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
ENST00000361156 [[96230456, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294495], [96295296, 96295517]] [[96234487, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294283]]
ENST00000347108 [[96230456, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96261710, 96261767], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294495], [96295296, 96295517]] [[96234487, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96261710, 96261767], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294283]]
ENST00000361396 [[96233370, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294495], [96295296, 96295511], [96295854, 96295952], [96296630, 96296944]] [[96234487, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294283]]
ENST00000376829 [[96234205, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96261710, 96261767], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294495], [96295296, 96295511], [96295854, 96295952], [96296630, 96296957]] [[96234487, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96261710, 96261767], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294283]]
ENST00000485031 [[96234223, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96240387]] None
ENST00000479518 [[96236831, 96237164], [96238259, 96238390], [96239792, 96239928]] None
ENST00000466569 [[96251610, 96251678], [96258256, 96258313], [96261710, 96261767], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96282967, 96283067], [96285487, 96285575], [96293548, 96294283]] [[96283056, 96283067], [96285487, 96285575], [96293548, 96294283]]
ENST00000466027 [[96289262, 96289430], [96293548, 96294109], [96294247, 96294495], [96295296, 96295511], [96295854, 96295952], [96296630, 96296920]] None
NM_198968 [[96230455, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96261710, 96261767], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294495], [96295296, 96295511], [96295854, 96295952], [96296630, 96296960]] [[96234487, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96261710, 96261767], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294283]]
NM_014934 [[96230455, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294495], [96295296, 96295511], [96295854, 96295952], [96296630, 96296960]] [[96234487, 96234567], [96236989, 96237164], [96238259, 96238390], [96239792, 96239983], [96241407, 96241461], [96242056, 96242186], [96242532, 96242695], [96246197, 96246340], [96251618, 96251678], [96258256, 96258313], [96263698, 96263747], [96264290, 96264431], [96272138, 96272201], [96274596, 96274734], [96277021, 96277183], [96282242, 96282367], [96285487, 96285575], [96293548, 96294109], [96294247, 96294283]]
Promoter
Chrom Start End Description
chr13 96239861 96239864 CAGE_peak_19_at_DZIP1_5end
chr13 96239876 96239884 CAGE_peak_14_at_DZIP1_5end
chr13 96239886 96239897 CAGE_peak_10_at_DZIP1_5end
chr13 96239905 96239916 CAGE_peak_12_at_DZIP1_5end
chr13 96240096 96240106 CAGE_peak_18_at_DZIP1_5end
chr13 96240113 96240122 CAGE_peak_15_at_DZIP1_5end
chr13 96240126 96240136 CAGE_peak_16_at_DZIP1_5end
chr13 96294368 96294373 CAGE_peak_13_at_DZIP1_5end
chr13 96294390 96294408 CAGE_peak_6_at_DZIP1_5end
chr13 96294415 96294428 CAGE_peak_8_at_DZIP1_5end
chr13 96296795 96296812 CAGE_peak_4_at_DZIP1_5end
chr13 96296815 96296854 CAGE_peak_2_at_DZIP1_5end
chr13 96296952 96296968 CAGE_peak_1_at_DZIP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I095656 95656121 95657522 0.62 [{'connected_gene': 'DNAJC3', 'score': 20.89}, {'connected_gene': 'DNAJC3-AS1', 'score': 12.08}, {'connected_gene': 'CLDN10', 'score': 9.79}, {'connected_gene': 'DZIP1', 'score': 0.39}]
chr13 GH13I095675 95675139 95678801 2.05 [{'connected_gene': 'DNAJC3', 'score': 564.34}, {'connected_gene': 'DNAJC3-AS1', 'score': 550.77}, {'connected_gene': 'DZIP1', 'score': 19.93}, {'connected_gene': 'UGGT2', 'score': 14.38}]
chr13 GH13I095678 95678807 95679057 0.38 [{'connected_gene': 'DNAJC3', 'score': 550.77}, {'connected_gene': 'DNAJC3-AS1', 'score': 550.77}, {'connected_gene': 'DZIP1', 'score': 11.27}, {'connected_gene': 'MTND5P2', 'score': 0.39}]
chr13 GH13I095564 95564401 95565600 0.77 [{'connected_gene': 'DZIP1', 'score': 5.61}, {'connected_gene': 'CLDN10', 'score': 4.73}, {'connected_gene': 'DNAJC3', 'score': 4.62}, {'connected_gene': 'GC13M095580', 'score': 0.39}, {'connected_gene': 'GC13P095540', 'score': 0.34}]
chr13 GH13I095835 95835829 95836026 0.22 [{'connected_gene': 'DZIP1', 'score': 10.49}, {'connected_gene': 'DNAJC3', 'score': 6.15}, {'connected_gene': 'HMGN1P24', 'score': 0.31}, {'connected_gene': 'GC13M095889', 'score': 0.21}, {'connected_gene': 'UGGT2', 'score': 0.08}]
chr13 GH13I095684 95684002 95684999 0.72 [{'connected_gene': 'DZIP1', 'score': 19.85}, {'connected_gene': 'DNAJC3', 'score': 0.44}, {'connected_gene': 'MTND5P2', 'score': 0.44}]
chr13 GH13I095680 95680601 95681000 0.2 [{'connected_gene': 'DZIP1', 'score': 11.25}, {'connected_gene': 'DNAJC3', 'score': 0.77}, {'connected_gene': 'MTND5P2', 'score': 0.39}]
chr13 GH13I095679 95679267 95679416 0.31 [{'connected_gene': 'DZIP1', 'score': 11.27}, {'connected_gene': 'UGGT2', 'score': 5.58}, {'connected_gene': 'DNAJC3', 'score': 0.77}, {'connected_gene': 'MTND5P2', 'score': 0.39}]
chr13 GH13I096274 96274344 96275423 0.69 [{'connected_gene': 'DZIP1', 'score': 22.12}, {'connected_gene': 'UGGT2', 'score': 15.69}, {'connected_gene': 'GC13M096277', 'score': 0.77}, {'connected_gene': 'GC13M096146', 'score': 0.37}, {'connected_gene': 'HS6ST3', 'score': 0.09}]
chr13 GH13I095642 95642957 95645253 1.84 [{'connected_gene': 'DZIP1', 'score': 562.24}, {'connected_gene': 'UGGT2', 'score': 11.38}, {'connected_gene': 'DNAJC3-AS1', 'score': 10.69}, {'connected_gene': 'CLDN10', 'score': 4.31}, {'connected_gene': 'GC13M095581', 'score': 0.22}]
chr13 GH13I095834 95834200 95834600 0.89 [{'connected_gene': 'DZIP1', 'score': 11.01}, {'connected_gene': 'HMGN1P24', 'score': 0.34}, {'connected_gene': 'GC13M095889', 'score': 0.21}, {'connected_gene': 'UGGT2', 'score': 0.08}]
chr13 GH13I095641 95641219 95642441 1.64 [{'connected_gene': 'DZIP1', 'score': 550.77}, {'connected_gene': 'DNAJC3-AS1', 'score': 18.7}, {'connected_gene': 'DNAJC3', 'score': 11.51}, {'connected_gene': 'GC13M095581', 'score': 0.22}]
chr13 GH13I095603 95603707 95604876 0.77 [{'connected_gene': 'DZIP1', 'score': 11.86}, {'connected_gene': 'GC13M095581', 'score': 0.34}]
chr13 GH13I095623 95623647 95624366 0.62 [{'connected_gene': 'DZIP1', 'score': 0.34}, {'connected_gene': 'GC13M095581', 'score': 0.28}]
chr13 GH13I095609 95609792 95609947 0.22 [{'connected_gene': 'DZIP1', 'score': 1.67}, {'connected_gene': 'GC13M095581', 'score': 0.31}]
chr13 GH13I095265 95265617 95277282 1.64 [{'connected_gene': 'ABCC4', 'score': 21.86}, {'connected_gene': 'DZIP1', 'score': 12.1}, {'connected_gene': 'LOC102724149', 'score': 0.31}, {'connected_gene': 'GC13M095121', 'score': 0.11}]
chr13 GH13I095540 95540511 95541639 0.31 [{'connected_gene': 'GC13P095540', 'score': 550.77}, {'connected_gene': 'DZIP1', 'score': 10.84}, {'connected_gene': 'CLDN10', 'score': 9.26}, {'connected_gene': 'UGGT2', 'score': 6.13}, {'connected_gene': 'DNAJC3', 'score': 4.65}, {'connected_gene': 'GC13M095580', 'score': 0.28}]