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
ENST00000358780 [[95502105, 95504814], [95509085, 95509187], [95511985, 95512121], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522955]] [[95504724, 95504814], [95509085, 95509187], [95511985, 95512121], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522642]]
ENST00000398187 [[95502116, 95504814], [95509085, 95509187], [95511985, 95512121], [95512241, 95512299], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522779]] [[95512289, 95512299], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522642]]
ENST00000543641 [[95502118, 95502151], [95504768, 95504814], [95509085, 95509187], [95511985, 95512121], [95512241, 95512299], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522954]] [[95512289, 95512299], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522642]]
ENST00000536839 [[95503278, 95504814], [95509085, 95509187], [95511985, 95512118], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522725]] [[95504724, 95504814], [95509085, 95509187], [95511985, 95512118], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522642]]
ENST00000545813 [[95504689, 95504814], [95509085, 95509187], [95511985, 95512383]] None
ENST00000541418 [[95509017, 95509187], [95511985, 95512368]] None
ENST00000545654 [[95511999, 95512118], [95512241, 95512299], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95522946]] None
ENST00000535919 [[95512652, 95512851], [95513042, 95513090], [95516228, 95516432]] None
ENST00000542135 [[95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522846, 95522980]] [[95516228, 95516428], [95519282, 95519356]]
ENST00000540054 [[95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95523319, 95523573]] [[95516228, 95516428], [95519282, 95519356]]
ENST00000537749 [[95516361, 95516428], [95519282, 95519969]] [[95516361, 95516428], [95519282, 95519356]]
ENST00000538047 [[95519346, 95519438], [95520787, 95520842], [95521662, 95521727], [95522032, 95522268]] None
ENST00000538316 [[95520788, 95520842], [95521662, 95521727], [95522022, 95522111], [95522555, 95522932]] [[95522048, 95522111], [95522555, 95522642]]
NM_144664 [[95502105, 95504814], [95509085, 95509187], [95511985, 95512121], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522954]] [[95504724, 95504814], [95509085, 95509187], [95511985, 95512121], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522642]]
NM_001330357 [[95502105, 95504814], [95509085, 95509187], [95511985, 95512118], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522955]] [[95504724, 95504814], [95509085, 95509187], [95511985, 95512118], [95512770, 95512851], [95513042, 95513090], [95516228, 95516428], [95519282, 95519438], [95520787, 95520842], [95521662, 95521727], [95522555, 95522642]]
Promoter
Chrom Start End Description
chr11 95522639 95522710 CAGE_peak_3_at_FAM76B_5end
chr11 95522907 95522989 CAGE_peak_1_at_FAM76B_5end
chr11 95523500 95523580 CAGE_peak_2_at_FAM76B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH11I095714 95714360 95717584 1.49 [{'connected_gene': 'CEP57', 'score': 13.28}, {'connected_gene': 'LOC101929295', 'score': 10.57}, {'connected_gene': 'FAM76B', 'score': 2.37}, {'connected_gene': 'GC11M095720', 'score': 0.39}, {'connected_gene': 'ENSG00000255605', 'score': 0.37}]
chr11 GH11I095796 95795440 95795499 0.5 [{'connected_gene': 'CEP57', 'score': 550.44}, {'connected_gene': 'LOC101929295', 'score': 10.5}, {'connected_gene': 'FAM76B', 'score': 0.44}, {'connected_gene': 'GC11M095802', 'score': 0.39}]
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 GH11I096011 96011538 96017134 1.69 [{'connected_gene': 'MAML2', 'score': 16.12}, {'connected_gene': 'CEP57', 'score': 11.01}, {'connected_gene': 'JRKL', 'score': 10.34}, {'connected_gene': 'FAM76B', 'score': 5.95}, {'connected_gene': 'LOC101929295', 'score': 5.71}, {'connected_gene': 'CCDC82', 'score': 1.78}, {'connected_gene': 'GC11M095989', 'score': 0.37}, {'connected_gene': 'GC11P096202', 'score': 0.09}]
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 GH11I096253 96253088 96260827 1.65 [{'connected_gene': 'MAML2', 'score': 24.1}, {'connected_gene': 'CCDC82', 'score': 8.37}, {'connected_gene': 'FAM76B', 'score': 7.15}, {'connected_gene': 'JRKL', 'score': 2.84}, {'connected_gene': 'GC11P096202', 'score': 0.23}, {'connected_gene': 'GC11M096338', 'score': 0.18}]
chr11 GH11I096266 96266931 96268916 1.42 [{'connected_gene': 'MAML2', 'score': 7.85}, {'connected_gene': 'CCDC82', 'score': 4.49}, {'connected_gene': 'FAM76B', 'score': 3.19}, {'connected_gene': 'JRKL', 'score': 1.53}, {'connected_gene': 'GC11P096202', 'score': 0.2}, {'connected_gene': 'GC11M096338', 'score': 0.19}]
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 GH11I096262 96262617 96266256 1.45 [{'connected_gene': 'MAML2', 'score': 21.99}, {'connected_gene': 'FAM76B', 'score': 3.3}, {'connected_gene': 'JRKL', 'score': 2.51}, {'connected_gene': 'CCDC82', 'score': 2.17}, {'connected_gene': 'GC11P096202', 'score': 0.21}, {'connected_gene': 'GC11M096338', 'score': 0.18}]
chr11 GH11I096045 96045699 96047127 1.23 [{'connected_gene': 'MAML2', 'score': 7.79}, {'connected_gene': 'FAM76B', 'score': 2.46}, {'connected_gene': 'JRKL', 'score': 2.12}, {'connected_gene': 'CCDC82', 'score': 1.68}, {'connected_gene': 'GC11M095989', 'score': 0.25}, {'connected_gene': 'GC11P096202', 'score': 0.1}]
chr11 GH11I096241 96241148 96244732 1.75 [{'connected_gene': 'MAML2', 'score': 25.1}, {'connected_gene': 'FAM76B', 'score': 16.7}, {'connected_gene': 'CCDC82', 'score': 3.24}, {'connected_gene': 'JRKL', 'score': 2.21}, {'connected_gene': 'GC11P096202', 'score': 0.26}, {'connected_gene': 'GC11M096338', 'score': 0.15}]
chr11 GH11I096134 96134118 96135594 0.69 [{'connected_gene': 'MAML2', 'score': 14.62}, {'connected_gene': 'FAM76B', 'score': 4.67}, {'connected_gene': 'CCDC82', 'score': 2.39}, {'connected_gene': 'GC11P096202', 'score': 0.2}, {'connected_gene': 'GC11M095989', 'score': 0.12}]
chr11 GH11I096273 96273679 96274103 0.77 [{'connected_gene': 'MAML2', 'score': 5.29}, {'connected_gene': 'FAM76B', 'score': 1.97}, {'connected_gene': 'CCDC82', 'score': 1.77}, {'connected_gene': 'GC11M096338', 'score': 0.2}, {'connected_gene': 'GC11P096202', 'score': 0.19}]
chr11 GH11I096263 96262198 96262429 0.56 [{'connected_gene': 'MAML2', 'score': 13.75}, {'connected_gene': 'FAM76B', 'score': 1.29}, {'connected_gene': 'GC11P096202', 'score': 0.22}, {'connected_gene': 'GC11M096338', 'score': 0.18}]
chr11 GH11I096337 96337039 96343891 2.51 [{'connected_gene': 'MAML2', 'score': 568.26}, {'connected_gene': 'GC11M096338', 'score': 550.77}, {'connected_gene': 'MIR1260B', 'score': 550.77}, {'connected_gene': 'FAM76B', 'score': 26.9}, {'connected_gene': 'FGFR3P2', 'score': 14.49}, {'connected_gene': 'CEP57', 'score': 11.86}, {'connected_gene': 'CCDC82', 'score': 7.56}, {'connected_gene': 'JRKL', 'score': 3.74}]
chr11 GH11I096388 96388618 96391084 2.02 [{'connected_gene': 'CCDC82', 'score': 633.42}, {'connected_gene': 'JRKL', 'score': 550.77}, {'connected_gene': 'FAM76B', 'score': 10.97}, {'connected_gene': 'MAML2', 'score': 0.25}]
chr11 GH11I094972 94972298 94974401 2.01 [{'connected_gene': 'CWC15', 'score': 568.62}, {'connected_gene': 'KDM4D', 'score': 550.77}, {'connected_gene': 'ANKRD49', 'score': 13.55}, {'connected_gene': 'MRE11', 'score': 11.6}, {'connected_gene': 'FAM76B', 'score': 10.96}, {'connected_gene': 'GC11P094966', 'score': 0.44}]
chr11 GH11I095364 95364321 95364906 0.8 [{'connected_gene': 'MRE11', 'score': 19.19}, {'connected_gene': 'ANKRD49', 'score': 14.5}, {'connected_gene': 'FAM76B', 'score': 14.26}, {'connected_gene': 'SESN3', 'score': 10.29}, {'connected_gene': 'MAML2', 'score': 10.28}, {'connected_gene': 'LOC101929295', 'score': 10.25}, {'connected_gene': 'FUT4', 'score': 10.1}, {'connected_gene': 'GC11M095337', 'score': 0.31}, {'connected_gene': 'LOC105369439', 'score': 0.15}]
chr11 GH11I095156 95156263 95158392 0.54 [{'connected_gene': 'ENDOD1', 'score': 18.82}, {'connected_gene': 'CEP57', 'score': 11.02}, {'connected_gene': 'FAM76B', 'score': 11.02}, {'connected_gene': 'SESN3', 'score': 9.74}, {'connected_gene': 'GC11M095158', 'score': 0.77}, {'connected_gene': 'LOC101929295', 'score': 0.44}]
chr11 GH11I095098 95098550 95100313 0.91 [{'connected_gene': 'ENDOD1', 'score': 11.37}, {'connected_gene': 'LOC101929295', 'score': 11.01}, {'connected_gene': 'FAM76B', 'score': 4.42}, {'connected_gene': 'GC11M095076', 'score': 0.77}, {'connected_gene': 'GC11P095093', 'score': 0.44}]
chr11 GH11I096153 96153202 96158975 1.71 [{'connected_gene': 'FAM76B', 'score': 37.27}, {'connected_gene': 'CEP57', 'score': 32.33}, {'connected_gene': 'FGFR3P2', 'score': 27.8}, {'connected_gene': 'CCDC82', 'score': 13.17}, {'connected_gene': 'JRKL', 'score': 11.32}, {'connected_gene': 'MAML2', 'score': 10.47}, {'connected_gene': 'GC11P096202', 'score': 0.25}, {'connected_gene': 'GC11M095989', 'score': 0.1}]
chr11 GH11I096105 96105201 96106309 1.07 [{'connected_gene': 'FAM76B', 'score': 3.99}, {'connected_gene': 'MAML2', 'score': 3.09}, {'connected_gene': 'CCDC82', 'score': 1.46}, {'connected_gene': 'CEP57', 'score': 1.26}, {'connected_gene': 'GC11P096202', 'score': 0.15}, {'connected_gene': 'GC11M095989', 'score': 0.14}]
chr11 GH11I096180 96180237 96181469 0.31 [{'connected_gene': 'FAM76B', 'score': 11.71}, {'connected_gene': 'MAML2', 'score': 10.33}, {'connected_gene': 'GC11P096202', 'score': 0.34}, {'connected_gene': 'GC11M095989', 'score': 0.09}]
chr11 GH11I096197 96196932 96201083 1.18 [{'connected_gene': 'FAM76B', 'score': 11.71}, {'connected_gene': 'MAML2', 'score': 10.35}, {'connected_gene': 'GC11P096202', 'score': 0.77}, {'connected_gene': 'GC11M095989', 'score': 0.08}]
chr11 GH11I095146 95146608 95154450 2.25 [{'connected_gene': 'LOC101929295', 'score': 556.79}, {'connected_gene': 'CEP57', 'score': 20.31}, {'connected_gene': 'FAM76B', 'score': 16.44}, {'connected_gene': 'FGFR3P2', 'score': 15.64}, {'connected_gene': 'SESN3', 'score': 15.61}, {'connected_gene': 'ANKRD49', 'score': 13.94}, {'connected_gene': 'MRE11', 'score': 12.94}, {'connected_gene': 'SRSF8', 'score': 7.48}, {'connected_gene': 'ENDOD1', 'score': 6.65}, {'connected_gene': 'LOC105369435', 'score': 5.31}, {'connected_gene': 'CWC15', 'score': 1.93}, {'connected_gene': 'KDM4E', 'score': 1.7}, {'connected_gene': 'ENSG00000270578', 'score': 0.44}]
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 GH11I095702 95702401 95703847 0.93 [{'connected_gene': 'LOC101929295', 'score': 11.19}, {'connected_gene': 'SESN3', 'score': 10.51}, {'connected_gene': 'CEP57', 'score': 5.69}, {'connected_gene': 'FAM76B', 'score': 1.75}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'GC11M095720', 'score': 0.31}]
chr11 GH11I095688 95688877 95689217 0.86 [{'connected_gene': 'LOC101929295', 'score': 9.88}, {'connected_gene': 'SESN3', 'score': 9.78}, {'connected_gene': 'FAM76B', 'score': 1.67}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'LOC105369441', 'score': 0.19}]
chr11 GH11I095711 95711097 95712025 1.1 [{'connected_gene': 'LOC101929295', 'score': 10.12}, {'connected_gene': 'FAM76B', 'score': 4.32}, {'connected_gene': 'ENSG00000255605', 'score': 0.39}, {'connected_gene': 'GC11M095720', 'score': 0.37}]
chr11 GH11I096328 96328337 96334097 1.39 [{'connected_gene': 'FGFR3P2', 'score': 23.0}, {'connected_gene': 'FAM76B', 'score': 16.29}, {'connected_gene': 'CCDC82', 'score': 15.34}, {'connected_gene': 'CEP57', 'score': 15.23}, {'connected_gene': 'JRKL', 'score': 14.58}, {'connected_gene': 'MAML2', 'score': 10.03}, {'connected_gene': 'GC11M096338', 'score': 0.44}, {'connected_gene': 'GC11P096202', 'score': 0.13}]
chr11 GH11I095248 95248317 95249576 0.95 [{'connected_gene': 'FGFR3P2', 'score': 15.87}, {'connected_gene': 'FAM76B', 'score': 15.57}, {'connected_gene': 'MRE11', 'score': 14.34}, {'connected_gene': 'ANKRD49', 'score': 11.55}, {'connected_gene': 'CEP57', 'score': 11.34}, {'connected_gene': 'LOC101929295', 'score': 9.91}, {'connected_gene': 'GC11M095260', 'score': 0.39}, {'connected_gene': 'SESN3', 'score': 0.37}]
chr11 GH11I095228 95228018 95233778 2.18 [{'connected_gene': 'LOC100129203', 'score': 550.77}, {'connected_gene': 'SESN3', 'score': 550.77}, {'connected_gene': 'MRE11', 'score': 12.14}, {'connected_gene': 'FGFR3P2', 'score': 11.27}, {'connected_gene': 'CEP57', 'score': 11.24}, {'connected_gene': 'FAM76B', 'score': 10.37}, {'connected_gene': 'LOC101929295', 'score': 5.0}]
chr11 GH11I095697 95697442 95701259 1.12 [{'connected_gene': 'ENSG00000255605', 'score': 550.77}, {'connected_gene': 'CEP57', 'score': 20.97}, {'connected_gene': 'FAM76B', 'score': 12.43}, {'connected_gene': 'LOC101929295', 'score': 11.41}, {'connected_gene': 'SESN3', 'score': 11.3}, {'connected_gene': 'GC11M095720', 'score': 0.29}]
chr11 GH11I095335 95335871 95342243 1.23 [{'connected_gene': 'GC11M095337', 'score': 550.77}, {'connected_gene': 'MRE11', 'score': 22.02}, {'connected_gene': 'FAM76B', 'score': 13.11}, {'connected_gene': 'SESN3', 'score': 11.13}, {'connected_gene': 'ANKRD49', 'score': 11.08}, {'connected_gene': 'LOC101929295', 'score': 11.07}, {'connected_gene': 'FGFR3P2', 'score': 9.86}, {'connected_gene': 'LOC105369439', 'score': 0.13}]
chr11 GH11I096203 96203144 96205905 1.17 [{'connected_gene': 'GC11P096202', 'score': 550.77}, {'connected_gene': 'FAM76B', 'score': 4.06}, {'connected_gene': 'MAML2', 'score': 2.53}, {'connected_gene': 'CCDC82', 'score': 1.88}, {'connected_gene': 'GC11M096338', 'score': 0.12}]

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