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
ENST00000294016 [[4012651, 4016967], [4024669, 4024711], [4027482, 4027631], [4029116, 4029276], [4033232, 4033441], [4038994, 4039097], [4042146, 4042364], [4043406, 4043511], [4057368, 4057559], [4163750, 4165486], [4165690, 4166186]] [[4015775, 4016967], [4024669, 4024711], [4027482, 4027631], [4029116, 4029276], [4033232, 4033441], [4038994, 4039097], [4042146, 4042364], [4043406, 4043511], [4057368, 4057559], [4163750, 4165443]]
ENST00000575550 [[4033392, 4033441], [4038994, 4039097], [4043406, 4043511], [4057368, 4057559], [4065562, 4065683]] None
ENST00000571467 [[4039084, 4039097], [4042146, 4042364], [4043349, 4043511], [4163750, 4163926]] [[4043470, 4043511], [4163750, 4163926]]
ENST00000571889 [[4039089, 4039097], [4042146, 4042271], [4043406, 4043511], [4057368, 4057559], [4104035, 4104191]] None
ENST00000572288 [[4042222, 4042364], [4043349, 4043511], [4057368, 4057559], [4163750, 4164027]] [[4042222, 4042364], [4043349, 4043511], [4057368, 4057559], [4163750, 4164027]]
ENST00000576936 [[4003387, 4003517], [4024669, 4024711], [4027482, 4027631], [4029116, 4029276], [4033232, 4033441], [4038994, 4039001]] [[4003438, 4003517], [4024669, 4024711], [4027482, 4027631], [4029116, 4029276], [4033232, 4033441], [4038994, 4039001]]
ENST00000574721 [[4031773, 4034151]] None
NM_001116 [[4012649, 4016967], [4024669, 4024711], [4027482, 4027631], [4029116, 4029276], [4033232, 4033441], [4038994, 4039097], [4042146, 4042364], [4043406, 4043511], [4057368, 4057559], [4163750, 4165486], [4165690, 4166186]] [[4015775, 4016967], [4024669, 4024711], [4027482, 4027631], [4029116, 4029276], [4033232, 4033441], [4038994, 4039097], [4042146, 4042364], [4043406, 4043511], [4057368, 4057559], [4163750, 4165443]]
Promoter
Chrom Start End Description
chr16 4165817 4165864 CAGE_peak_3_at_ADCY9_5end
chr16 4166362 4166373 CAGE_peak_6_at_ADCY9_5end
chr16 4166405 4166470 CAGE_peak_1_at_ADCY9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I004211 4211823 4222864 1.56 [{'connected_gene': 'SRL', 'score': 24.53}, {'connected_gene': 'ZNF597', 'score': 20.21}, {'connected_gene': 'ZNF200', 'score': 12.28}, {'connected_gene': 'UBN1', 'score': 12.25}, {'connected_gene': 'ZNF263', 'score': 12.14}, {'connected_gene': 'ALG1', 'score': 11.63}, {'connected_gene': 'ADCY9', 'score': 11.46}, {'connected_gene': 'CREBBP', 'score': 10.6}, {'connected_gene': 'ZNF500', 'score': 10.42}, {'connected_gene': 'LINC01569', 'score': 6.11}, {'connected_gene': 'PPL', 'score': 4.79}, {'connected_gene': 'ZNF75A', 'score': 4.56}, {'connected_gene': 'HMOX2', 'score': 4.5}, {'connected_gene': 'GC16P004207', 'score': 0.44}, {'connected_gene': 'GC16P004232', 'score': 0.37}]
chr16 GH16I003998 3998334 4001538 0.96 [{'connected_gene': 'ZNF500', 'score': 12.7}, {'connected_gene': 'ADCY9', 'score': 11.12}, {'connected_gene': 'ENSG00000261938', 'score': 11.09}, {'connected_gene': 'CREBBP', 'score': 10.65}, {'connected_gene': 'NUDT16L1', 'score': 4.83}, {'connected_gene': 'GC16M003975', 'score': 0.34}, {'connected_gene': 'GC16M004019', 'score': 0.31}]
chr16 GH16I003968 3968626 3968973 0.64 [{'connected_gene': 'CREBBP', 'score': 10.44}, {'connected_gene': 'CORO7', 'score': 2.95}, {'connected_gene': 'GC16P003974', 'score': 0.44}, {'connected_gene': 'GC16M003959', 'score': 0.44}, {'connected_gene': 'ADCY9', 'score': 0.11}]
chr16 GH16I003970 3970755 3972220 0.88 [{'connected_gene': 'CREBBP', 'score': 10.43}, {'connected_gene': 'CORO7', 'score': 2.99}, {'connected_gene': 'GC16P003974', 'score': 0.77}, {'connected_gene': 'GC16M003959', 'score': 0.44}, {'connected_gene': 'ADCY9', 'score': 0.11}]
chr16 GH16I004020 4020660 4021959 1.08 [{'connected_gene': 'CREBBP', 'score': 10.87}, {'connected_gene': 'ADCY9', 'score': 10.82}, {'connected_gene': 'C16orf71', 'score': 5.08}, {'connected_gene': 'CDIP1', 'score': 4.47}, {'connected_gene': 'GC16M004019', 'score': 0.77}, {'connected_gene': 'GC16M003975', 'score': 0.26}]
chr16 GH16I004018 4018366 4020311 0.82 [{'connected_gene': 'CREBBP', 'score': 10.88}, {'connected_gene': 'ADCY9', 'score': 10.82}, {'connected_gene': 'C16orf71', 'score': 5.08}, {'connected_gene': 'GC16M004019', 'score': 0.44}, {'connected_gene': 'GC16M003975', 'score': 0.26}]
chr16 GH16I003979 3979795 3981539 0.74 [{'connected_gene': 'CREBBP', 'score': 11.09}, {'connected_gene': 'ADCY9', 'score': 11.02}, {'connected_gene': 'LOC102724927', 'score': 5.03}, {'connected_gene': 'GC16M003975', 'score': 0.77}, {'connected_gene': 'GC16M004019', 'score': 0.26}]
chr16 GH16I003959 3959200 3959601 0.38 [{'connected_gene': 'CREBBP', 'score': 11.33}, {'connected_gene': 'ADCY9', 'score': 10.55}, {'connected_gene': 'GC16M003959', 'score': 0.77}, {'connected_gene': 'LOC102724927', 'score': 0.44}]
chr16 GH16I004019 4017640 4017789 0.2 [{'connected_gene': 'CREBBP', 'score': 10.88}, {'connected_gene': 'ADCY9', 'score': 10.82}, {'connected_gene': 'GC16M004019', 'score': 0.44}, {'connected_gene': 'GC16M003975', 'score': 0.26}]
chr16 GH16I004017 4017890 4018162 0.2 [{'connected_gene': 'CREBBP', 'score': 10.88}, {'connected_gene': 'ADCY9', 'score': 10.82}, {'connected_gene': 'GC16M004019', 'score': 0.44}, {'connected_gene': 'GC16M003975', 'score': 0.26}]
chr16 GH16I004108 4108860 4110137 0.83 [{'connected_gene': 'CREBBP', 'score': 9.56}, {'connected_gene': 'PIR45258', 'score': 0.77}, {'connected_gene': 'GC16M004100', 'score': 0.44}, {'connected_gene': 'ADCY9', 'score': 0.44}]
chr16 GH16I003797 3797792 3799245 0.9 [{'connected_gene': 'CREBBP', 'score': 11.63}, {'connected_gene': 'TRAP1', 'score': 11.2}, {'connected_gene': 'NLRC3', 'score': 9.96}, {'connected_gene': 'ADCY9', 'score': 9.33}, {'connected_gene': 'LOC102724927', 'score': 4.79}, {'connected_gene': 'GC16M003806', 'score': 0.39}, {'connected_gene': 'GC16M003732', 'score': 0.21}]
chr16 GH16I004098 4097667 4099265 0.9 [{'connected_gene': 'ADCY9', 'score': 12.93}, {'connected_gene': 'ZNF205-AS1', 'score': 5.06}, {'connected_gene': 'GC16M004100', 'score': 0.77}, {'connected_gene': 'GC16P004091', 'score': 0.44}, {'connected_gene': 'GC16P004090', 'score': 0.44}]
chr16 GH16I004142 4142340 4142589 0.59 [{'connected_gene': 'ADCY9', 'score': 11.98}, {'connected_gene': 'DBIP3', 'score': 0.39}, {'connected_gene': 'GC16P004158', 'score': 0.37}]
chr16 GH16I004110 4110675 4117321 2.15 [{'connected_gene': 'ADCY9', 'score': 562.58}, {'connected_gene': 'GC16P004115', 'score': 550.77}, {'connected_gene': 'PIR45258', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 9.56}, {'connected_gene': 'SEC14L5', 'score': 4.61}, {'connected_gene': 'GC16M004100', 'score': 0.39}]
chr16 GH16I004051 4051760 4055303 1.21 [{'connected_gene': 'ADCY9', 'score': 20.08}, {'connected_gene': 'CREBBP', 'score': 10.36}, {'connected_gene': 'CORO7', 'score': 2.66}, {'connected_gene': 'GC16M004045', 'score': 0.77}, {'connected_gene': 'GC16P004045', 'score': 0.44}]
chr16 GH16I004228 4228715 4229266 0.2 [{'connected_gene': 'ADCY9', 'score': 11.06}, {'connected_gene': 'CREBBP', 'score': 10.29}, {'connected_gene': 'GC16P004232', 'score': 0.77}, {'connected_gene': 'SRL', 'score': 0.39}, {'connected_gene': 'GC16P004207', 'score': 0.34}]
chr16 GH16I004092 4092620 4095964 1.11 [{'connected_gene': 'ADCY9', 'score': 17.96}, {'connected_gene': 'CREBBP', 'score': 10.26}, {'connected_gene': 'NLRC3', 'score': 9.76}, {'connected_gene': 'SEC14L5', 'score': 4.78}, {'connected_gene': 'GC16P004091', 'score': 0.77}, {'connected_gene': 'GC16P004090', 'score': 0.77}, {'connected_gene': 'GC16M004100', 'score': 0.44}]
chr16 GH16I004010 4010865 4017237 1.37 [{'connected_gene': 'ADCY9', 'score': 10.91}, {'connected_gene': 'CREBBP', 'score': 10.88}, {'connected_gene': 'C16orf71', 'score': 5.07}, {'connected_gene': 'CDIP1', 'score': 4.46}, {'connected_gene': 'CORO7', 'score': 3.41}, {'connected_gene': 'GC16M004019', 'score': 0.39}, {'connected_gene': 'GC16M003975', 'score': 0.28}]
chr16 GH16I004081 4081880 4082021 0.38 [{'connected_gene': 'ADCY9', 'score': 11.74}, {'connected_gene': 'CREBBP', 'score': 10.31}, {'connected_gene': 'GC16P004091', 'score': 0.44}, {'connected_gene': 'GC16P004090', 'score': 0.44}, {'connected_gene': 'GC16P004069', 'score': 0.39}]
chr16 GH16I004080 4080763 4081845 0.46 [{'connected_gene': 'ADCY9', 'score': 11.74}, {'connected_gene': 'CREBBP', 'score': 10.31}, {'connected_gene': 'GC16P004091', 'score': 0.44}, {'connected_gene': 'GC16P004090', 'score': 0.44}, {'connected_gene': 'GC16P004069', 'score': 0.39}]
chr16 GH16I004064 4064197 4065622 0.79 [{'connected_gene': 'ADCY9', 'score': 30.8}, {'connected_gene': 'CREBBP', 'score': 10.56}, {'connected_gene': 'GC16P004069', 'score': 0.77}, {'connected_gene': 'GC16M004045', 'score': 0.44}]
chr16 GH16I004203 4203930 4205042 0.51 [{'connected_gene': 'ADCY9', 'score': 11.04}, {'connected_gene': 'TRAP1', 'score': 10.11}, {'connected_gene': 'GC16P004207', 'score': 0.77}, {'connected_gene': 'LOC105371062', 'score': 0.34}, {'connected_gene': 'SRL', 'score': 0.28}]
chr16 GH16I004097 4097201 4097400 0.2 [{'connected_gene': 'ADCY9', 'score': 5.86}, {'connected_gene': 'GC16M004100', 'score': 0.77}, {'connected_gene': 'GC16P004091', 'score': 0.44}, {'connected_gene': 'GC16P004090', 'score': 0.44}]
chr16 GH16I004059 4059334 4061016 0.56 [{'connected_gene': 'ADCY9', 'score': 30.11}, {'connected_gene': 'GC16M004045', 'score': 0.77}, {'connected_gene': 'GC16P004069', 'score': 0.44}]
chr16 GH16I004139 4139845 4141667 0.85 [{'connected_gene': 'MTCO1P28', 'score': 29.52}, {'connected_gene': 'ANKS3', 'score': 20.56}, {'connected_gene': 'CLUAP1', 'score': 20.01}, {'connected_gene': 'GLIS2-AS1', 'score': 12.49}, {'connected_gene': 'ADCY9', 'score': 12.01}, {'connected_gene': 'TIGD7', 'score': 11.2}, {'connected_gene': 'ZNF75A', 'score': 9.98}, {'connected_gene': 'DBIP3', 'score': 0.39}, {'connected_gene': 'GC16P004158', 'score': 0.37}]
chr16 GH16I003948 3948816 3953049 1.16 [{'connected_gene': 'LOC102724927', 'score': 562.61}, {'connected_gene': 'ZNF75A', 'score': 18.65}, {'connected_gene': 'ZNF500', 'score': 18.08}, {'connected_gene': 'ENSG00000261938', 'score': 17.27}, {'connected_gene': 'ZNF263', 'score': 16.31}, {'connected_gene': 'ZNF213-AS1', 'score': 13.65}, {'connected_gene': 'ANKS3', 'score': 12.35}, {'connected_gene': 'CREBBP', 'score': 11.16}, {'connected_gene': 'ZSCAN32', 'score': 11.15}, {'connected_gene': 'ADCY9', 'score': 10.71}, {'connected_gene': 'ZNF205', 'score': 10.13}, {'connected_gene': 'ZNF597', 'score': 9.67}, {'connected_gene': 'ENSG00000262888', 'score': 6.97}, {'connected_gene': 'ZNF200', 'score': 5.84}, {'connected_gene': 'GC16M003959', 'score': 0.39}]
chr16 GH16I003954 3954740 3954861 0.8 [{'connected_gene': 'TRAP1', 'score': 10.5}, {'connected_gene': 'LOC102724927', 'score': 0.77}, {'connected_gene': 'GC16M003959', 'score': 0.44}, {'connected_gene': 'ADCY9', 'score': 0.1}]
chr16 GH16I004135 4135650 4137568 1.27 [{'connected_gene': 'ZNF263', 'score': 17.36}, {'connected_gene': 'ZNF500', 'score': 14.89}, {'connected_gene': 'ADCY9', 'score': 12.01}, {'connected_gene': 'CREBBP', 'score': 10.88}, {'connected_gene': 'ZNF174', 'score': 10.72}, {'connected_gene': 'ZNF75A', 'score': 10.5}, {'connected_gene': 'ZSCAN32', 'score': 10.05}, {'connected_gene': 'ENSG00000261938', 'score': 9.77}, {'connected_gene': 'DBIP3', 'score': 0.44}, {'connected_gene': 'GC16P004158', 'score': 0.34}]
chr16 GH16I004044 4044035 4045509 0.85 [{'connected_gene': 'GC16P004045', 'score': 550.77}, {'connected_gene': 'GLIS2', 'score': 4.66}, {'connected_gene': 'ZNF205-AS1', 'score': 4.61}, {'connected_gene': 'GC16P004034', 'score': 0.44}, {'connected_gene': 'GC16M004045', 'score': 0.39}, {'connected_gene': 'ADCY9', 'score': 0.19}]
chr16 GH16I003960 3960028 3961825 1.51 [{'connected_gene': 'GC16M003959', 'score': 550.77}, {'connected_gene': 'SRL', 'score': 16.61}, {'connected_gene': 'CREBBP', 'score': 11.32}, {'connected_gene': 'ADCY9', 'score': 10.55}, {'connected_gene': 'PPL', 'score': 5.93}, {'connected_gene': 'TNFRSF12A', 'score': 4.79}, {'connected_gene': 'CORO7', 'score': 3.58}, {'connected_gene': 'LOC102724927', 'score': 0.39}]
chr16 GH16I003962 3962498 3963766 1.12 [{'connected_gene': 'GC16M003959', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 11.12}, {'connected_gene': 'ENSG00000262888', 'score': 6.0}, {'connected_gene': 'GC16P003974', 'score': 0.39}, {'connected_gene': 'ADCY9', 'score': 0.1}]
chr16 GH16I004091 4091358 4092358 0.49 [{'connected_gene': 'GC16P004091', 'score': 550.77}, {'connected_gene': 'GC16P004090', 'score': 550.77}, {'connected_gene': 'ADCY9', 'score': 17.96}, {'connected_gene': 'NLRC3', 'score': 9.76}, {'connected_gene': 'GC16M004100', 'score': 0.39}]
chr16 GH16I004089 4089054 4090900 0.72 [{'connected_gene': 'GC16P004091', 'score': 550.77}, {'connected_gene': 'GC16P004090', 'score': 550.77}, {'connected_gene': 'ADCY9', 'score': 21.97}, {'connected_gene': 'CREBBP', 'score': 10.43}, {'connected_gene': 'TRAP1', 'score': 9.65}, {'connected_gene': 'GC16P004069', 'score': 0.34}]
chr16 GH16I004057 4057341 4058014 0.2 [{'connected_gene': 'GC16M004045', 'score': 550.77}, {'connected_gene': 'ADCY9', 'score': 27.72}, {'connected_gene': 'CREBBP', 'score': 10.36}, {'connected_gene': 'GC16P004069', 'score': 0.39}]
chr16 GH16I004157 4157111 4158115 0.79 [{'connected_gene': 'GC16P004158', 'score': 550.77}, {'connected_gene': 'ADCY9', 'score': 11.07}, {'connected_gene': 'LOC105371062', 'score': 5.94}, {'connected_gene': 'DBIP3', 'score': 0.31}]
chr16 GH16I004058 4058500 4058649 0.46 [{'connected_gene': 'GC16M004045', 'score': 550.77}, {'connected_gene': 'ADCY9', 'score': 11.59}, {'connected_gene': 'LOC105371062', 'score': 5.21}, {'connected_gene': 'GC16P004069', 'score': 0.39}]
chr16 GH16I004205 4205499 4211396 1.06 [{'connected_gene': 'GC16P004207', 'score': 550.77}, {'connected_gene': 'ADCY9', 'score': 11.18}, {'connected_gene': 'TRAP1', 'score': 10.11}, {'connected_gene': 'LINC01569', 'score': 5.9}, {'connected_gene': 'SRL', 'score': 5.64}, {'connected_gene': 'PPL', 'score': 5.06}, {'connected_gene': 'HMOX2', 'score': 5.01}, {'connected_gene': 'GC16P004232', 'score': 0.34}]
chr16 GH16I004102 4101880 4102029 0.2 [{'connected_gene': 'GC16M004100', 'score': 550.77}, {'connected_gene': 'ADCY9', 'score': 0.39}, {'connected_gene': 'GC16P004091', 'score': 0.39}, {'connected_gene': 'GC16P004090', 'score': 0.39}]
chr16 GH16I004101 4101580 4101749 0.2 [{'connected_gene': 'GC16M004100', 'score': 550.77}, {'connected_gene': 'ADCY9', 'score': 5.21}, {'connected_gene': 'GC16P004091', 'score': 0.39}, {'connected_gene': 'GC16P004090', 'score': 0.39}]
chr16 GH16I003983 3983120 3983289 0.8 [{'connected_gene': 'GC16M003975', 'score': 0.44}, {'connected_gene': 'GC16M004019', 'score': 0.26}, {'connected_gene': 'ADCY9', 'score': 0.12}]
chr16 GH16I003984 3983329 3983617 0.8 [{'connected_gene': 'GC16M003975', 'score': 0.44}, {'connected_gene': 'GC16M004019', 'score': 0.26}, {'connected_gene': 'ADCY9', 'score': 0.12}]
chr16 GH16I004029 4029300 4030466 0.2 [{'connected_gene': 'ENSG00000263159', 'score': 0.77}, {'connected_gene': 'GC16M004019', 'score': 0.77}, {'connected_gene': 'ADCY9', 'score': 0.17}]
chr16 GH16I004032 4032601 4033589 0.72 [{'connected_gene': 'ENSG00000263159', 'score': 550.77}, {'connected_gene': 'GC16P004034', 'score': 550.77}, {'connected_gene': 'ADCY9', 'score': 0.18}]
chr16 GH16I004230 4230623 4236700 0.63 [{'connected_gene': 'GC16M004233', 'score': 550.77}, {'connected_gene': 'GC16P004232', 'score': 550.77}, {'connected_gene': 'ENSG00000261938', 'score': 17.49}, {'connected_gene': 'ZNF263', 'score': 14.09}, {'connected_gene': 'ZNF500', 'score': 14.0}, {'connected_gene': 'ZNF75A', 'score': 11.45}, {'connected_gene': 'ADCY9', 'score': 10.86}, {'connected_gene': 'LINC01569', 'score': 10.75}, {'connected_gene': 'CREBBP', 'score': 10.26}, {'connected_gene': 'GC16M004240', 'score': 0.44}, {'connected_gene': 'SRL', 'score': 0.44}]

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