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
ENST00000393223 [[95566045, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95615537, 95615660], [95621319, 95621425], [95647405, 95647476], [95657038, 95657371]] [[95568453, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598810]]
ENST00000346299 [[95566045, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95621319, 95621425], [95657038, 95657459]] [[95568453, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95621319, 95621425], [95657038, 95657118]]
ENST00000409459 [[95567251, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95620775, 95620848], [95621319, 95621425], [95647405, 95647476], [95657038, 95657260]] [[95568453, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598810]]
ENST00000352297 [[95567252, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95621319, 95621425], [95647405, 95647476], [95657038, 95657264]] [[95568453, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598810]]
ENST00000444541 [[95568499, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95620775, 95620848], [95621319, 95621425], [95646102, 95646241]] [[95568499, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598810]]
ENST00000484818 [[95583775, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95621319, 95621425], [95656855, 95656982]] None
ENST00000495134 [[95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95620775, 95620923], [95621319, 95621425], [95647405, 95647476], [95656855, 95657032]] None
ENST00000485740 [[95595236, 95595266], [95595435, 95595530], [95598603, 95598840], [95621319, 95621425], [95647405, 95647476], [95656855, 95657029]] None
ENST00000472423 [[95595251, 95595266], [95595435, 95595530], [95598603, 95598840], [95620775, 95620848], [95621319, 95621425]] None
ENST00000497683 [[95595455, 95595530], [95598764, 95598840], [95599566, 95599650], [95620775, 95620848], [95621319, 95621425], [95647405, 95647476], [95656855, 95656927]] None
ENST00000470293 [[95598789, 95598840], [95599566, 95599650], [95615537, 95615660], [95621319, 95621425], [95647405, 95647476], [95656855, 95656960]] None
ENST00000481642 [[95599589, 95599650], [95620775, 95620848], [95621319, 95621425], [95647405, 95647476], [95657038, 95657271]] None
ENST00000470011 [[95620773, 95620848], [95621319, 95621425], [95647405, 95647476], [95657038, 95657164], [95658244, 95658434]] None
ENST00000469574 [[95620775, 95620848], [95621319, 95621425], [95647405, 95647476], [95656855, 95657032]] None
ENST00000485988 [[95657642, 95657940], [95658244, 95658479]] None
NM_001243571 [[95566043, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95615537, 95615660], [95620775, 95620848], [95621319, 95621425], [95647405, 95647476], [95657038, 95657371]] [[95568453, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598810]]
NM_201278 [[95566043, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95615537, 95615660], [95621319, 95621425], [95647405, 95647476], [95657038, 95657371]] [[95568453, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598810]]
NM_201281 [[95566043, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95621319, 95621425], [95647405, 95647476], [95657038, 95657371]] [[95568453, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598810]]
NM_016156 [[95566043, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95621319, 95621425], [95657038, 95657371]] [[95568453, 95568615], [95569311, 95569488], [95571257, 95571371], [95574780, 95574873], [95578116, 95578323], [95580877, 95581063], [95582837, 95583026], [95583763, 95583913], [95590715, 95590799], [95591694, 95591796], [95595155, 95595266], [95595435, 95595530], [95598764, 95598840], [95621319, 95621425], [95657038, 95657118]]
Promoter
Chrom Start End Description
chr11 95657017 95657028 CAGE_peak_4_at_MTMR2_5end
chr11 95657124 95657203 CAGE_peak_2_at_MTMR2_5end
chr11 95657210 95657228 CAGE_peak_3_at_MTMR2_5end
chr11 95657231 95657287 CAGE_peak_1_at_MTMR2_5end
chr11 95657628 95657642 CAGE_peak_7_at_MTMR2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I095863 95863082 95864805 0.4 [{'connected_gene': 'CEP57', 'score': 23.58}, {'connected_gene': 'MTMR2', 'score': 6.72}, {'connected_gene': 'GC11M095879', 'score': 0.37}, {'connected_gene': 'RNA5SP345', 'score': 0.34}]
chr11 GH11I095876 95876197 95878942 0.96 [{'connected_gene': 'CEP57', 'score': 11.19}, {'connected_gene': 'MTMR2', 'score': 8.81}, {'connected_gene': 'GC11M095879', 'score': 0.77}, {'connected_gene': 'RNA5SP345', 'score': 0.28}]
chr11 GH11I095908 95908327 95910177 0.2 [{'connected_gene': 'CEP57', 'score': 19.24}, {'connected_gene': 'GC11M095916', 'score': 0.39}, {'connected_gene': 'MTMR2', 'score': 0.37}, {'connected_gene': 'GC11M095879', 'score': 0.31}]
chr11 GH11I095916 95916751 95918333 1.1 [{'connected_gene': 'CEP57', 'score': 4.38}, {'connected_gene': 'GC11M095916', 'score': 0.77}, {'connected_gene': 'MTMR2', 'score': 0.44}, {'connected_gene': 'GC11M095879', 'score': 0.28}]
chr11 GH11I095883 95883997 95885023 0.76 [{'connected_gene': 'CEP57', 'score': 24.15}, {'connected_gene': 'GC11M095879', 'score': 0.77}, {'connected_gene': 'GC11M095916', 'score': 0.28}, {'connected_gene': 'MTMR2', 'score': 0.26}]
chr11 GH11I095788 95788221 95792611 2.3 [{'connected_gene': 'CEP57', 'score': 590.6}, {'connected_gene': 'FAM76B', 'score': 586.01}, {'connected_gene': 'FGFR3P2', 'score': 23.27}, {'connected_gene': 'MAML2', 'score': 18.24}, {'connected_gene': 'JRKL', 'score': 14.39}, {'connected_gene': 'LOC101929295', 'score': 10.76}, {'connected_gene': 'MTMR2', 'score': 9.61}, {'connected_gene': 'GC11M095802', 'score': 0.37}]
chr11 GH11I095798 95798151 95798654 0.2 [{'connected_gene': 'CEP57', 'score': 26.83}, {'connected_gene': 'LOC101929295', 'score': 9.54}, {'connected_gene': 'MTMR2', 'score': 7.91}, {'connected_gene': 'GC11M095802', 'score': 0.44}, {'connected_gene': 'FAM76B', 'score': 0.44}]
chr11 GH11I095835 95835279 95836883 0.99 [{'connected_gene': 'CEP57', 'score': 25.15}, {'connected_gene': 'LOC101929295', 'score': 9.38}, {'connected_gene': 'MTMR2', 'score': 4.98}, {'connected_gene': 'RNA5SP345', 'score': 0.77}, {'connected_gene': 'GC11M095816', 'score': 0.44}]
chr11 GH11I095848 95848928 95850081 0.82 [{'connected_gene': 'CEP57', 'score': 25.85}, {'connected_gene': 'RNA5SP345', 'score': 0.44}, {'connected_gene': 'GC11M095879', 'score': 0.29}, {'connected_gene': 'MTMR2', 'score': 0.18}]
chr11 GH11I095922 95922548 95925758 2.28 [{'connected_gene': 'MTMR2', 'score': 561.06}, {'connected_gene': 'CEP57', 'score': 32.78}, {'connected_gene': 'FAM76B', 'score': 31.96}, {'connected_gene': 'FGFR3P2', 'score': 13.24}, {'connected_gene': 'GC11M095916', 'score': 0.77}]
chr11 GH11I096218 96218997 96222399 1.24 [{'connected_gene': 'MTMR2', 'score': 4.98}, {'connected_gene': 'GC11P096202', 'score': 0.37}, {'connected_gene': 'GC11M096338', 'score': 0.13}, {'connected_gene': 'MAML2', 'score': 0.13}]
chr11 GH11I096211 96211537 96218710 1.4 [{'connected_gene': 'MTMR2', 'score': 5.16}, {'connected_gene': 'GC11P096202', 'score': 0.39}, {'connected_gene': 'GC11M096338', 'score': 0.13}, {'connected_gene': 'MAML2', 'score': 0.13}]
chr11 GH11I096184 96184737 96190342 1.19 [{'connected_gene': 'MTMR2', 'score': 4.38}, {'connected_gene': 'GC11P096202', 'score': 0.37}, {'connected_gene': 'MAML2', 'score': 0.1}, {'connected_gene': 'GC11M095989', 'score': 0.09}]
chr11 GH11I096160 96160578 96164258 1.03 [{'connected_gene': 'MTMR2', 'score': 4.72}, {'connected_gene': 'GC11P096202', 'score': 0.26}, {'connected_gene': 'GC11M095989', 'score': 0.1}, {'connected_gene': 'MAML2', 'score': 0.09}]
chr11 GH11I096166 96166001 96167600 0.97 [{'connected_gene': 'MTMR2', 'score': 4.52}, {'connected_gene': 'GC11P096202', 'score': 0.28}, {'connected_gene': 'GC11M095989', 'score': 0.1}, {'connected_gene': 'MAML2', 'score': 0.1}]
chr11 GH11I095913 95913400 95913601 0.4 [{'connected_gene': 'MTMR2', 'score': 4.66}, {'connected_gene': 'GC11M095916', 'score': 0.44}, {'connected_gene': 'GC11M095879', 'score': 0.29}]
chr11 GH11I095897 95897269 95898286 0.2 [{'connected_gene': 'MTMR2', 'score': 12.22}, {'connected_gene': 'GC11M095879', 'score': 0.37}, {'connected_gene': 'GC11M095916', 'score': 0.34}]
chr11 GH11I096226 96226802 96232199 1.44 [{'connected_gene': 'MAML2', 'score': 6.45}, {'connected_gene': 'MTMR2', 'score': 5.11}, {'connected_gene': 'FAM76B', 'score': 3.14}, {'connected_gene': 'JRKL', 'score': 2.01}, {'connected_gene': 'CCDC82', 'score': 1.77}, {'connected_gene': 'GC11P096202', 'score': 0.31}, {'connected_gene': 'GC11M096338', 'score': 0.14}]
chr11 GH11I096168 96168277 96170061 1.39 [{'connected_gene': 'MAML2', 'score': 9.99}, {'connected_gene': 'MTMR2', 'score': 5.04}, {'connected_gene': 'FAM76B', 'score': 3.82}, {'connected_gene': 'JRKL', 'score': 2.57}, {'connected_gene': 'CCDC82', 'score': 2.3}, {'connected_gene': 'GC11P096202', 'score': 0.29}, {'connected_gene': 'GC11M095989', 'score': 0.09}]
chr11 GH11I096206 96206202 96209599 1.51 [{'connected_gene': 'MAML2', 'score': 12.46}, {'connected_gene': 'FAM76B', 'score': 9.51}, {'connected_gene': 'MTMR2', 'score': 4.58}, {'connected_gene': 'CCDC82', 'score': 3.38}, {'connected_gene': 'JRKL', 'score': 1.34}, {'connected_gene': 'GC11P096202', 'score': 0.44}, {'connected_gene': 'GC11M096338', 'score': 0.12}]
chr11 GH11I095066 95066276 95069947 2.28 [{'connected_gene': 'SRSF8', 'score': 563.59}, {'connected_gene': 'GC11P095067', 'score': 550.77}, {'connected_gene': 'GC11M095066', 'score': 550.77}, {'connected_gene': 'ENDOD1', 'score': 17.07}, {'connected_gene': 'LOC101929295', 'score': 11.86}, {'connected_gene': 'KDM4E', 'score': 10.68}, {'connected_gene': 'CWC15', 'score': 10.61}, {'connected_gene': 'KDM4D', 'score': 10.61}, {'connected_gene': 'MTMR2', 'score': 10.42}, {'connected_gene': 'GC11P095083', 'score': 0.37}]
chr11 GH11I095795 95795777 95795926 0.85 [{'connected_gene': 'LOC101929295', 'score': 10.5}, {'connected_gene': 'MTMR2', 'score': 9.94}, {'connected_gene': 'CEP57', 'score': 0.44}, {'connected_gene': 'FAM76B', 'score': 0.44}, {'connected_gene': 'GC11M095802', 'score': 0.39}]
chr11 GH11I095829 95829167 95833687 0.74 [{'connected_gene': 'GC11M095816', 'score': 550.77}, {'connected_gene': 'CEP57', 'score': 26.66}, {'connected_gene': 'LOC101929295', 'score': 9.27}, {'connected_gene': 'MTMR2', 'score': 5.74}, {'connected_gene': 'RNA5SP345', 'score': 0.44}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.