{'connected_gene': 'ENSG00000212144', 'score': 12.19}, {'connected_gene': 'TARBP1', 'score': 12.03}, {'connected_gene': 'GC01P234531', 'score': 0.34}]
chr1 GH01I234486 234486922 234487800 1.27 [{'connected_gene': 'ENSG00000212144', 'score': 10.63}, {'connected_gene': 'SNORA14B', 'score': 10.04}, {'connected_gene': 'TOMM20', 'score': 10.04}, {'connected_gene': 'TARBP1', 'score': 0.44}, {'connected_gene': 'GC01P234531', 'score': 0.26}]
chr1 GH01I234766 234766869 234776778 1.8 [{'connected_gene': 'PIR47455', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 35.98}, {'connected_gene': 'IRF2BP2', 'score': 14.05}, {'connected_gene': 'RPS21P1', 'score': 13.09}, {'connected_gene': 'GGPS1', 'score': 11.76}, {'connected_gene': 'TBCE', 'score': 10.78}, {'connected_gene': 'LDHAP2', 'score': 10.01}, {'connected_gene': 'TARBP1', 'score': 2.58}, {'connected_gene': 'RNY4P16', 'score': 0.2}]
chr1 GH01I234968 234968350 234989683 2.19 [{'connected_gene': 'ENSG00000258082', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 138.49}, {'connected_gene': 'RPS21P1', 'score': 66.27}, {'connected_gene': 'GGPS1', 'score': 59.11}, {'connected_gene': 'IRF2BP2', 'score': 55.22}, {'connected_gene': 'TBCE', 'score': 48.93}, {'connected_gene': 'LDHAP2', 'score': 19.49}, {'connected_gene': 'LOC101927851', 'score': 17.55}, {'connected_gene': 'TARBP1', 'score': 13.97}, {'connected_gene': 'ENSG00000228830', 'score': 12.2}, {'connected_gene': 'LINC01354', 'score': 11.15}, {'connected_gene': 'GNG4', 'score': 10.98}, {'connected_gene': 'TOMM20', 'score': 9.8}, {'connected_gene': 'RBM34', 'score': 2.08}]
chr1 GH01I234490 234488564 234489364 0.66 [{'connected_gene': 'ENSG00000228830', 'score': 11.98}, {'connected_gene': 'IRF2BP2', 'score': 11.98}, {'connected_gene': 'ENSG00000212144', 'score': 11.71}, {'connected_gene': 'TARBP1', 'score': 0.44}, {'connected_gene': 'GC01P234531', 'score': 0.26}]
chr1 GH01I234488 234488146 234488354 0.77 [{'connected_gene': 'ENSG00000228830', 'score': 11.98}, {'connected_gene': 'IRF2BP2', 'score': 11.98}, {'connected_gene': 'ENSG00000212144', 'score': 11.71}, {'connected_gene': 'TARBP1', 'score': 2.07}, {'connected_gene': 'GC01P234531', 'score': 0.26}]
chr1 GH01I235092 235092893 235094315 1.08 [{'connected_gene': 'ENSG00000228830', 'score': 11.9}, {'connected_gene': 'IRF2BP2', 'score': 11.9}, {'connected_gene': 'SNORA14B', 'score': 11.57}, {'connected_gene': 'TOMM20', 'score': 11.55}, {'connected_gene': 'TARBP1', 'score': 11.31}, {'connected_gene': 'ENSG00000212144', 'score': 10.83}, {'connected_gene': 'ENSG00000233018', 'score': 0.77}, {'connected_gene': 'LINC01348', 'score': 0.37}]
chr1 GH01I234558 234558962 234560717 0.68 [{'connected_gene': 'ENSG00000212144', 'score': 12.91}, {'connected_gene': 'LINC01354', 'score': 5.42}, {'connected_gene': 'LINC00184', 'score': 5.1}, {'connected_gene': 'TARBP1', 'score': 4.74}, {'connected_gene': 'GC01M234541', 'score': 0.44}, {'connected_gene': 'ENSG00000230404', 'score': 0.44}]

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