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
ENST00000540180 [[498513, 498652], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551170]] [[520970, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551086]]
ENST00000422000 [[498515, 498652], [514676, 514730], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551804]] [[520970, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551086]]
ENST00000535052 [[498527, 498693], [504289, 504387], [518533, 518587], [520912, 521144], [527659, 527665]] [[518549, 518587], [520912, 521144], [527659, 527665]]
ENST00000543504 [[498560, 498652], [514676, 514730], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550096]] [[520970, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550096]]
ENST00000540344 [[498584, 498652], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [542572, 542646]] None
ENST00000239830 [[510741, 510850], [514676, 514730], [518533, 518587], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551811]] [[518549, 518587], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551086]]
ENST00000412006 [[510802, 510850], [514676, 514730], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551808]] [[520970, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551086]]
ENST00000538160 [[510827, 510850], [514676, 514730], [518533, 518587], [520912, 521144], [527659, 528047]] None
ENST00000537453 [[498438, 498652], [499137, 499291]] None
ENST00000535959 [[510816, 510850], [514676, 514730], [518533, 518947]] None
ENST00000540118 [[542376, 542488], [547500, 547777]] None
ENST00000537286 [[547626, 547720], [550939, 551551]] None
NM_001130148 [[498515, 498652], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551808]] [[520970, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551086]]
NM_001130147 [[498515, 498652], [514676, 514730], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551808]] [[520970, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551086]]
NM_001130146 [[510740, 510850], [514676, 514730], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551808]] [[520970, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551086]]
NM_032358 [[510740, 510850], [514676, 514730], [518533, 518587], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551808]] [[518549, 518587], [520912, 521144], [527659, 527802], [537934, 538031], [539829, 539902], [541031, 541120], [542339, 542488], [547500, 547720], [549782, 549908], [550009, 550162], [550939, 551086]]
Promoter
Chrom Start End Description
chr12 498500 498529 CAGE_peak_2_at_CCDC77_5end
chr12 498545 498569 CAGE_peak_3_at_CCDC77_5end
chr12 510764 510782 CAGE_peak_5_at_CCDC77_5end
chr12 510795 510835 CAGE_peak_1_at_CCDC77_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I000386 386481 390506 2.09 [{'connected_gene': 'CCDC77', 'score': 577.13}, {'connected_gene': 'KDM5A', 'score': 573.97}, {'connected_gene': 'ENSG00000261799', 'score': 13.45}, {'connected_gene': 'IQSEC3', 'score': 12.64}, {'connected_gene': 'RAD52', 'score': 9.94}, {'connected_gene': 'ENSG00000250132', 'score': 9.87}, {'connected_gene': 'GC12M000384', 'score': 0.44}, {'connected_gene': 'LOC105369594', 'score': 0.39}, {'connected_gene': 'PIR47780', 'score': 0.28}]
chr12 GH12I000685 684088 686967 1.46 [{'connected_gene': 'CCDC77', 'score': 4.48}, {'connected_gene': 'KDM5A', 'score': 3.97}, {'connected_gene': 'GC12M000680', 'score': 0.77}, {'connected_gene': 'PIR42004', 'score': 0.39}, {'connected_gene': 'GC12M000678', 'score': 0.39}, {'connected_gene': 'LINC02455', 'score': 0.29}]
chr12 GH12I000406 406166 409490 1.55 [{'connected_gene': 'CCDC77', 'score': 18.58}, {'connected_gene': 'RAD52', 'score': 14.17}, {'connected_gene': 'B4GALNT3', 'score': 11.71}, {'connected_gene': 'SLC6A13', 'score': 10.68}, {'connected_gene': 'LOC102723544', 'score': 10.68}, {'connected_gene': 'LOC105369594', 'score': 0.44}, {'connected_gene': 'PIR37877', 'score': 0.37}]
chr12 GH12I001304 1304415 1304564 0.93 [{'connected_gene': 'CCDC77', 'score': 10.63}, {'connected_gene': 'GC12P001311', 'score': 0.44}, {'connected_gene': 'GC12P001290', 'score': 0.39}, {'connected_gene': 'GC12M001240', 'score': 0.39}, {'connected_gene': 'ERC1', 'score': 0.06}]
chr12 GH12I000211 211801 214400 1.96 [{'connected_gene': 'SLC6A12', 'score': 569.13}, {'connected_gene': 'KDM5A', 'score': 1.71}, {'connected_gene': 'CCDC77', 'score': 1.47}, {'connected_gene': 'LOC101929384', 'score': 0.44}]
chr12 GH12I000749 749166 756201 2.64 [{'connected_gene': 'WNK1', 'score': 552.28}, {'connected_gene': 'GC12M000753', 'score': 550.77}, {'connected_gene': 'RAD52', 'score': 36.08}, {'connected_gene': 'CCDC77', 'score': 26.01}, {'connected_gene': 'KDM5A', 'score': 15.16}, {'connected_gene': 'ERC1', 'score': 13.0}, {'connected_gene': 'ENSG00000261799', 'score': 11.02}, {'connected_gene': 'NINJ2', 'score': 6.22}]
chr12 GH12I001202 1202861 1206212 1.14 [{'connected_gene': 'RAD52', 'score': 51.03}, {'connected_gene': 'CCDC77', 'score': 25.02}, {'connected_gene': 'ENSG00000261799', 'score': 23.11}, {'connected_gene': 'DCP1B', 'score': 22.63}, {'connected_gene': 'ERC1', 'score': 13.01}, {'connected_gene': 'KDM5A', 'score': 9.86}, {'connected_gene': 'ENSG00000249028', 'score': 7.81}, {'connected_gene': 'GC12P001195', 'score': 0.44}, {'connected_gene': 'GC12M001280', 'score': 0.18}]
chr12 GH12I000988 988672 993051 2.07 [{'connected_gene': 'RAD52', 'score': 579.74}, {'connected_gene': 'ERC1', 'score': 567.24}, {'connected_gene': 'ENSG00000250132', 'score': 550.77}, {'connected_gene': 'KDM5A', 'score': 26.53}, {'connected_gene': 'ENSG00000261799', 'score': 22.35}, {'connected_gene': 'CCDC77', 'score': 15.9}, {'connected_gene': 'LINC00942', 'score': 9.75}, {'connected_gene': 'WNT5B', 'score': 5.19}, {'connected_gene': 'GC12P000986', 'score': 0.77}]
chr12 GH12I000580 580681 582380 0.77 [{'connected_gene': 'RAD52', 'score': 40.86}, {'connected_gene': 'ENSG00000261799', 'score': 35.2}, {'connected_gene': 'LOC105369595', 'score': 20.15}, {'connected_gene': 'IQSEC3', 'score': 12.62}, {'connected_gene': 'CCDC77', 'score': 11.0}, {'connected_gene': 'ERC1', 'score': 10.42}, {'connected_gene': 'LOC100049716', 'score': 6.25}, {'connected_gene': 'PIR38262', 'score': 0.77}, {'connected_gene': 'GC12M000554', 'score': 0.39}, {'connected_gene': 'NINJ2', 'score': 0.18}]
chr12 GH12I000590 590875 593042 1.38 [{'connected_gene': 'LOC105369595', 'score': 575.87}, {'connected_gene': 'ENSG00000255825', 'score': 550.77}, {'connected_gene': 'PIR50035', 'score': 550.77}, {'connected_gene': 'GC12P000592', 'score': 550.77}, {'connected_gene': 'CCDC77', 'score': 10.69}, {'connected_gene': 'LOC100049716', 'score': 9.9}, {'connected_gene': 'GC12M000616', 'score': 0.31}, {'connected_gene': 'NINJ2', 'score': 0.19}]
chr12 GH12I000400 400802 402854 2.04 [{'connected_gene': 'LOC105369594', 'score': 550.77}, {'connected_gene': 'CCDC77', 'score': 550.39}, {'connected_gene': 'KDM5A', 'score': 22.43}, {'connected_gene': 'ENSG00000256948', 'score': 4.4}, {'connected_gene': 'PIR37877', 'score': 0.31}]
chr12 GH12I000681 681739 683261 1.1 [{'connected_gene': 'LOC100049716', 'score': 5.0}, {'connected_gene': 'CCDC77', 'score': 2.7}, {'connected_gene': 'KDM5A', 'score': 2.22}, {'connected_gene': 'PIR42004', 'score': 0.44}, {'connected_gene': 'GC12M000680', 'score': 0.44}, {'connected_gene': 'GC12M000678', 'score': 0.44}, {'connected_gene': 'LINC02455', 'score': 0.29}]
chr12 GH12I000615 615299 618324 1.6 [{'connected_gene': 'LOC100049716', 'score': 31.1}, {'connected_gene': 'KDM5A', 'score': 16.26}, {'connected_gene': 'WNK1', 'score': 15.21}, {'connected_gene': 'LOC105369595', 'score': 10.82}, {'connected_gene': 'NINJ2', 'score': 8.26}, {'connected_gene': 'CCDC77', 'score': 1.16}, {'connected_gene': 'GC12M000616', 'score': 0.77}]
chr12 GH12I000236 236773 238041 0.76 [{'connected_gene': 'GC12P000235', 'score': 550.77}, {'connected_gene': 'SLC6A13', 'score': 9.06}, {'connected_gene': 'CCDC77', 'score': 4.29}, {'connected_gene': 'GC12M000239', 'score': 0.77}]
chr12 GH12I000464 464588 466370 1.07 [{'connected_gene': 'PIR35231', 'score': 550.77}, {'connected_gene': 'B4GALNT3', 'score': 28.54}, {'connected_gene': 'CCDC77', 'score': 5.91}, {'connected_gene': 'GC12P000495', 'score': 0.31}]
chr12 GH12I000621 621401 623800 1.37 [{'connected_gene': 'GC12M000616', 'score': 550.77}, {'connected_gene': 'LOC100049716', 'score': 31.3}, {'connected_gene': 'NINJ2', 'score': 21.08}, {'connected_gene': 'WNK1', 'score': 13.6}, {'connected_gene': 'KDM5A', 'score': 9.2}, {'connected_gene': 'CCDC77', 'score': 1.2}]

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