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
ENST00000560281 [[66662264, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66795668]] [[66662988, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794732]]
ENST00000407092 [[66662531, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66798377, 66799890]] [[66662988, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66798377, 66798661]]
ENST00000272369 [[66662531, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66796181, 66796277], [66798377, 66801001]] [[66662988, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66796181, 66796240]]
ENST00000488550 [[66662689, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66799586]] [[66662988, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795911]]
ENST00000398506 [[66664524, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66798377, 66799590]] [[66664862, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66798377, 66798661]]
ENST00000444274 [[66664938, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66798377, 66798990]] [[66664952, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66775074, 66775091]]
ENST00000495021 [[66666452, 66666803], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66796181, 66796277], [66798377, 66798968]] [[66666759, 66666803], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66796181, 66796240]]
ENST00000409622 [[66667228, 66667477], [66670033, 66670180], [66691240, 66691352], [66739280, 66739323]] [[66667228, 66667243]]
ENST00000498705 [[66669906, 66670180], [66691240, 66691352], [66739280, 66739426]] None
ENST00000606455 [[66670096, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66789213, 66789251], [66794584, 66794643], [66795798, 66795846]] [[66670096, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66789213, 66789251], [66794584, 66794610]]
ENST00000475239 [[66672324, 66672428], [66681840, 66681926], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794632]] [[66672324, 66672428], [66681840, 66681920]]
ENST00000409517 [[66688929, 66689019], [66691240, 66691352], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66796181, 66796277], [66798377, 66798432]] None
ENST00000496248 [[66660583, 66660699], [66664868, 66665095], [66666974, 66667099]] None
ENST00000491706 [[66662300, 66663000], [66664868, 66665095], [66667693, 66667744], [66668545, 66668596], [66670033, 66670904]] [[66662988, 66663000], [66664868, 66665095], [66667693, 66667744], [66668545, 66668546]]
ENST00000490726 [[66664048, 66664075], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668572]] None
ENST00000437869 [[66667809, 66667862], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352]] [[66667809, 66667862], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352]]
ENST00000466811 [[66667838, 66668139], [66668545, 66668596], [66670033, 66670180], [66681840, 66681867]] [[66667838, 66667923]]
ENST00000542964 [[66723157, 66723332], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66798377, 66798383]] [[66723157, 66723304]]
ENST00000450027 [[66736058, 66736255], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795877]] [[66736058, 66736255], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795877]]
NM_002398 [[66662531, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66796181, 66796277], [66798377, 66799891]] [[66662988, 66663000], [66664868, 66665095], [66666974, 66667116], [66667693, 66667744], [66668545, 66668596], [66670033, 66670180], [66691240, 66691352], [66739280, 66739426], [66775074, 66775151], [66794584, 66794643], [66795798, 66795888], [66796181, 66796240]]
Promoter
Chrom Start End Description
chr2 66662232 66662243 CAGE_peak_5_at_MEIS1_5end
chr2 66662249 66662267 CAGE_peak_2_at_MEIS1_5end
chr2 66662281 66662308 CAGE_peak_1_at_MEIS1_5end
chr2 66662396 66662407 CAGE_peak_4_at_MEIS1_5end
chr2 66662510 66662521 CAGE_peak_6_at_MEIS1_5end
chr2 66662697 66662711 CAGE_peak_8_at_MEIS1_5end
chr2 66662797 66662818 CAGE_peak_10_at_MEIS1_5end
chr2 66662895 66662907 CAGE_peak_3_at_MEIS1_5end
chr2 66666233 66666240 CAGE_peak_9_at_MEIS1_5end
chr2 66666432 66666462 CAGE_peak_7_at_MEIS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I066389 66389474 66391414 0.83 [{'connected_gene': 'MEIS1-AS3', 'score': 5.37}, {'connected_gene': 'LINC01873', 'score': 0.44}, {'connected_gene': 'MEIS1', 'score': 0.26}]
chr2 GH02I066424 66424539 66427981 1.2 [{'connected_gene': 'MEIS1-AS3', 'score': 25.56}, {'connected_gene': 'MEIS1', 'score': 2.54}, {'connected_gene': 'LINC01873', 'score': 0.26}]
chr2 GH02I066420 66420270 66422794 0.56 [{'connected_gene': 'MEIS1-AS3', 'score': 5.72}, {'connected_gene': 'MEIS1', 'score': 0.39}, {'connected_gene': 'LINC01873', 'score': 0.28}]
chr2 GH02I066422 66422839 66423479 0.2 [{'connected_gene': 'MEIS1-AS3', 'score': 5.76}, {'connected_gene': 'MEIS1', 'score': 0.39}, {'connected_gene': 'LINC01873', 'score': 0.28}]
chr2 GH02I066568 66568519 66570487 1.39 [{'connected_gene': 'MEIS1-AS3', 'score': 12.73}, {'connected_gene': 'MEIS1', 'score': 12.73}, {'connected_gene': 'MEIS1-AS2', 'score': 12.71}, {'connected_gene': 'GC02M066566', 'score': 0.77}, {'connected_gene': 'LINC01798', 'score': 0.77}]
chr2 GH02I066530 66530709 66530858 0.46 [{'connected_gene': 'MEIS1-AS3', 'score': 11.34}, {'connected_gene': 'MEIS1', 'score': 11.34}, {'connected_gene': 'MEIS1-AS2', 'score': 10.64}, {'connected_gene': 'GC02M066566', 'score': 0.28}, {'connected_gene': 'GC02P066470', 'score': 0.22}]
chr2 GH02I066454 66454957 66458111 0.38 [{'connected_gene': 'MEIS1-AS3', 'score': 25.64}, {'connected_gene': 'MEIS1', 'score': 11.99}, {'connected_gene': 'GC02P066470', 'score': 0.39}, {'connected_gene': 'MEIS1-AS2', 'score': 0.39}]
chr2 GH02I066584 66584991 66586433 0.2 [{'connected_gene': 'MEIS1-AS3', 'score': 11.2}, {'connected_gene': 'MEIS1', 'score': 11.2}, {'connected_gene': 'LINC01798', 'score': 0.39}, {'connected_gene': 'LINC01797', 'score': 0.13}]
chr2 GH02I066561 66561659 66562708 0.96 [{'connected_gene': 'MEIS1-AS3', 'score': 10.63}, {'connected_gene': 'MEIS1', 'score': 10.63}, {'connected_gene': 'GC02M066566', 'score': 0.77}, {'connected_gene': 'GC02P066470', 'score': 0.16}]
chr2 GH02I066506 66506990 66510493 1.53 [{'connected_gene': 'MEIS1-AS3', 'score': 10.86}, {'connected_gene': 'MEIS1', 'score': 10.86}, {'connected_gene': 'GC02P066470', 'score': 0.28}, {'connected_gene': 'GC02M066566', 'score': 0.22}]
chr2 GH02I066482 66482319 66483358 0.2 [{'connected_gene': 'MEIS1-AS3', 'score': 17.92}, {'connected_gene': 'MEIS1-AS2', 'score': 11.79}, {'connected_gene': 'MEIS1', 'score': 11.78}, {'connected_gene': 'GC02P066470', 'score': 0.39}, {'connected_gene': 'GC02M066566', 'score': 0.18}]
chr2 GH02I066450 66450603 66452202 0.2 [{'connected_gene': 'MEIS1-AS3', 'score': 22.29}, {'connected_gene': 'MEIS1-AS2', 'score': 0.44}, {'connected_gene': 'GC02P066470', 'score': 0.37}, {'connected_gene': 'MEIS1', 'score': 0.37}]
chr2 GH02I066384 66384614 66384877 0.4 [{'connected_gene': 'LINC01873', 'score': 550.77}, {'connected_gene': 'MEIS1', 'score': 0.25}]
chr2 GH02I066535 66535383 66537956 1.52 [{'connected_gene': 'MEIS1', 'score': 16.69}, {'connected_gene': 'MEIS1-AS3', 'score': 11.33}, {'connected_gene': 'MEIS1-AS2', 'score': 10.63}, {'connected_gene': 'GC02M066566', 'score': 0.29}, {'connected_gene': 'GC02P066470', 'score': 0.2}]
chr2 GH02I066430 66430540 66448896 2.8 [{'connected_gene': 'MEIS1', 'score': 550.44}, {'connected_gene': 'ETAA1', 'score': 37.2}, {'connected_gene': 'MEIS1-AS3', 'score': 25.81}, {'connected_gene': 'MEIS1-AS2', 'score': 0.77}]
chr2 GH02I066888 66888460 66890160 0.72 [{'connected_gene': 'MEIS1', 'score': 4.43}, {'connected_gene': 'ENSG00000230355', 'score': 0.44}, {'connected_gene': 'LINC01799', 'score': 0.37}]
chr2 GH02I066572 66572905 66584412 2.15 [{'connected_gene': 'MEIS1', 'score': 17.36}, {'connected_gene': 'MEIS1-AS2', 'score': 12.28}, {'connected_gene': 'MEIS1-AS3', 'score': 12.12}, {'connected_gene': 'LINC01798', 'score': 0.77}, {'connected_gene': 'LINC01797', 'score': 0.13}]
chr2 GH02I066522 66522407 66523799 1.15 [{'connected_gene': 'MEIS1', 'score': 15.96}, {'connected_gene': 'MEIS1-AS2', 'score': 10.84}, {'connected_gene': 'GC02M066566', 'score': 0.26}, {'connected_gene': 'GC02P066470', 'score': 0.23}]
chr2 GH02I066553 66553509 66556775 1.2 [{'connected_gene': 'MEIS1', 'score': 17.3}, {'connected_gene': 'MEIS1-AS2', 'score': 11.29}, {'connected_gene': 'GC02M066566', 'score': 0.39}, {'connected_gene': 'GC02P066470', 'score': 0.18}]
chr2 GH02I066872 66872078 66873472 0.31 [{'connected_gene': 'MEIS1', 'score': 6.23}, {'connected_gene': 'ENSG00000230355', 'score': 0.44}, {'connected_gene': 'GC02P066843', 'score': 0.31}]
chr2 GH02I066853 66853513 66855078 0.31 [{'connected_gene': 'MEIS1', 'score': 6.73}, {'connected_gene': 'GC02P066843', 'score': 0.39}, {'connected_gene': 'ENSG00000230355', 'score': 0.31}]
chr2 GH02I066868 66868155 66870109 0.31 [{'connected_gene': 'LINC01799', 'score': 10.4}, {'connected_gene': 'MEIS1', 'score': 7.77}, {'connected_gene': 'ENSG00000230355', 'score': 0.39}, {'connected_gene': 'GC02P066843', 'score': 0.31}]
chr2 GH02I066487 66487300 66488311 0.31 [{'connected_gene': 'MEIS1-AS2', 'score': 11.78}, {'connected_gene': 'MEIS1', 'score': 11.76}, {'connected_gene': 'MEIS1-AS3', 'score': 11.4}, {'connected_gene': 'GC02P066470', 'score': 0.37}, {'connected_gene': 'GC02M066566', 'score': 0.18}]
chr2 GH02I066478 66478869 66479058 0.46 [{'connected_gene': 'MEIS1-AS2', 'score': 12.25}, {'connected_gene': 'MEIS1', 'score': 12.22}, {'connected_gene': 'MEIS1-AS3', 'score': 12.0}, {'connected_gene': 'GC02P066470', 'score': 0.44}, {'connected_gene': 'GC02M066566', 'score': 0.17}]
chr2 GH02I066490 66489589 66489738 0.58 [{'connected_gene': 'MEIS1-AS2', 'score': 11.78}, {'connected_gene': 'MEIS1', 'score': 11.75}, {'connected_gene': 'MEIS1-AS3', 'score': 11.39}, {'connected_gene': 'GC02P066470', 'score': 0.37}, {'connected_gene': 'GC02M066566', 'score': 0.18}]
chr2 GH02I066483 66483434 66484327 0.2 [{'connected_gene': 'MEIS1-AS2', 'score': 11.79}, {'connected_gene': 'MEIS1', 'score': 11.76}, {'connected_gene': 'MEIS1-AS3', 'score': 11.4}, {'connected_gene': 'GC02P066470', 'score': 0.39}, {'connected_gene': 'GC02M066566', 'score': 0.18}]
chr2 GH02I066480 66480789 66482031 1.33 [{'connected_gene': 'MEIS1-AS2', 'score': 11.81}, {'connected_gene': 'MEIS1', 'score': 11.78}, {'connected_gene': 'MEIS1-AS3', 'score': 11.41}, {'connected_gene': 'GC02P066470', 'score': 0.39}, {'connected_gene': 'GC02M066566', 'score': 0.17}]
chr2 GH02I066489 66489009 66489158 0.4 [{'connected_gene': 'MEIS1-AS2', 'score': 11.78}, {'connected_gene': 'MEIS1', 'score': 11.75}, {'connected_gene': 'MEIS1-AS3', 'score': 11.39}, {'connected_gene': 'GC02P066470', 'score': 0.37}, {'connected_gene': 'GC02M066566', 'score': 0.18}]
chr2 GH02I066476 66476962 66478418 0.83 [{'connected_gene': 'MEIS1-AS2', 'score': 12.25}, {'connected_gene': 'MEIS1', 'score': 12.23}, {'connected_gene': 'MEIS1-AS3', 'score': 12.02}, {'connected_gene': 'GC02P066470', 'score': 0.44}, {'connected_gene': 'GC02M066566', 'score': 0.17}]
chr2 GH02I066475 66475366 66476853 0.2 [{'connected_gene': 'MEIS1-AS2', 'score': 12.26}, {'connected_gene': 'MEIS1', 'score': 12.23}, {'connected_gene': 'MEIS1-AS3', 'score': 12.02}, {'connected_gene': 'GC02P066470', 'score': 0.44}, {'connected_gene': 'GC02M066566', 'score': 0.16}]
chr2 GH02I066491 66490151 66491547 0.89 [{'connected_gene': 'MEIS1-AS2', 'score': 11.78}, {'connected_gene': 'MEIS1', 'score': 11.75}, {'connected_gene': 'MEIS1-AS3', 'score': 11.39}, {'connected_gene': 'GC02P066470', 'score': 0.34}, {'connected_gene': 'GC02M066566', 'score': 0.18}]
chr2 GH02I066474 66474295 66474963 0.2 [{'connected_gene': 'MEIS1-AS2', 'score': 12.26}, {'connected_gene': 'MEIS1', 'score': 12.23}, {'connected_gene': 'MEIS1-AS3', 'score': 12.02}, {'connected_gene': 'GC02P066470', 'score': 0.77}, {'connected_gene': 'GC02M066566', 'score': 0.16}]
chr2 GH02I066494 66494042 66497211 1.48 [{'connected_gene': 'MEIS1-AS2', 'score': 10.83}, {'connected_gene': 'MEIS1', 'score': 10.81}, {'connected_gene': 'GC02P066470', 'score': 0.34}, {'connected_gene': 'GC02M066566', 'score': 0.19}]
chr2 GH02I066538 66538990 66540167 0.58 [{'connected_gene': 'MEIS1-AS2', 'score': 10.36}, {'connected_gene': 'MEIS1', 'score': 10.35}, {'connected_gene': 'GC02M066566', 'score': 0.31}, {'connected_gene': 'GC02P066470', 'score': 0.2}]
chr2 GH02I066527 66527257 66527955 0.31 [{'connected_gene': 'MEIS1-AS2', 'score': 10.63}, {'connected_gene': 'MEIS1', 'score': 10.63}, {'connected_gene': 'GC02M066566', 'score': 0.28}, {'connected_gene': 'GC02P066470', 'score': 0.22}]
chr2 GH02I066571 66571911 66572748 0.6 [{'connected_gene': 'LINC01798', 'score': 550.77}, {'connected_gene': 'GC02M066566', 'score': 0.44}, {'connected_gene': 'MEIS1', 'score': 0.12}]
chr2 GH02I066525 66525613 66526479 0.59 [{'connected_gene': 'GC02M066566', 'score': 0.26}, {'connected_gene': 'GC02P066470', 'score': 0.22}, {'connected_gene': 'MEIS1', 'score': 0.16}]
chr2 GH02I066470 66470900 66471104 0.6 [{'connected_gene': 'GC02P066470', 'score': 550.77}, {'connected_gene': 'MEIS1', 'score': 0.28}, {'connected_gene': 'GC02M066566', 'score': 0.15}]
chr2 GH02I066567 66567169 66567318 0.82 [{'connected_gene': 'GC02M066566', 'score': 550.77}, {'connected_gene': 'MEIS1-AS2', 'score': 11.67}, {'connected_gene': 'MEIS1', 'score': 11.66}, {'connected_gene': 'LINC01798', 'score': 0.44}]
chr2 GH02I066461 66461646 66462125 0.6 [{'connected_gene': 'GC02P066470', 'score': 0.44}, {'connected_gene': 'MEIS1-AS2', 'score': 0.34}, {'connected_gene': 'MEIS1', 'score': 0.31}]
chr2 GH02I066463 66463506 66467156 0.69 [{'connected_gene': 'GC02P066470', 'score': 0.44}, {'connected_gene': 'MEIS1-AS2', 'score': 0.34}, {'connected_gene': 'MEIS1', 'score': 0.29}]
chr2 GH02I066467 66467693 66469030 0.2 [{'connected_gene': 'GC02P066470', 'score': 0.77}, {'connected_gene': 'MEIS1-AS2', 'score': 0.31}, {'connected_gene': 'MEIS1', 'score': 0.29}]
chr2 GH02I066462 66462359 66462702 0.78 [{'connected_gene': 'GC02P066470', 'score': 0.44}, {'connected_gene': 'MEIS1-AS2', 'score': 0.34}, {'connected_gene': 'MEIS1', 'score': 0.31}]
chr2 GH02I066573 66571680 66571902 0.4 [{'connected_gene': 'GC02M066566', 'score': 0.77}, {'connected_gene': 'LINC01798', 'score': 0.77}, {'connected_gene': 'MEIS1', 'score': 0.12}]

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