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
ENST00000397470 [[99906967, 99908160], [99910407, 99910682]] [[99907130, 99908126]]
ENST00000397473 [[99906967, 99908160], [99908581, 99908773], [99910407, 99910682]] [[99907130, 99908126]]
ENST00000340807 [[99906985, 99908160], [99910407, 99910840], [99913908, 99913998]] [[99907130, 99908126]]
ENST00000416594 [[99907832, 99908160], [99908581, 99908773], [99910407, 99910628]] [[99907832, 99908126]]
NM_005292 [[99906966, 99908160], [99908581, 99908773], [99910407, 99910682]] [[99907130, 99908126]]
NM_001098200 [[99906966, 99908160], [99910407, 99910682]] [[99907130, 99908126]]
Promoter
Chrom Start End Description
chr13 99910590 99910597 CAGE_peak_4_at_GPR18_5end
chr13 99910599 99910617 CAGE_peak_2_at_GPR18_5end
chr13 99910620 99910660 CAGE_peak_1_at_GPR18_5end
chr13 99910673 99910680 CAGE_peak_3_at_GPR18_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I098523 98522686 98525374 0.87 [{'connected_gene': 'STK24', 'score': 20.1}, {'connected_gene': 'STK24-AS1', 'score': 12.03}, {'connected_gene': 'GPR18', 'score': 5.3}, {'connected_gene': 'ENSG00000271437', 'score': 0.31}, {'connected_gene': 'GC13P098445', 'score': 0.18}]
chr13 GH13I099214 99214088 99216732 1.18 [{'connected_gene': 'H2AFZP3', 'score': 550.77}, {'connected_gene': 'GPR18', 'score': 14.77}, {'connected_gene': 'UBAC2', 'score': 8.6}, {'connected_gene': 'DOCK9', 'score': 2.08}, {'connected_gene': 'CLYBL', 'score': 1.75}, {'connected_gene': 'RN7SKP9', 'score': 0.44}]
chr13 GH13I099353 99353589 99362596 1.61 [{'connected_gene': 'MIR623', 'score': 550.77}, {'connected_gene': 'GC13P099357', 'score': 550.77}, {'connected_gene': 'GC13P099358', 'score': 550.77}, {'connected_gene': 'UBAC2', 'score': 18.38}, {'connected_gene': 'GPR18', 'score': 16.03}, {'connected_gene': 'GPR183', 'score': 13.36}, {'connected_gene': 'DOCK9', 'score': 3.45}, {'connected_gene': 'CLYBL', 'score': 2.46}, {'connected_gene': 'HMGB3P4', 'score': 0.39}]
chr13 GH13I099324 99324051 99326238 0.97 [{'connected_gene': 'MIR623', 'score': 12.44}, {'connected_gene': 'GPR18', 'score': 10.71}, {'connected_gene': 'UBAC2', 'score': 5.71}, {'connected_gene': 'GC13M099261', 'score': 0.77}, {'connected_gene': 'GC13M099346', 'score': 0.34}]
chr13 GH13I099419 99419537 99421121 1.47 [{'connected_gene': 'MIR623', 'score': 11.93}, {'connected_gene': 'GPR18', 'score': 11.8}, {'connected_gene': 'GPR183', 'score': 6.67}, {'connected_gene': 'TM9SF2', 'score': 5.28}, {'connected_gene': 'CCR12P', 'score': 0.39}, {'connected_gene': 'GC13P099473', 'score': 0.23}]
chr13 GH13I099294 99294243 99295016 0.72 [{'connected_gene': 'MIR623', 'score': 11.07}, {'connected_gene': 'GPR18', 'score': 10.71}, {'connected_gene': 'GPR183', 'score': 0.39}, {'connected_gene': 'GC13P099277', 'score': 0.37}, {'connected_gene': 'GC13M099261', 'score': 0.31}, {'connected_gene': 'UBAC2', 'score': 0.16}]
chr13 GH13I099296 99295167 99295316 0.51 [{'connected_gene': 'MIR623', 'score': 11.07}, {'connected_gene': 'GPR18', 'score': 10.71}, {'connected_gene': 'GPR183', 'score': 0.39}, {'connected_gene': 'GC13P099277', 'score': 0.37}, {'connected_gene': 'GC13M099261', 'score': 0.31}, {'connected_gene': 'UBAC2', 'score': 0.16}]
chr13 GH13I099292 99292917 99294016 0.69 [{'connected_gene': 'MIR623', 'score': 11.07}, {'connected_gene': 'GPR18', 'score': 10.71}, {'connected_gene': 'GPR183', 'score': 0.39}, {'connected_gene': 'GC13P099277', 'score': 0.37}, {'connected_gene': 'GC13M099261', 'score': 0.31}, {'connected_gene': 'UBAC2', 'score': 0.16}]
chr13 GH13I099378 99378571 99379806 0.72 [{'connected_gene': 'MIR623', 'score': 12.69}, {'connected_gene': 'GPR18', 'score': 10.46}, {'connected_gene': 'HMGB3P4', 'score': 0.44}, {'connected_gene': 'GC13P099385', 'score': 0.44}, {'connected_gene': 'UBAC2', 'score': 0.1}]
chr13 GH13I099265 99265967 99266116 0.74 [{'connected_gene': 'MIR623', 'score': 10.41}, {'connected_gene': 'DOCK9', 'score': 10.23}, {'connected_gene': 'GPR18', 'score': 0.77}, {'connected_gene': 'GC13P099277', 'score': 0.39}, {'connected_gene': 'GC13M099261', 'score': 0.22}, {'connected_gene': 'UBAC2', 'score': 0.2}]
chr13 GH13I099331 99331663 99333016 0.72 [{'connected_gene': 'MIR623', 'score': 12.78}, {'connected_gene': 'GPR183', 'score': 12.41}, {'connected_gene': 'UBAC2', 'score': 12.18}, {'connected_gene': 'GPR18', 'score': 5.36}, {'connected_gene': 'GC13M099261', 'score': 0.44}, {'connected_gene': 'GC13M099346', 'score': 0.39}]
chr13 GH13I099379 99379900 99384913 1.42 [{'connected_gene': 'UBAC2', 'score': 21.95}, {'connected_gene': 'GPR18', 'score': 15.46}, {'connected_gene': 'GPR183', 'score': 13.3}, {'connected_gene': 'MIR623', 'score': 12.66}, {'connected_gene': 'DOCK9', 'score': 3.02}, {'connected_gene': 'CLYBL', 'score': 1.56}, {'connected_gene': 'GC13P099385', 'score': 0.77}, {'connected_gene': 'HMGB3P4', 'score': 0.39}]
chr13 GH13I099279 99279442 99285033 1.57 [{'connected_gene': 'UBAC2', 'score': 19.5}, {'connected_gene': 'GPR183', 'score': 18.93}, {'connected_gene': 'MIR623', 'score': 12.18}, {'connected_gene': 'GPR18', 'score': 5.63}, {'connected_gene': 'DOCK9', 'score': 1.38}, {'connected_gene': 'GC13P099277', 'score': 0.77}, {'connected_gene': 'GC13M099261', 'score': 0.26}]
chr13 GH13I099269 99269602 99273963 1.41 [{'connected_gene': 'UBAC2', 'score': 20.6}, {'connected_gene': 'GPR183', 'score': 14.46}, {'connected_gene': 'MIR623', 'score': 11.87}, {'connected_gene': 'GPR18', 'score': 4.75}, {'connected_gene': 'GC13P099277', 'score': 0.44}, {'connected_gene': 'GC13M099261', 'score': 0.23}]
chr13 GH13I099362 99362822 99368977 1 [{'connected_gene': 'UBAC2', 'score': 19.9}, {'connected_gene': 'GPR183', 'score': 11.55}, {'connected_gene': 'GPR18', 'score': 10.53}, {'connected_gene': 'HMGB3P4', 'score': 0.44}, {'connected_gene': 'GC13P099358', 'score': 0.44}]
chr13 GH13I099198 99198121 99203176 2.27 [{'connected_gene': 'UBAC2', 'score': 568.42}, {'connected_gene': 'UBAC2-AS1', 'score': 550.77}, {'connected_gene': 'STK24-AS1', 'score': 32.48}, {'connected_gene': 'GPR18', 'score': 6.06}]
chr13 GH13I099436 99436601 99437495 1.38 [{'connected_gene': 'GPR18', 'score': 15.87}, {'connected_gene': 'TM9SF2', 'score': 11.72}, {'connected_gene': 'LINC00449', 'score': 11.72}, {'connected_gene': 'MIR623', 'score': 11.55}, {'connected_gene': 'STK24', 'score': 10.85}, {'connected_gene': 'CCR12P', 'score': 0.31}, {'connected_gene': 'GC13P099473', 'score': 0.28}]
chr13 GH13I099431 99431311 99436344 1.7 [{'connected_gene': 'GPR18', 'score': 16.2}, {'connected_gene': 'TM9SF2', 'score': 11.72}, {'connected_gene': 'LINC00449', 'score': 11.72}, {'connected_gene': 'MIR623', 'score': 11.55}, {'connected_gene': 'GPR183', 'score': 10.06}, {'connected_gene': 'CCR12P', 'score': 0.34}, {'connected_gene': 'GC13P099473', 'score': 0.26}]
chr13 GH13I099505 99505401 99508409 1.12 [{'connected_gene': 'GPR18', 'score': 10.38}, {'connected_gene': 'TM9SF2', 'score': 7.63}, {'connected_gene': 'DOCK9-AS2', 'score': 4.58}, {'connected_gene': 'GC13P099488', 'score': 0.37}, {'connected_gene': 'RNY3P6', 'score': 0.31}, {'connected_gene': 'GC13M099538', 'score': 0.31}]
chr13 GH13I099261 99261187 99261336 0.74 [{'connected_gene': 'GPR18', 'score': 550.77}, {'connected_gene': 'GC13P099261', 'score': 550.77}, {'connected_gene': 'H2AFZP3', 'score': 0.25}, {'connected_gene': 'UBAC2', 'score': 0.21}, {'connected_gene': 'GC13M099261', 'score': 0.21}]
chr13 GH13I099255 99255010 99260763 1.68 [{'connected_gene': 'GPR18', 'score': 555.35}, {'connected_gene': 'MIR623', 'score': 10.76}, {'connected_gene': 'UBAC2', 'score': 6.08}, {'connected_gene': 'GC13P099261', 'score': 0.77}, {'connected_gene': 'H2AFZP3', 'score': 0.26}]
chr13 GH13I099263 99263766 99264910 0.6 [{'connected_gene': 'GPR18', 'score': 550.77}, {'connected_gene': 'MIR623', 'score': 10.41}, {'connected_gene': 'DOCK9', 'score': 10.23}, {'connected_gene': 'GC13P099277', 'score': 0.39}, {'connected_gene': 'GC13M099261', 'score': 0.22}, {'connected_gene': 'UBAC2', 'score': 0.21}]
chr13 GH13I099413 99413364 99414383 0.83 [{'connected_gene': 'GPR18', 'score': 15.13}, {'connected_gene': 'MIR623', 'score': 11.94}, {'connected_gene': 'CCR12P', 'score': 0.77}, {'connected_gene': 'GC13P099473', 'score': 0.21}]
chr13 GH13I099415 99415164 99418326 0.94 [{'connected_gene': 'GPR18', 'score': 14.79}, {'connected_gene': 'MIR623', 'score': 11.93}, {'connected_gene': 'CCR12P', 'score': 0.44}, {'connected_gene': 'GC13P099473', 'score': 0.22}]
chr13 GH13I099373 99373260 99377612 1.49 [{'connected_gene': 'GPR18', 'score': 13.6}, {'connected_gene': 'UBAC2', 'score': 9.83}, {'connected_gene': 'GPR183', 'score': 4.49}, {'connected_gene': 'HMGB3P4', 'score': 0.77}, {'connected_gene': 'GC13P099385', 'score': 0.44}]
chr13 GH13I099196 99196434 99197824 0.66 [{'connected_gene': 'GPR18', 'score': 13.01}, {'connected_gene': 'UBAC2', 'score': 6.48}, {'connected_gene': 'UBAC2-AS1', 'score': 0.77}, {'connected_gene': 'GC13P099191', 'score': 0.44}]
chr13 GH13I099338 99338799 99340690 0.91 [{'connected_gene': 'GPR18', 'score': 10.2}, {'connected_gene': 'UBAC2', 'score': 8.25}, {'connected_gene': 'GC13M099346', 'score': 0.44}, {'connected_gene': 'GC13M099261', 'score': 0.37}]
chr13 GH13I099340 99340847 99340996 0.4 [{'connected_gene': 'GPR18', 'score': 10.2}, {'connected_gene': 'GC13M099346', 'score': 0.44}, {'connected_gene': 'GC13M099261', 'score': 0.37}, {'connected_gene': 'UBAC2', 'score': 0.11}]
chr13 GH13I099225 99225080 99226199 0.58 [{'connected_gene': 'GPR18', 'score': 12.45}, {'connected_gene': 'DOCK9', 'score': 10.13}, {'connected_gene': 'UBAC2', 'score': 8.32}, {'connected_gene': 'H2AFZP3', 'score': 0.44}, {'connected_gene': 'GC13P099261', 'score': 0.28}]
chr13 GH13I099119 99119760 99120113 0.42 [{'connected_gene': 'GPR18', 'score': 4.98}, {'connected_gene': 'DOCK9', 'score': 0.29}, {'connected_gene': 'RPS6P23', 'score': 0.23}]
chr13 GH13I099453 99453126 99453375 0.81 [{'connected_gene': 'GPR18', 'score': 10.19}, {'connected_gene': 'GC13P099473', 'score': 0.34}, {'connected_gene': 'CCR12P', 'score': 0.26}]
chr13 GH13I099180 99180449 99181135 0.4 [{'connected_gene': 'GPR18', 'score': 12.8}, {'connected_gene': 'RPS6P23', 'score': 0.44}, {'connected_gene': 'GAPDHP22', 'score': 0.39}]
chr13 GH13I099178 99178447 99179484 0.72 [{'connected_gene': 'GPR18', 'score': 12.8}, {'connected_gene': 'RPS6P23', 'score': 0.44}, {'connected_gene': 'GAPDHP22', 'score': 0.39}]
chr13 GH13I099176 99176482 99177200 0.99 [{'connected_gene': 'GPR18', 'score': 12.8}, {'connected_gene': 'RPS6P23', 'score': 0.77}, {'connected_gene': 'GAPDHP22', 'score': 0.39}]
chr13 GH13I099149 99149832 99152430 0.8 [{'connected_gene': 'DOCK9', 'score': 19.64}, {'connected_gene': 'GPR18', 'score': 10.9}, {'connected_gene': 'RPS6P23', 'score': 0.34}]
chr13 GH13I098994 98994352 98995535 0.58 [{'connected_gene': 'DOCK9', 'score': 12.43}, {'connected_gene': 'RNU6-83P', 'score': 12.01}, {'connected_gene': 'DOCK9-AS2', 'score': 11.39}, {'connected_gene': 'DOCK9-AS1', 'score': 10.44}, {'connected_gene': 'UBAC2', 'score': 2.29}, {'connected_gene': 'GPR18', 'score': 1.57}, {'connected_gene': 'GC13P098992', 'score': 0.77}, {'connected_gene': 'GC13P098991', 'score': 0.77}, {'connected_gene': 'GC13P099026', 'score': 0.29}]
chr13 GH13I099423 99423770 99426784 1.39 [{'connected_gene': 'GPR183', 'score': 8.33}, {'connected_gene': 'TM9SF2', 'score': 5.15}, {'connected_gene': 'GPR18', 'score': 4.93}, {'connected_gene': 'CCR12P', 'score': 0.37}, {'connected_gene': 'GC13P099473', 'score': 0.25}]
chr13 GH13I099295 99295533 99316394 2.67 [{'connected_gene': 'GPR183', 'score': 565.92}, {'connected_gene': 'MIR623', 'score': 11.96}, {'connected_gene': 'DOCK9', 'score': 8.59}, {'connected_gene': 'UBAC2', 'score': 8.4}, {'connected_gene': 'GPR18', 'score': 5.74}, {'connected_gene': 'CLYBL', 'score': 1.89}, {'connected_gene': 'GC13M099261', 'score': 0.37}, {'connected_gene': 'GC13P099277', 'score': 0.31}]
chr13 GH13I099274 99274519 99275467 0.58 [{'connected_gene': 'GPR183', 'score': 12.09}, {'connected_gene': 'UBAC2', 'score': 11.99}, {'connected_gene': 'MIR623', 'score': 11.87}, {'connected_gene': 'GC13P099277', 'score': 0.77}, {'connected_gene': 'GPR18', 'score': 0.39}, {'connected_gene': 'GC13M099261', 'score': 0.25}]
chr13 GH13I099605 99605224 99607576 2.01 [{'connected_gene': 'CLYBL', 'score': 556.47}, {'connected_gene': 'LOC105370332', 'score': 550.77}, {'connected_gene': 'GPR18', 'score': 9.34}, {'connected_gene': 'TM9SF2', 'score': 4.57}, {'connected_gene': 'GC13M099598', 'score': 0.44}]
chr13 GH13I099217 99217033 99224723 1.08 [{'connected_gene': 'STK24-AS1', 'score': 19.13}, {'connected_gene': 'GPR18', 'score': 12.89}, {'connected_gene': 'DOCK9', 'score': 10.35}, {'connected_gene': 'UBAC2', 'score': 9.31}, {'connected_gene': 'H2AFZP3', 'score': 0.44}, {'connected_gene': 'GC13P099261', 'score': 0.26}]
chr13 GH13I099370 99370211 99371316 0.4 [{'connected_gene': 'HMGB3P4', 'score': 550.77}, {'connected_gene': 'UBAC2', 'score': 16.39}, {'connected_gene': 'GPR183', 'score': 11.54}, {'connected_gene': 'GPR18', 'score': 4.99}, {'connected_gene': 'GC13P099358', 'score': 0.39}]
chr13 GH13I099371 99371842 99372705 0.81 [{'connected_gene': 'HMGB3P4', 'score': 550.77}, {'connected_gene': 'GPR183', 'score': 4.58}, {'connected_gene': 'DOCK9', 'score': 2.31}, {'connected_gene': 'UBAC2', 'score': 1.99}, {'connected_gene': 'GPR18', 'score': 1.85}, {'connected_gene': 'GC13P099385', 'score': 0.39}]
chr13 GH13I099094 99094204 99095084 0.2 [{'connected_gene': 'DOCK9-AS2', 'score': 19.93}, {'connected_gene': 'GPR18', 'score': 10.13}, {'connected_gene': 'DOCK9', 'score': 6.39}, {'connected_gene': 'RPS6P23', 'score': 0.18}]
chr13 GH13I099408 99408510 99410084 0.2 [{'connected_gene': 'CCR12P', 'score': 550.77}, {'connected_gene': 'GPR18', 'score': 15.76}, {'connected_gene': 'UBAC2', 'score': 7.37}, {'connected_gene': 'GC13P099473', 'score': 0.21}]
chr13 GH13I099351 99350227 99350850 0.2 [{'connected_gene': 'FKSG29', 'score': 550.77}, {'connected_gene': 'GPR183', 'score': 11.56}, {'connected_gene': 'UBAC2', 'score': 11.4}, {'connected_gene': 'GPR18', 'score': 10.19}, {'connected_gene': 'GC13M099346', 'score': 0.77}]
chr13 GH13I099319 99319480 99323877 1.54 [{'connected_gene': 'GC13M099261', 'score': 550.77}, {'connected_gene': 'MIR623', 'score': 12.29}, {'connected_gene': 'GPR18', 'score': 10.72}, {'connected_gene': 'UBAC2', 'score': 7.13}, {'connected_gene': 'GPR183', 'score': 5.75}]
chr13 GH13I099344 99344687 99345779 0.31 [{'connected_gene': 'GC13M099346', 'score': 550.77}, {'connected_gene': 'UBAC2', 'score': 19.19}, {'connected_gene': 'GPR183', 'score': 11.27}, {'connected_gene': 'GPR18', 'score': 10.2}, {'connected_gene': 'GC13M099261', 'score': 0.34}]
chr13 GH13I099276 99276867 99277016 0.4 [{'connected_gene': 'GC13P099277', 'score': 550.77}, {'connected_gene': 'GPR183', 'score': 12.09}, {'connected_gene': 'UBAC2', 'score': 11.98}, {'connected_gene': 'MIR623', 'score': 11.88}, {'connected_gene': 'GPR18', 'score': 0.39}, {'connected_gene': 'GC13M099261', 'score': 0.25}]
chr13 GH13I099347 99347533 99348678 0.77 [{'connected_gene': 'GC13M099346', 'score': 550.77}, {'connected_gene': 'GPR183', 'score': 11.26}, {'connected_gene': 'UBAC2', 'score': 11.11}, {'connected_gene': 'GPR18', 'score': 10.19}, {'connected_gene': 'FKSG29', 'score': 0.77}]