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
ENST00000392870 [[120967100, 120967481], [121086027, 121086123], [121140326, 121140439], [121156206, 121156284], [121182677, 121182778], [121184504, 121184597], [121189886, 121189950], [121190898, 121191039], [121196162, 121196353], [121199242, 121199280], [121201510, 121201600], [121203055, 121203264], [121207634, 121207772], [121212182, 121212320], [121212656, 121212788], [121214480, 121215131]] [[120967429, 120967481], [121086027, 121086123], [121140326, 121140439], [121156206, 121156284], [121182677, 121182778], [121184504, 121184597], [121189886, 121189950], [121190898, 121191039], [121196162, 121196353], [121199242, 121199280], [121201510, 121201600], [121203055, 121203264], [121207634, 121207772], [121212182, 121212320], [121212656, 121212788], [121214480, 121214579]]
ENST00000369108 [[121137948, 121138020], [121140326, 121140439], [121156206, 121156284], [121182677, 121182778], [121184504, 121184597], [121189886, 121189950], [121190898, 121191039], [121196162, 121196353], [121199242, 121199280], [121201510, 121201600], [121203055, 121203264], [121207634, 121207772], [121212182, 121212320], [121212656, 121212788], [121214480, 121214630]] [[121156260, 121156284], [121182677, 121182778], [121184504, 121184597], [121189886, 121189950], [121190898, 121191039], [121196162, 121196353], [121199242, 121199280], [121201510, 121201600], [121203055, 121203264], [121207634, 121207772], [121212182, 121212320], [121212656, 121212788], [121214480, 121214579]]
ENST00000473264 [[121211959, 121212320], [121212656, 121212751]] None
NM_005308 [[120967196, 120967481], [121086027, 121086123], [121140326, 121140439], [121156206, 121156284], [121182677, 121182778], [121184504, 121184597], [121189886, 121189950], [121190898, 121191039], [121196162, 121196353], [121199242, 121199280], [121201510, 121201600], [121203055, 121203264], [121207634, 121207772], [121212182, 121212320], [121212656, 121212788], [121214480, 121215131]] [[120967429, 120967481], [121086027, 121086123], [121140326, 121140439], [121156206, 121156284], [121182677, 121182778], [121184504, 121184597], [121189886, 121189950], [121190898, 121191039], [121196162, 121196353], [121199242, 121199280], [121201510, 121201600], [121203055, 121203264], [121207634, 121207772], [121212182, 121212320], [121212656, 121212788], [121214480, 121214579]]
Promoter
Chrom Start End Description
chr10 120967072 120967088 CAGE_peak_3_at_GRK5_5end
chr10 120967120 120967134 CAGE_peak_1_at_GRK5_5end
chr10 120967193 120967217 CAGE_peak_2_at_GRK5_5end
chr10 120967226 120967260 CAGE_peak_4_at_GRK5_5end
chr10 120967261 120967288 CAGE_peak_6_at_GRK5_5end
chr10 120967923 120967936 CAGE_peak_9_at_GRK5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I119650 119650584 119660678 2.72 [{'connected_gene': 'BAG3', 'score': 568.34}, {'connected_gene': 'TIAL1', 'score': 21.86}, {'connected_gene': 'SEC23IP', 'score': 20.53}, {'connected_gene': 'INPP5F', 'score': 11.7}, {'connected_gene': 'MCMBP', 'score': 10.82}, {'connected_gene': 'GRK5', 'score': 1.18}, {'connected_gene': 'TXNP1', 'score': 0.31}]
chr10 GH10I119400 119400000 119403183 1.5 [{'connected_gene': 'EIF3A', 'score': 1.28}, {'connected_gene': 'GC10P119418', 'score': 0.37}, {'connected_gene': 'MIR4681', 'score': 0.34}, {'connected_gene': 'GRK5', 'score': 0.08}]
chr10 GH10I119340 119340675 119343038 1.28 [{'connected_gene': 'RPL17P36', 'score': 5.08}, {'connected_gene': 'LOC105378511', 'score': 0.44}, {'connected_gene': 'MIR4681', 'score': 0.28}, {'connected_gene': 'GRK5', 'score': 0.12}]
chr10 GH10I119279 119279226 119280589 0.62 [{'connected_gene': 'TIAL1', 'score': 17.39}, {'connected_gene': 'SEC23IP', 'score': 15.9}, {'connected_gene': 'MCMBP', 'score': 12.98}, {'connected_gene': 'RPL17P36', 'score': 10.76}, {'connected_gene': 'GC10P119246', 'score': 0.29}, {'connected_gene': 'LOC105378511', 'score': 0.22}, {'connected_gene': 'GRK5', 'score': 0.19}]
chr10 GH10I119219 119219503 119224252 1.21 [{'connected_gene': 'TIAL1', 'score': 31.78}, {'connected_gene': 'SEC23IP', 'score': 27.72}, {'connected_gene': 'SFXN4', 'score': 24.34}, {'connected_gene': 'RPL17P36', 'score': 19.04}, {'connected_gene': 'MCMBP', 'score': 14.29}, {'connected_gene': 'RN7SL749P', 'score': 0.44}, {'connected_gene': 'GRK5', 'score': 0.39}, {'connected_gene': 'GC10P119246', 'score': 0.34}]
chr10 GH10I119458 119458110 119459657 0.31 [{'connected_gene': 'RGS10', 'score': 12.02}, {'connected_gene': 'TIAL1', 'score': 10.64}, {'connected_gene': 'GC10P119418', 'score': 0.26}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10 GH10I119267 119267339 119276144 1.74 [{'connected_gene': 'RGS10', 'score': 10.87}, {'connected_gene': 'GRK5', 'score': 5.82}, {'connected_gene': 'SFXN4', 'score': 5.36}, {'connected_gene': 'EIF3A', 'score': 1.24}, {'connected_gene': 'GC10P119246', 'score': 0.31}, {'connected_gene': 'LOC105378511', 'score': 0.21}]
chr10 GH10I119264 119264200 119264800 0.58 [{'connected_gene': 'RGS10', 'score': 10.87}, {'connected_gene': 'GC10P119246', 'score': 0.37}, {'connected_gene': 'GRK5', 'score': 0.22}, {'connected_gene': 'LOC105378511', 'score': 0.19}]
chr10 GH10I119430 119430279 119431914 0.49 [{'connected_gene': 'RGS10', 'score': 11.63}, {'connected_gene': 'GC10P119418', 'score': 0.39}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10 GH10I119374 119374469 119376547 0.92 [{'connected_gene': 'RGS10', 'score': 10.93}, {'connected_gene': 'MIR4681', 'score': 0.77}, {'connected_gene': 'LOC105378511', 'score': 0.28}, {'connected_gene': 'GRK5', 'score': 0.1}]
chr10 GH10I119449 119449673 119450951 0.69 [{'connected_gene': 'GRK5', 'score': 4.34}, {'connected_gene': 'GC10P119418', 'score': 0.29}, {'connected_gene': 'RGS10', 'score': 0.16}]
chr10 GH10I119444 119444949 119445929 0.94 [{'connected_gene': 'GRK5', 'score': 4.56}, {'connected_gene': 'GC10P119418', 'score': 0.31}, {'connected_gene': 'RGS10', 'score': 0.15}]
chr10 GH10I119205 119205743 119214399 2.65 [{'connected_gene': 'GRK5', 'score': 558.0}, {'connected_gene': 'SFXN4', 'score': 36.99}, {'connected_gene': 'PHACTR2P1', 'score': 10.05}, {'connected_gene': 'PRDX3', 'score': 6.79}, {'connected_gene': 'EIF3A', 'score': 1.56}, {'connected_gene': 'GRK5-IT1', 'score': 0.77}, {'connected_gene': 'RN7SL749P', 'score': 0.77}]
chr10 GH10I119368 119368451 119374128 1.33 [{'connected_gene': 'GRK5', 'score': 12.02}, {'connected_gene': 'PRDX3', 'score': 4.46}, {'connected_gene': 'MIR4681', 'score': 0.44}, {'connected_gene': 'LOC105378511', 'score': 0.29}]
chr10 GH10I119352 119352625 119353930 0.43 [{'connected_gene': 'GRK5', 'score': 6.34}, {'connected_gene': 'LOC105378511', 'score': 0.37}, {'connected_gene': 'MIR4681', 'score': 0.34}]
chr10 GH10I119348 119348664 119351603 1.03 [{'connected_gene': 'GRK5', 'score': 6.6}, {'connected_gene': 'LOC105378511', 'score': 0.39}, {'connected_gene': 'MIR4681', 'score': 0.31}]
chr10 GH10I119300 119300260 119308064 1.7 [{'connected_gene': 'GRK5', 'score': 4.91}, {'connected_gene': 'LOC105378511', 'score': 0.29}, {'connected_gene': 'GC10P119246', 'score': 0.22}]
chr10 GH10I119283 119283272 119286712 1.25 [{'connected_gene': 'GRK5', 'score': 1.89}, {'connected_gene': 'GC10P119246', 'score': 0.28}, {'connected_gene': 'LOC105378511', 'score': 0.23}]
chr10 GH10I119309 119308872 119310125 1.06 [{'connected_gene': 'GRK5', 'score': 5.13}, {'connected_gene': 'LOC105378511', 'score': 0.31}, {'connected_gene': 'GC10P119246', 'score': 0.21}]
chr10 GH10I119403 119403802 119416580 1.52 [{'connected_gene': 'GRK5', 'score': 16.46}, {'connected_gene': 'GRK5-IT1', 'score': 12.38}, {'connected_gene': 'RGS10', 'score': 10.86}, {'connected_gene': 'GC10P119418', 'score': 0.44}, {'connected_gene': 'MIR4681', 'score': 0.29}]
chr10 GH10I119360 119360200 119366653 1.22 [{'connected_gene': 'GRK5', 'score': 10.8}, {'connected_gene': 'MIR4681', 'score': 0.39}, {'connected_gene': 'LOC105378511', 'score': 0.31}]
chr10 GH10I119394 119394002 119397331 1.05 [{'connected_gene': 'GRK5', 'score': 6.8}, {'connected_gene': 'MIR4681', 'score': 0.37}, {'connected_gene': 'GC10P119418', 'score': 0.34}]
chr10 GH10I119389 119389849 119389998 0.4 [{'connected_gene': 'GRK5', 'score': 4.55}, {'connected_gene': 'MIR4681', 'score': 0.39}, {'connected_gene': 'GC10P119418', 'score': 0.31}]
chr10 GH10I119199 119199364 119199841 0.92 [{'connected_gene': 'GRK5', 'score': 0.44}, {'connected_gene': 'GC10M119191', 'score': 0.44}]
chr10 GH10I119198 119198692 119198698 0.46 [{'connected_gene': 'GRK5', 'score': 0.44}, {'connected_gene': 'GC10M119191', 'score': 0.44}]
chr10 GH10I119201 119198549 119198599 0.46 [{'connected_gene': 'GRK5', 'score': 0.44}, {'connected_gene': 'GC10M119191', 'score': 0.44}]
chr10 GH10I119202 119202782 119203839 0.76 [{'connected_gene': 'SFXN4', 'score': 16.25}, {'connected_gene': 'GRK5', 'score': 0.77}, {'connected_gene': 'GC10M119191', 'score': 0.39}]
chr10 GH10I119218 119218029 119218743 0.8 [{'connected_gene': 'SFXN4', 'score': 25.06}, {'connected_gene': 'RN7SL749P', 'score': 0.44}, {'connected_gene': 'GRK5', 'score': 0.39}, {'connected_gene': 'GC10P119246', 'score': 0.31}]
chr10 GH10I119280 119280801 119282542 1.12 [{'connected_gene': 'SFXN4', 'score': 4.69}, {'connected_gene': 'GC10P119246', 'score': 0.28}, {'connected_gene': 'LOC105378511', 'score': 0.23}, {'connected_gene': 'GRK5', 'score': 0.19}]
chr10 GH10I119287 119287617 119291600 1.16 [{'connected_gene': 'SFXN4', 'score': 4.58}, {'connected_gene': 'GC10P119246', 'score': 0.26}, {'connected_gene': 'LOC105378511', 'score': 0.25}, {'connected_gene': 'GRK5', 'score': 0.18}]
chr10 GH10I119277 119277914 119278990 0.31 [{'connected_gene': 'SFXN4', 'score': 4.29}, {'connected_gene': 'GC10P119246', 'score': 0.29}, {'connected_gene': 'LOC105378511', 'score': 0.22}, {'connected_gene': 'GRK5', 'score': 0.19}]
chr10 GH10I119313 119313373 119320166 1.72 [{'connected_gene': 'SEC23IP', 'score': 27.76}, {'connected_gene': 'TIAL1', 'score': 21.84}, {'connected_gene': 'MCMBP', 'score': 14.29}, {'connected_gene': 'RPL17P36', 'score': 10.05}, {'connected_gene': 'LOC105378511', 'score': 0.37}, {'connected_gene': 'GC10P119246', 'score': 0.19}, {'connected_gene': 'GRK5', 'score': 0.14}]
chr10 GH10I119312 119312929 119313078 0.9 [{'connected_gene': 'SEC23IP', 'score': 11.18}, {'connected_gene': 'LOC105378511', 'score': 0.34}, {'connected_gene': 'GC10P119246', 'score': 0.2}, {'connected_gene': 'GRK5', 'score': 0.14}]
chr10 GH10I119200 119198049 119198238 0.65 [{'connected_gene': 'PRDX3', 'score': 7.61}, {'connected_gene': 'GRK5', 'score': 0.44}, {'connected_gene': 'GC10M119191', 'score': 0.44}]
chr10 GH10I119217 119217469 119217618 0.51 [{'connected_gene': 'RN7SL749P', 'score': 0.77}, {'connected_gene': 'GRK5', 'score': 0.44}, {'connected_gene': 'GC10P119246', 'score': 0.31}]
chr10 GH10I119224 119224601 119224800 0.66 [{'connected_gene': 'RN7SL749P', 'score': 0.39}, {'connected_gene': 'GRK5', 'score': 0.37}, {'connected_gene': 'GC10P119246', 'score': 0.34}]
chr10 GH10I119225 119225362 119225697 0.31 [{'connected_gene': 'RN7SL749P', 'score': 0.39}, {'connected_gene': 'GRK5', 'score': 0.37}, {'connected_gene': 'GC10P119246', 'score': 0.34}]
chr10 GH10I119333 119333424 119338887 1.13 [{'connected_gene': 'LOC105378511', 'score': 550.77}, {'connected_gene': 'TIAL1', 'score': 17.4}, {'connected_gene': 'SEC23IP', 'score': 15.9}, {'connected_gene': 'RPL17P36', 'score': 14.56}, {'connected_gene': 'MCMBP', 'score': 12.98}, {'connected_gene': 'GC10P119246', 'score': 0.17}, {'connected_gene': 'GRK5', 'score': 0.13}]
chr10 GH10I119298 119298342 119299271 0.43 [{'connected_gene': 'LOC105378511', 'score': 0.28}, {'connected_gene': 'GC10P119246', 'score': 0.23}, {'connected_gene': 'GRK5', 'score': 0.16}]
chr10 GH10I119308 119308650 119308798 0.51 [{'connected_gene': 'LOC105378511', 'score': 0.31}, {'connected_gene': 'GC10P119246', 'score': 0.21}, {'connected_gene': 'GRK5', 'score': 0.15}]
chr10 GH10I119327 119327390 119329609 0.38 [{'connected_gene': 'LOC105378511', 'score': 0.44}, {'connected_gene': 'GC10P119246', 'score': 0.18}, {'connected_gene': 'GRK5', 'score': 0.13}]
chr10 GH10I119292 119292587 119294326 0.78 [{'connected_gene': 'LOC105378511', 'score': 0.26}, {'connected_gene': 'GC10P119246', 'score': 0.25}, {'connected_gene': 'GRK5', 'score': 0.17}]
chr10 GH10I119324 119324659 119325946 0.38 [{'connected_gene': 'LOC105378511', 'score': 0.39}, {'connected_gene': 'GC10P119246', 'score': 0.18}, {'connected_gene': 'GRK5', 'score': 0.13}]
chr10 GH10I119297 119297004 119298207 0.58 [{'connected_gene': 'LOC105378511', 'score': 0.28}, {'connected_gene': 'GC10P119246', 'score': 0.23}, {'connected_gene': 'GRK5', 'score': 0.16}]
chr10 GH10I119334 119333249 119333398 0.38 [{'connected_gene': 'LOC105378511', 'score': 0.77}, {'connected_gene': 'GC10P119246', 'score': 0.17}, {'connected_gene': 'GRK5', 'score': 0.13}]
chr10 GH10I119321 119321169 119321198 0.51 [{'connected_gene': 'LOC105378511', 'score': 0.37}, {'connected_gene': 'GC10P119246', 'score': 0.19}, {'connected_gene': 'GRK5', 'score': 0.14}]
chr10 GH10I119299 119299601 119299818 0.92 [{'connected_gene': 'LOC105378511', 'score': 0.28}, {'connected_gene': 'GC10P119246', 'score': 0.23}, {'connected_gene': 'GRK5', 'score': 0.16}]
chr10 GH10I119329 119329906 119332003 0.31 [{'connected_gene': 'LOC105378511', 'score': 0.44}, {'connected_gene': 'GC10P119246', 'score': 0.18}, {'connected_gene': 'GRK5', 'score': 0.13}]
chr10 GH10I119310 119310929 119311078 0.51 [{'connected_gene': 'LOC105378511', 'score': 0.31}, {'connected_gene': 'GC10P119246', 'score': 0.21}, {'connected_gene': 'GRK5', 'score': 0.15}]
chr10 GH10I119346 119346171 119347018 0.38 [{'connected_gene': 'LOC105378511', 'score': 0.39}, {'connected_gene': 'MIR4681', 'score': 0.29}, {'connected_gene': 'GRK5', 'score': 0.12}]
chr10 GH10I119233 119232829 119236200 1.09 [{'connected_gene': 'GRK5-IT1', 'score': 12.25}, {'connected_gene': 'GRK5', 'score': 12.25}, {'connected_gene': 'LOC105378511', 'score': 11.69}, {'connected_gene': 'SFXN4', 'score': 6.75}, {'connected_gene': 'GC10P119246', 'score': 0.39}, {'connected_gene': 'RN7SL749P', 'score': 0.34}]
chr10 GH10I119236 119236568 119239648 1.05 [{'connected_gene': 'GRK5-IT1', 'score': 12.23}, {'connected_gene': 'GRK5', 'score': 12.23}, {'connected_gene': 'LOC105378511', 'score': 11.69}, {'connected_gene': 'SFXN4', 'score': 8.23}, {'connected_gene': 'GC10P119246', 'score': 0.44}, {'connected_gene': 'RN7SL749P', 'score': 0.31}]
chr10 GH10I119232 119232356 119232801 0.54 [{'connected_gene': 'GRK5-IT1', 'score': 12.28}, {'connected_gene': 'GRK5', 'score': 12.28}, {'connected_gene': 'LOC105378511', 'score': 11.69}, {'connected_gene': 'SFXN4', 'score': 5.96}, {'connected_gene': 'GC10P119246', 'score': 0.39}, {'connected_gene': 'RN7SL749P', 'score': 0.37}]
chr10 GH10I119377 119377941 119379328 1.11 [{'connected_gene': 'MIR4681', 'score': 550.77}, {'connected_gene': 'EIF3A', 'score': 6.47}, {'connected_gene': 'GC10P119418', 'score': 0.28}, {'connected_gene': 'GRK5', 'score': 0.09}]
chr10 GH10I119383 119383606 119384617 0.31 [{'connected_gene': 'MIR4681', 'score': 0.44}, {'connected_gene': 'GC10P119418', 'score': 0.29}, {'connected_gene': 'GRK5', 'score': 0.1}]
chr10 GH10I119392 119392029 119392178 0.4 [{'connected_gene': 'MIR4681', 'score': 0.39}, {'connected_gene': 'GC10P119418', 'score': 0.31}, {'connected_gene': 'GRK5', 'score': 0.09}]
chr10 GH10I119356 119356895 119359150 0.46 [{'connected_gene': 'MIR4681', 'score': 0.37}, {'connected_gene': 'LOC105378511', 'score': 0.34}, {'connected_gene': 'GRK5', 'score': 0.1}]
chr10 GH10I119438 119438755 119440020 0.31 [{'connected_gene': 'GC10P119418', 'score': 0.34}, {'connected_gene': 'RGS10', 'score': 0.15}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10 GH10I119440 119440821 119442870 0.94 [{'connected_gene': 'GC10P119418', 'score': 0.34}, {'connected_gene': 'RGS10', 'score': 0.15}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10 GH10I119454 119454549 119454638 0.31 [{'connected_gene': 'GC10P119418', 'score': 0.28}, {'connected_gene': 'RGS10', 'score': 0.17}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10 GH10I119420 119420869 119423252 0.77 [{'connected_gene': 'GC10P119418', 'score': 0.77}, {'connected_gene': 'RGS10', 'score': 0.13}, {'connected_gene': 'GRK5', 'score': 0.08}]
chr10 GH10I119249 119249788 119256538 1.42 [{'connected_gene': 'GC10P119246', 'score': 0.44}, {'connected_gene': 'GRK5', 'score': 0.25}, {'connected_gene': 'LOC105378511', 'score': 0.18}]
chr10 GH10I119246 119246201 119248718 1 [{'connected_gene': 'GC10P119246', 'score': 550.77}, {'connected_gene': 'GRK5', 'score': 0.28}, {'connected_gene': 'LOC105378511', 'score': 0.17}]
chr10 GH10I119259 119259281 119259927 0.2 [{'connected_gene': 'GC10P119246', 'score': 0.39}, {'connected_gene': 'GRK5', 'score': 0.23}, {'connected_gene': 'LOC105378511', 'score': 0.18}]
chr10 GH10I119258 119258801 119259000 0.51 [{'connected_gene': 'GC10P119246', 'score': 0.39}, {'connected_gene': 'GRK5', 'score': 0.23}, {'connected_gene': 'LOC105378511', 'score': 0.18}]
chr10 GH10I119257 119257982 119258224 0.38 [{'connected_gene': 'GC10P119246', 'score': 0.39}, {'connected_gene': 'GRK5', 'score': 0.23}, {'connected_gene': 'LOC105378511', 'score': 0.18}]
chr10 GH10I119416 119416800 119417401 1.08 [{'connected_gene': 'GC10P119418', 'score': 550.77}, {'connected_gene': 'GRK5', 'score': 4.18}, {'connected_gene': 'MIR4681', 'score': 0.28}]
chr10 GH10I119243 119243138 119244740 0.79 [{'connected_gene': 'GC10P119246', 'score': 0.77}, {'connected_gene': 'RN7SL749P', 'score': 0.29}, {'connected_gene': 'GRK5', 'score': 0.28}]
chr10 GH10I119240 119240682 119242065 0.54 [{'connected_gene': 'GC10P119246', 'score': 0.77}, {'connected_gene': 'RN7SL749P', 'score': 0.31}, {'connected_gene': 'GRK5', 'score': 0.29}]
chr10 GH10I119398 119398226 119398996 0.51 [{'connected_gene': 'GC10P119418', 'score': 0.37}, {'connected_gene': 'MIR4681', 'score': 0.34}, {'connected_gene': 'GRK5', 'score': 0.08}]
chr10 GH10I119399 119399129 119399278 0.51 [{'connected_gene': 'GC10P119418', 'score': 0.37}, {'connected_gene': 'MIR4681', 'score': 0.34}, {'connected_gene': 'GRK5', 'score': 0.08}]

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