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
ENST00000343933 [[100883256, 100887187], [100888830, 100889105], [100890451, 100890542], [100890888, 100891001], [100892075, 100892172], [100893236, 100893341], [100894466, 100894583], [100895319, 100895499], [100897087, 100897237], [100899853, 100899970], [100919741, 100919942], [100934908, 100935166]] [[100887055, 100887187], [100888830, 100889105], [100890451, 100890542], [100890888, 100891001], [100892075, 100892172], [100893236, 100893341], [100894466, 100894583], [100895319, 100895499], [100897087, 100897237], [100899853, 100899970], [100919741, 100919942]]
ENST00000375077 [[100883256, 100887187], [100888830, 100889105], [100890451, 100890542], [100890888, 100891001], [100892075, 100892172], [100893236, 100893341], [100894466, 100894583], [100895319, 100895499], [100897087, 100897237], [100899853, 100899970], [100919741, 100919942], [100954840, 100954922]] [[100887055, 100887187], [100888830, 100889105], [100890451, 100890542], [100890888, 100891001], [100892075, 100892172], [100893236, 100893341], [100894466, 100894583], [100895319, 100895499], [100897087, 100897237], [100899853, 100899970], [100919741, 100919942]]
NM_003389 [[100883256, 100887187], [100888830, 100889105], [100890451, 100890542], [100890888, 100891001], [100892075, 100892172], [100893236, 100893341], [100894466, 100894583], [100895319, 100895499], [100897087, 100897237], [100899853, 100899970], [100919741, 100919942], [100934908, 100935174]] [[100887055, 100887187], [100888830, 100889105], [100890451, 100890542], [100890888, 100891001], [100892075, 100892172], [100893236, 100893341], [100894466, 100894583], [100895319, 100895499], [100897087, 100897237], [100899853, 100899970], [100919741, 100919942]]
NM_052820 [[100883256, 100887187], [100888830, 100889105], [100890451, 100890542], [100890888, 100891001], [100892075, 100892172], [100893236, 100893341], [100894466, 100894583], [100895319, 100895499], [100897087, 100897237], [100899853, 100899970], [100919741, 100919942], [100954840, 100954956]] [[100887055, 100887187], [100888830, 100889105], [100890451, 100890542], [100890888, 100891001], [100892075, 100892172], [100893236, 100893341], [100894466, 100894583], [100895319, 100895499], [100897087, 100897237], [100899853, 100899970], [100919741, 100919942]]
Promoter
Chrom Start End Description
chr9 100935043 100935050 CAGE_peak_7_at_CORO2A_5end
chr9 100954910 100954953 CAGE_peak_1_at_CORO2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I098141 98141738 98148136 1.59 [{'connected_gene': 'TRIM14', 'score': 12.04}, {'connected_gene': 'CORO2A', 'score': 11.75}, {'connected_gene': 'TBC1D2', 'score': 10.9}, {'connected_gene': 'NANS', 'score': 4.18}, {'connected_gene': 'PIR60537', 'score': 0.44}]
chr9 GH09I098149 98149445 98151313 1.05 [{'connected_gene': 'TRIM14', 'score': 12.02}, {'connected_gene': 'CORO2A', 'score': 11.77}, {'connected_gene': 'TBC1D2', 'score': 10.91}, {'connected_gene': 'PIR60537', 'score': 0.39}]
chr9 GH09I098070 98070871 98076600 1.29 [{'connected_gene': 'TRIM14', 'score': 20.43}, {'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'RNU6-918P', 'score': 11.46}, {'connected_gene': 'CORO2A', 'score': 11.43}, {'connected_gene': 'TSTD2', 'score': 10.7}, {'connected_gene': 'HEMGN', 'score': 10.56}, {'connected_gene': 'NANS', 'score': 9.03}, {'connected_gene': 'PIR35853', 'score': 0.39}, {'connected_gene': 'GC09M098254', 'score': 0.39}, {'connected_gene': 'GC09M098251', 'score': 0.39}]
chr9 GH09I098117 98117444 98123006 2.54 [{'connected_gene': 'TRIM14', 'score': 559.71}, {'connected_gene': 'NCBP1', 'score': 56.4}, {'connected_gene': 'ZNF322P1', 'score': 38.92}, {'connected_gene': 'TSTD2', 'score': 38.4}, {'connected_gene': 'ENSG00000254633', 'score': 26.39}, {'connected_gene': 'CORO2A', 'score': 22.74}, {'connected_gene': 'ANKS6', 'score': 21.53}, {'connected_gene': 'CCDC180', 'score': 18.62}, {'connected_gene': 'LOC105376171', 'score': 12.1}, {'connected_gene': 'XPA', 'score': 11.9}, {'connected_gene': 'TBC1D2', 'score': 10.26}, {'connected_gene': 'TRMO', 'score': 5.09}, {'connected_gene': 'FOXE1', 'score': 5.03}, {'connected_gene': 'HEMGN', 'score': 1.26}, {'connected_gene': 'PIR36587', 'score': 0.39}]
chr9 GH09I098263 98263800 98264200 1.01 [{'connected_gene': 'CORO2A', 'score': 22.53}, {'connected_gene': 'TBC1D2', 'score': 17.09}, {'connected_gene': 'TRIM14', 'score': 11.02}, {'connected_gene': 'RNU6-918P', 'score': 10.32}, {'connected_gene': 'GC09M098492', 'score': 0.07}]
chr9 GH09I098128 98128629 98130075 1.09 [{'connected_gene': 'CORO2A', 'score': 11.85}, {'connected_gene': 'TBC1D2', 'score': 4.52}, {'connected_gene': 'PIR36587', 'score': 0.77}, {'connected_gene': 'TRIM14', 'score': 0.44}]
chr9 GH09I098187 98187795 98193983 2.2 [{'connected_gene': 'CORO2A', 'score': 567.71}, {'connected_gene': 'TBC1D2', 'score': 27.41}, {'connected_gene': 'TRIM14', 'score': 11.49}, {'connected_gene': 'PIR60537', 'score': 0.22}]
chr9 GH09I098162 98162319 98165617 0.72 [{'connected_gene': 'CORO2A', 'score': 18.79}, {'connected_gene': 'TBC1D2', 'score': 18.27}, {'connected_gene': 'XPA', 'score': 13.96}, {'connected_gene': 'ZNF322P1', 'score': 12.9}, {'connected_gene': 'TRIM14', 'score': 11.9}, {'connected_gene': 'TSTD2', 'score': 11.72}, {'connected_gene': 'PIR60537', 'score': 0.31}]
chr9 GH09I098240 98240298 98242537 1.52 [{'connected_gene': 'TBC1D2', 'score': 41.35}, {'connected_gene': 'TRIM14', 'score': 10.15}, {'connected_gene': 'CORO2A', 'score': 4.52}, {'connected_gene': 'NANS', 'score': 3.34}, {'connected_gene': 'TRMO', 'score': 2.13}, {'connected_gene': 'LOC100131625', 'score': 0.44}]
chr9 GH09I098214 98214790 98217046 0.8 [{'connected_gene': 'TBC1D2', 'score': 30.24}, {'connected_gene': 'TRIM14', 'score': 11.42}, {'connected_gene': 'CORO2A', 'score': 6.2}, {'connected_gene': 'MIR6854', 'score': 0.39}]
chr9 GH09I098205 98205339 98206200 1.16 [{'connected_gene': 'TBC1D2', 'score': 18.69}, {'connected_gene': 'TRIM14', 'score': 11.15}, {'connected_gene': 'CORO2A', 'score': 8.16}, {'connected_gene': 'MIR6854', 'score': 0.34}]
chr9 GH09I098236 98236171 98237997 0.72 [{'connected_gene': 'TBC1D2', 'score': 32.13}, {'connected_gene': 'TRIM14', 'score': 10.15}, {'connected_gene': 'CORO2A', 'score': 7.06}, {'connected_gene': 'LOC100131625', 'score': 0.77}]
chr9 GH09I098112 98112601 98113600 0.51 [{'connected_gene': 'TBC1D2', 'score': 10.73}, {'connected_gene': 'TRIM14', 'score': 6.35}, {'connected_gene': 'CORO2A', 'score': 6.05}, {'connected_gene': 'ENSG00000274011', 'score': 0.77}, {'connected_gene': 'PIR57415', 'score': 0.31}, {'connected_gene': 'GC09M098247', 'score': 0.31}]
chr9 GH09I098180 98180023 98186209 1.35 [{'connected_gene': 'TBC1D2', 'score': 24.28}, {'connected_gene': 'TRIM14', 'score': 11.15}, {'connected_gene': 'CORO2A', 'score': 10.19}, {'connected_gene': 'PIR60537', 'score': 0.25}]
chr9 GH09I098076 98076619 98076828 0.4 [{'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'TRIM14', 'score': 11.56}, {'connected_gene': 'RNU6-918P', 'score': 11.46}, {'connected_gene': 'CORO2A', 'score': 11.43}, {'connected_gene': 'HEMGN', 'score': 10.55}, {'connected_gene': 'GC09M098254', 'score': 0.44}, {'connected_gene': 'GC09M098251', 'score': 0.44}, {'connected_gene': 'PIR35853', 'score': 0.44}, {'connected_gene': 'NANS', 'score': 0.34}]
chr9 GH09I098078 98078833 98079216 0.75 [{'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'TRIM14', 'score': 11.56}, {'connected_gene': 'RNU6-918P', 'score': 11.45}, {'connected_gene': 'CORO2A', 'score': 11.44}, {'connected_gene': 'HEMGN', 'score': 10.55}, {'connected_gene': 'TRMO', 'score': 1.75}, {'connected_gene': 'PIR35853', 'score': 0.44}, {'connected_gene': 'GC09M098254', 'score': 0.44}, {'connected_gene': 'GC09M098251', 'score': 0.44}, {'connected_gene': 'NANS', 'score': 0.34}]
chr9 GH09I098261 98261989 98263756 0.77 [{'connected_gene': 'TBC1D2', 'score': 17.09}, {'connected_gene': 'CORO2A', 'score': 15.16}, {'connected_gene': 'TRIM14', 'score': 11.02}, {'connected_gene': 'RNU6-918P', 'score': 10.32}, {'connected_gene': 'GC09M098492', 'score': 0.07}]
chr9 GH09I098218 98218565 98220987 1.14 [{'connected_gene': 'TBC1D2', 'score': 27.3}, {'connected_gene': 'CORO2A', 'score': 18.71}, {'connected_gene': 'TRIM14', 'score': 11.61}, {'connected_gene': 'MIR6854', 'score': 0.44}]
chr9 GH09I098246 98246325 98257283 2.85 [{'connected_gene': 'TBC1D2', 'score': 593.93}, {'connected_gene': 'CORO2A', 'score': 10.2}, {'connected_gene': 'TGFBR1', 'score': 9.98}, {'connected_gene': 'NANS', 'score': 5.49}, {'connected_gene': 'TRMO', 'score': 3.94}, {'connected_gene': 'LOC100131625', 'score': 0.37}]
chr9 GH09I098167 98167543 98170457 1.54 [{'connected_gene': 'TBC1D2', 'score': 6.62}, {'connected_gene': 'CORO2A', 'score': 6.07}, {'connected_gene': 'TRMO', 'score': 2.96}, {'connected_gene': 'PIR60537', 'score': 0.29}]
chr9 GH09I098280 98280699 98280928 0.8 [{'connected_gene': 'TBC1D2', 'score': 11.4}, {'connected_gene': 'CORO2A', 'score': 10.87}, {'connected_gene': 'RNU6-918P', 'score': 10.38}, {'connected_gene': 'TRIM14', 'score': 10.34}, {'connected_gene': 'GC09M098492', 'score': 0.08}]
chr9 GH09I098174 98174230 98179224 1.3 [{'connected_gene': 'TBC1D2', 'score': 10.75}, {'connected_gene': 'CORO2A', 'score': 8.25}, {'connected_gene': 'PIR60537', 'score': 0.26}]
chr9 GH09I098270 98270283 98270739 0.31 [{'connected_gene': 'TBC1D2', 'score': 14.51}, {'connected_gene': 'CORO2A', 'score': 12.34}, {'connected_gene': 'GC09M098492', 'score': 0.07}]
chr9 GH09I098172 98172679 98172928 0.99 [{'connected_gene': 'TBC1D2', 'score': 5.96}, {'connected_gene': 'CORO2A', 'score': 0.37}, {'connected_gene': 'PIR60537', 'score': 0.28}]
chr9 GH09I097801 97801873 97804234 1.54 [{'connected_gene': 'FOXE1', 'score': 20.77}, {'connected_gene': 'NUTM2G', 'score': 11.88}, {'connected_gene': 'CORO2A', 'score': 1.29}, {'connected_gene': 'PTCSC2', 'score': 0.23}, {'connected_gene': 'ENSG00000260677', 'score': 0.22}]
chr9 GH09I098221 98221005 98235773 1.72 [{'connected_gene': 'MIR6854', 'score': 550.77}, {'connected_gene': 'TBC1D2', 'score': 45.45}, {'connected_gene': 'CORO2A', 'score': 17.67}, {'connected_gene': 'NCBP1', 'score': 14.33}, {'connected_gene': 'TSTD2', 'score': 12.87}, {'connected_gene': 'TRIM14', 'score': 10.78}, {'connected_gene': 'ENSG00000236896', 'score': 10.71}, {'connected_gene': 'LOC100131625', 'score': 0.44}]
chr9 GH09I098158 98158439 98158588 1.05 [{'connected_gene': 'PIR60537', 'score': 0.34}, {'connected_gene': 'CORO2A', 'score': 0.29}]
chr9 GH09I098134 98134539 98136618 0.49 [{'connected_gene': 'PIR60537', 'score': 550.77}, {'connected_gene': 'CORO2A', 'score': 4.66}, {'connected_gene': 'PIR36587', 'score': 0.77}]
chr9 GH09I098156 98156626 98157699 0.31 [{'connected_gene': 'PIR60537', 'score': 0.34}, {'connected_gene': 'CORO2A', 'score': 0.28}]
chr9 GH09I098154 98154819 98154948 0.57 [{'connected_gene': 'PIR60537', 'score': 0.37}, {'connected_gene': 'CORO2A', 'score': 0.28}]