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
ENST00000361524 [[22641889, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807661], [22901971, 22902151], [22930870, 22930911], [22931968, 22932116]] [[22642675, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807661], [22901971, 22902151]]
ENST00000584787 [[22642388, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807661], [22901971, 22902151], [22931968, 22932112]] [[22642675, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807221]]
ENST00000399425 [[22642414, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22803999, 22804079], [22804308, 22807661], [22901971, 22902151], [22930870, 22930911], [22931968, 22932035]] [[22775126, 22775208], [22803999, 22804079], [22804308, 22807661], [22901971, 22902151]]
ENST00000538137 [[22642556, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807661], [22901971, 22902151], [22930870, 22930957], [22931968, 22932119]] [[22642675, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807661], [22901971, 22902151], [22930870, 22930910]]
ENST00000577775 [[22716681, 22716703], [22775123, 22775208], [22804308, 22804753]] [[22716681, 22716703], [22775123, 22775208], [22804308, 22804753]]
ENST00000577720 [[22807166, 22807661], [22811434, 22811494]] [[22807166, 22807661], [22811434, 22811494]]
ENST00000577801 [[22807207, 22807661], [22901971, 22902151], [22930870, 22930911], [22931692, 22931711]] [[22807207, 22807661], [22901971, 22902151]]
ENST00000581869 [[22807351, 22807661], [22853433, 22853559], [22881903, 22881998]] None
ENST00000580488 [[22807449, 22807661], [22901971, 22902151], [22930870, 22930911], [22931465, 22931579]] [[22807449, 22807661], [22901971, 22902151]]
ENST00000583005 [[22807550, 22807661], [22901971, 22902151], [22907369, 22907412], [22930870, 22930911], [22931968, 22932134]] None
ENST00000579111 [[22807570, 22807661], [22901971, 22902151], [22925215, 22925311], [22930870, 22930911], [22931968, 22932154]] None
ENST00000583398 [[22807583, 22807661], [22901971, 22902299]] None
ENST00000582584 [[22895487, 22895752], [22901971, 22902151], [22931968, 22932113]] None
ENST00000577461 [[22902100, 22902151], [22930870, 22931157]] [[22902100, 22902151], [22930870, 22930910]]
NM_015461 [[22641887, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807661], [22901971, 22902151], [22930870, 22930911], [22931968, 22932214]] [[22642675, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807661], [22901971, 22902151]]
NM_001308225 [[22641887, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807661], [22901971, 22902151], [22931968, 22932214]] [[22642675, 22642705], [22669428, 22669544], [22671913, 22672045], [22775123, 22775208], [22804308, 22807221]]
Promoter
Chrom Start End Description
chr18 22804637 22804660 CAGE_peak_10_at_ZNF521_5end
chr18 22805268 22805280 CAGE_peak_8_at_ZNF521_5end
chr18 22931979 22931992 CAGE_peak_3_at_ZNF521_5end
chr18 22932004 22932021 CAGE_peak_2_at_ZNF521_5end
chr18 22932080 22932170 CAGE_peak_1_at_ZNF521_5end
chr18 22932173 22932180 CAGE_peak_7_at_ZNF521_5end
chr18 22932208 22932219 CAGE_peak_6_at_ZNF521_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I025297 25297894 25300355 1.25 [{'connected_gene': 'SS18', 'score': 20.41}, {'connected_gene': 'ENSG00000264434', 'score': 0.77}, {'connected_gene': 'ZNF521', 'score': 0.23}, {'connected_gene': 'LOC105372031', 'score': 0.2}]
chr18 GH18I025227 25227532 25234827 2.35 [{'connected_gene': 'ZNF521', 'score': 3.17}, {'connected_gene': 'LOC105372031', 'score': 0.77}, {'connected_gene': 'PIR39460', 'score': 0.77}]
chr18 GH18I025308 25308190 25308213 0.34 [{'connected_gene': 'ZNF521', 'score': 3.61}, {'connected_gene': 'ENSG00000264434', 'score': 0.44}, {'connected_gene': 'GC18P025328', 'score': 0.37}]
chr18 GH18I025096 25096592 25098001 0.86 [{'connected_gene': 'ZNF521', 'score': 2.01}, {'connected_gene': 'GC18P025072', 'score': 0.34}, {'connected_gene': 'GC18P025138', 'score': 0.26}]
chr18 GH18I025348 25348166 25353200 2.75 [{'connected_gene': 'ZNF521', 'score': 550.77}, {'connected_gene': 'GC18M025315', 'score': 0.44}, {'connected_gene': 'GC18M025333', 'score': 0.37}]
chr18 GH18I025345 25345517 25345666 0.63 [{'connected_gene': 'ZNF521', 'score': 0.44}, {'connected_gene': 'GC18M025333', 'score': 0.39}, {'connected_gene': 'GC18M025315', 'score': 0.39}]
chr18 GH18I025150 25150622 25150847 0.22 [{'connected_gene': 'ZNF521', 'score': 1.47}, {'connected_gene': 'GC18P025147', 'score': 0.77}, {'connected_gene': 'GC18P025166', 'score': 0.39}]
chr18 GH18I025247 25247566 25248460 0.84 [{'connected_gene': 'LOC105372031', 'score': 0.39}, {'connected_gene': 'ENSG00000264434', 'score': 0.23}, {'connected_gene': 'ZNF521', 'score': 0.15}]
chr18 GH18I025263 25263057 25263206 0.2 [{'connected_gene': 'LOC105372031', 'score': 0.31}, {'connected_gene': 'ENSG00000264434', 'score': 0.28}, {'connected_gene': 'ZNF521', 'score': 0.17}]
chr18 GH18I025235 25235127 25235906 0.72 [{'connected_gene': 'LOC105372031', 'score': 550.77}, {'connected_gene': 'ENSG00000264434', 'score': 0.2}, {'connected_gene': 'ZNF521', 'score': 0.13}]
chr18 GH18I025241 25241912 25242195 0.4 [{'connected_gene': 'LOC105372031', 'score': 0.44}, {'connected_gene': 'ENSG00000264434', 'score': 0.21}, {'connected_gene': 'ZNF521', 'score': 0.14}]
chr18 GH18I025243 25243796 25245346 0.38 [{'connected_gene': 'LOC105372031', 'score': 0.39}, {'connected_gene': 'ENSG00000264434', 'score': 0.22}, {'connected_gene': 'ZNF521', 'score': 0.14}]
chr18 GH18I025250 25250513 25251603 0.4 [{'connected_gene': 'LOC105372031', 'score': 0.37}, {'connected_gene': 'ENSG00000264434', 'score': 0.23}, {'connected_gene': 'ZNF521', 'score': 0.15}]
chr18 GH18I025248 25248557 25248706 0.51 [{'connected_gene': 'LOC105372031', 'score': 0.39}, {'connected_gene': 'ENSG00000264434', 'score': 0.23}, {'connected_gene': 'ZNF521', 'score': 0.15}]
chr18 GH18I025237 25237481 25238076 0.2 [{'connected_gene': 'LOC105372031', 'score': 0.77}, {'connected_gene': 'ENSG00000264434', 'score': 0.21}, {'connected_gene': 'ZNF521', 'score': 0.14}]
chr18 GH18I025238 25238894 25240924 1.3 [{'connected_gene': 'LOC105372031', 'score': 0.44}, {'connected_gene': 'ENSG00000264434', 'score': 0.21}, {'connected_gene': 'ZNF521', 'score': 0.14}]
chr18 GH18I025163 25163710 25166387 1.57 [{'connected_gene': 'GC18P025166', 'score': 550.77}, {'connected_gene': 'GC18P025165', 'score': 550.77}, {'connected_gene': 'ZNF521', 'score': 10.05}, {'connected_gene': 'GC18P025147', 'score': 0.37}, {'connected_gene': 'GC18M025153', 'score': 0.29}]
chr18 GH18I025326 25326027 25328398 1.24 [{'connected_gene': 'GC18P025328', 'score': 550.77}, {'connected_gene': 'ZNF521', 'score': 0.31}, {'connected_gene': 'ENSG00000264434', 'score': 0.31}, {'connected_gene': 'GC18M025315', 'score': 0.29}]
chr18 GH18I025311 25311037 25311186 0.51 [{'connected_gene': 'ENSG00000264434', 'score': 0.44}, {'connected_gene': 'GC18P025328', 'score': 0.37}, {'connected_gene': 'ZNF521', 'score': 0.26}]
chr18 GH18I025214 25214731 25215510 0.2 [{'connected_gene': 'ENSG00000279439', 'score': 0.39}, {'connected_gene': 'PIR39460', 'score': 0.39}, {'connected_gene': 'ZNF521', 'score': 0.12}]
chr18 GH18I025112 25112452 25113676 0.8 [{'connected_gene': 'GC18P025138', 'score': 0.31}, {'connected_gene': 'GC18P025072', 'score': 0.26}, {'connected_gene': 'ZNF521', 'score': 0.07}]
chr18 GH18I025141 25139903 25140142 0.2 [{'connected_gene': 'GC18P025138', 'score': 550.77}, {'connected_gene': 'GC18P025147', 'score': 0.44}, {'connected_gene': 'ZNF521', 'score': 0.08}]
chr18 GH18I025092 25092892 25093870 0.31 [{'connected_gene': 'GC18P025072', 'score': 0.34}, {'connected_gene': 'GC18P025138', 'score': 0.26}, {'connected_gene': 'ZNF521', 'score': 0.07}]
chr18 GH18I025225 25225201 25225800 0.58 [{'connected_gene': 'PIR39460', 'score': 550.77}, {'connected_gene': 'ENSG00000279439', 'score': 0.34}, {'connected_gene': 'ZNF521', 'score': 0.13}]
chr18 GH18I025174 25174705 25174975 0.4 [{'connected_gene': 'GC18P025165', 'score': 0.44}, {'connected_gene': 'GC18P025187', 'score': 0.39}, {'connected_gene': 'GC18M025153', 'score': 0.34}, {'connected_gene': 'ZNF521', 'score': 0.1}]
chr18 GH18I025191 25191453 25191696 0.4 [{'connected_gene': 'GC18P025192', 'score': 550.77}, {'connected_gene': 'GC18P025187', 'score': 0.77}, {'connected_gene': 'GC18M025153', 'score': 0.44}, {'connected_gene': 'ZNF521', 'score': 0.1}]
chr18 GH18I025133 25133497 25134292 0.38 [{'connected_gene': 'GC18P025138', 'score': 0.77}, {'connected_gene': 'GC18P025072', 'score': 0.21}, {'connected_gene': 'ZNF521', 'score': 0.08}]
chr18 GH18I025089 25089991 25090406 0.4 [{'connected_gene': 'GC18P025072', 'score': 0.37}, {'connected_gene': 'GC18P025138', 'score': 0.25}, {'connected_gene': 'ZNF521', 'score': 0.07}]
chr18 GH18I025099 25099937 25100086 0.46 [{'connected_gene': 'GC18P025072', 'score': 0.31}, {'connected_gene': 'GC18P025138', 'score': 0.28}, {'connected_gene': 'ZNF521', 'score': 0.07}]
chr18 GH18I025068 25068522 25069138 0.51 [{'connected_gene': 'GC18P025072', 'score': 0.77}, {'connected_gene': 'GC18M025058', 'score': 0.44}, {'connected_gene': 'ZNF521', 'score': 0.06}]
chr18 GH18I025079 25079661 25079862 0.4 [{'connected_gene': 'GC18P025072', 'score': 0.44}, {'connected_gene': 'GC18P025138', 'score': 0.22}, {'connected_gene': 'ZNF521', 'score': 0.06}]
chr18 GH18I025222 25222922 25224039 1.06 [{'connected_gene': 'PIR39460', 'score': 0.77}, {'connected_gene': 'ENSG00000279439', 'score': 0.34}, {'connected_gene': 'ZNF521', 'score': 0.13}]
chr18 GH18I025194 25194783 25194992 0.51 [{'connected_gene': 'GC18P025192', 'score': 0.77}, {'connected_gene': 'GC18M025153', 'score': 0.77}, {'connected_gene': 'ZNF521', 'score': 0.1}]
chr18 GH18I025136 25136441 25137901 0.46 [{'connected_gene': 'GC18P025138', 'score': 550.77}, {'connected_gene': 'GC18P025072', 'score': 0.21}, {'connected_gene': 'ZNF521', 'score': 0.08}]
chr18 GH18I025143 25143712 25145566 0.98 [{'connected_gene': 'GC18P025147', 'score': 0.77}, {'connected_gene': 'GC18P025138', 'score': 0.44}, {'connected_gene': 'ZNF521', 'score': 0.08}]
chr18 GH18I025189 25189148 25190615 0.89 [{'connected_gene': 'GC18P025192', 'score': 0.77}, {'connected_gene': 'GC18P025187', 'score': 0.77}, {'connected_gene': 'GC18M025153', 'score': 0.44}, {'connected_gene': 'ZNF521', 'score': 0.1}]
chr18 GH18I025167 25167346 25169011 0.83 [{'connected_gene': 'GC18P025165', 'score': 0.77}, {'connected_gene': 'GC18P025187', 'score': 0.37}, {'connected_gene': 'GC18M025153', 'score': 0.31}, {'connected_gene': 'ZNF521', 'score': 0.09}]
chr18 GH18I025139 25139517 25139666 0.31 [{'connected_gene': 'GC18P025138', 'score': 550.77}, {'connected_gene': 'GC18P025147', 'score': 0.44}, {'connected_gene': 'ZNF521', 'score': 0.08}]
chr18 GH18I025187 25187293 25188514 0.71 [{'connected_gene': 'GC18P025187', 'score': 550.77}, {'connected_gene': 'GC18P025192', 'score': 0.77}, {'connected_gene': 'GC18M025153', 'score': 0.44}, {'connected_gene': 'ZNF521', 'score': 0.1}]
chr18 GH18I025182 25182211 25182484 0.4 [{'connected_gene': 'GC18P025187', 'score': 0.44}, {'connected_gene': 'GC18P025165', 'score': 0.37}, {'connected_gene': 'GC18M025153', 'score': 0.37}, {'connected_gene': 'ZNF521', 'score': 0.1}]
chr18 GH18I025076 25076728 25078824 1.28 [{'connected_gene': 'GC18P025072', 'score': 0.44}, {'connected_gene': 'GC18P025138', 'score': 0.21}, {'connected_gene': 'ZNF521', 'score': 0.06}]
chr18 GH18I025140 25140217 25140626 0.86 [{'connected_gene': 'GC18P025138', 'score': 0.77}, {'connected_gene': 'GC18P025147', 'score': 0.44}, {'connected_gene': 'ZNF521', 'score': 0.08}]
chr18 GH18I025175 25175777 25177383 0.86 [{'connected_gene': 'GC18P025165', 'score': 0.39}, {'connected_gene': 'GC18P025187', 'score': 0.39}, {'connected_gene': 'GC18M025153', 'score': 0.34}, {'connected_gene': 'ZNF521', 'score': 0.1}]
chr18 GH18I025062 25062442 25062683 0.51 [{'connected_gene': 'GC18M025058', 'score': 550.77}, {'connected_gene': 'ENSG00000265552', 'score': 0.44}, {'connected_gene': 'ZNF521', 'score': 0.06}]
chr18 GH18I025186 25186198 25186450 0.4 [{'connected_gene': 'GC18P025187', 'score': 550.77}, {'connected_gene': 'GC18M025153', 'score': 0.39}, {'connected_gene': 'GC18P025165', 'score': 0.34}, {'connected_gene': 'ZNF521', 'score': 0.1}]
chr18 GH18I025278 25278401 25278600 0.6 [{'connected_gene': 'ENSG00000264434', 'score': 0.34}, {'connected_gene': 'LOC105372031', 'score': 0.26}, {'connected_gene': 'ZNF521', 'score': 0.19}]
chr18 GH18I025282 25282133 25290364 2.22 [{'connected_gene': 'ENSG00000264434', 'score': 0.37}, {'connected_gene': 'LOC105372031', 'score': 0.23}, {'connected_gene': 'ZNF521', 'score': 0.2}]
chr18 GH18I025275 25275194 25276253 0.69 [{'connected_gene': 'ENSG00000264434', 'score': 0.31}, {'connected_gene': 'LOC105372031', 'score': 0.26}, {'connected_gene': 'ZNF521', 'score': 0.18}]
chr18 GH18I025280 25279063 25279505 0.43 [{'connected_gene': 'ENSG00000264434', 'score': 0.34}, {'connected_gene': 'LOC105372031', 'score': 0.25}, {'connected_gene': 'ZNF521', 'score': 0.19}]
chr18 GH18I025279 25279778 25280017 0.22 [{'connected_gene': 'ENSG00000264434', 'score': 0.34}, {'connected_gene': 'LOC105372031', 'score': 0.25}, {'connected_gene': 'ZNF521', 'score': 0.19}]

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