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
ENST00000269221 [[21083472, 21083684], [21084334, 21084411], [21086933, 21087018], [21087948, 21088005], [21089156, 21089243], [21095819, 21095960], [21096283, 21096387], [21098853, 21098943], [21099032, 21099138], [21100165, 21100277], [21104093, 21104138], [21104392, 21104446], [21106600, 21106729], [21107758, 21107865], [21109142, 21109262], [21109598, 21109676], [21109991, 21110096], [21110192, 21110261], [21110350, 21110576], [21111588, 21111746]] [[21083582, 21083684], [21084334, 21084411], [21086933, 21087018], [21087948, 21088005], [21089156, 21089243], [21095819, 21095960], [21096283, 21096387], [21098853, 21098943], [21099032, 21099138], [21100165, 21100277], [21104093, 21104138], [21104392, 21104446], [21106600, 21106729], [21107758, 21107865], [21109142, 21109262], [21109598, 21109676], [21109991, 21110096], [21110192, 21110261], [21110350, 21110576], [21111588, 21111668]]
ENST00000589215 [[21083476, 21083684], [21084334, 21084411], [21087948, 21088005], [21089156, 21089243], [21095819, 21095960], [21096283, 21096387], [21098853, 21098943], [21099032, 21099138], [21100165, 21100277], [21104093, 21104138], [21104392, 21104446], [21106600, 21106729], [21107758, 21107865], [21109142, 21109262], [21109598, 21109676], [21109991, 21110096], [21110192, 21110261], [21110474, 21110576], [21111588, 21111742]] [[21083582, 21083684], [21084334, 21084411], [21087948, 21088005], [21089156, 21089178]]
ENST00000590868 [[21083482, 21083684], [21084334, 21084411], [21086933, 21087018], [21095819, 21095960], [21096283, 21096387], [21098853, 21098943], [21099032, 21099138], [21100165, 21100277], [21104093, 21104138], [21104392, 21104446], [21106600, 21106729], [21107758, 21107865], [21109142, 21109262], [21109598, 21109676], [21109991, 21110096], [21110192, 21110261], [21110350, 21110576], [21111588, 21111740]] [[21083582, 21083684], [21084334, 21084411], [21086933, 21087018], [21095819, 21095960], [21096283, 21096387], [21098853, 21098943], [21099032, 21099138], [21100165, 21100277], [21104093, 21104138], [21104392, 21104446], [21106600, 21106729], [21107758, 21107865], [21109142, 21109262], [21109598, 21109676], [21109991, 21110096], [21110192, 21110261], [21110350, 21110576], [21111588, 21111668]]
ENST00000590870 [[21083496, 21083684], [21084334, 21084411], [21086933, 21087018], [21087948, 21088005], [21089156, 21089243], [21095819, 21095960], [21096283, 21096387], [21098853, 21098943], [21099032, 21099138], [21100165, 21100277], [21104093, 21104122], [21104373, 21104446], [21106600, 21106729], [21107758, 21107865], [21109142, 21109262], [21109598, 21109676], [21109991, 21110096], [21110192, 21110261], [21110350, 21110576], [21111588, 21111707]] [[21083582, 21083684], [21084334, 21084411], [21086933, 21087018], [21087948, 21088005], [21089156, 21089243], [21095819, 21095960], [21096283, 21096387], [21098853, 21098943], [21099032, 21099138], [21100165, 21100277], [21104093, 21104122], [21104373, 21104385]]
ENST00000587153 [[21083482, 21083684], [21084334, 21084686]] None
ENST00000587690 [[21083483, 21083684], [21084334, 21084411], [21086933, 21087018], [21087948, 21088005], [21088618, 21088740], [21089156, 21089243], [21095819, 21095850]] [[21083582, 21083684], [21084334, 21084411], [21086933, 21087018], [21087948, 21088005], [21088618, 21088740], [21089156, 21089178]]
ENST00000589860 [[21083494, 21083684], [21084334, 21084411], [21089156, 21089243], [21095819, 21095960], [21096283, 21096387], [21098853, 21098943], [21099032, 21099130]] [[21083582, 21083684], [21084334, 21084411], [21089156, 21089178]]
ENST00000592119 [[21083498, 21083684], [21084334, 21084411], [21086933, 21087018], [21087948, 21088005], [21089156, 21089243], [21089568, 21089641]] [[21083582, 21083684], [21084334, 21084411], [21086933, 21087018], [21087948, 21088005], [21089156, 21089243], [21089568, 21089641]]
ENST00000590387 [[21107837, 21107865], [21109142, 21109446]] None
ENST00000591367 [[21109301, 21109386], [21109598, 21109676], [21109991, 21110096], [21110192, 21110261], [21110350, 21110576], [21111588, 21111746]] None
ENST00000593081 [[21109559, 21109676], [21109991, 21110096], [21110192, 21110261], [21110350, 21110576], [21111588, 21111746]] None
ENST00000592682 [[21109928, 21110096], [21110192, 21110261], [21110350, 21110500]] None
ENST00000589409 [[21109929, 21110096], [21110192, 21110576], [21111588, 21111743]] None
Promoter
Chrom Start End Description
chr18 21083437 21083510 CAGE_peak_1_at_C18orf8_5end
chr18 21083529 21083540 CAGE_peak_2_at_C18orf8_5end
chr18 21104030 21104064 CAGE_peak_3_at_C18orf8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I023384 23384817 23386760 0.84 [{'connected_gene': 'CABLES1', 'score': 11.34}, {'connected_gene': 'TMEM241', 'score': 11.0}, {'connected_gene': 'RMC1', 'score': 7.39}, {'connected_gene': 'NPC1', 'score': 5.6}, {'connected_gene': 'RIOK3', 'score': 4.43}, {'connected_gene': 'ENSG00000266495', 'score': 0.13}]
chr18 GH18I023224 23224199 23232776 1.7 [{'connected_gene': 'CABLES1', 'score': 11.34}, {'connected_gene': 'TMEM241', 'score': 7.56}, {'connected_gene': 'NPC1', 'score': 7.28}, {'connected_gene': 'RMC1', 'score': 5.34}, {'connected_gene': 'RBBP8', 'score': 5.08}, {'connected_gene': 'PIR48090', 'score': 0.44}, {'connected_gene': 'GC18M023230', 'score': 0.39}]
chr18 GH18I023271 23271087 23271217 0.24 [{'connected_gene': 'CABLES1', 'score': 10.69}, {'connected_gene': 'RBBP8', 'score': 6.5}, {'connected_gene': 'NPC1', 'score': 4.91}, {'connected_gene': 'RMC1', 'score': 2.02}, {'connected_gene': 'ENSG00000266495', 'score': 0.39}, {'connected_gene': 'TMEM241', 'score': 0.1}]
chr18 GH18I023450 23450906 23455477 2.28 [{'connected_gene': 'RIOK3', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 12.56}, {'connected_gene': 'TMEM241', 'score': 6.54}, {'connected_gene': 'GC18P023457', 'score': 0.77}]
chr18 GH18I023436 23436798 23438968 1.98 [{'connected_gene': 'TMEM241', 'score': 550.77}, {'connected_gene': 'NPC1', 'score': 10.27}, {'connected_gene': 'RMC1', 'score': 6.91}, {'connected_gene': 'ENSG00000266495', 'score': 0.1}]
chr18 GH18I023709 23709858 23712107 0.84 [{'connected_gene': 'RPL23AP77', 'score': 550.77}, {'connected_gene': 'LAMA3', 'score': 36.54}, {'connected_gene': 'RMC1', 'score': 12.54}, {'connected_gene': 'ANKRD29', 'score': 11.04}, {'connected_gene': 'GC18P023743', 'score': 0.29}]
chr18 GH18I022932 22932490 22935800 2.23 [{'connected_gene': 'RBBP8', 'score': 558.71}, {'connected_gene': 'ENSG00000265943', 'score': 550.77}, {'connected_gene': 'MIR4741', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 17.08}, {'connected_gene': 'LOC101927571', 'score': 12.1}, {'connected_gene': 'RN7SL745P', 'score': 0.19}]
chr18 GH18I023688 23688897 23690552 1.9 [{'connected_gene': 'LAMA3', 'score': 571.62}, {'connected_gene': 'RMC1', 'score': 17.13}, {'connected_gene': 'RPL23AP77', 'score': 0.34}]
chr18 GH18I023834 23834543 23836048 0.95 [{'connected_gene': 'LAMA3', 'score': 5.16}, {'connected_gene': 'NPC1', 'score': 2.46}, {'connected_gene': 'RMC1', 'score': 1.23}, {'connected_gene': 'GC18P023828', 'score': 0.44}, {'connected_gene': 'GC18M023960', 'score': 0.13}]
chr18 GH18I023478 23478875 23481558 0.82 [{'connected_gene': 'RMC1', 'score': 13.3}, {'connected_gene': 'RIOK3', 'score': 12.39}, {'connected_gene': 'TMEM241', 'score': 11.49}, {'connected_gene': 'PIR55902', 'score': 0.77}, {'connected_gene': 'GC18P023472', 'score': 0.44}]
chr18 GH18I023459 23459882 23462110 0.95 [{'connected_gene': 'RMC1', 'score': 19.79}, {'connected_gene': 'TMEM241', 'score': 11.83}, {'connected_gene': 'CABLES1', 'score': 10.11}, {'connected_gene': 'ENSG00000199357', 'score': 0.77}, {'connected_gene': 'RIOK3', 'score': 0.44}, {'connected_gene': 'GC18P023472', 'score': 0.39}]
chr18 GH18I023578 23578208 23581708 1.1 [{'connected_gene': 'RMC1', 'score': 26.66}, {'connected_gene': 'LAMA3', 'score': 10.67}, {'connected_gene': 'ANKRD29', 'score': 10.22}, {'connected_gene': 'TMEM241', 'score': 6.31}, {'connected_gene': 'GC18M023583', 'score': 0.77}, {'connected_gene': 'ENSG00000199366', 'score': 0.77}, {'connected_gene': 'NPC1', 'score': 0.44}]
chr18 GH18I023507 23507350 23509259 0.2 [{'connected_gene': 'RMC1', 'score': 22.25}, {'connected_gene': 'NPC1', 'score': 11.79}, {'connected_gene': 'CABLES1', 'score': 9.82}, {'connected_gene': 'ANKRD29', 'score': 9.75}, {'connected_gene': 'GC18M023583', 'score': 0.19}, {'connected_gene': 'ENSG00000199366', 'score': 0.19}]
chr18 GH18I023502 23502250 23505110 2.24 [{'connected_gene': 'RMC1', 'score': 582.95}, {'connected_gene': 'NPC1', 'score': 28.17}, {'connected_gene': 'TMEM241', 'score': 6.4}, {'connected_gene': 'GC18M023583', 'score': 0.18}, {'connected_gene': 'ENSG00000199366', 'score': 0.18}]
chr18 GH18I023537 23537462 23538957 0.65 [{'connected_gene': 'RMC1', 'score': 28.83}, {'connected_gene': 'NPC1', 'score': 12.12}, {'connected_gene': 'ANKRD29', 'score': 9.85}, {'connected_gene': 'GC18M023583', 'score': 0.26}, {'connected_gene': 'ENSG00000199366', 'score': 0.26}]
chr18 GH18I023523 23523531 23524371 0.79 [{'connected_gene': 'RMC1', 'score': 29.86}, {'connected_gene': 'NPC1', 'score': 28.54}, {'connected_gene': 'GC18M023583', 'score': 0.22}, {'connected_gene': 'ENSG00000199366', 'score': 0.22}]
chr18 GH18I023536 23536837 23536844 0.2 [{'connected_gene': 'RMC1', 'score': 0.29}, {'connected_gene': 'GC18M023583', 'score': 0.25}, {'connected_gene': 'ENSG00000199366', 'score': 0.25}, {'connected_gene': 'NPC1', 'score': 0.23}]
chr18 GH18I023563 23563757 23563926 0.51 [{'connected_gene': 'RMC1', 'score': 27.77}, {'connected_gene': 'GC18M023583', 'score': 0.37}, {'connected_gene': 'ENSG00000199366', 'score': 0.37}, {'connected_gene': 'NPC1', 'score': 0.34}]
chr18 GH18I023486 23486954 23489808 1.33 [{'connected_gene': 'RMC1', 'score': 12.37}, {'connected_gene': 'NPC1', 'score': 11.67}, {'connected_gene': 'ENSG00000283084', 'score': 0.77}]
chr18 GH18I023528 23528033 23530726 1.19 [{'connected_gene': 'RMC1', 'score': 29.36}, {'connected_gene': 'GC18M023583', 'score': 0.23}, {'connected_gene': 'ENSG00000199366', 'score': 0.23}, {'connected_gene': 'NPC1', 'score': 0.22}]
chr18 GH18I023545 23545759 23548769 0.74 [{'connected_gene': 'RMC1', 'score': 28.76}, {'connected_gene': 'ANKRD29', 'score': 10.35}, {'connected_gene': 'GC18M023583', 'score': 0.29}, {'connected_gene': 'ENSG00000199366', 'score': 0.29}, {'connected_gene': 'NPC1', 'score': 0.28}]
chr18 GH18I023071 23071119 23072199 1.07 [{'connected_gene': 'RMC1', 'score': 2.64}, {'connected_gene': 'GC18M023066', 'score': 0.26}, {'connected_gene': 'ENSG00000223023', 'score': 0.25}]
chr18 GH18I023505 23505617 23505786 0.92 [{'connected_gene': 'RMC1', 'score': 0.77}, {'connected_gene': 'GC18M023583', 'score': 0.18}, {'connected_gene': 'ENSG00000199366', 'score': 0.18}]
chr18 GH18I023490 23490013 23490869 0.49 [{'connected_gene': 'RMC1', 'score': 8.18}, {'connected_gene': 'ENSG00000283084', 'score': 0.44}]
chr18 GH18I023559 23559579 23562189 0.31 [{'connected_gene': 'NPC1', 'score': 24.13}, {'connected_gene': 'TMEM241', 'score': 6.31}, {'connected_gene': 'GC18M023583', 'score': 0.34}, {'connected_gene': 'ENSG00000199366', 'score': 0.34}, {'connected_gene': 'RMC1', 'score': 0.22}]
chr18 GH18I023500 23500596 23501382 0.2 [{'connected_gene': 'NPC1', 'score': 24.26}, {'connected_gene': 'TMEM241', 'score': 6.34}, {'connected_gene': 'RMC1', 'score': 0.77}, {'connected_gene': 'ENSG00000283084', 'score': 0.37}]
chr18 GH18I023514 23514970 23516706 1.03 [{'connected_gene': 'NPC1', 'score': 12.11}, {'connected_gene': 'TMEM241', 'score': 10.77}, {'connected_gene': 'ANKRD29', 'score': 10.43}, {'connected_gene': 'RMC1', 'score': 0.39}, {'connected_gene': 'GC18M023583', 'score': 0.2}, {'connected_gene': 'ENSG00000199366', 'score': 0.2}]
chr18 GH18I023420 23420874 23424141 1.45 [{'connected_gene': 'NPC1', 'score': 14.29}, {'connected_gene': 'RMC1', 'score': 13.39}, {'connected_gene': 'RIOK3', 'score': 12.03}, {'connected_gene': 'CABLES1', 'score': 10.72}, {'connected_gene': 'RBBP8', 'score': 4.49}, {'connected_gene': 'TMEM241', 'score': 0.37}, {'connected_gene': 'ENSG00000266495', 'score': 0.1}]
chr18 GH18I023494 23494891 23500211 1.16 [{'connected_gene': 'NPC1', 'score': 28.49}, {'connected_gene': 'RMC1', 'score': 22.14}, {'connected_gene': 'TMEM241', 'score': 6.41}, {'connected_gene': 'ENSG00000283084', 'score': 0.39}]
chr18 GH18I023551 23551692 23555115 0.43 [{'connected_gene': 'NPC1', 'score': 29.57}, {'connected_gene': 'RMC1', 'score': 28.47}, {'connected_gene': 'LAMA3', 'score': 10.78}, {'connected_gene': 'ANKRD29', 'score': 9.95}, {'connected_gene': 'TMEM241', 'score': 7.25}, {'connected_gene': 'GC18M023583', 'score': 0.31}, {'connected_gene': 'ENSG00000199366', 'score': 0.31}]
chr18 GH18I023567 23567843 23575819 1.27 [{'connected_gene': 'NPC1', 'score': 29.53}, {'connected_gene': 'RMC1', 'score': 20.28}, {'connected_gene': 'LAMA3', 'score': 10.65}, {'connected_gene': 'ANKRD29', 'score': 10.61}, {'connected_gene': 'TMEM241', 'score': 7.35}, {'connected_gene': 'GC18M023583', 'score': 0.39}, {'connected_gene': 'ENSG00000199366', 'score': 0.39}]
chr18 GH18I023582 23582078 23587902 2.59 [{'connected_gene': 'NPC1', 'score': 592.25}, {'connected_gene': 'RMC1', 'score': 28.8}, {'connected_gene': 'ANKRD29', 'score': 9.84}, {'connected_gene': 'CABLES1', 'score': 9.42}, {'connected_gene': 'TMEM241', 'score': 6.39}, {'connected_gene': 'CABYR', 'score': 5.56}, {'connected_gene': 'GC18M023583', 'score': 0.77}, {'connected_gene': 'ENSG00000199366', 'score': 0.77}, {'connected_gene': 'GC18P023587', 'score': 0.77}]
chr18 GH18I023539 23539755 23542847 1.26 [{'connected_gene': 'NPC1', 'score': 40.15}, {'connected_gene': 'RMC1', 'score': 29.2}, {'connected_gene': 'ANKRD29', 'score': 9.85}, {'connected_gene': 'GC18M023583', 'score': 0.26}, {'connected_gene': 'ENSG00000199366', 'score': 0.26}]
chr18 GH18I023610 23610967 23613019 0.43 [{'connected_gene': 'NPC1', 'score': 12.01}, {'connected_gene': 'ANKRD29', 'score': 11.54}, {'connected_gene': 'RMC1', 'score': 9.3}, {'connected_gene': 'GC18P023609', 'score': 0.77}, {'connected_gene': 'GC18M023644', 'score': 0.25}]
chr18 GH18I023592 23592337 23595226 1.27 [{'connected_gene': 'NPC1', 'score': 29.12}, {'connected_gene': 'ANKRD29', 'score': 10.91}, {'connected_gene': 'RMC1', 'score': 4.4}, {'connected_gene': 'GC18P023587', 'score': 0.44}, {'connected_gene': 'GC18P023609', 'score': 0.37}]
chr18 GH18I023596 23596362 23596534 0.48 [{'connected_gene': 'NPC1', 'score': 14.25}, {'connected_gene': 'ANKRD29', 'score': 10.91}, {'connected_gene': 'RMC1', 'score': 3.99}, {'connected_gene': 'GC18P023587', 'score': 0.44}, {'connected_gene': 'GC18P023609', 'score': 0.39}]
chr18 GH18I023512 23512817 23512966 0.51 [{'connected_gene': 'ANKRD29', 'score': 9.75}, {'connected_gene': 'CABLES1', 'score': 9.43}, {'connected_gene': 'RMC1', 'score': 0.44}, {'connected_gene': 'GC18M023583', 'score': 0.2}, {'connected_gene': 'ENSG00000199366', 'score': 0.2}, {'connected_gene': 'NPC1', 'score': 0.19}]
chr18 GH18I023511 23511661 23511923 0.44 [{'connected_gene': 'ANKRD29', 'score': 9.75}, {'connected_gene': 'CABLES1', 'score': 9.43}, {'connected_gene': 'RMC1', 'score': 2.18}, {'connected_gene': 'GC18M023583', 'score': 0.19}, {'connected_gene': 'ENSG00000199366', 'score': 0.19}, {'connected_gene': 'NPC1', 'score': 0.18}]
chr18 GH18I023524 23523082 23523147 0.4 [{'connected_gene': 'ANKRD29', 'score': 10.01}, {'connected_gene': 'RMC1', 'score': 0.37}, {'connected_gene': 'GC18M023583', 'score': 0.22}, {'connected_gene': 'ENSG00000199366', 'score': 0.22}, {'connected_gene': 'NPC1', 'score': 0.21}]
chr18 GH18I023662 23662309 23663171 1.85 [{'connected_gene': 'ANKRD29', 'score': 550.77}, {'connected_gene': 'GC18M023644', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 7.12}]
chr18 GH18I023972 23972300 23972974 0.87 [{'connected_gene': 'TTC39C', 'score': 12.3}, {'connected_gene': 'ANKRD29', 'score': 9.92}, {'connected_gene': 'RMC1', 'score': 1.65}, {'connected_gene': 'LOC105372023', 'score': 0.77}, {'connected_gene': 'ENSG00000265752', 'score': 0.44}]
chr18 GH18I023998 23998286 24004422 1.39 [{'connected_gene': 'TTC39C', 'score': 43.88}, {'connected_gene': 'TTC39C-AS1', 'score': 10.47}, {'connected_gene': 'LAMA3', 'score': 10.17}, {'connected_gene': 'CABYR', 'score': 9.68}, {'connected_gene': 'ANKRD29', 'score': 9.43}, {'connected_gene': 'RMC1', 'score': 1.59}]
chr18 GH18I024396 24396345 24399201 1.94 [{'connected_gene': 'OSBPL1A', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 13.48}, {'connected_gene': 'IMPACT', 'score': 8.84}, {'connected_gene': 'ENSG00000264365', 'score': 0.29}]
chr18 GH18I023457 23457801 23458400 0.51 [{'connected_gene': 'GC18P023457', 'score': 550.77}, {'connected_gene': 'ENSG00000199357', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 19.29}, {'connected_gene': 'RIOK3', 'score': 0.44}, {'connected_gene': 'GC18P023472', 'score': 0.39}]
chr18 GH18I023487 23486151 23486186 0.4 [{'connected_gene': 'ENSG00000283084', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 0.37}, {'connected_gene': 'RIOK3', 'score': 0.29}]

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