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
ENST00000544612 [[94226794, 94227201], [94229769, 94230117], [94231236, 94232749]] [[94229859, 94230117], [94231236, 94231698]]
ENST00000540349 [[94227144, 94227201], [94229769, 94230243], [94231236, 94231278]] [[94229859, 94230237]]
ENST00000534911 [[94227149, 94227201], [94229769, 94230284], [94231236, 94231429]] [[94229859, 94230237]]
ENST00000535502 [[94227168, 94227201], [94229769, 94229994], [94231236, 94231493]] [[94229859, 94229994], [94231236, 94231493]]
ENST00000545130 [[94227169, 94227201], [94229769, 94230222], [94231236, 94231313]] [[94229859, 94230222], [94231236, 94231313]]
ENST00000544514 [[94227169, 94227201], [94229769, 94230117], [94231067, 94231130], [94231236, 94231380]] [[94229859, 94230117], [94231067, 94231070]]
ENST00000544253 [[94227173, 94227201], [94229769, 94232743]] [[94229859, 94230237]]
ENST00000541144 [[94227194, 94227336], [94229769, 94230194]] [[94229859, 94230194]]
ENST00000302755 [[94229765, 94230117], [94231236, 94232728]] [[94229859, 94230117], [94231236, 94231698]]
ENST00000539883 [[94229920, 94230427], [94231236, 94231509]] None
ENST00000538535 [[94230488, 94231130], [94231236, 94232743]] None
NM_017704 [[94227152, 94227201], [94229769, 94230117], [94231236, 94232744]] [[94229859, 94230117], [94231236, 94231698]]
Promoter
Chrom Start End Description
chr11 94227129 94227182 CAGE_peak_1_at_ANKRD49_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I093783 93783449 93786011 2.05 [{'connected_gene': 'MED17', 'score': 593.16}, {'connected_gene': 'TAF1D', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 59.46}, {'connected_gene': 'SNORA1', 'score': 41.9}, {'connected_gene': 'MRE11', 'score': 35.33}, {'connected_gene': 'ANKRD49', 'score': 32.09}, {'connected_gene': 'SNORA40', 'score': 11.34}, {'connected_gene': 'SNORD6', 'score': 11.33}, {'connected_gene': 'SNORD5', 'score': 11.33}, {'connected_gene': 'SNORA18', 'score': 11.33}, {'connected_gene': 'SNORA25', 'score': 11.33}, {'connected_gene': 'SNORA8', 'score': 11.33}, {'connected_gene': 'SNORA32', 'score': 11.33}, {'connected_gene': 'CEP295', 'score': 5.7}, {'connected_gene': 'GC11P093800', 'score': 0.37}, {'connected_gene': 'ENSG00000284057', 'score': 0.26}]
chr11 GH11I094238 94237935 94238064 0.71 [{'connected_gene': 'MED17', 'score': 26.27}, {'connected_gene': 'MRE11', 'score': 19.22}, {'connected_gene': 'ANKRD49', 'score': 14.54}, {'connected_gene': 'SNORA1', 'score': 12.18}, {'connected_gene': 'BUD13P1', 'score': 10.96}, {'connected_gene': 'CEP295', 'score': 10.76}, {'connected_gene': 'FUT4', 'score': 10.13}, {'connected_gene': 'LOC105369435', 'score': 0.28}, {'connected_gene': 'GC11P094202', 'score': 0.28}, {'connected_gene': 'GC11P094183', 'score': 0.23}, {'connected_gene': 'IZUMO1R', 'score': 0.2}]
chr11 GH11I093660 93660982 93663507 2.05 [{'connected_gene': 'CEP295', 'score': 581.7}, {'connected_gene': 'GC11P093662', 'score': 550.77}, {'connected_gene': 'MED17', 'score': 29.64}, {'connected_gene': 'ANKRD49', 'score': 23.97}, {'connected_gene': 'MRE11', 'score': 23.41}, {'connected_gene': 'SNORA1', 'score': 11.31}]
chr11 GH11I094237 94237795 94237864 0.82 [{'connected_gene': 'CEP295', 'score': 103.26}, {'connected_gene': 'MED17', 'score': 90.83}, {'connected_gene': 'MRE11', 'score': 68.78}, {'connected_gene': 'ANKRD49', 'score': 48.15}, {'connected_gene': 'SNORA1', 'score': 43.8}, {'connected_gene': 'BUD13P1', 'score': 42.83}, {'connected_gene': 'ENSG00000270578', 'score': 30.79}, {'connected_gene': 'KDM4D', 'score': 10.93}, {'connected_gene': 'ENSG00000255893', 'score': 10.41}, {'connected_gene': 'FUT4', 'score': 10.13}, {'connected_gene': 'SNORA18', 'score': 9.68}, {'connected_gene': 'LOC105369435', 'score': 0.28}, {'connected_gene': 'GC11P094202', 'score': 0.28}, {'connected_gene': 'GC11P094183', 'score': 0.23}, {'connected_gene': 'IZUMO1R', 'score': 0.2}]
chr11 GH11I093541 93541034 93544087 2.23 [{'connected_gene': 'SMCO4', 'score': 556.13}, {'connected_gene': 'MED17', 'score': 15.36}, {'connected_gene': 'ANKRD49', 'score': 13.53}, {'connected_gene': 'MRE11', 'score': 11.58}, {'connected_gene': 'SNORA1', 'score': 11.19}, {'connected_gene': 'CEP295', 'score': 5.57}, {'connected_gene': 'C11orf54', 'score': 4.3}, {'connected_gene': 'TAF1D', 'score': 4.16}, {'connected_gene': 'GC11P093545', 'score': 0.77}, {'connected_gene': 'PIR55384', 'score': 0.44}]
chr11 GH11I094526 94526401 94527000 0.66 [{'connected_gene': 'ANKRD49', 'score': 10.54}, {'connected_gene': 'C11orf97', 'score': 0.39}, {'connected_gene': 'PIWIL4', 'score': 0.37}, {'connected_gene': 'FUT4', 'score': 0.37}]
chr11 GH11I094525 94525750 94526285 0.51 [{'connected_gene': 'ANKRD49', 'score': 10.54}, {'connected_gene': 'C11orf97', 'score': 0.39}, {'connected_gene': 'PIWIL4', 'score': 0.37}, {'connected_gene': 'FUT4', 'score': 0.37}]
chr11 GH11I094972 94972298 94974401 2.01 [{'connected_gene': 'CWC15', 'score': 568.62}, {'connected_gene': 'KDM4D', 'score': 550.77}, {'connected_gene': 'ANKRD49', 'score': 13.55}, {'connected_gene': 'MRE11', 'score': 11.6}, {'connected_gene': 'FAM76B', 'score': 10.96}, {'connected_gene': 'GC11P094966', 'score': 0.44}]
chr11 GH11I094492 94492629 94495166 2.01 [{'connected_gene': 'MRE11', 'score': 590.01}, {'connected_gene': 'ANKRD49', 'score': 564.28}, {'connected_gene': 'ENSG00000255893', 'score': 52.98}, {'connected_gene': 'MED17', 'score': 15.32}, {'connected_gene': 'SNORA1', 'score': 11.13}]
chr11 GH11I094596 94596374 94598203 0.46 [{'connected_gene': 'MRE11', 'score': 10.62}, {'connected_gene': 'ANKRD49', 'score': 10.6}, {'connected_gene': 'ENSG00000255893', 'score': 9.66}, {'connected_gene': 'SNORA1', 'score': 4.29}, {'connected_gene': 'GC11M094556', 'score': 0.29}, {'connected_gene': 'LOC105369436', 'score': 0.28}, {'connected_gene': 'PIWIL4', 'score': 0.23}, {'connected_gene': 'LOC105369438', 'score': 0.11}]
chr11 GH11I094539 94539160 94540229 0.51 [{'connected_gene': 'MRE11', 'score': 19.09}, {'connected_gene': 'ANKRD49', 'score': 10.33}, {'connected_gene': 'ENSG00000255893', 'score': 9.98}, {'connected_gene': 'PANX1', 'score': 8.04}, {'connected_gene': 'PIWIL4', 'score': 0.77}, {'connected_gene': 'FUT4', 'score': 0.77}, {'connected_gene': 'C11orf97', 'score': 0.31}]
chr11 GH11I094541 94540463 94540762 0.2 [{'connected_gene': 'MRE11', 'score': 10.39}, {'connected_gene': 'ANKRD49', 'score': 10.33}, {'connected_gene': 'ENSG00000255893', 'score': 10.0}, {'connected_gene': 'PIWIL4', 'score': 0.77}, {'connected_gene': 'FUT4', 'score': 0.77}, {'connected_gene': 'C11orf97', 'score': 0.31}]
chr11 GH11I094537 94537441 94538150 0.2 [{'connected_gene': 'MRE11', 'score': 29.91}, {'connected_gene': 'ANKRD49', 'score': 10.34}, {'connected_gene': 'ENSG00000255893', 'score': 9.99}, {'connected_gene': 'PIWIL4', 'score': 0.44}, {'connected_gene': 'FUT4', 'score': 0.44}, {'connected_gene': 'C11orf97', 'score': 0.31}]
chr11 GH11I094536 94536097 94537213 0.4 [{'connected_gene': 'MRE11', 'score': 29.98}, {'connected_gene': 'ANKRD49', 'score': 10.34}, {'connected_gene': 'ENSG00000255893', 'score': 9.99}, {'connected_gene': 'PIWIL4', 'score': 0.44}, {'connected_gene': 'FUT4', 'score': 0.44}, {'connected_gene': 'C11orf97', 'score': 0.34}]
chr11 GH11I094533 94533736 94534861 0.94 [{'connected_gene': 'MRE11', 'score': 18.5}, {'connected_gene': 'ANKRD49', 'score': 10.34}, {'connected_gene': 'ENSG00000255893', 'score': 9.99}, {'connected_gene': 'PIWIL4', 'score': 0.44}, {'connected_gene': 'FUT4', 'score': 0.44}, {'connected_gene': 'C11orf97', 'score': 0.34}]
chr11 GH11I095364 95364321 95364906 0.8 [{'connected_gene': 'MRE11', 'score': 19.19}, {'connected_gene': 'ANKRD49', 'score': 14.5}, {'connected_gene': 'FAM76B', 'score': 14.26}, {'connected_gene': 'SESN3', 'score': 10.29}, {'connected_gene': 'MAML2', 'score': 10.28}, {'connected_gene': 'LOC101929295', 'score': 10.25}, {'connected_gene': 'FUT4', 'score': 10.1}, {'connected_gene': 'GC11M095337', 'score': 0.31}, {'connected_gene': 'LOC105369439', 'score': 0.15}]
chr11 GH11I094448 94448941 94450304 0.74 [{'connected_gene': 'MRE11', 'score': 62.84}, {'connected_gene': 'ANKRD49', 'score': 11.38}, {'connected_gene': 'ENSG00000255893', 'score': 11.15}, {'connected_gene': 'MIR548L', 'score': 0.37}, {'connected_gene': 'GPR83', 'score': 0.25}]
chr11 GH11I094504 94504815 94504964 0.6 [{'connected_gene': 'MRE11', 'score': 0.44}, {'connected_gene': 'ANKRD49', 'score': 0.39}]
chr11 GH11I094477 94477409 94478152 0.31 [{'connected_gene': 'MRE11', 'score': 37.46}, {'connected_gene': 'ENSG00000255893', 'score': 0.77}, {'connected_gene': 'ANKRD49', 'score': 0.37}]
chr11 GH11I094583 94583201 94584869 1.41 [{'connected_gene': 'MRE11', 'score': 7.65}, {'connected_gene': 'ENSG00000255893', 'score': 5.75}, {'connected_gene': 'FUT4', 'score': 5.25}, {'connected_gene': 'ANKRD49', 'score': 2.66}, {'connected_gene': 'PANX1', 'score': 1.75}, {'connected_gene': 'GC11M094556', 'score': 0.34}, {'connected_gene': 'PIWIL4', 'score': 0.26}, {'connected_gene': 'LOC105369436', 'score': 0.23}, {'connected_gene': 'LOC105369438', 'score': 0.1}]
chr11 GH11I093733 93733364 93743306 2.26 [{'connected_gene': 'C11orf54', 'score': 578.7}, {'connected_gene': 'TAF1D', 'score': 561.5}, {'connected_gene': 'MED17', 'score': 98.05}, {'connected_gene': 'ANKRD49', 'score': 61.44}, {'connected_gene': 'CEP295', 'score': 46.02}, {'connected_gene': 'MRE11', 'score': 43.64}, {'connected_gene': 'SNORA1', 'score': 34.88}, {'connected_gene': 'ENSG00000255445', 'score': 10.68}, {'connected_gene': 'SMCO4', 'score': 5.94}, {'connected_gene': 'GC11M093815', 'score': 0.77}, {'connected_gene': 'GC11P093740', 'score': 0.77}, {'connected_gene': 'MIR1304', 'score': 0.77}, {'connected_gene': 'SNORA40', 'score': 0.77}, {'connected_gene': 'SNORA18', 'score': 0.77}, {'connected_gene': 'GC11M093828', 'score': 0.77}, {'connected_gene': 'PIR37895', 'score': 0.77}, {'connected_gene': 'ENSG00000284057', 'score': 0.77}, {'connected_gene': 'GC11M093819', 'score': 0.77}, {'connected_gene': 'GC11M093824', 'score': 0.77}]
chr11 GH11I094542 94542835 94549648 2.23 [{'connected_gene': 'FUT4', 'score': 556.37}, {'connected_gene': 'GC11M094542', 'score': 550.77}, {'connected_gene': 'PIR62201', 'score': 550.77}, {'connected_gene': 'GC11P094548', 'score': 550.77}, {'connected_gene': 'MED17', 'score': 27.13}, {'connected_gene': 'CEP295', 'score': 22.53}, {'connected_gene': 'MRE11', 'score': 16.14}, {'connected_gene': 'ANKRD49', 'score': 14.15}, {'connected_gene': 'SNORA1', 'score': 10.86}, {'connected_gene': 'ENSG00000255666', 'score': 6.39}, {'connected_gene': 'LOC105369435', 'score': 5.88}, {'connected_gene': 'PIWIL4', 'score': 0.77}, {'connected_gene': 'LOC105369438', 'score': 0.08}]
chr11 GH11I094127 94127285 94137684 2.78 [{'connected_gene': 'PANX1', 'score': 574.06}, {'connected_gene': 'MED17', 'score': 43.25}, {'connected_gene': 'ANKRD49', 'score': 30.69}, {'connected_gene': 'MRE11', 'score': 26.25}, {'connected_gene': 'SNORA1', 'score': 23.78}, {'connected_gene': 'HEPHL1', 'score': 17.55}, {'connected_gene': 'FUT4', 'score': 2.13}, {'connected_gene': 'PIR47114', 'score': 0.77}, {'connected_gene': 'GC11P094183', 'score': 0.23}]
chr11 GH11I094705 94705247 94708039 1.26 [{'connected_gene': 'AMOTL1', 'score': 556.57}, {'connected_gene': 'MED17', 'score': 16.34}, {'connected_gene': 'SNORA1', 'score': 12.51}, {'connected_gene': 'MRE11', 'score': 11.48}, {'connected_gene': 'ANKRD49', 'score': 10.46}, {'connected_gene': 'KDM4E', 'score': 2.85}, {'connected_gene': 'LOC105369438', 'score': 0.29}]
chr11 GH11I094177 94177642 94179387 0.2 [{'connected_gene': 'GPR83', 'score': 18.21}, {'connected_gene': 'PANX1', 'score': 11.21}, {'connected_gene': 'ANKRD49', 'score': 10.23}, {'connected_gene': 'MRE11', 'score': 10.23}, {'connected_gene': 'ENSG00000255893', 'score': 9.72}, {'connected_gene': 'LOC105369435', 'score': 7.37}, {'connected_gene': 'GC11P094183', 'score': 0.77}, {'connected_gene': 'PIR47114', 'score': 0.25}]
chr11 GH11I094780 94780201 94782756 0.89 [{'connected_gene': 'LOC105369438', 'score': 10.93}, {'connected_gene': 'ANKRD49', 'score': 4.83}, {'connected_gene': 'GC11M094788', 'score': 0.39}, {'connected_gene': 'GC11M094750', 'score': 0.31}, {'connected_gene': 'AMOTL1', 'score': 0.18}]
chr11 GH11I094601 94601942 94604147 1.49 [{'connected_gene': 'LOC105369438', 'score': 10.83}, {'connected_gene': 'PIWIL4', 'score': 10.69}, {'connected_gene': 'FUT4', 'score': 9.82}, {'connected_gene': 'ENSG00000255893', 'score': 9.66}, {'connected_gene': 'MRE11', 'score': 7.65}, {'connected_gene': 'PANX1', 'score': 1.72}, {'connected_gene': 'ANKRD49', 'score': 1.26}, {'connected_gene': 'LOC105369436', 'score': 0.29}, {'connected_gene': 'GC11M094556', 'score': 0.28}]
chr11 GH11I095146 95146608 95154450 2.25 [{'connected_gene': 'LOC101929295', 'score': 556.79}, {'connected_gene': 'CEP57', 'score': 20.31}, {'connected_gene': 'FAM76B', 'score': 16.44}, {'connected_gene': 'FGFR3P2', 'score': 15.64}, {'connected_gene': 'SESN3', 'score': 15.61}, {'connected_gene': 'ANKRD49', 'score': 13.94}, {'connected_gene': 'MRE11', 'score': 12.94}, {'connected_gene': 'SRSF8', 'score': 7.48}, {'connected_gene': 'ENDOD1', 'score': 6.65}, {'connected_gene': 'LOC105369435', 'score': 5.31}, {'connected_gene': 'CWC15', 'score': 1.93}, {'connected_gene': 'KDM4E', 'score': 1.7}, {'connected_gene': 'ENSG00000270578', 'score': 0.44}]
chr11 GH11I095248 95248317 95249576 0.95 [{'connected_gene': 'FGFR3P2', 'score': 15.87}, {'connected_gene': 'FAM76B', 'score': 15.57}, {'connected_gene': 'MRE11', 'score': 14.34}, {'connected_gene': 'ANKRD49', 'score': 11.55}, {'connected_gene': 'CEP57', 'score': 11.34}, {'connected_gene': 'LOC101929295', 'score': 9.91}, {'connected_gene': 'GC11M095260', 'score': 0.39}, {'connected_gene': 'SESN3', 'score': 0.37}]
chr11 GH11I093717 93717236 93719682 1.19 [{'connected_gene': 'ENSG00000199875', 'score': 550.77}, {'connected_gene': 'GC11P093720', 'score': 550.77}, {'connected_gene': 'CEP295', 'score': 21.8}, {'connected_gene': 'MED17', 'score': 17.93}, {'connected_gene': 'ANKRD49', 'score': 14.27}, {'connected_gene': 'SNORA1', 'score': 13.51}, {'connected_gene': 'MRE11', 'score': 12.83}, {'connected_gene': 'TAF1D', 'score': 10.92}, {'connected_gene': 'SNORA18', 'score': 10.33}, {'connected_gene': 'GC11P093711', 'score': 0.44}]
chr11 GH11I095335 95335871 95342243 1.23 [{'connected_gene': 'GC11M095337', 'score': 550.77}, {'connected_gene': 'MRE11', 'score': 22.02}, {'connected_gene': 'FAM76B', 'score': 13.11}, {'connected_gene': 'SESN3', 'score': 11.13}, {'connected_gene': 'ANKRD49', 'score': 11.08}, {'connected_gene': 'LOC101929295', 'score': 11.07}, {'connected_gene': 'FGFR3P2', 'score': 9.86}, {'connected_gene': 'LOC105369439', 'score': 0.13}]

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