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
ENST00000376414 [[99946783, 99948417], [99959593, 99959659]] [[99947313, 99948399]]
NM_004951 [[99946788, 99948417], [99959593, 99959749]] [[99947313, 99948399]]
Promoter
Chrom Start End Description
chr13 99948360 99948387 CAGE_peak_5_at_GPR183_5end
chr13 99959625 99959636 CAGE_peak_3_at_GPR183_5end
chr13 99959641 99959660 CAGE_peak_1_at_GPR183_5end
chr13 99959671 99959686 CAGE_peak_2_at_GPR183_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I099499 99499931 99503521 2.49 [{'connected_gene': 'TM9SF2', 'score': 555.28}, {'connected_gene': 'LINC00449', 'score': 550.77}, {'connected_gene': 'STK24-AS1', 'score': 11.08}, {'connected_gene': 'GPR183', 'score': 7.95}, {'connected_gene': 'ENSG00000280710', 'score': 0.77}, {'connected_gene': 'GC13P099488', 'score': 0.39}, {'connected_gene': 'RNY3P6', 'score': 0.29}, {'connected_gene': 'GC13M099538', 'score': 0.29}]
chr13 GH13I098647 98647157 98652385 1.14 [{'connected_gene': 'STK24', 'score': 11.9}, {'connected_gene': 'STK24-AS1', 'score': 11.9}, {'connected_gene': 'SLC15A1', 'score': 5.96}, {'connected_gene': 'GPR183', 'score': 5.07}, {'connected_gene': 'CALM2P4', 'score': 0.44}, {'connected_gene': 'GC13P098672', 'score': 0.34}]
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 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 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 GH13I099317 99317987 99318089 0.4 [{'connected_gene': 'MIR623', 'score': 12.27}, {'connected_gene': 'GC13M099261', 'score': 0.77}, {'connected_gene': 'GPR183', 'score': 0.39}, {'connected_gene': 'UBAC2', 'score': 0.13}]
chr13 GH13I099316 99316767 99316916 0.51 [{'connected_gene': 'MIR623', 'score': 11.5}, {'connected_gene': 'GPR183', 'score': 0.44}, {'connected_gene': 'GC13M099261', 'score': 0.44}, {'connected_gene': 'UBAC2', 'score': 0.13}]
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 GH13I099226 99226402 99232800 1.48 [{'connected_gene': 'UBAC2', 'score': 8.39}, {'connected_gene': 'GPR183', 'score': 1.77}, {'connected_gene': 'H2AFZP3', 'score': 0.39}, {'connected_gene': 'GC13P099261', 'score': 0.29}]
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 GH13I099287 99287110 99290506 1.14 [{'connected_gene': 'UBAC2', 'score': 7.03}, {'connected_gene': 'GC13P099277', 'score': 0.39}, {'connected_gene': 'GPR183', 'score': 0.37}, {'connected_gene': 'GC13M099261', 'score': 0.29}]
chr13 GH13I099285 99285378 99286296 1.09 [{'connected_gene': 'UBAC2', 'score': 6.47}, {'connected_gene': 'GC13P099277', 'score': 0.44}, {'connected_gene': 'GPR183', 'score': 0.34}, {'connected_gene': 'GC13M099261', '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 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 GH13I098908 98908343 98911570 1.23 [{'connected_gene': 'DOCK9', 'score': 18.9}, {'connected_gene': 'SLC15A1', 'score': 8.69}, {'connected_gene': 'GPR183', 'score': 2.82}, {'connected_gene': 'STK24', 'score': 1.26}, {'connected_gene': 'GC13M098916', 'score': 0.44}, {'connected_gene': 'GC13P098878', '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 GH13I098657 98657829 98658595 0.38 [{'connected_gene': 'GPR183', 'score': 4.79}, {'connected_gene': 'GC13P098672', 'score': 0.39}, {'connected_gene': 'CALM2P4', 'score': 0.37}]
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 GH13I099421 99421777 99422959 1.16 [{'connected_gene': 'GPR183', 'score': 6.12}, {'connected_gene': 'CCR12P', 'score': 0.39}, {'connected_gene': 'GC13P099473', 'score': 0.23}]
chr13 GH13I099424 99423259 99423599 0.79 [{'connected_gene': 'GPR183', 'score': 2.75}, {'connected_gene': 'CCR12P', 'score': 0.39}, {'connected_gene': 'GC13P099473', 'score': 0.23}]
chr13 GH13I099403 99403499 99403932 0.64 [{'connected_gene': 'GPR183', 'score': 1.39}, {'connected_gene': 'GC13P099406', 'score': 0.77}, {'connected_gene': 'GC13P099385', 'score': 0.37}]
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 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 GH13I099350 99350900 99353430 0.74 [{'connected_gene': 'FKSG29', 'score': 550.77}, {'connected_gene': 'GPR183', 'score': 11.56}, {'connected_gene': 'UBAC2', 'score': 11.4}, {'connected_gene': 'GC13P099357', '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 GH13I099277 99277551 99278496 1.11 [{'connected_gene': 'GC13P099277', 'score': 550.77}, {'connected_gene': 'UBAC2', 'score': 17.28}, {'connected_gene': 'GPR183', 'score': 14.44}, {'connected_gene': 'MIR623', 'score': 11.88}, {'connected_gene': 'GC13M099261', 'score': 0.26}]
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 GH13I099278 99278801 99279200 0.51 [{'connected_gene': 'GC13P099277', 'score': 550.77}, {'connected_gene': 'GPR183', 'score': 11.58}, {'connected_gene': 'MIR623', 'score': 11.54}, {'connected_gene': 'UBAC2', 'score': 11.45}, {'connected_gene': 'GC13M099261', 'score': 0.26}]
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}]
chr13 GH13I099291 99291047 99291196 0.63 [{'connected_gene': 'GC13P099277', 'score': 0.39}, {'connected_gene': 'GPR183', 'score': 0.37}, {'connected_gene': 'GC13M099261', 'score': 0.29}, {'connected_gene': 'UBAC2', 'score': 0.16}]

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