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
ENST00000397801 [[124735281, 124735633], [124738697, 124739024], [124739345, 124739503], [124739843, 124739964], [124740060, 124740199], [124740496, 124740624], [124740909, 124741034], [124742276, 124742448], [124742779, 124742985], [124743205, 124743287], [124743592, 124743758], [124743965, 124744132], [124744683, 124744805], [124745006, 124745232], [124745459, 124745581], [124745849, 124746021], [124746170, 124746356], [124747056, 124747080], [124747162, 124747205], [124747414, 124747554], [124747832, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751362]] [[124735473, 124735633], [124738697, 124739024], [124739345, 124739503], [124739843, 124739964], [124740060, 124740199], [124740496, 124740624], [124740909, 124741034], [124742276, 124742448], [124742779, 124742985], [124743205, 124743287], [124743592, 124743758], [124743965, 124744132], [124744683, 124744805], [124745006, 124745232], [124745459, 124745581], [124745849, 124746021], [124746170, 124746356], [124747056, 124747080], [124747162, 124747205], [124747414, 124747554], [124747832, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751146]]
ENST00000538940 [[124738363, 124739024], [124739345, 124739503], [124739843, 124739964], [124740060, 124740199], [124740496, 124740624], [124740909, 124741034], [124742276, 124742448], [124742779, 124742985], [124743205, 124743287], [124743592, 124743758], [124743965, 124744132], [124744683, 124744805], [124745006, 124745232], [124745459, 124745581], [124745849, 124746021], [124746170, 124746356], [124747056, 124747080], [124747162, 124747205], [124747414, 124747554], [124747832, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751362]] [[124738603, 124739024], [124739345, 124739503], [124739843, 124739964], [124740060, 124740199], [124740496, 124740624], [124740909, 124741034], [124742276, 124742448], [124742779, 124742985], [124743205, 124743287], [124743592, 124743758], [124743965, 124744132], [124744683, 124744805], [124745006, 124745232], [124745459, 124745581], [124745849, 124746021], [124746170, 124746356], [124747056, 124747080], [124747162, 124747205], [124747414, 124747554], [124747832, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751146]]
ENST00000527196 [[124746016, 124746356], [124747056, 124747080], [124747162, 124747205], [124747414, 124747554], [124747832, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751366]] None
ENST00000527245 [[124746361, 124748027], [124748193, 124748332], [124748479, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751362]] None
ENST00000529658 [[124746365, 124746828], [124747414, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751362]] None
ENST00000531545 [[124746381, 124746634], [124747056, 124747080], [124747162, 124747205], [124747414, 124747567]] None
ENST00000525448 [[124746381, 124746828], [124747056, 124747080], [124747162, 124747205], [124747414, 124747648], [124747832, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751362]] None
ENST00000528144 [[124746593, 124746828], [124747414, 124747554], [124748479, 124748692], [124749085, 124749203]] None
ENST00000531888 [[124746623, 124746828], [124747056, 124747413]] None
ENST00000528068 [[124746709, 124747080], [124747162, 124747205], [124747414, 124747572]] None
ENST00000532472 [[124746713, 124747080], [124747458, 124747637]] None
ENST00000531119 [[124746717, 124746828], [124747056, 124747205], [124747414, 124747692]] None
ENST00000530647 [[124746721, 124746828], [124747162, 124747205], [124747414, 124747806]] None
ENST00000526551 [[124746721, 124746828], [124747056, 124747080], [124747162, 124747205], [124747414, 124747554], [124748193, 124748332], [124748479, 124748609]] None
ENST00000528820 [[124746737, 124746828], [124747180, 124747205], [124747414, 124747554], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749775]] None
ENST00000525482 [[124746737, 124746828], [124747056, 124747080], [124747414, 124747554], [124747832, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751361]] None
ENST00000534598 [[124746741, 124746828], [124747056, 124747080], [124747162, 124747205], [124747414, 124748306]] None
ENST00000531075 [[124746770, 124746828], [124747162, 124747205], [124747414, 124747554], [124749085, 124749237], [124749360, 124749471], [124749682, 124749840]] None
ENST00000543966 [[124747283, 124747554], [124747832, 124748027], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751359]] [[124749386, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751146]]
ENST00000525304 [[124748192, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750455]] None
ENST00000524971 [[124748260, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750411]] None
NM_022370 [[124735304, 124735633], [124738697, 124739024], [124739345, 124739503], [124739843, 124739964], [124740060, 124740199], [124740496, 124740624], [124740909, 124741034], [124742276, 124742448], [124742779, 124742985], [124743205, 124743287], [124743592, 124743758], [124743965, 124744132], [124744683, 124744805], [124745006, 124745232], [124745459, 124745581], [124745849, 124746021], [124746170, 124746356], [124747056, 124747080], [124747162, 124747205], [124747414, 124747554], [124747832, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751370]] [[124735473, 124735633], [124738697, 124739024], [124739345, 124739503], [124739843, 124739964], [124740060, 124740199], [124740496, 124740624], [124740909, 124741034], [124742276, 124742448], [124742779, 124742985], [124743205, 124743287], [124743592, 124743758], [124743965, 124744132], [124744683, 124744805], [124745006, 124745232], [124745459, 124745581], [124745849, 124746021], [124746170, 124746356], [124747056, 124747080], [124747162, 124747205], [124747414, 124747554], [124747832, 124748027], [124748193, 124748332], [124748479, 124748692], [124749085, 124749237], [124749360, 124749471], [124749682, 124749844], [124750313, 124750504], [124751134, 124751146]]
Promoter
Chrom Start End Description
chr11 124735323 124735332 CAGE_peak_21_at_ROBO3_5end
chr11 124746051 124746087 CAGE_peak_4_at_ROBO3_5end
chr11 124746306 124746336 CAGE_peak_3_at_ROBO3_5end
chr11 124746341 124746358 CAGE_peak_7_at_ROBO3_5end
chr11 124746692 124746727 CAGE_peak_2_at_ROBO3_5end
chr11 124746732 124746773 CAGE_peak_1_at_ROBO3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I124953 124953070 124955167 2.25 [{'connected_gene': 'CCDC15', 'score': 610.99}, {'connected_gene': 'LOC105369547', 'score': 550.77}, {'connected_gene': 'ROBO4', 'score': 9.81}, {'connected_gene': 'ROBO3', 'score': 5.21}]
chr11 GH11I124625 124625845 124626034 0.43 [{'connected_gene': 'ROBO3', 'score': 9.87}, {'connected_gene': 'TBRG1', 'score': 0.77}, {'connected_gene': 'RNA5SP352', 'score': 0.39}]
chr11 GH11I124836 124836087 124838070 0.94 [{'connected_gene': 'ROBO3', 'score': 11.97}, {'connected_gene': 'MSANTD2', 'score': 11.93}, {'connected_gene': 'LOC100507283', 'score': 11.93}, {'connected_gene': 'SIAE', 'score': 11.35}, {'connected_gene': 'SPA17', 'score': 11.33}, {'connected_gene': 'ESAM', 'score': 11.0}, {'connected_gene': 'LOC101929340', 'score': 10.99}, {'connected_gene': 'VSIG2', 'score': 10.98}, {'connected_gene': 'ENSG00000255045', 'score': 10.97}, {'connected_gene': 'NRGN', 'score': 10.86}, {'connected_gene': 'ROBO4', 'score': 9.57}, {'connected_gene': 'CCDC15', 'score': 9.3}, {'connected_gene': 'GC11M124844', 'score': 0.44}, {'connected_gene': 'GC11M124812', 'score': 0.34}]
chr11 GH11I124926 124926122 124927000 0.2 [{'connected_gene': 'ROBO3', 'score': 7.96}, {'connected_gene': 'HEPN1', 'score': 0.44}, {'connected_gene': 'HEPACAM', 'score': 0.44}, {'connected_gene': 'PIR60526', 'score': 0.44}]
chr11 GH11I124922 124922212 124924241 0.2 [{'connected_gene': 'ROBO3', 'score': 16.88}, {'connected_gene': 'ROBO4', 'score': 11.38}, {'connected_gene': 'ENSG00000254943', 'score': 10.97}, {'connected_gene': 'CCDC15', 'score': 10.82}, {'connected_gene': 'HEPACAM', 'score': 5.85}, {'connected_gene': 'LOC105369549', 'score': 5.67}, {'connected_gene': 'HEPN1', 'score': 0.77}, {'connected_gene': 'PIR60526', 'score': 0.39}]
chr11 GH11I124886 124886369 124887119 0.2 [{'connected_gene': 'ROBO3', 'score': 13.62}, {'connected_gene': 'ENSG00000254568', 'score': 0.77}, {'connected_gene': 'GC11P124889', 'score': 0.77}, {'connected_gene': 'ROBO4', 'score': 0.39}]
chr11 GH11I124943 124943305 124944320 0.72 [{'connected_gene': 'ROBO3', 'score': 8.55}, {'connected_gene': 'GC11M124934', 'score': 0.77}, {'connected_gene': 'HEPACAM', 'score': 0.44}]
chr11 GH11I124878 124878911 124880977 0.46 [{'connected_gene': 'ROBO3', 'score': 12.77}, {'connected_gene': 'GC11M124876', 'score': 0.77}, {'connected_gene': 'ENSG00000254568', 'score': 0.77}]
chr11 GH11I124865 124865383 124865442 0.92 [{'connected_gene': 'ROBO3', 'score': 550.77}, {'connected_gene': 'GC11M124861', 'score': 550.77}, {'connected_gene': 'GC11M124874', 'score': 0.39}]
chr11 GH11I124894 124893625 124901850 2.14 [{'connected_gene': 'ROBO4', 'score': 561.21}, {'connected_gene': 'ROBO3', 'score': 24.15}, {'connected_gene': 'HEPACAM', 'score': 10.38}, {'connected_gene': 'CCDC15', 'score': 9.91}, {'connected_gene': 'ENSG00000254943', 'score': 0.44}]
chr11 GH11I124717 124717269 124718600 1.29 [{'connected_gene': 'SPA17', 'score': 21.24}, {'connected_gene': 'ESAM', 'score': 15.22}, {'connected_gene': 'NRGN', 'score': 14.11}, {'connected_gene': 'ENSG00000255045', 'score': 12.22}, {'connected_gene': 'VSIG2', 'score': 12.19}, {'connected_gene': 'SIAE', 'score': 12.18}, {'connected_gene': 'LOC101929340', 'score': 12.17}, {'connected_gene': 'ROBO3', 'score': 9.39}, {'connected_gene': 'ROBO4', 'score': 1.67}, {'connected_gene': 'GC11P124740', 'score': 0.34}]
chr11 GH11I124768 124768953 124772270 0.88 [{'connected_gene': 'NRGN', 'score': 12.52}, {'connected_gene': 'SIAE', 'score': 11.69}, {'connected_gene': 'SPA17', 'score': 11.65}, {'connected_gene': 'LOC100507283', 'score': 11.23}, {'connected_gene': 'MSANTD2', 'score': 11.21}, {'connected_gene': 'ROBO3', 'score': 10.13}, {'connected_gene': 'VSIG2', 'score': 5.88}, {'connected_gene': 'ESAM', 'score': 0.44}, {'connected_gene': 'ENSG00000254509', 'score': 0.34}]
chr11 GH11I125057 125057216 125058543 0.79 [{'connected_gene': 'HEPACAM', 'score': 9.4}, {'connected_gene': 'CCDC15', 'score': 6.99}, {'connected_gene': 'ROBO3', 'score': 5.02}, {'connected_gene': 'SLC37A2', 'score': 0.44}, {'connected_gene': 'GC11M125054', 'score': 0.44}, {'connected_gene': 'GC11M125045', 'score': 0.39}]
chr11 GH11I124934 124934044 124936096 1.7 [{'connected_gene': 'HEPACAM', 'score': 559.42}, {'connected_gene': 'PIR60526', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 6.18}, {'connected_gene': 'GC11M124934', 'score': 0.39}]
chr11 GH11I125061 125061207 125064700 2.11 [{'connected_gene': 'SLC37A2', 'score': 550.77}, {'connected_gene': 'CCDC15', 'score': 14.65}, {'connected_gene': 'ROBO3', 'score': 6.37}, {'connected_gene': 'GC11M125054', 'score': 0.77}, {'connected_gene': 'GC11M125045', 'score': 0.37}]
chr11 GH11I124928 124928400 124931362 0.66 [{'connected_gene': 'LOC105369549', 'score': 6.99}, {'connected_gene': 'ROBO3', 'score': 5.72}, {'connected_gene': 'PIR60526', 'score': 0.77}, {'connected_gene': 'HEPACAM', 'score': 0.44}, {'connected_gene': 'HEPN1', 'score': 0.39}]
chr11 GH11I125082 125082147 125084196 0.94 [{'connected_gene': 'LOC105369549', 'score': 9.54}, {'connected_gene': 'TMEM218', 'score': 5.78}, {'connected_gene': 'ROBO3', 'score': 5.07}, {'connected_gene': 'GC11P125080', 'score': 0.77}, {'connected_gene': 'GC11P125088', 'score': 0.44}, {'connected_gene': 'SLC37A2', 'score': 0.34}]
chr11 GH11I124793 124793785 124793934 0.64 [{'connected_gene': 'ENSG00000279342', 'score': 550.77}, {'connected_gene': 'ESAM', 'score': 11.72}, {'connected_gene': 'LOC101929340', 'score': 11.72}, {'connected_gene': 'VSIG2', 'score': 11.68}, {'connected_gene': 'ENSG00000255045', 'score': 11.67}, {'connected_gene': 'SIAE', 'score': 11.44}, {'connected_gene': 'SPA17', 'score': 11.42}, {'connected_gene': 'NRGN', 'score': 10.61}, {'connected_gene': 'ROBO3', 'score': 9.96}, {'connected_gene': 'LOC100507283', 'score': 6.07}, {'connected_gene': 'MSANTD2', 'score': 0.44}]
chr11 GH11I124887 124887703 124889978 0.2 [{'connected_gene': 'GC11P124889', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 14.76}, {'connected_gene': 'ROBO4', 'score': 10.91}, {'connected_gene': 'ENSG00000254568', 'score': 0.44}]
chr11 GH11I124883 124883680 124886042 0.38 [{'connected_gene': 'ENSG00000254568', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 14.69}, {'connected_gene': 'GC11P124889', 'score': 0.44}, {'connected_gene': 'ROBO4', 'score': 0.39}]
chr11 GH11I124915 124915870 124917898 0.79 [{'connected_gene': 'GC11M124917', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 8.47}, {'connected_gene': 'ROBO4', 'score': 5.88}]
chr11 GH11I124844 124843185 124843334 0.46 [{'connected_gene': 'GC11M124844', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 12.05}, {'connected_gene': 'SIAE', 'score': 10.58}, {'connected_gene': 'SPA17', 'score': 10.57}, {'connected_gene': 'ENSG00000254943', 'score': 10.23}, {'connected_gene': 'NRGN', 'score': 10.21}, {'connected_gene': 'ROBO4', 'score': 10.04}, {'connected_gene': 'GC11M124812', 'score': 0.31}]
chr11 GH11I124843 124843508 124843627 0.43 [{'connected_gene': 'GC11M124844', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 12.05}, {'connected_gene': 'SIAE', 'score': 10.58}, {'connected_gene': 'SPA17', 'score': 10.57}, {'connected_gene': 'ENSG00000254943', 'score': 10.23}, {'connected_gene': 'NRGN', 'score': 10.21}, {'connected_gene': 'ROBO4', 'score': 10.05}, {'connected_gene': 'GC11M124812', 'score': 0.31}]
chr11 GH11I124882 124882205 124883382 1.24 [{'connected_gene': 'ENSG00000254568', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 19.81}, {'connected_gene': 'GC11M124876', 'score': 0.77}]
chr11 GH11I124875 124875764 124877730 1.69 [{'connected_gene': 'GC11M124874', 'score': 550.77}, {'connected_gene': 'GC11M124876', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 10.23}]

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