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
ENST00000603302 [[108910869, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108953482, 108953533], [108954331, 108954448], [108955394, 108956330]] [[108911088, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108953482, 108953533], [108954331, 108954448], [108955394, 108955513]]
ENST00000403312 [[108910869, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108953482, 108953533], [108954331, 108954448], [108955394, 108956331]] [[108910911, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108953482, 108953533], [108954331, 108954448], [108955394, 108955513]]
ENST00000309522 [[108910939, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108956331]] [[108911088, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108955513]]
ENST00000511742 [[108911010, 108911220], [108925819, 108926073], [108926383, 108926490]] [[108911088, 108911220], [108925819, 108925846]]
ENST00000505878 [[108911057, 108911220], [108925819, 108926073], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108956327]] [[108925929, 108926073], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108955513]]
ENST00000454409 [[108925790, 108926073], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108956327]] [[108925929, 108926073], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108955513]]
ENST00000507260 [[108935625, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108949090]] None
ENST00000510728 [[108948667, 108948916], [108949094, 108949225], [108954331, 108954448], [108955394, 108955648]] None
ENST00000515462 [[108948870, 108949225], [108954331, 108954448], [108955394, 108955648]] None
ENST00000514776 [[108954155, 108954448], [108955394, 108955648]] None
NM_005327 [[108910869, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108956331]] [[108911088, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108955513]]
NM_001184705 [[108910869, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108953482, 108953533], [108954331, 108954448], [108955394, 108956331]] [[108911088, 108911220], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108953482, 108953533], [108954331, 108954448], [108955394, 108955513]]
NM_001331027 [[108925819, 108926073], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108956331]] [[108925929, 108926073], [108930914, 108931043], [108935586, 108935744], [108940695, 108940822], [108944629, 108944719], [108948843, 108948916], [108954331, 108954448], [108955394, 108955513]]
Promoter
Chrom Start End Description
chr4 108910972 108910975 CAGE_peak_3_at_HADH_5end
chr4 108910976 108911029 CAGE_peak_1_at_HADH_5end
chr4 108911036 108911065 CAGE_peak_2_at_HADH_5end
chr4 108925759 108925771 CAGE_peak_8_at_HADH_5end
chr4 108925787 108925797 CAGE_peak_7_at_HADH_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I108073 108073973 108076466 0.43 [{'connected_gene': 'RPL34', 'score': 9.82}, {'connected_gene': 'RPL34-AS1', 'score': 9.82}, {'connected_gene': 'HADH', 'score': 4.17}, {'connected_gene': 'GC04M107959', 'score': 0.28}, {'connected_gene': 'GC04P108129', 'score': 0.23}, {'connected_gene': 'LEF1', 'score': 0.16}]
chr4 GH04I108029 108029445 108029594 0.51 [{'connected_gene': 'RPL34', 'score': 9.71}, {'connected_gene': 'RPL34-AS1', 'score': 9.71}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P107997', 'score': 0.29}, {'connected_gene': 'HADH', 'score': 0.28}]
chr4 GH04I108071 108071310 108073812 0.92 [{'connected_gene': 'RPL34', 'score': 9.82}, {'connected_gene': 'RPL34-AS1', 'score': 9.82}, {'connected_gene': 'CYP2U1', 'score': 8.97}, {'connected_gene': 'HADH', 'score': 5.57}, {'connected_gene': 'GC04M107959', 'score': 0.29}, {'connected_gene': 'GC04P108129', 'score': 0.22}, {'connected_gene': 'LEF1', 'score': 0.15}]
chr4 GH04I108066 108066100 108067047 0.2 [{'connected_gene': 'LEF1', 'score': 11.04}, {'connected_gene': 'LEF1-AS1', 'score': 11.04}, {'connected_gene': 'HADH', 'score': 5.93}, {'connected_gene': 'GC04M107959', 'score': 0.31}, {'connected_gene': 'GC04P108129', 'score': 0.21}]
chr4 GH04I108142 108142908 108145114 0.57 [{'connected_gene': 'LEF1', 'score': 12.02}, {'connected_gene': 'LEF1-AS1', 'score': 12.02}, {'connected_gene': 'ENSG00000249604', 'score': 5.48}, {'connected_gene': 'HADH', 'score': 4.16}, {'connected_gene': 'GC04P108129', 'score': 0.39}]
chr4 GH04I108105 108105944 108119845 1.67 [{'connected_gene': 'LEF1', 'score': 16.88}, {'connected_gene': 'ENSG00000249604', 'score': 15.75}, {'connected_gene': 'LEF1-AS1', 'score': 12.18}, {'connected_gene': 'CYP2U1', 'score': 6.51}, {'connected_gene': 'HADH', 'score': 4.23}, {'connected_gene': 'GC04P108129', 'score': 0.37}, {'connected_gene': 'GC04M107959', 'score': 0.18}]
chr4 GH04I108164 108164224 108169574 2.16 [{'connected_gene': 'LEF1', 'score': 550.77}, {'connected_gene': 'LEF1-AS1', 'score': 550.77}, {'connected_gene': 'CYP2U1', 'score': 8.64}, {'connected_gene': 'HADH', 'score': 4.91}, {'connected_gene': 'GC04P108129', 'score': 0.28}]
chr4 GH04I108140 108140209 108142627 1.29 [{'connected_gene': 'LEF1', 'score': 11.99}, {'connected_gene': 'LEF1-AS1', 'score': 11.99}, {'connected_gene': 'CYP2U1', 'score': 4.35}, {'connected_gene': 'HADH', 'score': 4.16}, {'connected_gene': 'GC04P108129', 'score': 0.39}]
chr4 GH04I108032 108032089 108032812 0.2 [{'connected_gene': 'HADH', 'score': 10.84}, {'connected_gene': 'RPL34', 'score': 9.82}, {'connected_gene': 'RPL34-AS1', 'score': 9.82}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P107997', 'score': 0.28}]
chr4 GH04I108171 108171390 108174088 1.6 [{'connected_gene': 'HADH', 'score': 4.19}, {'connected_gene': 'GC04P108177', 'score': 0.77}, {'connected_gene': 'LEF1', 'score': 0.77}, {'connected_gene': 'PIR33250', 'score': 0.77}, {'connected_gene': 'LEF1-AS1', 'score': 0.44}, {'connected_gene': 'GC04P108129', 'score': 0.26}]
chr4 GH04I108058 108058743 108059845 0.72 [{'connected_gene': 'HADH', 'score': 4.73}, {'connected_gene': 'GC04M107959', 'score': 0.34}, {'connected_gene': 'GC04P108129', 'score': 0.19}, {'connected_gene': 'LEF1', 'score': 0.14}]
chr4 GH04I108046 108046817 108048042 0.2 [{'connected_gene': 'HADH', 'score': 7.34}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P108129', 'score': 0.18}, {'connected_gene': 'LEF1', 'score': 0.13}]
chr4 GH04I108008 108008337 108009531 0.86 [{'connected_gene': 'HADH', 'score': 12.17}, {'connected_gene': 'LOC101929595', 'score': 10.9}, {'connected_gene': 'RPL34', 'score': 9.62}, {'connected_gene': 'RPL34-AS1', 'score': 9.62}, {'connected_gene': 'GC04P107997', 'score': 0.39}, {'connected_gene': 'GC04M107959', 'score': 0.31}]
chr4 GH04I108030 108029771 108031648 0.86 [{'connected_gene': 'HADH', 'score': 16.87}, {'connected_gene': 'LOC101929595', 'score': 10.42}, {'connected_gene': 'RPL34', 'score': 9.82}, {'connected_gene': 'RPL34-AS1', 'score': 9.82}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P107997', 'score': 0.29}]
chr4 GH04I107937 107937201 107937600 0.2 [{'connected_gene': 'HADH', 'score': 10.42}, {'connected_gene': 'LOC101929595', 'score': 10.3}, {'connected_gene': 'ENSG00000249604', 'score': 0.77}, {'connected_gene': 'CYP2U1', 'score': 0.44}]
chr4 GH04I108018 108018705 108018874 0.82 [{'connected_gene': 'HADH', 'score': 17.52}, {'connected_gene': 'LOC101929595', 'score': 11.28}, {'connected_gene': 'GC04M107959', 'score': 0.37}, {'connected_gene': 'GC04P107997', 'score': 0.34}]
chr4 GH04I107964 107964239 107964327 0.22 [{'connected_gene': 'HADH', 'score': 11.71}, {'connected_gene': 'LOC101929595', 'score': 0.39}, {'connected_gene': 'ENSG00000249604', 'score': 0.34}, {'connected_gene': 'GC04M107959', 'score': 0.19}]
chr4 GH04I108044 108044561 108044820 0.2 [{'connected_gene': 'HADH', 'score': 11.56}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P108129', 'score': 0.18}]
chr4 GH04I108033 108033240 108034555 0.2 [{'connected_gene': 'HADH', 'score': 22.16}, {'connected_gene': 'ENSG00000249604', 'score': 4.7}, {'connected_gene': 'GC04M107959', 'score': 0.77}, {'connected_gene': 'GC04P107997', 'score': 0.28}]
chr4 GH04I108045 108045376 108046624 0.69 [{'connected_gene': 'HADH', 'score': 6.17}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P108129', 'score': 0.18}]
chr4 GH04I108043 108043498 108043849 0.58 [{'connected_gene': 'HADH', 'score': 7.35}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P108129', 'score': 0.17}]
chr4 GH04I108036 108035153 108035591 0.2 [{'connected_gene': 'HADH', 'score': 17.33}, {'connected_gene': 'GC04M107959', 'score': 0.77}, {'connected_gene': 'GC04P107997', 'score': 0.28}]
chr4 GH04I108039 108039747 108040463 0.2 [{'connected_gene': 'HADH', 'score': 11.56}, {'connected_gene': 'GC04M107959', 'score': 0.77}, {'connected_gene': 'GC04P108129', 'score': 0.17}]
chr4 GH04I108034 108034594 108035071 0.2 [{'connected_gene': 'HADH', 'score': 10.82}, {'connected_gene': 'GC04M107959', 'score': 0.77}, {'connected_gene': 'GC04P107997', 'score': 0.28}]
chr4 GH04I108015 108015417 108017175 0.2 [{'connected_gene': 'HADH', 'score': 20.27}, {'connected_gene': 'GC04P107997', 'score': 0.37}, {'connected_gene': 'GC04M107959', 'score': 0.34}]
chr4 GH04I107987 107987987 107991826 2.4 [{'connected_gene': 'HADH', 'score': 562.59}, {'connected_gene': 'GC04P107997', 'score': 0.44}, {'connected_gene': 'GC04M107959', 'score': 0.25}]
chr4 GH04I107861 107861378 107864700 1.36 [{'connected_gene': 'SGMS2', 'score': 7.05}, {'connected_gene': 'HADH', 'score': 4.63}, {'connected_gene': 'RNU6-733P', 'score': 0.77}, {'connected_gene': 'LOC101929595', 'score': 0.13}]
chr4 GH04I108085 108085200 108090442 0.38 [{'connected_gene': 'CYP2U1', 'score': 5.74}, {'connected_gene': 'HADH', 'score': 4.23}, {'connected_gene': 'GC04P108129', 'score': 0.26}, {'connected_gene': 'GC04M107959', 'score': 0.23}, {'connected_gene': 'LEF1', 'score': 0.18}]
chr4 GH04I107971 107971557 107973893 0.38 [{'connected_gene': 'CYP2U1', 'score': 11.26}, {'connected_gene': 'HADH', 'score': 6.98}, {'connected_gene': 'LOC101929595', 'score': 0.44}, {'connected_gene': 'ENSG00000249604', 'score': 0.29}, {'connected_gene': 'GC04M107959', 'score': 0.21}]
chr4 GH04I108051 108051797 108054258 0.69 [{'connected_gene': 'CYP2U1', 'score': 10.27}, {'connected_gene': 'LOC101929595', 'score': 10.1}, {'connected_gene': 'HADH', 'score': 9.27}, {'connected_gene': 'GC04M107959', 'score': 0.37}, {'connected_gene': 'GC04P108129', 'score': 0.18}, {'connected_gene': 'LEF1', 'score': 0.13}]
chr4 GH04I108049 108049102 108050106 0.4 [{'connected_gene': 'LOC101929595', 'score': 10.1}, {'connected_gene': 'HADH', 'score': 7.59}, {'connected_gene': 'GC04M107959', 'score': 0.39}, {'connected_gene': 'GC04P108129', 'score': 0.18}, {'connected_gene': 'LEF1', 'score': 0.13}]
chr4 GH04I108003 108003041 108005233 0.52 [{'connected_gene': 'LOC101929595', 'score': 10.84}, {'connected_gene': 'HADH', 'score': 7.78}, {'connected_gene': 'CYP2U1', 'score': 6.52}, {'connected_gene': 'GC04P107997', 'score': 0.44}, {'connected_gene': 'GC04M107959', 'score': 0.29}]
chr4 GH04I107976 107976150 107980106 0.75 [{'connected_gene': 'LOC101929595', 'score': 550.77}, {'connected_gene': 'CYP2U1', 'score': 22.76}, {'connected_gene': 'HADH', 'score': 9.64}, {'connected_gene': 'ENSG00000249604', 'score': 0.28}, {'connected_gene': 'GC04M107959', 'score': 0.22}]
chr4 GH04I108125 108125257 108130832 0.46 [{'connected_gene': 'GC04P108129', 'score': 550.77}, {'connected_gene': 'LEF1-AS1', 'score': 11.7}, {'connected_gene': 'LEF1', 'score': 11.68}, {'connected_gene': 'CYP2U1', 'score': 6.21}, {'connected_gene': 'ENSG00000249604', 'score': 5.8}, {'connected_gene': 'HADH', 'score': 4.3}, {'connected_gene': 'GC04M107959', 'score': 0.16}]
chr4 GH04I108149 108149481 108153854 0.31 [{'connected_gene': 'ENSG00000249604', 'score': 4.48}, {'connected_gene': 'HADH', 'score': 4.15}, {'connected_gene': 'LEF1', 'score': 0.37}, {'connected_gene': 'LEF1-AS1', 'score': 0.37}, {'connected_gene': 'GC04P108129', 'score': 0.34}]
chr4 GH04I108035 108035620 108037618 0.94 [{'connected_gene': 'GC04M107959', 'score': 550.77}, {'connected_gene': 'HADH', 'score': 21.9}, {'connected_gene': 'GC04P107997', 'score': 0.28}]
chr4 GH04I107996 107996003 107999041 0.83 [{'connected_gene': 'GC04P107997', 'score': 550.77}, {'connected_gene': 'ENSG00000249604', 'score': 10.44}, {'connected_gene': 'HADH', 'score': 6.95}, {'connected_gene': 'GC04M107959', 'score': 0.26}]
chr4 GH04I107994 107994001 107994200 0.77 [{'connected_gene': 'GC04P107997', 'score': 0.77}, {'connected_gene': 'HADH', 'score': 0.77}, {'connected_gene': 'GC04M107959', 'score': 0.26}]
chr4 GH04I108037 108037832 108039298 0.2 [{'connected_gene': 'GC04M107959', 'score': 550.77}, {'connected_gene': 'HADH', 'score': 17.4}, {'connected_gene': 'GC04P108129', 'score': 0.16}]
chr4 GH04I107995 107995085 107995205 0.89 [{'connected_gene': 'GC04P107997', 'score': 550.77}, {'connected_gene': 'ENSG00000249604', 'score': 10.45}, {'connected_gene': 'HADH', 'score': 6.91}, {'connected_gene': 'GC04M107959', 'score': 0.26}]
chr4 GH04I108027 108027153 108028043 0.31 [{'connected_gene': 'GC04M107959', 'score': 0.39}, {'connected_gene': 'GC04P107997', 'score': 0.29}, {'connected_gene': 'HADH', 'score': 0.28}]

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