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
ENST00000453134 [[77086897, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111830], [77231847, 77231887], [77303805, 77303906], [77478535, 77478680], [77613356, 77613550]] [[77086964, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111797]]
ENST00000583458 [[77085426, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092915], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102867], [77111575, 77111830], [77231847, 77231887], [77303805, 77303906], [77478535, 77478680]] [[77086964, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092915], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102867], [77111575, 77111797]]
ENST00000415831 [[77085427, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111830], [77231847, 77231887], [77303805, 77303906], [77478535, 77478563]] [[77086964, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111797]]
ENST00000582043 [[77086881, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092915], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77100154, 77100208], [77102732, 77102870], [77111575, 77111830], [77231847, 77231887]] [[77086964, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092915], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77100154, 77100208], [77102732, 77102870], [77111575, 77111797]]
ENST00000580155 [[77086897, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111830], [77231847, 77231887], [77303805, 77303906], [77478535, 77478680], [77512036, 77512230]] [[77086964, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111797]]
ENST00000584778 [[77090338, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111830], [77231847, 77231887], [77303805, 77303906], [77478535, 77478680], [77504852, 77504950]] [[77090490, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111797]]
ENST00000582139 [[77111784, 77111830], [77204530, 77204638]] [[77111784, 77111797]]
ENST00000578887 [[77229708, 77231887], [77303805, 77303906], [77419788, 77420202]] None
ENST00000581393 [[77086897, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77094590]] None
ENST00000578998 [[77086928, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77096492]] None
ENST00000582880 [[77088028, 77088723], [77090532, 77090611], [77091594, 77091656], [77092734, 77092775]] [[77088678, 77088723], [77090532, 77090611], [77091594, 77091656], [77092734, 77092775]]
ENST00000582894 [[77088461, 77088723], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093808]] [[77088678, 77088723], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093808]]
ENST00000580508 [[77111779, 77111830], [77179345, 77179554]] [[77111779, 77111830], [77179345, 77179450]]
ENST00000582344 [[77294285, 77294502], [77303805, 77303909]] None
NM_001082575 [[77085426, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111830], [77231847, 77231887], [77303805, 77303906], [77478535, 77478680], [77512036, 77512230]] [[77086964, 77086967], [77090532, 77090611], [77091594, 77091656], [77092734, 77092774], [77093373, 77093506], [77093773, 77093827], [77097665, 77097726], [77099243, 77099336], [77100154, 77100208], [77102732, 77102870], [77111575, 77111797]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I079227 79227544 79229231 0.38 [{'connected_gene': 'EIF4A3', 'score': 15.66}, {'connected_gene': 'USP36', 'score': 11.71}, {'connected_gene': 'ENGASE', 'score': 10.79}, {'connected_gene': 'SGSH', 'score': 9.88}, {'connected_gene': 'CANT1', 'score': 9.74}, {'connected_gene': 'PIR62880', 'score': 0.34}, {'connected_gene': 'GC17M079268', 'score': 0.26}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I080252 80252622 80266776 2.87 [{'connected_gene': 'RNF213', 'score': 558.49}, {'connected_gene': 'GC17M080259', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 17.75}, {'connected_gene': 'CHMP6', 'score': 13.86}, {'connected_gene': 'ENSG00000262580', 'score': 11.85}, {'connected_gene': 'CARD14', 'score': 11.72}, {'connected_gene': 'CEP131', 'score': 9.67}, {'connected_gene': 'RPL12P37', 'score': 5.75}, {'connected_gene': 'SLC26A11', 'score': 5.49}, {'connected_gene': 'RBFOX3', 'score': 5.18}, {'connected_gene': 'SGSH', 'score': 3.72}, {'connected_gene': 'GAA', 'score': 2.76}]
chr17 GH17I079391 79391899 79392048 0.72 [{'connected_gene': 'USP36', 'score': 17.5}, {'connected_gene': 'EIF4A3', 'score': 14.78}, {'connected_gene': 'GC17M079381', 'score': 0.77}, {'connected_gene': 'PIR34960', 'score': 0.18}, {'connected_gene': 'RBFOX3', 'score': 0.08}]
chr17 GH17I079114 79114426 79115238 0.84 [{'connected_gene': 'USP36', 'score': 11.28}, {'connected_gene': 'C1QTNF1', 'score': 9.83}, {'connected_gene': 'ENSG00000266711', 'score': 0.37}, {'connected_gene': 'PIR37581', 'score': 0.31}, {'connected_gene': 'RBFOX3', 'score': 0.04}]
chr17 GH17I079219 79219328 79221529 1.13 [{'connected_gene': 'CBX8', 'score': 4.92}, {'connected_gene': 'RBFOX3', 'score': 2.03}, {'connected_gene': 'PIR62880', 'score': 0.39}, {'connected_gene': 'GC17M079268', 'score': 0.23}]
chr17 GH17I079294 79294599 79294748 0.93 [{'connected_gene': 'CCDC40', 'score': 10.49}, {'connected_gene': 'USP36', 'score': 9.72}, {'connected_gene': 'GC17M079269', 'score': 0.34}, {'connected_gene': 'GC17P079350', 'score': 0.22}, {'connected_gene': 'RBFOX3', 'score': 0.06}]
chr17 GH17I079183 79183459 79183648 0.96 [{'connected_gene': 'CCDC40', 'score': 11.57}, {'connected_gene': 'GC17P079166', 'score': 0.37}, {'connected_gene': 'PIR62880', 'score': 0.34}, {'connected_gene': 'RBFOX3', 'score': 0.04}]
chr17 GH17I079192 79192574 79194299 0.98 [{'connected_gene': 'GAA', 'score': 5.22}, {'connected_gene': 'PIR62880', 'score': 0.39}, {'connected_gene': 'GC17P079166', 'score': 0.31}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079516 79516100 79516159 0.5 [{'connected_gene': 'RBFOX3', 'score': 550.16}, {'connected_gene': 'GC17P079469', 'score': 0.25}, {'connected_gene': 'ENSG00000263278', 'score': 0.17}]
chr17 GH17I079408 79408139 79408513 0.36 [{'connected_gene': 'RBFOX3', 'score': 3.27}, {'connected_gene': 'GC17M079381', 'score': 0.34}, {'connected_gene': 'PIR34960', 'score': 0.22}]
chr17 GH17I079394 79393943 79394170 0.52 [{'connected_gene': 'RBFOX3', 'score': 2.72}, {'connected_gene': 'GC17M079381', 'score': 0.44}, {'connected_gene': 'PIR34960', 'score': 0.19}]
chr17 GH17I079365 79365693 79366045 0.34 [{'connected_gene': 'RBFOX3', 'score': 3.78}, {'connected_gene': 'GC17P079350', 'score': 0.37}, {'connected_gene': 'GC17M079381', 'score': 0.34}]
chr17 GH17I079346 79346905 79347185 0.22 [{'connected_gene': 'C1QTNF1', 'score': 10.18}, {'connected_gene': 'RBFOX3', 'score': 3.16}, {'connected_gene': 'GC17P079350', 'score': 0.77}, {'connected_gene': 'GC17M079269', 'score': 0.19}]
chr17 GH17I079339 79339654 79341849 0.74 [{'connected_gene': 'C1QTNF1', 'score': 10.18}, {'connected_gene': 'GC17P079350', 'score': 0.44}, {'connected_gene': 'GC17M079269', 'score': 0.2}, {'connected_gene': 'RBFOX3', 'score': 0.06}]
chr17 GH17I079658 79658032 79658114 0.22 [{'connected_gene': 'LOC101929831', 'score': 550.77}, {'connected_gene': 'RBFOX3', 'score': 1.59}]
chr17 GH17I079273 79273838 79274039 0.22 [{'connected_gene': 'GC17M079269', 'score': 550.77}, {'connected_gene': 'RBFOX3', 'score': 7.44}, {'connected_gene': 'GC17P079350', 'score': 0.18}]
chr17 GH17I079149 79149966 79150177 0.4 [{'connected_gene': 'GC17M079150', 'score': 550.77}, {'connected_gene': 'RBFOX3', 'score': 6.82}, {'connected_gene': 'ENSG00000266711', 'score': 0.37}]
chr17 GH17I079121 79121681 79121850 0.22 [{'connected_gene': 'ENSG00000266711', 'score': 0.39}, {'connected_gene': 'PIR37581', 'score': 0.29}, {'connected_gene': 'RBFOX3', 'score': 0.04}]
chr17 GH17I079182 79182416 79182798 0.23 [{'connected_gene': 'GC17P079166', 'score': 0.37}, {'connected_gene': 'PIR62880', 'score': 0.34}, {'connected_gene': 'RBFOX3', 'score': 0.04}]
chr17 GH17I079203 79201959 79202128 0.69 [{'connected_gene': 'PIR62880', 'score': 0.77}, {'connected_gene': 'GC17P079166', 'score': 0.28}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079201 79201119 79201268 0.4 [{'connected_gene': 'PIR62880', 'score': 0.77}, {'connected_gene': 'GC17P079166', 'score': 0.28}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079306 79306113 79307342 0.68 [{'connected_gene': 'GC17M079269', 'score': 0.29}, {'connected_gene': 'GC17P079350', 'score': 0.26}, {'connected_gene': 'RBFOX3', 'score': 0.06}]
chr17 GH17I079305 79305899 79306048 0.63 [{'connected_gene': 'GC17M079269', 'score': 0.29}, {'connected_gene': 'GC17P079350', 'score': 0.26}, {'connected_gene': 'RBFOX3', 'score': 0.06}]
chr17 GH17I079213 79213399 79213648 0.4 [{'connected_gene': 'PIR62880', 'score': 0.44}, {'connected_gene': 'GC17M079268', 'score': 0.22}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079400 79400887 79401812 1.03 [{'connected_gene': 'GC17M079381', 'score': 0.39}, {'connected_gene': 'PIR34960', 'score': 0.2}, {'connected_gene': 'RBFOX3', 'score': 0.08}]
chr17 GH17I079162 79162493 79162729 0.58 [{'connected_gene': 'GC17P079166', 'score': 0.77}, {'connected_gene': 'GC17M079150', 'score': 0.39}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079161 79161419 79161568 0.6 [{'connected_gene': 'GC17P079166', 'score': 0.77}, {'connected_gene': 'GC17M079150', 'score': 0.39}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079202 79202440 79202634 0.34 [{'connected_gene': 'PIR62880', 'score': 0.77}, {'connected_gene': 'GC17P079166', 'score': 0.28}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079188 79188079 79188248 0.83 [{'connected_gene': 'PIR62880', 'score': 0.37}, {'connected_gene': 'GC17P079166', 'score': 0.34}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079473 79473073 79474288 0.93 [{'connected_gene': 'GC17P079469', 'score': 0.77}, {'connected_gene': 'RBFOX3', 'score': 0.12}, {'connected_gene': 'ENSG00000263278', 'score': 0.12}]
chr17 GH17I079211 79211732 79213371 0.51 [{'connected_gene': 'PIR62880', 'score': 0.44}, {'connected_gene': 'GC17M079268', 'score': 0.22}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079393 79393379 79393528 0.73 [{'connected_gene': 'GC17M079381', 'score': 0.44}, {'connected_gene': 'PIR34960', 'score': 0.19}, {'connected_gene': 'RBFOX3', 'score': 0.08}]
chr17 GH17I079388 79388579 79388748 0.63 [{'connected_gene': 'GC17M079381', 'score': 550.77}, {'connected_gene': 'C1QTNF1', 'score': 11.21}, {'connected_gene': 'PIR34960', 'score': 0.18}, {'connected_gene': 'RBFOX3', 'score': 0.07}]

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