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
ENST00000511367 [[31400603, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31515560, 31515671], [31521229, 31521322], [31526185, 31527019], [31529146, 31529212], [31530904, 31531031], [31532096, 31532168]] [[31401538, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31515560, 31515671], [31521229, 31521322], [31526185, 31527019], [31529146, 31529166]]
ENST00000442743 [[31400608, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31521229, 31521322], [31526185, 31527019], [31529146, 31529213]] [[31401538, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31521229, 31521322], [31526185, 31527019], [31529146, 31529166]]
ENST00000344624 [[31400608, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31515560, 31515671], [31521229, 31521322], [31526185, 31527019], [31529146, 31529213]] [[31401538, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31515560, 31515671], [31521229, 31521322], [31526185, 31527019], [31529146, 31529166]]
ENST00000513349 [[31401240, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31521229, 31521322], [31526185, 31527019], [31529146, 31529212], [31530904, 31531031], [31531556, 31531632], [31532096, 31532216]] [[31401538, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31521229, 31521322], [31526185, 31527019], [31529146, 31529166]]
ENST00000505601 [[31449383, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31467248, 31467273], [31468045, 31468113]] None
ENST00000507174 [[31449475, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466593]] None
ENST00000514927 [[31401253, 31401669], [31405783, 31405830], [31406959, 31407063]] None
ENST00000511778 [[31401518, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423428]] None
ENST00000512166 [[31401657, 31401669], [31405783, 31405830], [31406959, 31407157]] None
ENST00000509067 [[31408842, 31409266], [31409356, 31409658]] None
ENST00000504133 [[31421430, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437431]] None
ENST00000510178 [[31421857, 31421974], [31422893, 31423051], [31424533, 31424578], [31429581, 31429640]] None
ENST00000509608 [[31464194, 31464450], [31466288, 31466388], [31468045, 31468098]] None
ENST00000512124 [[31467565, 31467719], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485018]] None
ENST00000511803 [[31467624, 31468170], [31472169, 31472340]] None
ENST00000510375 [[31468051, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31486779, 31486840]] None
ENST00000512885 [[31472233, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31489088, 31489190]] None
ENST00000512076 [[31493315, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31526185, 31526527]] [[31493315, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31526185, 31526527]]
ENST00000512302 [[31515100, 31515326], [31515560, 31515671], [31526185, 31526433]] [[31515100, 31515326], [31515560, 31515671], [31526185, 31526433]]
ENST00000507438 [[31526435, 31527019], [31529146, 31529212], [31530904, 31531031], [31532220, 31532303]] [[31526435, 31527019], [31529146, 31529166]]
ENST00000504361 [[31526861, 31527013], [31527610, 31527687], [31529146, 31529212], [31530904, 31531031], [31531556, 31531632], [31532096, 31532181]] None
NM_001100412 [[31400600, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31521229, 31521322], [31526185, 31527019], [31529146, 31529212], [31530904, 31531031], [31531556, 31531632], [31532096, 31532282]] [[31401538, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31521229, 31521322], [31526185, 31527019], [31529146, 31529166]]
NM_013235 [[31400600, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31515560, 31515671], [31521229, 31521322], [31526185, 31527019], [31529146, 31529212], [31530904, 31531031], [31532096, 31532282]] [[31401538, 31401669], [31405783, 31405830], [31406959, 31407052], [31409162, 31409266], [31409356, 31409439], [31410852, 31410994], [31421378, 31421484], [31422893, 31423051], [31424533, 31424578], [31429581, 31429652], [31431682, 31431785], [31435871, 31435971], [31437345, 31437405], [31448653, 31448714], [31449387, 31449526], [31451639, 31451747], [31464342, 31464450], [31466288, 31466388], [31468045, 31468170], [31472169, 31472339], [31483660, 31483735], [31484987, 31485069], [31486597, 31486669], [31493313, 31493400], [31495392, 31495479], [31504661, 31504742], [31508727, 31508882], [31511141, 31511283], [31515094, 31515326], [31515560, 31515671], [31521229, 31521322], [31526185, 31527019], [31529146, 31529166]]
Promoter
Chrom Start End Description
chr5 31532160 31532221 CAGE_peak_1_at_DROSHA_5end
chr5 31532238 31532249 CAGE_peak_2_at_DROSHA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I032302 32302432 32303802 0.83 [{'connected_gene': 'GOLPH3', 'score': 10.94}, {'connected_gene': 'MIR579', 'score': 10.65}, {'connected_gene': 'ZFR', 'score': 10.6}, {'connected_gene': 'DROSHA', 'score': 9.77}, {'connected_gene': 'MTMR12', 'score': 6.07}, {'connected_gene': 'GC05P032310', 'score': 0.44}, {'connected_gene': 'GC05M032181', 'score': 0.29}]
chr5 GH05I032311 32311055 32315352 2.28 [{'connected_gene': 'MTMR12', 'score': 556.43}, {'connected_gene': 'DROSHA', 'score': 10.39}, {'connected_gene': 'GC05P032360', 'score': 0.25}]
chr5 GH05I032442 32442430 32447440 2.28 [{'connected_gene': 'ZFR', 'score': 550.77}, {'connected_gene': 'DROSHA', 'score': 40.55}, {'connected_gene': 'MTMR12', 'score': 34.39}, {'connected_gene': 'ENSG00000249572', 'score': 13.48}, {'connected_gene': 'MIR579', 'score': 10.46}, {'connected_gene': 'LOC646616', 'score': 0.18}]
chr5 GH05I032272 32272852 32279200 1.5 [{'connected_gene': 'DROSHA', 'score': 13.42}, {'connected_gene': 'GOLPH3', 'score': 10.6}, {'connected_gene': 'MTMR12', 'score': 9.16}, {'connected_gene': 'RPL27P10', 'score': 6.01}, {'connected_gene': 'GC05M032181', 'score': 0.77}, {'connected_gene': 'GC05P032310', 'score': 0.29}]
chr5 GH05I031530 31530283 31534085 2.06 [{'connected_gene': 'DROSHA', 'score': 586.3}, {'connected_gene': 'C5orf22', 'score': 562.72}, {'connected_gene': 'MTMR12', 'score': 12.09}, {'connected_gene': 'ENSG00000206682', 'score': 0.31}]
chr5 GH05I031361 31361056 31367567 0.99 [{'connected_gene': 'DROSHA', 'score': 60.27}, {'connected_gene': 'MTMR12', 'score': 51.25}, {'connected_gene': 'GOLPH3', 'score': 18.12}, {'connected_gene': 'ENSG00000254138', 'score': 0.15}, {'connected_gene': 'GC05P031506', 'score': 0.11}]
chr5 GH05I031774 31774516 31776317 0.67 [{'connected_gene': 'DROSHA', 'score': 38.99}, {'connected_gene': 'MTMR12', 'score': 20.51}, {'connected_gene': 'PDZD2', 'score': 11.25}, {'connected_gene': 'ZFR', 'score': 10.89}, {'connected_gene': 'ENSG00000250764', 'score': 10.7}, {'connected_gene': 'ENSG00000249688', 'score': 0.34}, {'connected_gene': 'RNU6-358P', 'score': 0.25}, {'connected_gene': 'GC05M031821', 'score': 0.25}]
chr5 GH05I031730 31730232 31732854 0.43 [{'connected_gene': 'DROSHA', 'score': 14.56}, {'connected_gene': 'MTMR12', 'score': 11.6}, {'connected_gene': 'PDZD2', 'score': 10.99}, {'connected_gene': 'CDH6', 'score': 4.88}, {'connected_gene': 'ENSG00000248878', 'score': 0.44}, {'connected_gene': 'ENSG00000249114', 'score': 0.44}]
chr5 GH05I031810 31810878 31811819 0.81 [{'connected_gene': 'DROSHA', 'score': 14.31}, {'connected_gene': 'PDZD2', 'score': 5.66}, {'connected_gene': 'RNU6-358P', 'score': 0.44}, {'connected_gene': 'GC05M031821', 'score': 0.44}, {'connected_gene': 'ENSG00000249688', 'score': 0.22}]
chr5 GH05I031978 31978819 31982331 0.64 [{'connected_gene': 'DROSHA', 'score': 22.37}, {'connected_gene': 'PDZD2', 'score': 10.17}, {'connected_gene': 'MIR4279', 'score': 0.26}, {'connected_gene': 'LOC105374711', 'score': 0.13}]
chr5 GH05I031641 31641001 31643751 0.43 [{'connected_gene': 'DROSHA', 'score': 4.87}, {'connected_gene': 'PDZD2', 'score': 0.77}, {'connected_gene': 'ENSG00000248624', 'score': 0.39}]
chr5 GH05I032193 32193201 32194251 1.19 [{'connected_gene': 'DROSHA', 'score': 15.26}, {'connected_gene': 'GC05P032208', 'score': 0.39}, {'connected_gene': 'ENSG00000272086', 'score': 0.37}, {'connected_gene': 'GC05M032181', 'score': 0.18}]
chr5 GH05I031426 31426714 31427814 0.2 [{'connected_gene': 'DROSHA', 'score': 4.71}, {'connected_gene': 'GC05P031506', 'score': 0.18}, {'connected_gene': 'ENSG00000254138', 'score': 0.1}]
chr5 GH05I031453 31453674 31453823 0.38 [{'connected_gene': 'DROSHA', 'score': 9.4}, {'connected_gene': 'GC05P031506', 'score': 0.23}, {'connected_gene': 'ENSG00000254138', 'score': 0.09}]
chr5 GH05I031408 31408205 31409683 0.64 [{'connected_gene': 'DROSHA', 'score': 5.04}, {'connected_gene': 'GC05P031506', 'score': 0.15}, {'connected_gene': 'ENSG00000254138', 'score': 0.11}]
chr5 GH05I032530 32530973 32533125 1.2 [{'connected_gene': 'SUB1', 'score': 550.77}, {'connected_gene': 'DROSHA', 'score': 29.15}, {'connected_gene': 'MTMR12', 'score': 21.67}, {'connected_gene': 'GC05M032623', 'score': 0.16}]
chr5 GH05I032170 32170415 32175599 2.3 [{'connected_gene': 'ENSG00000272086', 'score': 550.77}, {'connected_gene': 'GOLPH3', 'score': 550.77}, {'connected_gene': 'GC05P032175', 'score': 550.77}, {'connected_gene': 'MTMR12', 'score': 24.16}, {'connected_gene': 'DROSHA', 'score': 11.4}, {'connected_gene': 'RPS8P8', 'score': 9.88}, {'connected_gene': 'RPL27P10', 'score': 8.13}, {'connected_gene': 'GC05P032142', 'score': 0.29}]
chr5 GH05I032217 32217801 32218400 0.93 [{'connected_gene': 'PIR52245', 'score': 550.77}, {'connected_gene': 'DROSHA', 'score': 80.37}, {'connected_gene': 'GOLPH3', 'score': 12.51}, {'connected_gene': 'ZFR', 'score': 10.94}, {'connected_gene': 'MTMR12', 'score': 10.21}, {'connected_gene': 'RPL27P10', 'score': 0.77}, {'connected_gene': 'GC05M032181', 'score': 0.23}]
chr5 GH05I031923 31923245 31925351 0.38 [{'connected_gene': 'ENSG00000249774', 'score': 550.77}, {'connected_gene': 'DROSHA', 'score': 20.33}, {'connected_gene': 'PDZD2', 'score': 10.47}, {'connected_gene': 'MIR4279', 'score': 0.39}]
chr5 GH05I031412 31412592 31412945 0.38 [{'connected_gene': 'GC05P031506', 'score': 0.16}, {'connected_gene': 'DROSHA', 'score': 0.13}, {'connected_gene': 'ENSG00000254138', 'score': 0.11}]

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