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
ENST00000315238 [[5566923, 5568225]] [[5567048, 5567498]]
NM_005185 [[5566851, 5568231]] [[5567048, 5567498]]
Promoter
Chrom Start End Description
chr10 5566916 5566932 CAGE_peak_1_at_CALML3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I005582 5582156 5591991 1.52 [{'connected_gene': 'FBXO18', 'score': 13.77}, {'connected_gene': 'FAM208B', 'score': 13.02}, {'connected_gene': 'LOC105376384', 'score': 12.71}, {'connected_gene': 'ENSG00000226647', 'score': 11.72}, {'connected_gene': 'CALML5', 'score': 11.64}, {'connected_gene': 'ENSG00000256462', 'score': 11.27}, {'connected_gene': 'CALML3', 'score': 11.27}, {'connected_gene': 'CALML3-AS1', 'score': 11.27}, {'connected_gene': 'LOC105376382', 'score': 8.2}, {'connected_gene': 'NET1', 'score': 6.76}, {'connected_gene': 'LOC102723629', 'score': 6.73}, {'connected_gene': 'ASB13', 'score': 6.46}, {'connected_gene': 'LOC105376381', 'score': 0.34}]
chr10 GH10I005528 5528800 5532870 0.73 [{'connected_gene': 'FBXO18', 'score': 15.68}, {'connected_gene': 'LOC105376384', 'score': 14.77}, {'connected_gene': 'FAM208B', 'score': 14.45}, {'connected_gene': 'RBM17', 'score': 12.12}, {'connected_gene': 'CALML5', 'score': 11.4}, {'connected_gene': 'ENSG00000226647', 'score': 10.83}, {'connected_gene': 'CALML3', 'score': 10.51}, {'connected_gene': 'CALML3-AS1', 'score': 10.24}, {'connected_gene': 'LOC105376380', 'score': 0.34}]
chr10 GH10I005503 5503018 5504441 1 [{'connected_gene': 'FBXO18', 'score': 15.13}, {'connected_gene': 'LOC105376384', 'score': 14.41}, {'connected_gene': 'FAM208B', 'score': 12.09}, {'connected_gene': 'ENSG00000226647', 'score': 12.05}, {'connected_gene': 'GDI2', 'score': 11.44}, {'connected_gene': 'CALML5', 'score': 11.24}, {'connected_gene': 'CALML3', 'score': 0.34}]
chr10 GH10I005494 5494583 5495018 0.38 [{'connected_gene': 'CALML3', 'score': 19.4}, {'connected_gene': 'CALML5', 'score': 8.08}, {'connected_gene': 'NET1', 'score': 0.18}]
chr10 GH10I005506 5506322 5510209 0.59 [{'connected_gene': 'CALML3', 'score': 6.23}, {'connected_gene': 'CALML5', 'score': 5.36}]
chr10 GH10I005511 5511551 5511711 0.64 [{'connected_gene': 'CALML3', 'score': 0.39}, {'connected_gene': 'CALML5', 'score': 0.39}]
chr10 GH10I005492 5492841 5494408 0.84 [{'connected_gene': 'CALML3', 'score': 29.89}, {'connected_gene': 'ENSG00000256462', 'score': 10.68}, {'connected_gene': 'CALML3-AS1', 'score': 10.68}, {'connected_gene': 'CALML5', 'score': 8.18}, {'connected_gene': 'NET1', 'score': 0.18}]
chr10 GH10I005515 5515770 5516867 0.7 [{'connected_gene': 'CALML3', 'score': 8.42}, {'connected_gene': 'CALML3-AS1', 'score': 0.44}, {'connected_gene': 'CALML5', 'score': 0.37}]
chr10 GH10I005517 5517092 5519068 1.02 [{'connected_gene': 'CALML3', 'score': 8.13}, {'connected_gene': 'CALML3-AS1', 'score': 0.44}, {'connected_gene': 'CALML5', 'score': 0.37}]
chr10 GH10I005442 5442528 5444161 0.78 [{'connected_gene': 'TUBAL3', 'score': 12.95}, {'connected_gene': 'ASB13', 'score': 10.68}, {'connected_gene': 'CALML5', 'score': 10.44}, {'connected_gene': 'ENSG00000256462', 'score': 10.34}, {'connected_gene': 'CALML3', 'score': 10.34}, {'connected_gene': 'CALML3-AS1', 'score': 10.34}, {'connected_gene': 'UCN3', 'score': 9.96}, {'connected_gene': 'NET1', 'score': 0.29}]
chr10 GH10I005441 5441647 5442427 0.9 [{'connected_gene': 'ASB13', 'score': 10.68}, {'connected_gene': 'CALML5', 'score': 10.44}, {'connected_gene': 'ENSG00000256462', 'score': 10.34}, {'connected_gene': 'CALML3', 'score': 10.34}, {'connected_gene': 'CALML3-AS1', 'score': 10.34}, {'connected_gene': 'UCN3', 'score': 9.96}, {'connected_gene': 'TUBAL3', 'score': 9.89}, {'connected_gene': 'NET1', 'score': 0.31}]
chr10 GH10I005642 5642697 5647402 1.05 [{'connected_gene': 'ASB13', 'score': 22.33}, {'connected_gene': 'GDI2', 'score': 21.65}, {'connected_gene': 'FBXO18', 'score': 15.14}, {'connected_gene': 'LOC105376384', 'score': 14.43}, {'connected_gene': 'LOC102723629', 'score': 12.3}, {'connected_gene': 'FAM208B', 'score': 12.28}, {'connected_gene': 'ENSG00000226647', 'score': 12.14}, {'connected_gene': 'CALML5', 'score': 10.32}, {'connected_gene': 'ENSG00000256462', 'score': 10.17}, {'connected_gene': 'CALML3-AS1', 'score': 10.17}, {'connected_gene': 'CALML3', 'score': 10.16}, {'connected_gene': 'LOC105376382', 'score': 4.91}]
chr10 GH10I005617 5617574 5620524 0.84 [{'connected_gene': 'ASB13', 'score': 16.87}, {'connected_gene': 'LOC102723629', 'score': 12.54}, {'connected_gene': 'CALML5', 'score': 11.33}, {'connected_gene': 'ENSG00000256462', 'score': 10.47}, {'connected_gene': 'CALML3-AS1', 'score': 10.47}, {'connected_gene': 'CALML3', 'score': 10.47}, {'connected_gene': 'NET1', 'score': 6.06}, {'connected_gene': 'ENSG00000228685', 'score': 0.44}, {'connected_gene': 'LOC105376383', 'score': 0.44}]
chr10 GH10I005444 5444422 5451444 2.48 [{'connected_gene': 'NET1', 'score': 550.28}, {'connected_gene': 'LOC105376384', 'score': 25.59}, {'connected_gene': 'NRBF2P5', 'score': 19.97}, {'connected_gene': 'TUBAL3', 'score': 16.73}, {'connected_gene': 'GDI2', 'score': 14.11}, {'connected_gene': 'FBXO18', 'score': 13.74}, {'connected_gene': 'FAM208B', 'score': 11.89}, {'connected_gene': 'CALML5', 'score': 11.42}, {'connected_gene': 'ENSG00000256462', 'score': 11.19}, {'connected_gene': 'CALML3', 'score': 11.19}, {'connected_gene': 'CALML3-AS1', 'score': 11.19}, {'connected_gene': 'ASB13', 'score': 10.68}, {'connected_gene': 'ENSG00000226647', 'score': 9.98}, {'connected_gene': 'UCN3', 'score': 9.95}]
chr10 GH10I005543 5543863 5555596 1.77 [{'connected_gene': 'FAM208B', 'score': 48.32}, {'connected_gene': 'FBXO18', 'score': 35.63}, {'connected_gene': 'LOC105376384', 'score': 29.78}, {'connected_gene': 'CALML3-AS1', 'score': 26.61}, {'connected_gene': 'ENSG00000226647', 'score': 20.9}, {'connected_gene': 'CALML3', 'score': 15.22}, {'connected_gene': 'NRBF2P5', 'score': 13.1}, {'connected_gene': 'ENSG00000256462', 'score': 12.26}, {'connected_gene': 'GDI2', 'score': 11.44}, {'connected_gene': 'CALML5', 'score': 11.21}, {'connected_gene': 'ANKRD16', 'score': 11.04}, {'connected_gene': 'NET1', 'score': 4.74}, {'connected_gene': 'LOC105376380', 'score': 0.77}]
chr10 GH10I005573 5573594 5577379 1.15 [{'connected_gene': 'FAM208B', 'score': 18.43}, {'connected_gene': 'NRBF2P5', 'score': 12.0}, {'connected_gene': 'ENSG00000256462', 'score': 11.95}, {'connected_gene': 'CALML3-AS1', 'score': 11.95}, {'connected_gene': 'CALML3', 'score': 11.94}, {'connected_gene': 'CALML5', 'score': 11.19}, {'connected_gene': 'FBXO18', 'score': 11.03}, {'connected_gene': 'RBM17', 'score': 10.97}, {'connected_gene': 'ENSG00000226647', 'score': 10.74}, {'connected_gene': 'ANKRD16', 'score': 10.63}, {'connected_gene': 'LOC105376384', 'score': 10.49}, {'connected_gene': 'GDI2', 'score': 9.51}, {'connected_gene': 'ASB13', 'score': 6.79}, {'connected_gene': 'LOC105376383', 'score': 5.26}, {'connected_gene': 'LOC105376381', 'score': 0.44}, {'connected_gene': 'LOC105376382', 'score': 0.34}]
chr10 GH10I005534 5534378 5536007 1.35 [{'connected_gene': 'CALML5', 'score': 11.17}, {'connected_gene': 'CALML3', 'score': 4.7}, {'connected_gene': 'NET1', 'score': 3.1}, {'connected_gene': 'CALML3-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376380', 'score': 0.37}]
chr10 GH10I005474 5474278 5475407 0.66 [{'connected_gene': 'CALML5', 'score': 11.66}, {'connected_gene': 'CALML3', 'score': 11.43}, {'connected_gene': 'ENSG00000256462', 'score': 11.42}, {'connected_gene': 'CALML3-AS1', 'score': 11.42}, {'connected_gene': 'TUBAL3', 'score': 11.3}, {'connected_gene': 'ASB13', 'score': 10.41}, {'connected_gene': 'NET1', 'score': 0.21}]
chr10 GH10I005472 5472418 5472567 1.12 [{'connected_gene': 'CALML5', 'score': 11.63}, {'connected_gene': 'ENSG00000256462', 'score': 11.42}, {'connected_gene': 'CALML3', 'score': 11.42}, {'connected_gene': 'CALML3-AS1', 'score': 11.42}, {'connected_gene': 'TUBAL3', 'score': 10.04}, {'connected_gene': 'NET1', 'score': 0.22}]
chr10 GH10I005451 5451818 5451911 0.2 [{'connected_gene': 'CALML5', 'score': 11.44}, {'connected_gene': 'ENSG00000256462', 'score': 11.2}, {'connected_gene': 'CALML3', 'score': 11.2}, {'connected_gene': 'CALML3-AS1', 'score': 11.2}, {'connected_gene': 'NET1', 'score': 0.28}]
chr10 GH10I005500 5500376 5501463 0.43 [{'connected_gene': 'CALML5', 'score': 558.5}, {'connected_gene': 'ENSG00000256462', 'score': 11.73}, {'connected_gene': 'CALML3', 'score': 11.73}, {'connected_gene': 'CALML3-AS1', 'score': 11.7}]
chr10 GH10I005499 5499560 5499619 0.96 [{'connected_gene': 'CALML5', 'score': 550.77}, {'connected_gene': 'CALML3', 'score': 0.34}]
chr10 GH10I005647 5647466 5648027 0.56 [{'connected_gene': 'CALML5', 'score': 10.32}, {'connected_gene': 'GDI2', 'score': 10.27}, {'connected_gene': 'ENSG00000256462', 'score': 10.16}, {'connected_gene': 'CALML3', 'score': 10.16}, {'connected_gene': 'CALML3-AS1', 'score': 10.16}, {'connected_gene': 'ASB13', 'score': 5.14}, {'connected_gene': 'LOC102723629', 'score': 0.37}]
chr10 GH10I005476 5476273 5481393 1.15 [{'connected_gene': 'CALML5', 'score': 18.98}, {'connected_gene': 'CALML3-AS1', 'score': 17.94}, {'connected_gene': 'ENSG00000256462', 'score': 11.46}, {'connected_gene': 'CALML3', 'score': 11.46}, {'connected_gene': 'ASB13', 'score': 10.41}, {'connected_gene': 'TUBAL3', 'score': 6.06}, {'connected_gene': 'NET1', 'score': 0.2}]
chr10 GH10I005611 5611958 5612207 0.72 [{'connected_gene': 'LOC105376383', 'score': 550.77}, {'connected_gene': 'ENSG00000256462', 'score': 11.03}, {'connected_gene': 'CALML3', 'score': 11.03}, {'connected_gene': 'CALML3-AS1', 'score': 11.03}, {'connected_gene': 'TUBAL3', 'score': 10.52}, {'connected_gene': 'CALML5', 'score': 10.2}, {'connected_gene': 'ASB13', 'score': 5.44}, {'connected_gene': 'ENSG00000228685', 'score': 0.39}]
chr10 GH10I005608 5608971 5611604 1.27 [{'connected_gene': 'LOC105376383', 'score': 550.77}, {'connected_gene': 'ENSG00000256462', 'score': 11.04}, {'connected_gene': 'CALML3-AS1', 'score': 11.04}, {'connected_gene': 'CALML3', 'score': 11.03}, {'connected_gene': 'LOC102723629', 'score': 11.02}, {'connected_gene': 'TUBAL3', 'score': 10.52}, {'connected_gene': 'CALML5', 'score': 10.2}, {'connected_gene': 'ASB13', 'score': 6.13}, {'connected_gene': 'LOC105376382', 'score': 6.03}]
chr10 GH10I005594 5594121 5598048 1.42 [{'connected_gene': 'LOC105376382', 'score': 557.43}, {'connected_gene': 'CALML3', 'score': 13.98}, {'connected_gene': 'CALML3-AS1', 'score': 11.38}, {'connected_gene': 'ENSG00000256462', 'score': 11.37}, {'connected_gene': 'CALML5', 'score': 11.13}, {'connected_gene': 'UCN3', 'score': 10.3}, {'connected_gene': 'GDI2', 'score': 10.01}, {'connected_gene': 'ASB13', 'score': 7.54}, {'connected_gene': 'LOC102723629', 'score': 5.62}, {'connected_gene': 'NET1', 'score': 3.31}, {'connected_gene': 'LOC105376381', 'score': 0.31}]
chr10 GH10I005563 5563345 5568190 1.41 [{'connected_gene': 'LOC105376381', 'score': 550.77}, {'connected_gene': 'CALML3', 'score': 18.14}, {'connected_gene': 'CALML3-AS1', 'score': 11.76}, {'connected_gene': 'ENSG00000256462', 'score': 11.74}, {'connected_gene': 'CALML5', 'score': 10.99}, {'connected_gene': 'LOC105376382', 'score': 5.44}, {'connected_gene': 'LOC105376380', 'score': 0.39}]
chr10 GH10I005616 5616587 5617563 0.4 [{'connected_gene': 'LOC102723629', 'score': 12.36}, {'connected_gene': 'CALML5', 'score': 11.33}, {'connected_gene': 'ENSG00000256462', 'score': 10.69}, {'connected_gene': 'CALML3', 'score': 10.69}, {'connected_gene': 'CALML3-AS1', 'score': 10.69}, {'connected_gene': 'ASB13', 'score': 9.14}, {'connected_gene': 'ENSG00000228685', 'score': 0.44}, {'connected_gene': 'LOC105376383', 'score': 0.44}]
chr10 GH10I005613 5613479 5616207 1.11 [{'connected_gene': 'LOC102723629', 'score': 12.62}, {'connected_gene': 'ENSG00000256462', 'score': 11.44}, {'connected_gene': 'CALML3-AS1', 'score': 11.44}, {'connected_gene': 'CALML3', 'score': 11.43}, {'connected_gene': 'CALML5', 'score': 11.01}, {'connected_gene': 'TUBAL3', 'score': 10.51}, {'connected_gene': 'ASB13', 'score': 10.37}, {'connected_gene': 'NET1', 'score': 6.29}, {'connected_gene': 'LOC105376383', 'score': 0.77}, {'connected_gene': 'ENSG00000228685', 'score': 0.39}]
chr10 GH10I005486 5486036 5490531 1.12 [{'connected_gene': 'CALML3-AS1', 'score': 17.42}, {'connected_gene': 'ENSG00000256462', 'score': 11.46}, {'connected_gene': 'CALML3', 'score': 11.46}, {'connected_gene': 'CALML5', 'score': 9.45}, {'connected_gene': 'TUBAL3', 'score': 9.28}, {'connected_gene': 'UCN3', 'score': 9.14}, {'connected_gene': 'NET1', 'score': 0.18}]
chr10 GH10I005525 5525723 5526707 0.51 [{'connected_gene': 'CALML3-AS1', 'score': 558.52}, {'connected_gene': 'ENSG00000256462', 'score': 550.77}, {'connected_gene': 'CALML3', 'score': 9.7}]
chr10 GH10I005464 5464248 5469492 1.3 [{'connected_gene': 'CALML3-AS1', 'score': 16.35}, {'connected_gene': 'TUBAL3', 'score': 12.16}, {'connected_gene': 'CALML5', 'score': 11.62}, {'connected_gene': 'ENSG00000256462', 'score': 11.41}, {'connected_gene': 'CALML3', 'score': 11.41}, {'connected_gene': 'NET1', 'score': 0.23}]
chr10 GH10I005473 5472926 5473709 0.63 [{'connected_gene': 'CALML3-AS1', 'score': 16.17}, {'connected_gene': 'CALML5', 'score': 11.63}, {'connected_gene': 'ENSG00000256462', 'score': 11.42}, {'connected_gene': 'CALML3', 'score': 11.42}, {'connected_gene': 'NET1', 'score': 0.21}]
chr10 GH10I005598 5598405 5599437 0.67 [{'connected_gene': 'ENSG00000256462', 'score': 11.14}, {'connected_gene': 'CALML3', 'score': 11.14}, {'connected_gene': 'CALML3-AS1', 'score': 11.14}, {'connected_gene': 'CALML5', 'score': 11.13}, {'connected_gene': 'GDI2', 'score': 10.01}, {'connected_gene': 'ASB13', 'score': 6.74}, {'connected_gene': 'LOC102723629', 'score': 6.11}, {'connected_gene': 'LOC105376382', 'score': 0.77}, {'connected_gene': 'LOC105376383', 'score': 0.39}]
chr10 GH10I005572 5572358 5573274 0.38 [{'connected_gene': 'ENSG00000256462', 'score': 11.95}, {'connected_gene': 'CALML3', 'score': 11.95}, {'connected_gene': 'CALML3-AS1', 'score': 11.95}, {'connected_gene': 'CALML5', 'score': 11.2}, {'connected_gene': 'GDI2', 'score': 9.51}, {'connected_gene': 'LOC105376381', 'score': 0.44}, {'connected_gene': 'LOC105376382', 'score': 0.34}]
chr10 GH10I005571 5571246 5572298 1.03 [{'connected_gene': 'ENSG00000256462', 'score': 11.95}, {'connected_gene': 'CALML3', 'score': 11.95}, {'connected_gene': 'CALML3-AS1', 'score': 11.95}, {'connected_gene': 'CALML5', 'score': 11.2}, {'connected_gene': 'GDI2', 'score': 9.51}, {'connected_gene': 'LOC105376381', 'score': 0.44}, {'connected_gene': 'LOC105376382', 'score': 0.34}]
chr10 GH10I005599 5599447 5603285 0.62 [{'connected_gene': 'ENSG00000256462', 'score': 11.13}, {'connected_gene': 'CALML3', 'score': 11.13}, {'connected_gene': 'CALML3-AS1', 'score': 11.13}, {'connected_gene': 'CALML5', 'score': 11.12}, {'connected_gene': 'LOC102723629', 'score': 10.25}, {'connected_gene': 'GDI2', 'score': 10.01}, {'connected_gene': 'ASB13', 'score': 7.07}, {'connected_gene': 'LOC105376382', 'score': 6.69}, {'connected_gene': 'LOC105376383', 'score': 0.44}]
chr10 GH10I005490 5490646 5491495 0.51 [{'connected_gene': 'ENSG00000256462', 'score': 11.18}, {'connected_gene': 'CALML3', 'score': 11.18}, {'connected_gene': 'CALML3-AS1', 'score': 11.16}, {'connected_gene': 'UCN3', 'score': 9.1}, {'connected_gene': 'CALML5', 'score': 0.44}, {'connected_gene': 'NET1', 'score': 0.18}]
chr10 GH10I005581 5581738 5581887 0.72 [{'connected_gene': 'ENSG00000256462', 'score': 11.28}, {'connected_gene': 'CALML3', 'score': 11.28}, {'connected_gene': 'CALML3-AS1', 'score': 11.28}, {'connected_gene': 'LOC105376382', 'score': 0.39}, {'connected_gene': 'LOC105376381', 'score': 0.37}]
chr10 GH10I005524 5524912 5524971 0.7 [{'connected_gene': 'ENSG00000256462', 'score': 550.77}, {'connected_gene': 'CALML3', 'score': 550.77}, {'connected_gene': 'CALML3-AS1', 'score': 550.77}]
chr10 GH10I005622 5622562 5623887 1.35 [{'connected_gene': 'ENSG00000228685', 'score': 550.77}, {'connected_gene': 'ASB13', 'score': 18.75}, {'connected_gene': 'ENSG00000256462', 'score': 10.47}, {'connected_gene': 'CALML3', 'score': 10.47}, {'connected_gene': 'CALML3-AS1', 'score': 10.47}, {'connected_gene': 'CALML5', 'score': 10.23}, {'connected_gene': 'LOC102723629', 'score': 7.62}, {'connected_gene': 'LOC105376382', 'score': 5.39}, {'connected_gene': 'LOC105376383', 'score': 0.39}]
chr10 GH10I005625 5625538 5627227 0.85 [{'connected_gene': 'ENSG00000228685', 'score': 550.77}, {'connected_gene': 'ASB13', 'score': 17.02}, {'connected_gene': 'ENSG00000256462', 'score': 10.46}, {'connected_gene': 'CALML3', 'score': 10.46}, {'connected_gene': 'CALML3-AS1', 'score': 10.46}, {'connected_gene': 'LOC102723629', 'score': 10.29}, {'connected_gene': 'CALML5', 'score': 10.23}, {'connected_gene': 'RN7SL445P', 'score': 0.44}]
chr10 GH10I005604 5604725 5605816 0.38 [{'connected_gene': 'ENSG00000256462', 'score': 11.05}, {'connected_gene': 'CALML3-AS1', 'score': 11.05}, {'connected_gene': 'CALML3', 'score': 11.04}, {'connected_gene': 'TUBAL3', 'score': 10.52}, {'connected_gene': 'CALML5', 'score': 10.21}, {'connected_gene': 'LOC102723629', 'score': 7.62}, {'connected_gene': 'NET1', 'score': 5.88}, {'connected_gene': 'LOC105376383', 'score': 0.44}, {'connected_gene': 'LOC105376382', 'score': 0.44}]
chr10 GH10I005579 5579207 5580263 0.54 [{'connected_gene': 'ENSG00000256462', 'score': 11.94}, {'connected_gene': 'CALML3-AS1', 'score': 11.94}, {'connected_gene': 'CALML3', 'score': 11.93}, {'connected_gene': 'CALML5', 'score': 11.18}, {'connected_gene': 'GDI2', 'score': 9.51}, {'connected_gene': 'ASB13', 'score': 6.27}, {'connected_gene': 'LOC105376381', 'score': 0.39}, {'connected_gene': 'LOC105376382', 'score': 0.37}]
chr10 GH10I005559 5559001 5561108 1.19 [{'connected_gene': 'ENSG00000256462', 'score': 11.86}, {'connected_gene': 'CALML3-AS1', 'score': 11.86}, {'connected_gene': 'CALML3', 'score': 11.84}, {'connected_gene': 'CALML5', 'score': 10.94}, {'connected_gene': 'RN7SKP78', 'score': 5.39}, {'connected_gene': 'LOC105376381', 'score': 0.44}, {'connected_gene': 'LOC105376380', 'score': 0.44}]