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
ENST00000544246 [[66876966, 66879160], [67205341, 67205543], [67477635, 67477737], [67799536, 67802707], [67803911, 67804468]] [[66878786, 66879160], [67205341, 67205543], [67477635, 67477737], [67799536, 67802572]]
ENST00000377865 [[66876968, 66879160], [67205341, 67205543], [67477635, 67477737], [67799536, 67802707]] [[66878786, 66879160], [67205341, 67205543], [67477635, 67477737], [67799536, 67802572]]
ENST00000456367 [[66877251, 66879160], [67205341, 67205543], [67799536, 67802707], [67803911, 67804463]] [[66878786, 66879160], [67205341, 67205543], [67799536, 67802572]]
ENST00000328454 [[66878735, 66879160], [67205341, 67205543], [67799536, 67802572]] [[66878786, 66879160], [67205341, 67205543], [67799536, 67802572]]
ENST00000377861 [[67798862, 67802707], [67803911, 67804463]] [[67799473, 67802572]]
NM_203487 [[66876965, 66879160], [67205341, 67205543], [67477635, 67477737], [67799536, 67802707], [67803911, 67804468]] [[66878786, 66879160], [67205341, 67205543], [67477635, 67477737], [67799536, 67802572]]
NM_001318372 [[66876965, 66879160], [67205341, 67205417], [67477635, 67477737], [67799536, 67802707], [67803911, 67804468]] [[66878786, 66879160], [67205341, 67205417], [67477635, 67477737], [67799536, 67802572]]
NM_020403 [[66876965, 66879160], [67205341, 67205543], [67799536, 67802707], [67803911, 67804468]] [[66878786, 66879160], [67205341, 67205543], [67799536, 67802572]]
NM_001318373 [[66876965, 66879160], [67205341, 67205417], [67799536, 67802707], [67803911, 67804468]] [[66878786, 66879160], [67205341, 67205417], [67799536, 67802572]]
NM_001318374 [[67798638, 67802707], [67803911, 67804468]] [[67799473, 67802572]]
Promoter
Chrom Start End Description
chr13 67804445 67804475 CAGE_peak_1_at_PCDH9_5end
chr13 67804476 67804487 CAGE_peak_2_at_PCDH9_5end
chr13 67804509 67804520 CAGE_peak_3_at_PCDH9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I067057 67057792 67066279 0.67 [{'connected_gene': 'PCDH9', 'score': 11.28}, {'connected_gene': 'PCDH9-AS3', 'score': 10.72}, {'connected_gene': 'GC13M067082', 'score': 0.34}, {'connected_gene': 'GC13M066851', 'score': 0.21}]
chr13 GH13I067047 67047976 67049571 1.08 [{'connected_gene': 'PCDH9', 'score': 11.31}, {'connected_gene': 'PCDH9-AS3', 'score': 10.7}, {'connected_gene': 'GC13M067082', 'score': 0.28}, {'connected_gene': 'GC13M066851', 'score': 0.23}]
chr13 GH13I067051 67051893 67053643 0.31 [{'connected_gene': 'PCDH9', 'score': 19.66}, {'connected_gene': 'PCDH9-AS3', 'score': 10.64}, {'connected_gene': 'GC13M067082', 'score': 0.29}, {'connected_gene': 'GC13M066851', 'score': 0.23}]
chr13 GH13I067206 67206859 67211114 0.38 [{'connected_gene': 'PCDH9', 'score': 18.14}, {'connected_gene': 'PCDH9-AS3', 'score': 9.98}, {'connected_gene': 'GC13M067192', 'score': 0.34}, {'connected_gene': 'GC13P067116', 'score': 0.16}]
chr13 GH13I066883 66883549 66883876 0.22 [{'connected_gene': 'PCDH9', 'score': 4.65}, {'connected_gene': 'GC13M066891', 'score': 0.39}, {'connected_gene': 'PCDH9-AS2', 'score': 0.22}, {'connected_gene': 'GC13M066851', 'score': 0.14}]
chr13 GH13I067066 67066813 67067634 0.2 [{'connected_gene': 'PCDH9', 'score': 6.76}, {'connected_gene': 'GC13M067082', 'score': 0.37}, {'connected_gene': 'GC13M066851', 'score': 0.2}]
chr13 GH13I067095 67095689 67095838 0.66 [{'connected_gene': 'PCDH9', 'score': 10.6}, {'connected_gene': 'GC13M067082', 'score': 0.39}, {'connected_gene': 'GC13P067116', 'score': 0.34}]
chr13 GH13I067073 67073734 67078040 0.54 [{'connected_gene': 'PCDH9', 'score': 11.36}, {'connected_gene': 'GC13M067082', 'score': 0.44}, {'connected_gene': 'GC13M066851', 'score': 0.18}]
chr13 GH13I067106 67106042 67107245 0.2 [{'connected_gene': 'PCDH9', 'score': 7.43}, {'connected_gene': 'GC13P067116', 'score': 0.39}, {'connected_gene': 'GC13M067082', 'score': 0.34}]
chr13 GH13I067215 67215274 67220327 0.49 [{'connected_gene': 'PCDH9', 'score': 7.08}, {'connected_gene': 'GC13M067192', 'score': 0.37}, {'connected_gene': 'GC13P067116', 'score': 0.15}]
chr13 GH13I067099 67099151 67100238 0.2 [{'connected_gene': 'PCDH9', 'score': 10.77}, {'connected_gene': 'GC13M067082', 'score': 0.39}, {'connected_gene': 'GC13P067116', 'score': 0.37}]
chr13 GH13I067068 67068293 67073007 0.66 [{'connected_gene': 'PCDH9', 'score': 10.76}, {'connected_gene': 'GC13M067082', 'score': 0.39}, {'connected_gene': 'GC13M066851', 'score': 0.19}]
chr13 GH13I067085 67085030 67089408 0.52 [{'connected_gene': 'PCDH9', 'score': 10.77}, {'connected_gene': 'GC13M067082', 'score': 0.77}, {'connected_gene': 'GC13P067116', 'score': 0.31}]
chr13 GH13I067225 67225401 67225800 0.4 [{'connected_gene': 'PCDH9', 'score': 0.77}, {'connected_gene': 'GC13M067192', 'score': 0.44}, {'connected_gene': 'GC13P067116', 'score': 0.14}]
chr13 GH13I067223 67223935 67224599 1.28 [{'connected_gene': 'PCDH9', 'score': 8.49}, {'connected_gene': 'GC13M067192', 'score': 0.44}, {'connected_gene': 'GC13P067116', 'score': 0.14}]
chr13 GH13I067221 67221601 67222000 0.89 [{'connected_gene': 'PCDH9', 'score': 7.08}, {'connected_gene': 'GC13M067192', 'score': 0.39}, {'connected_gene': 'GC13P067116', 'score': 0.15}]
chr13 GH13I067120 67120769 67121621 0.92 [{'connected_gene': 'PCDH9', 'score': 4.78}, {'connected_gene': 'GC13P067116', 'score': 0.77}]
chr13 GH13I067155 67155990 67156255 0.56 [{'connected_gene': 'PCDH9', 'score': 16.46}, {'connected_gene': 'GC13P067116', 'score': 0.28}]
chr13 GH13I067134 67134201 67135000 0.89 [{'connected_gene': 'PCDH9', 'score': 4.88}, {'connected_gene': 'GC13P067116', 'score': 0.37}]
chr13 GH13I067129 67129846 67132751 0.72 [{'connected_gene': 'PCDH9', 'score': 4.88}, {'connected_gene': 'GC13P067116', 'score': 0.39}]
chr13 GH13I067157 67157588 67159950 0.46 [{'connected_gene': 'PCDH9', 'score': 10.32}, {'connected_gene': 'GC13P067116', 'score': 0.26}]
chr13 GH13I067228 67228400 67232744 2.19 [{'connected_gene': 'PCDH9', 'score': 559.1}, {'connected_gene': 'GC13M067192', 'score': 0.77}]
chr13 GH13I067126 67126642 67129455 0.54 [{'connected_gene': 'PCDH9', 'score': 4.97}, {'connected_gene': 'GC13P067116', 'score': 0.39}]
chr13 GH13I067124 67124266 67126036 0.38 [{'connected_gene': 'PCDH9', 'score': 4.78}, {'connected_gene': 'GC13P067116', 'score': 0.44}]
chr13 GH13I067146 67146250 67149139 1.19 [{'connected_gene': 'PCDH9', 'score': 13.36}, {'connected_gene': 'GC13P067116', 'score': 0.29}]
chr13 GH13I066508 66508609 66508758 0.46 [{'connected_gene': 'LOC105370247', 'score': 0.23}, {'connected_gene': 'GC13M066408', 'score': 0.15}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066577 66577260 66577357 0.33 [{'connected_gene': 'LOC105370247', 'score': 0.37}, {'connected_gene': 'GC13M066601', 'score': 0.31}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066573 66572001 66572360 0.33 [{'connected_gene': 'LOC105370247', 'score': 0.39}, {'connected_gene': 'GC13M066601', 'score': 0.29}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066531 66531995 66532779 0.38 [{'connected_gene': 'LOC105370247', 'score': 0.31}, {'connected_gene': 'GC13M066408', 'score': 0.13}, {'connected_gene': 'PCDH9', 'score': 0.02}]
chr13 GH13I066574 66574132 66575378 0.2 [{'connected_gene': 'LOC105370247', 'score': 0.39}, {'connected_gene': 'GC13M066601', 'score': 0.31}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066572 66572759 66573078 0.34 [{'connected_gene': 'LOC105370247', 'score': 0.39}, {'connected_gene': 'GC13M066601', 'score': 0.29}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066992 66992329 66992378 0.49 [{'connected_gene': 'PCDH9-AS4', 'score': 550.77}, {'connected_gene': 'GC13M066851', 'score': 0.44}, {'connected_gene': 'PCDH9', 'score': 0.07}]
chr13 GH13I066993 66993530 66996963 0.98 [{'connected_gene': 'PCDH9-AS4', 'score': 0.77}, {'connected_gene': 'GC13M066851', 'score': 0.77}, {'connected_gene': 'PCDH9', 'score': 0.07}]
chr13 GH13I067023 67023186 67024369 0.74 [{'connected_gene': 'PCDH9-AS4', 'score': 10.86}, {'connected_gene': 'PCDH9-AS3', 'score': 10.8}, {'connected_gene': 'GC13M066851', 'score': 0.31}, {'connected_gene': 'GC13M067082', 'score': 0.21}, {'connected_gene': 'PCDH9', 'score': 0.08}]
chr13 GH13I066887 66887202 66887594 0.53 [{'connected_gene': 'PCDH9-AS3', 'score': 10.12}, {'connected_gene': 'PCDH9', 'score': 6.62}, {'connected_gene': 'GC13M066891', 'score': 0.44}, {'connected_gene': 'PCDH9-AS2', 'score': 0.21}, {'connected_gene': 'GC13M066851', 'score': 0.14}]
chr13 GH13I067034 67034582 67035530 0.31 [{'connected_gene': 'PCDH9-AS3', 'score': 10.96}, {'connected_gene': 'PCDH9', 'score': 6.88}, {'connected_gene': 'GC13M066851', 'score': 0.28}, {'connected_gene': 'GC13M067082', 'score': 0.25}]
chr13 GH13I067031 67031689 67034343 0.31 [{'connected_gene': 'PCDH9-AS3', 'score': 10.96}, {'connected_gene': 'PCDH9', 'score': 10.85}, {'connected_gene': 'GC13M066851', 'score': 0.29}, {'connected_gene': 'GC13M067082', 'score': 0.23}]
chr13 GH13I067035 67035612 67046572 0.64 [{'connected_gene': 'PCDH9-AS3', 'score': 11.06}, {'connected_gene': 'PCDH9', 'score': 10.89}, {'connected_gene': 'GC13M067082', 'score': 0.26}, {'connected_gene': 'GC13M066851', 'score': 0.26}]
chr13 GH13I067150 67150644 67153366 0.43 [{'connected_gene': 'PCDH9-AS3', 'score': 10.63}, {'connected_gene': 'PCDH9', 'score': 10.54}, {'connected_gene': 'GC13P067116', 'score': 0.28}]
chr13 GH13I066344 66344849 66344998 0.2 [{'connected_gene': 'PCDH9-AS1', 'score': 0.26}, {'connected_gene': 'GC13M066408', 'score': 0.21}, {'connected_gene': 'PCDH9', 'score': 0.02}]
chr13 GH13I066315 66315222 66316453 0.2 [{'connected_gene': 'PCDH9-AS1', 'score': 0.39}, {'connected_gene': 'GC13M066408', 'score': 0.16}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066312 66312130 66313461 0.57 [{'connected_gene': 'PCDH9-AS1', 'score': 0.44}, {'connected_gene': 'GC13M066408', 'score': 0.15}, {'connected_gene': 'PCDH9', 'score': 0.02}]
chr13 GH13I066306 66306252 66306636 0.52 [{'connected_gene': 'PCDH9-AS1', 'score': 0.77}, {'connected_gene': 'GC13M066408', 'score': 0.15}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066834 66834912 66835603 1.02 [{'connected_gene': 'PCDH9-AS2', 'score': 0.39}, {'connected_gene': 'GC13M066891', 'score': 0.21}, {'connected_gene': 'PCDH9', 'score': 0.05}]
chr13 GH13I066665 66665259 66666556 0.69 [{'connected_gene': 'RNU7-87P', 'score': 11.07}, {'connected_gene': 'GC13M066713', 'score': 0.25}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066673 66673048 66673803 0.43 [{'connected_gene': 'RNU7-87P', 'score': 0.26}, {'connected_gene': 'GC13M066713', 'score': 0.26}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066634 66634733 66636298 0.57 [{'connected_gene': 'RNU7-87P', 'score': 0.77}, {'connected_gene': 'LOC105370247', 'score': 0.18}, {'connected_gene': 'GC13M066713', 'score': 0.18}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066659 66659225 66660871 0.93 [{'connected_gene': 'RNU7-87P', 'score': 0.31}, {'connected_gene': 'GC13M066713', 'score': 0.23}, {'connected_gene': 'LOC105370247', 'score': 0.15}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066656 66656084 66658165 1.03 [{'connected_gene': 'RNU7-87P', 'score': 11.49}, {'connected_gene': 'GC13M066713', 'score': 0.22}, {'connected_gene': 'LOC105370247', 'score': 0.15}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I067114 67114154 67119424 0.62 [{'connected_gene': 'GC13P067116', 'score': 550.77}, {'connected_gene': 'PCDH9', 'score': 20.28}, {'connected_gene': 'PCDH9-AS3', 'score': 10.76}, {'connected_gene': 'GC13M067082', 'score': 0.29}]
chr13 GH13I067138 67138793 67139630 0.46 [{'connected_gene': 'GC13P067116', 'score': 0.34}, {'connected_gene': 'PCDH9', 'score': 0.16}]
chr13 GH13I067083 67083246 67084915 0.52 [{'connected_gene': 'GC13M067082', 'score': 550.77}, {'connected_gene': 'PCDH9', 'score': 11.29}, {'connected_gene': 'GC13M066851', 'score': 0.17}]
chr13 GH13I067143 67143379 67145686 0.43 [{'connected_gene': 'GC13P067116', 'score': 0.31}, {'connected_gene': 'PCDH9', 'score': 0.17}]
chr13 GH13I067100 67100302 67101375 1.16 [{'connected_gene': 'GC13M067082', 'score': 0.37}, {'connected_gene': 'GC13P067116', 'score': 0.37}, {'connected_gene': 'PCDH9', 'score': 0.13}]
chr13 GH13I067119 67119669 67119898 0.93 [{'connected_gene': 'GC13P067116', 'score': 0.77}, {'connected_gene': 'PCDH9', 'score': 0.14}]
chr13 GH13I067160 67160525 67162182 0.2 [{'connected_gene': 'GC13P067116', 'score': 0.26}, {'connected_gene': 'PCDH9', 'score': 0.2}]
chr13 GH13I066588 66588188 66588464 0.51 [{'connected_gene': 'GC13M066601', 'score': 0.37}, {'connected_gene': 'LOC105370247', 'score': 0.31}, {'connected_gene': 'PCDH9', 'score': 0.03}]
chr13 GH13I066926 66926842 66927868 0.7 [{'connected_gene': 'GC13M066891', 'score': 0.29}, {'connected_gene': 'PCDH9-AS3', 'score': 0.23}, {'connected_gene': 'GC13M066851', 'score': 0.19}, {'connected_gene': 'PCDH9', 'score': 0.06}]
chr13 GH13I066933 66933451 66934650 0.71 [{'connected_gene': 'GC13M066891', 'score': 0.28}, {'connected_gene': 'PCDH9-AS3', 'score': 0.26}, {'connected_gene': 'GC13M066851', 'score': 0.21}, {'connected_gene': 'PCDH9', 'score': 0.06}]
chr13 GH13I066405 66405128 66407790 0.52 [{'connected_gene': 'GC13M066408', 'score': 0.77}, {'connected_gene': 'PCDH9-AS1', 'score': 0.15}, {'connected_gene': 'PCDH9', 'score': 0.03}]