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
ENST00000373229 [[39282473, 39282905], [39284077, 39284218], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290330]] [[39282777, 39282905], [39284077, 39284218], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]]
ENST00000425054 [[39282596, 39283207], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]] [[39282899, 39283207], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]]
ENST00000507712 [[39282723, 39282905], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290217], [39290599, 39290744]] [[39282777, 39282905], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290121]]
ENST00000373227 [[39282777, 39282905], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]] [[39282777, 39282905], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]]
ENST00000437525 [[39283946, 39284218], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290364]] [[39283994, 39284218], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]]
NM_032115 [[39282473, 39282905], [39284077, 39284218], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290330]] [[39282777, 39282905], [39284077, 39284218], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]]
NM_001135105 [[39282473, 39283207], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290330]] [[39282899, 39283207], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]]
NM_001135107 [[39282473, 39282905], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290330]] [[39282777, 39282905], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]]
NM_001135106 [[39283946, 39284218], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290330]] [[39283994, 39284218], [39284557, 39284723], [39285561, 39285728], [39286794, 39286909], [39290103, 39290316]]
Promoter
Chrom Start End Description
chr6 39290371 39290388 CAGE_peak_4_at_KCNK16_5end
chr6 39290407 39290416 CAGE_peak_5_at_KCNK16_5end
chr6 39290436 39290454 CAGE_peak_3_at_KCNK16_5end
chr6 39290466 39290482 CAGE_peak_2_at_KCNK16_5end
chr6 39290499 39290502 CAGE_peak_8_at_KCNK16_5end
chr6 39290752 39290794 CAGE_peak_1_at_KCNK16_5end
chr6 39290815 39290820 CAGE_peak_6_at_KCNK16_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I039272 39272865 39273824 0.31 [{'connected_gene': 'KCNK17', 'score': 11.9}, {'connected_gene': 'KCNK5', 'score': 11.58}, {'connected_gene': 'KCNK16', 'score': 10.99}, {'connected_gene': 'GLP1R', 'score': 10.6}, {'connected_gene': 'SAYSD1', 'score': 10.35}, {'connected_gene': 'PIR44224', 'score': 0.29}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039273 39272203 39272752 0.31 [{'connected_gene': 'KCNK17', 'score': 16.21}, {'connected_gene': 'KCNK5', 'score': 11.42}, {'connected_gene': 'GLP1R', 'score': 10.6}, {'connected_gene': 'KCNK16', 'score': 10.08}, {'connected_gene': 'SAYSD1', 'score': 9.9}, {'connected_gene': 'PIR44224', 'score': 0.28}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039266 39266945 39267094 0.57 [{'connected_gene': 'KCNK17', 'score': 11.88}, {'connected_gene': 'KCNK5', 'score': 11.43}, {'connected_gene': 'GLP1R', 'score': 10.61}, {'connected_gene': 'KCNK16', 'score': 10.07}, {'connected_gene': 'SAYSD1', 'score': 9.9}, {'connected_gene': 'PIR44224', 'score': 0.26}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039269 39269655 39271677 0.69 [{'connected_gene': 'KCNK17', 'score': 16.46}, {'connected_gene': 'KCNK5', 'score': 11.42}, {'connected_gene': 'GLP1R', 'score': 10.6}, {'connected_gene': 'KCNK16', 'score': 10.08}, {'connected_gene': 'SAYSD1', 'score': 9.9}, {'connected_gene': 'PIR44224', 'score': 0.28}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039267 39267838 39269028 0.43 [{'connected_gene': 'KCNK17', 'score': 11.88}, {'connected_gene': 'KCNK5', 'score': 11.43}, {'connected_gene': 'GLP1R', 'score': 10.61}, {'connected_gene': 'KCNK16', 'score': 10.08}, {'connected_gene': 'SAYSD1', 'score': 9.9}, {'connected_gene': 'PIR44224', 'score': 0.28}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039361 39361879 39362965 1.12 [{'connected_gene': 'KCNK17', 'score': 18.33}, {'connected_gene': 'KCNK16', 'score': 11.12}, {'connected_gene': 'LOC100124373', 'score': 0.44}, {'connected_gene': 'GC06M039593', 'score': 0.26}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039358 39358200 39358400 0.63 [{'connected_gene': 'KCNK17', 'score': 11.77}, {'connected_gene': 'KCNK16', 'score': 11.12}, {'connected_gene': 'LOC100124373', 'score': 0.77}, {'connected_gene': 'GC06M039593', 'score': 0.25}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039335 39335790 39336545 0.63 [{'connected_gene': 'KCNK17', 'score': 17.01}, {'connected_gene': 'KCNK16', 'score': 0.39}, {'connected_gene': 'LOC100124373', 'score': 0.37}, {'connected_gene': 'LOC105375047', 'score': 0.34}, {'connected_gene': 'GC06M039593', 'score': 0.19}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039347 39347020 39348116 0.59 [{'connected_gene': 'KCNK17', 'score': 8.85}, {'connected_gene': 'KIF6', 'score': 4.31}, {'connected_gene': 'LOC100124373', 'score': 0.44}, {'connected_gene': 'KCNK16', 'score': 0.34}, {'connected_gene': 'GC06M039593', 'score': 0.22}]
chr6 GH06I039312 39312908 39313315 0.59 [{'connected_gene': 'KCNK17', 'score': 579.7}, {'connected_gene': 'LOC105375047', 'score': 550.77}, {'connected_gene': 'KCNK16', 'score': 41.6}, {'connected_gene': 'GLP1R', 'score': 2.34}, {'connected_gene': 'SAYSD1', 'score': 1.81}, {'connected_gene': 'GC06M039592', 'score': 0.77}, {'connected_gene': 'GC06M039593', 'score': 0.16}]
chr6 GH06I039315 39315976 39316612 0.2 [{'connected_gene': 'KCNK17', 'score': 565.82}, {'connected_gene': 'LOC105375047', 'score': 0.77}, {'connected_gene': 'KCNK16', 'score': 0.44}, {'connected_gene': 'GC06M039593', 'score': 0.16}]
chr6 GH06I039344 39344356 39345861 0.54 [{'connected_gene': 'KCNK17', 'score': 7.02}, {'connected_gene': 'LOC100124373', 'score': 0.44}, {'connected_gene': 'KCNK16', 'score': 0.34}, {'connected_gene': 'GC06M039593', 'score': 0.21}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039178 39178143 39182005 0.38 [{'connected_gene': 'KCNK5', 'score': 18.9}, {'connected_gene': 'KCNK17', 'score': 12.07}, {'connected_gene': 'ANKRD18EP', 'score': 12.06}, {'connected_gene': 'KCNK16', 'score': 10.67}, {'connected_gene': 'PIR34969', 'score': 0.29}, {'connected_gene': 'GC06M039593', 'score': 0.07}]
chr6 GH06I039323 39323625 39331358 0.6 [{'connected_gene': 'KCNK5', 'score': 10.11}, {'connected_gene': 'SAYSD1', 'score': 9.65}, {'connected_gene': 'KCNK17', 'score': 9.49}, {'connected_gene': 'KCNK16', 'score': 0.77}, {'connected_gene': 'LOC105375047', 'score': 0.39}, {'connected_gene': 'LOC100124373', 'score': 0.31}, {'connected_gene': 'GC06M039593', 'score': 0.18}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039256 39256319 39256859 0.38 [{'connected_gene': 'KCNK5', 'score': 11.96}, {'connected_gene': 'SAYSD1', 'score': 10.53}, {'connected_gene': 'KCNK16', 'score': 10.06}, {'connected_gene': 'PIR44224', 'score': 0.23}, {'connected_gene': 'GC06M039593', 'score': 0.1}]
chr6 GH06I039320 39320154 39320510 0.59 [{'connected_gene': 'KCNK16', 'score': 61.58}, {'connected_gene': 'KCNK17', 'score': 29.62}, {'connected_gene': 'GLP1R', 'score': 2.15}, {'connected_gene': 'SAYSD1', 'score': 1.8}, {'connected_gene': 'LOC105375047', 'score': 0.44}, {'connected_gene': 'GC06M039593', 'score': 0.17}]
chr6 GH06I039322 39322471 39322530 0.7 [{'connected_gene': 'KCNK16', 'score': 550.77}, {'connected_gene': 'LOC105375047', 'score': 0.44}, {'connected_gene': 'KCNK17', 'score': 0.44}, {'connected_gene': 'GC06M039593', 'score': 0.18}]
chr6 GH06I039365 39365609 39366276 0.46 [{'connected_gene': 'KCNK16', 'score': 11.59}, {'connected_gene': 'LOC100505635', 'score': 10.7}, {'connected_gene': 'LOC100124373', 'score': 0.39}, {'connected_gene': 'GC06M039593', 'score': 0.26}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039366 39366890 39367266 0.42 [{'connected_gene': 'KCNK16', 'score': 11.59}, {'connected_gene': 'LOC100505635', 'score': 10.7}, {'connected_gene': 'LOC100124373', 'score': 0.39}, {'connected_gene': 'GC06M039593', 'score': 0.28}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039067 39067253 39069193 0.31 [{'connected_gene': 'SAYSD1', 'score': 16.83}, {'connected_gene': 'KCNK17', 'score': 10.82}, {'connected_gene': 'KCNK16', 'score': 10.23}, {'connected_gene': 'KCNK5', 'score': 9.91}, {'connected_gene': 'GLP1R', 'score': 5.3}, {'connected_gene': 'LOC105375046', 'score': 0.39}]
chr6 GH06I039349 39349634 39349663 0.26 [{'connected_gene': 'LOC100124373', 'score': 0.77}, {'connected_gene': 'KCNK16', 'score': 0.31}, {'connected_gene': 'GC06M039593', 'score': 0.22}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039342 39342426 39343890 0.83 [{'connected_gene': 'LOC100124373', 'score': 0.39}, {'connected_gene': 'KCNK16', 'score': 0.34}, {'connected_gene': 'LOC105375047', 'score': 0.31}, {'connected_gene': 'GC06M039593', 'score': 0.21}, {'connected_gene': 'KIF6', 'score': 0.05}]