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
ENST00000295373 [[39024870, 39025584], [39029856, 39030057], [39033700, 39033835], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544], [39081195, 39081320], [39082198, 39082394], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090661], [39095323, 39095553], [39102928, 39103049]] [[39025440, 39025584], [39029856, 39030057], [39033700, 39033835], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544], [39081195, 39081320], [39082198, 39082394], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090661], [39095323, 39095547]]
ENST00000452978 [[39024877, 39025584], [39029856, 39030057], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544]] [[39025440, 39025584], [39029856, 39030057], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544]]
ENST00000460193 [[39025109, 39025584], [39029856, 39030057], [39033700, 39033835], [39040962, 39041037], [39042662, 39042797], [39046014, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544], [39081195, 39082394], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090661], [39095323, 39095553], [39102928, 39103066]] None
ENST00000457308 [[39025421, 39025584], [39029856, 39030057], [39033700, 39033835], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544], [39081195, 39081320], [39082198, 39082417], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090661], [39094250, 39094380]] [[39082401, 39082417], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090579]]
ENST00000477981 [[39025493, 39025584], [39029856, 39030165]] None
ENST00000497514 [[39033545, 39033835], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102]] None
ENST00000442331 [[39043016, 39043327], [39046018, 39046102], [39046190, 39046250]] [[39043315, 39043327], [39046018, 39046102], [39046190, 39046250]]
ENST00000474104 [[39080186, 39082394], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090661], [39095323, 39095553], [39102928, 39103021]] None
ENST00000492042 [[39083504, 39083603], [39083804, 39084260]] None
ENST00000479345 [[39083936, 39084286], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090661], [39094250, 39094372]] None
ENST00000417233 [[39088927, 39088979], [39089286, 39089475], [39090502, 39090661], [39102928, 39103075]] [[39088927, 39088979], [39089286, 39089475], [39090502, 39090579]]
NM_198963 [[39024870, 39025584], [39029856, 39030057], [39033700, 39033835], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544], [39081195, 39081320], [39082198, 39082394], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090661], [39095323, 39095553], [39102928, 39103075]] [[39025440, 39025584], [39029856, 39030057], [39033700, 39033835], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544], [39081195, 39081320], [39082198, 39082394], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090661], [39095323, 39095547]]
NM_001329963 [[39024870, 39025584], [39029856, 39030057], [39033700, 39033835], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544], [39081195, 39081320], [39082198, 39082394], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090661], [39095456, 39095553], [39102928, 39103075]] [[39025440, 39025584], [39029856, 39030057], [39033700, 39033835], [39040962, 39041037], [39042662, 39042797], [39046018, 39046102], [39046190, 39046286], [39050134, 39050411], [39052988, 39053189], [39053657, 39053831], [39055481, 39055578], [39064972, 39065089], [39070146, 39070352], [39074160, 39074215], [39075410, 39075544], [39081195, 39081320], [39082198, 39082394], [39083481, 39083603], [39085802, 39085978], [39088140, 39088979], [39089286, 39089475], [39090502, 39090579]]
Promoter
Chrom Start End Description
chr2 39094324 39094333 CAGE_peak_7_at_DHX57_5end
chr2 39094344 39094367 CAGE_peak_4_at_DHX57_5end
chr2 39094370 39094379 CAGE_peak_6_at_DHX57_5end
chr2 39103014 39103084 CAGE_peak_1_at_DHX57_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I038598 38598144 38604383 2.31 [{'connected_gene': 'HNRNPLL', 'score': 550.77}, {'connected_gene': 'ENSG00000235586', 'score': 550.77}, {'connected_gene': 'PIR45803', 'score': 550.77}, {'connected_gene': 'SRSF7', 'score': 13.62}, {'connected_gene': 'DHX57', 'score': 12.13}, {'connected_gene': 'LOC101929596', 'score': 4.59}, {'connected_gene': 'GALM', 'score': 4.35}, {'connected_gene': 'GC02M038560', 'score': 0.28}]
chr2 GH02I038874 38874931 38876801 2.02 [{'connected_gene': 'DHX57', 'score': 561.31}, {'connected_gene': 'MORN2', 'score': 550.77}, {'connected_gene': 'ENSG00000225284', 'score': 0.39}]
chr2 GH02I038827 38827275 38828447 1.07 [{'connected_gene': 'DHX57', 'score': 7.57}, {'connected_gene': 'ASS1P2', 'score': 6.67}, {'connected_gene': 'LOC105374470', 'score': 0.44}]
chr2 GH02I038806 38806119 38806800 0.51 [{'connected_gene': 'DHX57', 'score': 7.22}, {'connected_gene': 'ASS1P2', 'score': 0.44}, {'connected_gene': 'LOC100529111', 'score': 0.28}]
chr2 GH02I038907 38907132 38909218 0.86 [{'connected_gene': 'DHX57', 'score': 20.91}, {'connected_gene': 'RNU6-851P', 'score': 12.13}, {'connected_gene': 'MORN2', 'score': 11.59}, {'connected_gene': 'ENSG00000225284', 'score': 11.24}, {'connected_gene': 'GC02M038898', 'score': 0.44}, {'connected_gene': 'ARHGEF33', 'score': 0.37}, {'connected_gene': 'GC02P038937', 'score': 0.31}]
chr2 GH02I039133 39133852 39134900 0.83 [{'connected_gene': 'DHX57', 'score': 5.92}, {'connected_gene': 'GC02M039129', 'score': 0.44}, {'connected_gene': 'ENSG00000202309', 'score': 0.44}, {'connected_gene': 'GC02P039110', 'score': 0.34}, {'connected_gene': 'GC02M039185', 'score': 0.23}]
chr2 GH02I038997 38997163 38998330 0.82 [{'connected_gene': 'MORN2', 'score': 10.02}, {'connected_gene': 'DHX57', 'score': 10.02}, {'connected_gene': 'SOS1', 'score': 4.91}, {'connected_gene': 'SOS1-IT1', 'score': 0.77}, {'connected_gene': 'GC02M039015', 'score': 0.37}]
chr2 GH02I038945 38945240 38946260 0.89 [{'connected_gene': 'MORN2', 'score': 10.87}, {'connected_gene': 'DHX57', 'score': 10.87}, {'connected_gene': 'RN7SL96P', 'score': 0.44}, {'connected_gene': 'LOC105374471', 'score': 0.44}, {'connected_gene': 'ARHGEF33', 'score': 0.22}]
chr2 GH02I038908 38906559 38906743 0.2 [{'connected_gene': 'MORN2', 'score': 11.41}, {'connected_gene': 'DHX57', 'score': 11.41}, {'connected_gene': 'GC02M038898', 'score': 0.44}, {'connected_gene': 'ARHGEF33', 'score': 0.37}, {'connected_gene': 'GC02P038937', 'score': 0.29}]
chr2 GH02I038906 38906280 38906429 0.2 [{'connected_gene': 'MORN2', 'score': 11.41}, {'connected_gene': 'DHX57', 'score': 11.41}, {'connected_gene': 'GC02M038898', 'score': 0.44}, {'connected_gene': 'ARHGEF33', 'score': 0.37}, {'connected_gene': 'GC02P038937', 'score': 0.29}]
chr2 GH02I039434 39434800 39440424 2.35 [{'connected_gene': 'LOC728730', 'score': 558.68}, {'connected_gene': 'MAP4K3', 'score': 550.77}, {'connected_gene': 'DHX57', 'score': 5.39}, {'connected_gene': 'PIR40288', 'score': 0.11}]
chr2 GH02I039503 39503271 39507325 1.6 [{'connected_gene': 'LOC728730', 'score': 9.78}, {'connected_gene': 'TMEM178A', 'score': 4.7}, {'connected_gene': 'MAP4K3', 'score': 4.58}, {'connected_gene': 'DHX57', 'score': 4.5}, {'connected_gene': 'PIR40288', 'score': 0.18}]
chr2 GH02I039093 39093601 39093800 0.49 [{'connected_gene': 'SOS1', 'score': 11.82}, {'connected_gene': 'ENSG00000202309', 'score': 11.8}, {'connected_gene': 'MORN2', 'score': 9.24}, {'connected_gene': 'DHX57', 'score': 9.24}, {'connected_gene': 'HSPE1P13', 'score': 0.77}, {'connected_gene': 'GC02M039088', 'score': 0.44}, {'connected_gene': 'RNU6-198P', 'score': 0.39}]
chr2 GH02I039094 39094768 39095662 0.89 [{'connected_gene': 'SOS1', 'score': 11.84}, {'connected_gene': 'ENSG00000202309', 'score': 11.82}, {'connected_gene': 'MORN2', 'score': 9.24}, {'connected_gene': 'DHX57', 'score': 9.24}, {'connected_gene': 'HSPE1P13', 'score': 0.77}, {'connected_gene': 'GC02M039088', 'score': 0.77}, {'connected_gene': 'RNU6-198P', 'score': 0.39}]
chr2 GH02I039118 39118381 39125577 2.33 [{'connected_gene': 'SOS1', 'score': 565.78}, {'connected_gene': 'SRSF7', 'score': 13.57}, {'connected_gene': 'DHX57', 'score': 6.71}, {'connected_gene': 'GC02P039110', 'score': 0.39}]
chr2 GH02I039215 39215850 39218688 1.32 [{'connected_gene': 'SOS1', 'score': 44.03}, {'connected_gene': 'SRSF7', 'score': 15.29}, {'connected_gene': 'THUMPD2', 'score': 13.81}, {'connected_gene': 'ARHGEF33', 'score': 13.67}, {'connected_gene': 'ENSG00000202309', 'score': 12.02}, {'connected_gene': 'ENSG00000252473', 'score': 10.57}, {'connected_gene': 'DHX57', 'score': 9.72}, {'connected_gene': 'MORN2', 'score': 9.72}, {'connected_gene': 'CDKL4', 'score': 0.31}, {'connected_gene': 'GC02M039185', 'score': 0.29}]
chr2 GH02I038749 38749199 38752720 2.34 [{'connected_gene': 'SRSF7', 'score': 626.52}, {'connected_gene': 'GEMIN6', 'score': 550.77}, {'connected_gene': 'SOS1', 'score': 22.63}, {'connected_gene': 'DHX57', 'score': 13.9}, {'connected_gene': 'ARHGEF33', 'score': 12.1}, {'connected_gene': 'GALM', 'score': 7.48}, {'connected_gene': 'ASS1P2', 'score': 6.64}, {'connected_gene': 'LOC728730', 'score': 4.33}, {'connected_gene': 'ENSG00000232518', 'score': 0.18}]
chr2 GH02I038946 38946916 38948001 1.05 [{'connected_gene': 'SRSF7', 'score': 13.36}, {'connected_gene': 'MORN2', 'score': 10.87}, {'connected_gene': 'DHX57', 'score': 10.87}, {'connected_gene': 'ENSG00000225284', 'score': 10.8}, {'connected_gene': 'LOC105374471', 'score': 0.44}, {'connected_gene': 'RN7SL96P', 'score': 0.39}, {'connected_gene': 'ARHGEF33', 'score': 0.22}]
chr2 GH02I038540 38540737 38544143 1.47 [{'connected_gene': 'SRSF7', 'score': 19.17}, {'connected_gene': 'SOS1', 'score': 17.5}, {'connected_gene': 'DHX57', 'score': 13.78}, {'connected_gene': 'ENSG00000235586', 'score': 11.52}, {'connected_gene': 'HNRNPLL', 'score': 11.5}, {'connected_gene': 'ENSG00000232518', 'score': 10.88}, {'connected_gene': 'GALM', 'score': 10.88}, {'connected_gene': 'MAP4K3', 'score': 10.63}, {'connected_gene': 'ENSG00000252473', 'score': 9.8}, {'connected_gene': 'CYP1B1', 'score': 9.69}, {'connected_gene': 'MORN2', 'score': 9.56}, {'connected_gene': 'LOC101929596', 'score': 4.89}, {'connected_gene': 'ENSG00000271443', 'score': 0.44}, {'connected_gene': 'GC02M038560', 'score': 0.34}]
chr2 GH02I038405 38405523 38408091 1.1 [{'connected_gene': 'ATL2', 'score': 20.26}, {'connected_gene': 'DHX57', 'score': 10.14}, {'connected_gene': 'HNRNPLL', 'score': 9.71}, {'connected_gene': 'LOC105374468', 'score': 0.77}, {'connected_gene': 'GC02P038403', 'score': 0.77}, {'connected_gene': 'GC02M038108', 'score': 0.18}, {'connected_gene': 'LOC101929596', 'score': 0.14}]
chr2 GH02I038432 38432441 38433940 1.36 [{'connected_gene': 'ATL2', 'score': 22.23}, {'connected_gene': 'LOC101929596', 'score': 17.63}, {'connected_gene': 'SOS1', 'score': 11.63}, {'connected_gene': 'GALM', 'score': 10.45}, {'connected_gene': 'ENSG00000232518', 'score': 10.45}, {'connected_gene': 'DHX57', 'score': 10.41}, {'connected_gene': 'LINC01883', 'score': 0.77}, {'connected_gene': 'RPLP0P6', 'score': 0.25}, {'connected_gene': 'GC02M038108', 'score': 0.22}]
chr2 GH02I038754 38754001 38755200 0.51 [{'connected_gene': 'ASS1P2', 'score': 6.89}, {'connected_gene': 'GALM', 'score': 6.36}, {'connected_gene': 'DHX57', 'score': 5.21}, {'connected_gene': 'ENSG00000229160', 'score': 4.48}, {'connected_gene': 'GEMIN6', 'score': 0.77}, {'connected_gene': 'TTC39DP', 'score': 0.44}]
chr2 GH02I038831 38831401 38832001 0.2 [{'connected_gene': 'ASS1P2', 'score': 6.65}, {'connected_gene': 'LOC105374470', 'score': 0.77}, {'connected_gene': 'DHX57', 'score': 0.26}]
chr2 GH02I038959 38959861 38961201 0.96 [{'connected_gene': 'LOC375196', 'score': 550.77}, {'connected_gene': 'DHX57', 'score': 21.8}, {'connected_gene': 'ASS1P2', 'score': 13.04}, {'connected_gene': 'MORN2', 'score': 10.94}, {'connected_gene': 'THUMPD2', 'score': 10.52}, {'connected_gene': 'SRSF7', 'score': 10.4}, {'connected_gene': 'SOS1', 'score': 4.65}, {'connected_gene': 'SOS1-IT1', 'score': 0.29}, {'connected_gene': 'ARHGEF33', 'score': 0.19}]
chr2 GH02I039114 39114920 39116905 0.56 [{'connected_gene': 'CDKL4', 'score': 11.26}, {'connected_gene': 'DHX57', 'score': 4.83}, {'connected_gene': 'GC02P039110', 'score': 0.44}, {'connected_gene': 'SOS1', 'score': 0.44}]
chr2 GH02I038070 38070412 38078033 2.37 [{'connected_gene': 'CYP1B1', 'score': 561.74}, {'connected_gene': 'CYP1B1-AS1', 'score': 555.8}, {'connected_gene': 'ENSG00000272054', 'score': 40.2}, {'connected_gene': 'SRSF7', 'score': 36.48}, {'connected_gene': 'DHX57', 'score': 18.91}, {'connected_gene': 'ASS1P2', 'score': 12.95}, {'connected_gene': 'CEBPZ', 'score': 11.55}, {'connected_gene': 'HEATR5B', 'score': 11.55}, {'connected_gene': 'RMDN2', 'score': 7.76}]
chr2 GH02I037921 37921324 37926857 2.07 [{'connected_gene': 'RMDN2', 'score': 565.76}, {'connected_gene': 'DHX57', 'score': 10.78}, {'connected_gene': 'CYP1B1', 'score': 10.51}, {'connected_gene': 'GC02P037921', 'score': 0.77}, {'connected_gene': 'GC02P037956', 'score': 0.29}]
chr2 GH02I039082 39082807 39084750 0.31 [{'connected_gene': 'RNU6-198P', 'score': 550.77}, {'connected_gene': 'GC02P039083', 'score': 550.77}, {'connected_gene': 'DHX57', 'score': 6.41}, {'connected_gene': 'HSPE1P13', 'score': 0.39}, {'connected_gene': 'SOS1', 'score': 0.26}]
chr2 GH02I038835 38835346 38837456 1.11 [{'connected_gene': 'LOC105374470', 'score': 550.77}, {'connected_gene': 'DHX57', 'score': 7.62}, {'connected_gene': 'GC02P038853', 'score': 0.37}]
chr2 GH02I038832 38832109 38832462 0.31 [{'connected_gene': 'LOC105374470', 'score': 0.77}, {'connected_gene': 'ASS1P2', 'score': 0.34}, {'connected_gene': 'DHX57', 'score': 0.26}]
chr2 GH02I038238 38238956 38240123 0.72 [{'connected_gene': 'LOC102723739', 'score': 550.77}, {'connected_gene': 'SRSF7', 'score': 72.9}, {'connected_gene': 'SOS1', 'score': 41.79}, {'connected_gene': 'DHX57', 'score': 40.61}, {'connected_gene': 'ARHGEF33', 'score': 25.09}, {'connected_gene': 'ASS1P2', 'score': 21.68}, {'connected_gene': 'HNRNPLL', 'score': 11.19}, {'connected_gene': 'ENSG00000229160', 'score': 7.04}, {'connected_gene': 'ATL2', 'score': 4.96}, {'connected_gene': 'GC02P038231', 'score': 0.44}, {'connected_gene': 'GC02M038108', 'score': 0.07}]
chr2 GH02I038866 38866476 38867907 0.38 [{'connected_gene': 'ARHGEF33', 'score': 6.64}, {'connected_gene': 'ENSG00000225284', 'score': 0.44}, {'connected_gene': 'DHX57', 'score': 0.44}]
chr2 GH02I038856 38856319 38856448 0.52 [{'connected_gene': 'GC02P038853', 'score': 0.77}, {'connected_gene': 'ENSG00000225284', 'score': 0.44}, {'connected_gene': 'DHX57', 'score': 0.37}]
chr2 GH02I038796 38796959 38798380 0.68 [{'connected_gene': 'ENSG00000225284', 'score': 10.62}, {'connected_gene': 'MORN2', 'score': 10.23}, {'connected_gene': 'DHX57', 'score': 10.23}, {'connected_gene': 'ASS1P2', 'score': 0.39}, {'connected_gene': 'LOC100529111', 'score': 0.31}]
chr2 GH02I038852 38852147 38852356 0.27 [{'connected_gene': 'GC02P038853', 'score': 550.77}, {'connected_gene': 'MORN2', 'score': 11.68}, {'connected_gene': 'DHX57', 'score': 11.68}, {'connected_gene': 'ARHGEF33', 'score': 1.86}, {'connected_gene': 'SRSF7', 'score': 1.35}, {'connected_gene': 'LOC105374470', 'score': 0.37}]
chr2 GH02I038839 38839601 38839800 0.2 [{'connected_gene': 'ENSG00000225284', 'score': 12.14}, {'connected_gene': 'SRSF7', 'score': 11.37}, {'connected_gene': 'GEMIN6', 'score': 11.37}, {'connected_gene': 'MORN2', 'score': 11.31}, {'connected_gene': 'DHX57', 'score': 11.31}, {'connected_gene': 'LOC105374470', 'score': 0.77}, {'connected_gene': 'GC02P038853', 'score': 0.39}]
chr2 GH02I038840 38840670 38840872 0.22 [{'connected_gene': 'ENSG00000225284', 'score': 12.14}, {'connected_gene': 'SRSF7', 'score': 11.37}, {'connected_gene': 'GEMIN6', 'score': 11.37}, {'connected_gene': 'MORN2', 'score': 11.31}, {'connected_gene': 'DHX57', 'score': 11.31}, {'connected_gene': 'LOC105374470', 'score': 0.77}, {'connected_gene': 'GC02P038853', 'score': 0.39}]
chr2 GH02I038095 38095012 38099600 1.61 [{'connected_gene': 'ENSG00000272054', 'score': 20.44}, {'connected_gene': 'CYP1B1', 'score': 17.5}, {'connected_gene': 'CYP1B1-AS1', 'score': 16.68}, {'connected_gene': 'SRSF7', 'score': 15.28}, {'connected_gene': 'DHX57', 'score': 14.52}, {'connected_gene': 'ARHGEF33', 'score': 13.65}, {'connected_gene': 'RMDN2-AS1', 'score': 11.68}, {'connected_gene': 'HNRNPLL', 'score': 11.17}, {'connected_gene': 'CEBPZ', 'score': 10.23}, {'connected_gene': 'CDC42EP3', 'score': 2.42}]

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