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
ENST00000261023 [[187454791, 187455250], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187495523, 187495585], [187498055, 187498101], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187545628]] [[187455065, 187455250], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187495523, 187495585], [187498055, 187498101], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187542019]]
ENST00000374907 [[187454806, 187455250], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187545624]] [[187455065, 187455250], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187542019]]
ENST00000433736 [[187464931, 187465108], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187495523, 187495585], [187498055, 187498101], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187542168]] [[187465061, 187465108], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187495523, 187495585], [187498055, 187498101], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187542019]]
ENST00000460641 [[187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532747]] None
ENST00000496477 [[187532374, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540365]] None
ENST00000496854 [[187533250, 187533647], [187534427, 187534641]] None
ENST00000474571 [[187533571, 187533647], [187534427, 187534684]] None
ENST00000430709 [[187533603, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187541010]] [[187533603, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540684]]
NM_001145000 [[187454789, 187455250], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187545629]] [[187455065, 187455250], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187542019]]
NM_002210 [[187454789, 187455250], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187495523, 187495585], [187498055, 187498101], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187545629]] [[187455065, 187455250], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187495523, 187495585], [187498055, 187498101], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187542019]]
NM_001144999 [[187464931, 187465108], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187495523, 187495585], [187498055, 187498101], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187545629]] [[187465061, 187465108], [187466747, 187466878], [187487065, 187487157], [187490199, 187490314], [187495523, 187495585], [187498055, 187498101], [187500808, 187500934], [187501791, 187501836], [187503003, 187503047], [187503135, 187503192], [187505641, 187505694], [187506112, 187506315], [187511412, 187511604], [187514566, 187514612], [187516708, 187516816], [187519376, 187519435], [187520973, 187521128], [187523764, 187523902], [187528494, 187528562], [187529220, 187529368], [187529852, 187529945], [187531430, 187531510], [187531876, 187531957], [187532397, 187532503], [187533488, 187533647], [187534427, 187534541], [187540330, 187540444], [187540546, 187540654], [187541539, 187541662], [187541923, 187542019]]
Promoter
Chrom Start End Description
chr2 187454391 187454402 CAGE_peak_8_at_ITGAV_5end
chr2 187454515 187454520 CAGE_peak_6_at_ITGAV_5end
chr2 187454714 187454748 CAGE_peak_2_at_ITGAV_5end
chr2 187454749 187454808 CAGE_peak_1_at_ITGAV_5end
chr2 187454877 187454882 CAGE_peak_5_at_ITGAV_5end
chr2 187454920 187454931 CAGE_peak_4_at_ITGAV_5end
chr2 187455049 187455063 CAGE_peak_3_at_ITGAV_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I186482 186482362 186488201 2.51 [{'connected_gene': 'ZC3H15', 'score': 550.77}, {'connected_gene': 'ITGAV', 'score': 24.32}, {'connected_gene': 'ENSG00000259915', 'score': 16.2}, {'connected_gene': 'FSIP2-AS1', 'score': 11.34}, {'connected_gene': 'LOC101927196', 'score': 4.89}, {'connected_gene': 'LOC105373785', 'score': 0.31}]
chr2 GH02I186555 186555315 186555561 0.6 [{'connected_gene': 'ITGAV', 'score': 5.58}, {'connected_gene': 'ZC3H15', 'score': 4.34}, {'connected_gene': 'DPRXP1', 'score': 0.2}]
chr2 GH02I186560 186560769 186563004 0.68 [{'connected_gene': 'ITGAV', 'score': 5.03}, {'connected_gene': 'DPRXP1', 'score': 0.19}]
chr2 GH02I186532 186532629 186533995 0.8 [{'connected_gene': 'ITGAV', 'score': 24.15}, {'connected_gene': 'ENSG00000259915', 'score': 8.23}, {'connected_gene': 'DPRXP1', 'score': 0.26}]
chr2 GH02I186574 186574500 186577037 1.37 [{'connected_gene': 'ITGAV', 'score': 11.1}, {'connected_gene': 'ENSG00000227227', 'score': 10.33}, {'connected_gene': 'FAM171B', 'score': 10.33}, {'connected_gene': 'ENSG00000259915', 'score': 8.09}, {'connected_gene': 'DPRXP1', 'score': 0.17}]
chr2 GH02I186757 186757194 186757343 0.43 [{'connected_gene': 'ITGAV', 'score': 4.9}, {'connected_gene': 'ENSG00000227227', 'score': 0.21}, {'connected_gene': 'FAM171B', 'score': 0.21}, {'connected_gene': 'ZSWIM2', 'score': 0.16}]
chr2 GH02I186595 186595274 186595423 0.84 [{'connected_gene': 'ITGAV', 'score': 0.44}, {'connected_gene': 'FAM171B', 'score': 0.15}]
chr2 GH02I186613 186613174 186613323 0.2 [{'connected_gene': 'ITGAV', 'score': 12.15}, {'connected_gene': 'FAM171B', 'score': 0.18}]
chr2 GH02I186592 186592973 186593313 0.38 [{'connected_gene': 'ITGAV', 'score': 0.77}, {'connected_gene': 'FAM171B', 'score': 0.15}]
chr2 GH02I186542 186542632 186547717 1.29 [{'connected_gene': 'ITGAV', 'score': 13.13}, {'connected_gene': 'RPL21P32', 'score': 10.07}, {'connected_gene': 'ENSG00000259915', 'score': 8.6}, {'connected_gene': 'FAM171B', 'score': 6.79}, {'connected_gene': 'LOC101927196', 'score': 4.06}, {'connected_gene': 'DPRXP1', 'score': 0.22}]
chr2 GH02I186588 186588677 186592630 2.08 [{'connected_gene': 'ITGAV', 'score': 562.93}, {'connected_gene': 'RPL21P32', 'score': 12.82}, {'connected_gene': 'ENSG00000259915', 'score': 7.55}, {'connected_gene': 'LOC101927196', 'score': 6.0}, {'connected_gene': 'FAM171B', 'score': 0.15}]
chr2 GH02I186693 186693474 186695830 1.87 [{'connected_gene': 'FAM171B', 'score': 564.56}, {'connected_gene': 'ENSG00000227227', 'score': 550.77}, {'connected_gene': 'ITGAV', 'score': 6.61}, {'connected_gene': 'TFPI', 'score': 4.94}]
chr2 GH02I186848 186848557 186849993 1.81 [{'connected_gene': 'ZSWIM2', 'score': 555.09}, {'connected_gene': 'FAM171B', 'score': 12.79}, {'connected_gene': 'LINC01473', 'score': 11.86}, {'connected_gene': 'ENSG00000259915', 'score': 9.85}, {'connected_gene': 'ITGAV', 'score': 4.08}, {'connected_gene': 'PIR60867', 'score': 0.1}, {'connected_gene': 'GC02M187006', 'score': 0.1}]
chr2 GH02I186605 186605000 186605201 0.46 [{'connected_gene': 'RPL21P32', 'score': 13.0}, {'connected_gene': 'ITGAV', 'score': 0.37}, {'connected_gene': 'FAM171B', 'score': 0.17}]
chr2 GH02I186518 186518351 186519763 0.63 [{'connected_gene': 'ENSG00000259915', 'score': 15.27}, {'connected_gene': 'DPRXP1', 'score': 0.31}, {'connected_gene': 'ITGAV', 'score': 0.19}]
chr2 GH02I186554 186554445 186554785 0.38 [{'connected_gene': 'ENSG00000259915', 'score': 8.09}, {'connected_gene': 'ITGAV', 'score': 6.26}, {'connected_gene': 'DPRXP1', 'score': 0.2}]
chr2 GH02I186540 186540833 186541608 0.2 [{'connected_gene': 'ENSG00000259915', 'score': 8.35}, {'connected_gene': 'ITGAV', 'score': 0.25}, {'connected_gene': 'DPRXP1', 'score': 0.23}]
chr2 GH02I186569 186569792 186571254 0.94 [{'connected_gene': 'ENSG00000259915', 'score': 9.03}, {'connected_gene': 'ITGAV', 'score': 0.37}, {'connected_gene': 'DPRXP1', 'score': 0.18}]
chr2 GH02I186325 186325639 186326903 0.2 [{'connected_gene': 'ENSG00000259915', 'score': 16.34}, {'connected_gene': 'ITGAV', 'score': 10.52}, {'connected_gene': 'RPL23AP35', 'score': 0.21}]
chr2 GH02I186572 186572599 186574324 0.54 [{'connected_gene': 'ENSG00000227227', 'score': 10.33}, {'connected_gene': 'FAM171B', 'score': 10.33}, {'connected_gene': 'ENSG00000259915', 'score': 8.42}, {'connected_gene': 'ITGAV', 'score': 0.37}, {'connected_gene': 'DPRXP1', 'score': 0.18}]
chr2 GH02I186724 186724327 186725177 0.2 [{'connected_gene': 'ENSG00000227227', 'score': 12.05}, {'connected_gene': 'FAM171B', 'score': 12.03}, {'connected_gene': 'ITGAV', 'score': 5.94}, {'connected_gene': 'ZSWIM2', 'score': 0.13}]
chr2 GH02I186641 186641834 186642003 0.77 [{'connected_gene': 'ENSG00000227227', 'score': 11.51}, {'connected_gene': 'FAM171B', 'score': 11.51}, {'connected_gene': 'ITGAV', 'score': 11.13}]

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