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
ENST00000305108 [[673461, 673847], [674382, 674567], [675115, 675344], [772493, 772945]] [[674400, 674567], [675115, 675344], [772493, 772664]]
ENST00000397265 [[673541, 673847], [674382, 674567], [675115, 675344], [719511, 719584]] [[674400, 674567], [675115, 675344], [719511, 719523]]
ENST00000542920 [[673746, 673847], [674382, 674567], [675115, 675344], [752676, 752831]] [[674400, 674567], [675115, 675269]]
ENST00000433832 [[674525, 675344], [752676, 752802]] [[674996, 675269]]
ENST00000537416 [[674998, 675146], [752676, 752851]] None
NM_001294345 [[673461, 673847], [674382, 674567], [675115, 675344], [719511, 719579]] [[674400, 674567], [675115, 675344], [719511, 719523]]
NM_001294346 [[673461, 673847], [674382, 674567], [675115, 675344], [752676, 752851]] [[674400, 674567], [675115, 675269]]
NM_016533 [[673461, 673847], [674382, 674567], [675115, 675344], [772493, 772907]] [[674400, 674567], [675115, 675344], [772493, 772664]]
Promoter
Chrom Start End Description
chr12 719539 719558 CAGE_peak_3_at_NINJ2_5end
chr12 719573 719594 CAGE_peak_5_at_NINJ2_5end
chr12 752786 752823 CAGE_peak_1_at_NINJ2_5end
chr12 772568 772583 CAGE_peak_2_at_NINJ2_5end
chr12 772629 772650 CAGE_peak_6_at_NINJ2_5end
chr12 772661 772710 CAGE_peak_4_at_NINJ2_5end
chr12 772770 772781 CAGE_peak_11_at_NINJ2_5end
chr12 772782 772795 CAGE_peak_10_at_NINJ2_5end
chr12 772871 772883 CAGE_peak_8_at_NINJ2_5end
chr12 772901 772919 CAGE_peak_7_at_NINJ2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I001529 1529049 1534821 1.85 [{'connected_gene': 'WNT5B', 'score': 7.36}, {'connected_gene': 'NINJ2', 'score': 4.2}, {'connected_gene': 'GC12P001546', 'score': 0.39}]
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 GH12I000669 668175 668324 0.89 [{'connected_gene': 'WNK1', 'score': 11.92}, {'connected_gene': 'RAD52', 'score': 9.62}, {'connected_gene': 'ENSG00000250132', 'score': 9.62}, {'connected_gene': 'ERC1', 'score': 9.62}, {'connected_gene': 'NINJ2', 'score': 2.53}, {'connected_gene': 'PIR42004', 'score': 0.44}, {'connected_gene': 'GC12M000678', 'score': 0.44}]
chr12 GH12I000801 801405 804523 0.71 [{'connected_gene': 'WNK1', 'score': 13.33}, {'connected_gene': 'RAD52', 'score': 13.27}, {'connected_gene': 'RNU4ATAC16P', 'score': 12.86}, {'connected_gene': 'NINJ2', 'score': 11.8}, {'connected_gene': 'GC12P000887', 'score': 0.18}]
chr12 GH12I000717 717836 720322 1.03 [{'connected_gene': 'WNK1', 'score': 12.99}, {'connected_gene': 'ENSG00000261799', 'score': 12.52}, {'connected_gene': 'NINJ2', 'score': 12.37}, {'connected_gene': 'RAD52', 'score': 11.59}, {'connected_gene': 'RNU4ATAC16P', 'score': 11.47}, {'connected_gene': 'LOC100049716', 'score': 7.81}, {'connected_gene': 'LINC02455', 'score': 0.77}]
chr12 GH12I000722 722348 723367 1.07 [{'connected_gene': 'WNK1', 'score': 13.0}, {'connected_gene': 'NINJ2', 'score': 12.7}, {'connected_gene': 'RNU4ATAC16P', 'score': 11.48}, {'connected_gene': 'LINC02455', 'score': 0.44}]
chr12 GH12I000810 810801 811000 1.07 [{'connected_gene': 'WNK1', 'score': 12.16}, {'connected_gene': 'RNU4ATAC16P', 'score': 12.15}, {'connected_gene': 'NINJ2', 'score': 11.97}, {'connected_gene': 'RAD52', 'score': 9.47}, {'connected_gene': 'ERC1', 'score': 9.47}, {'connected_gene': 'ENSG00000250132', 'score': 9.46}, {'connected_gene': 'GC12P000887', 'score': 0.18}]
chr12 GH12I000638 638008 638447 0.51 [{'connected_gene': 'WNK1', 'score': 12.6}, {'connected_gene': 'LOC100049716', 'score': 0.44}, {'connected_gene': 'GC12P000646', 'score': 0.44}, {'connected_gene': 'PIR35680', 'score': 0.44}, {'connected_gene': 'NINJ2', 'score': 0.31}]
chr12 GH12I000637 637795 637944 0.51 [{'connected_gene': 'WNK1', 'score': 12.6}, {'connected_gene': 'LOC100049716', 'score': 0.44}, {'connected_gene': 'GC12P000646', 'score': 0.44}, {'connected_gene': 'PIR35680', 'score': 0.44}, {'connected_gene': 'NINJ2', 'score': 0.31}]
chr12 GH12I000788 788811 790200 1.09 [{'connected_gene': 'RAD52', 'score': 13.29}, {'connected_gene': 'WNK1', 'score': 12.32}, {'connected_gene': 'NINJ2', 'score': 11.55}, {'connected_gene': 'RNU4ATAC16P', 'score': 0.44}, {'connected_gene': 'GC12P000887', 'score': 0.15}]
chr12 GH12I000913 913450 915784 0.86 [{'connected_gene': 'RAD52', 'score': 9.72}, {'connected_gene': 'NINJ2', 'score': 4.82}, {'connected_gene': 'GC12P000912', 'score': 0.77}, {'connected_gene': 'PIR51139', 'score': 0.29}]
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 GH12I000701 701994 702209 0.72 [{'connected_gene': 'NINJ2', 'score': 6.37}, {'connected_gene': 'SLC6A12', 'score': 3.52}, {'connected_gene': 'WNK1', 'score': 1.64}, {'connected_gene': 'RAD52', 'score': 1.28}, {'connected_gene': 'LOC101929432', 'score': 0.39}, {'connected_gene': 'LINC02455', 'score': 0.39}]
chr12 GH12I000920 920760 921147 0.22 [{'connected_gene': 'NINJ2', 'score': 4.49}, {'connected_gene': 'WNK1', 'score': 2.49}, {'connected_gene': 'GC12P000912', 'score': 0.44}, {'connected_gene': 'PIR51139', 'score': 0.34}, {'connected_gene': 'RAD52', 'score': 0.2}]
chr12 GH12I000738 738418 738860 0.46 [{'connected_gene': 'NINJ2', 'score': 12.01}, {'connected_gene': 'WNK1', 'score': 0.39}, {'connected_gene': 'LINC02455', 'score': 0.34}]
chr12 GH12I000737 737083 737881 0.51 [{'connected_gene': 'NINJ2', 'score': 12.01}, {'connected_gene': 'WNK1', 'score': 0.37}, {'connected_gene': 'LINC02455', 'score': 0.34}]
chr12 GH12I000725 725121 725187 0.72 [{'connected_gene': 'NINJ2', 'score': 12.68}, {'connected_gene': 'WNK1', 'score': 12.66}, {'connected_gene': 'LINC02455', 'score': 0.44}]
chr12 GH12I000723 723891 724888 1.34 [{'connected_gene': 'NINJ2', 'score': 12.68}, {'connected_gene': 'WNK1', 'score': 12.66}, {'connected_gene': 'LOC100049716', 'score': 5.24}, {'connected_gene': 'LINC02455', 'score': 0.44}]
chr12 GH12I000726 725689 729981 1 [{'connected_gene': 'NINJ2', 'score': 12.68}, {'connected_gene': 'WNK1', 'score': 12.68}, {'connected_gene': 'LOC100049716', 'score': 5.38}, {'connected_gene': 'LINC02455', 'score': 0.39}]
chr12 GH12I000614 614001 615000 1.28 [{'connected_gene': 'NINJ2', 'score': 8.29}, {'connected_gene': 'GC12M000616', 'score': 0.44}, {'connected_gene': 'LOC105369595', 'score': 0.34}]
chr12 GH12I000641 641757 647624 2.23 [{'connected_gene': 'NINJ2', 'score': 554.89}, {'connected_gene': 'GC12P000646', 'score': 550.77}, {'connected_gene': 'PIR35680', 'score': 550.77}, {'connected_gene': 'LOC100049716', 'score': 35.88}, {'connected_gene': 'RAD52', 'score': 13.24}, {'connected_gene': 'WNK1', 'score': 12.16}, {'connected_gene': 'LOC105369595', 'score': 5.48}]
chr12 GH12I000607 607375 611731 1.75 [{'connected_gene': 'NINJ2', 'score': 557.98}, {'connected_gene': 'LOC100049716', 'score': 31.07}, {'connected_gene': 'ENSG00000261799', 'score': 13.8}, {'connected_gene': 'RAD52', 'score': 12.83}, {'connected_gene': 'ERC1', 'score': 10.4}, {'connected_gene': 'LOC105369595', 'score': 7.34}, {'connected_gene': 'GC12M000616', 'score': 0.39}]
chr12 GH12I000599 599390 600451 0.31 [{'connected_gene': 'NINJ2', 'score': 11.86}, {'connected_gene': 'LOC100049716', 'score': 10.79}, {'connected_gene': 'LOC105369595', 'score': 10.57}, {'connected_gene': 'GC12M000616', 'score': 0.34}]
chr12 GH12I000661 661947 664164 1.5 [{'connected_gene': 'NINJ2', 'score': 555.74}, {'connected_gene': 'LOC100049716', 'score': 23.25}, {'connected_gene': 'GC12P000646', 'score': 0.37}, {'connected_gene': 'PIR35680', 'score': 0.37}]
chr12 GH12I000488 488145 488512 0.76 [{'connected_gene': 'B4GALNT3', 'score': 11.81}, {'connected_gene': 'NINJ2', 'score': 1.99}, {'connected_gene': 'GC12P000495', 'score': 0.44}, {'connected_gene': 'PIR35231', 'score': 0.34}]
chr12 GH12I000779 778826 781311 1.16 [{'connected_gene': 'RNU4ATAC16P', 'score': 550.77}, {'connected_gene': 'RAD52', 'score': 10.41}, {'connected_gene': 'NINJ2', 'score': 5.74}, {'connected_gene': 'GC12M000775', 'score': 0.77}, {'connected_gene': 'WNK1', 'score': 0.31}]
chr12 GH12I000716 716221 717374 1.24 [{'connected_gene': 'LINC02455', 'score': 550.77}, {'connected_gene': 'WNK1', 'score': 12.97}, {'connected_gene': 'NINJ2', 'score': 12.38}, {'connected_gene': 'RNU4ATAC16P', 'score': 11.47}, {'connected_gene': 'B4GALNT3', 'score': 2.4}]
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 GH12I000578 578610 579717 0.83 [{'connected_gene': 'LOC105369595', 'score': 18.72}, {'connected_gene': 'WNK1', 'score': 12.07}, {'connected_gene': 'NINJ2', 'score': 11.93}, {'connected_gene': 'RAD52', 'score': 9.65}, {'connected_gene': 'ENSG00000250132', 'score': 9.65}, {'connected_gene': 'ERC1', 'score': 9.65}, {'connected_gene': 'PIR38262', 'score': 0.44}, {'connected_gene': 'GC12M000554', 'score': 0.44}]
chr12 GH12I000597 597575 599026 0.4 [{'connected_gene': 'LOC105369595', 'score': 28.41}, {'connected_gene': 'NINJ2', 'score': 12.52}, {'connected_gene': 'LOC100049716', 'score': 10.16}, {'connected_gene': 'GC12M000616', 'score': 0.34}]
chr12 GH12I000583 583094 584427 1.1 [{'connected_gene': 'LOC105369595', 'score': 20.24}, {'connected_gene': 'PIR38262', 'score': 0.77}, {'connected_gene': 'GC12M000554', 'score': 0.39}, {'connected_gene': 'NINJ2', 'score': 0.18}]
chr12 GH12I000593 593801 594200 0.31 [{'connected_gene': 'LOC105369595', 'score': 5.6}, {'connected_gene': 'GC12M000616', 'score': 0.31}, {'connected_gene': 'NINJ2', 'score': 0.2}]
chr12 GH12I000594 593307 593607 0.31 [{'connected_gene': 'LOC105369595', 'score': 0.77}, {'connected_gene': 'GC12M000616', 'score': 0.31}, {'connected_gene': 'NINJ2', 'score': 0.19}]
chr12 GH12I000588 588852 590800 0.49 [{'connected_gene': 'LOC105369595', 'score': 570.76}, {'connected_gene': 'ENSG00000255825', 'score': 550.77}, {'connected_gene': 'PIR50035', 'score': 550.77}, {'connected_gene': 'GC12P000592', 'score': 550.77}, {'connected_gene': 'RNU7-103P', 'score': 550.77}, {'connected_gene': 'LOC100049716', 'score': 8.77}, {'connected_gene': 'NINJ2', 'score': 0.19}]
chr12 GH12I000666 666287 667914 1.49 [{'connected_gene': 'LOC100049716', 'score': 15.56}, {'connected_gene': 'WNK1', 'score': 11.94}, {'connected_gene': 'RAD52', 'score': 9.62}, {'connected_gene': 'ENSG00000250132', 'score': 9.62}, {'connected_gene': 'ERC1', 'score': 9.62}, {'connected_gene': 'NINJ2', 'score': 0.77}, {'connected_gene': 'PIR42004', 'score': 0.44}, {'connected_gene': 'GC12M000678', 'score': 0.44}]
chr12 GH12I000574 574260 577060 1.46 [{'connected_gene': 'LOC100049716', 'score': 21.85}, {'connected_gene': 'WNK1', 'score': 12.07}, {'connected_gene': 'NINJ2', 'score': 11.92}, {'connected_gene': 'LOC105369595', 'score': 9.91}, {'connected_gene': 'RAD52', 'score': 9.65}, {'connected_gene': 'ERC1', 'score': 9.65}, {'connected_gene': 'ENSG00000250132', 'score': 9.64}, {'connected_gene': 'GC12M000554', 'score': 0.44}, {'connected_gene': 'PIR38262', 'score': 0.39}]
chr12 GH12I000639 638555 641239 0.69 [{'connected_gene': 'LOC100049716', 'score': 21.15}, {'connected_gene': 'WNK1', 'score': 12.6}, {'connected_gene': 'GC12P000646', 'score': 0.44}, {'connected_gene': 'PIR35680', 'score': 0.44}, {'connected_gene': 'NINJ2', 'score': 0.34}]
chr12 GH12I000604 604567 606160 0.38 [{'connected_gene': 'LOC100049716', 'score': 22.47}, {'connected_gene': 'WNK1', 'score': 12.6}, {'connected_gene': 'LOC105369595', 'score': 12.52}, {'connected_gene': 'NINJ2', 'score': 6.58}, {'connected_gene': 'GC12M000616', 'score': 0.37}]
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 GH12I000636 636555 637147 0.79 [{'connected_gene': 'LOC100049716', 'score': 20.33}, {'connected_gene': 'NINJ2', 'score': 12.65}, {'connected_gene': 'WNK1', 'score': 12.59}, {'connected_gene': 'KDM5A', 'score': 11.31}, {'connected_gene': 'RAD52', 'score': 10.33}, {'connected_gene': 'GC12P000646', 'score': 0.44}, {'connected_gene': 'PIR35680', 'score': 0.44}]
chr12 GH12I000560 560563 565316 1.07 [{'connected_gene': 'LOC100049716', 'score': 9.34}, {'connected_gene': 'NINJ2', 'score': 5.97}, {'connected_gene': 'LOC105369595', 'score': 4.67}, {'connected_gene': 'B4GALNT3', 'score': 4.52}, {'connected_gene': 'GC12M000554', 'score': 0.44}, {'connected_gene': 'PIR41391', 'score': 0.39}]
chr12 GH12I000629 629950 634324 1.64 [{'connected_gene': 'LOC100049716', 'score': 582.23}, {'connected_gene': 'NINJ2', 'score': 17.77}, {'connected_gene': 'LOC105369595', 'score': 4.82}, {'connected_gene': 'GC12P000646', 'score': 0.39}, {'connected_gene': 'PIR35680', 'score': 0.39}]
chr12 GH12I000660 660118 660317 0.42 [{'connected_gene': 'LOC100049716', 'score': 18.77}, {'connected_gene': 'NINJ2', 'score': 2.89}, {'connected_gene': 'GC12P000646', 'score': 0.39}, {'connected_gene': 'PIR35680', 'score': 0.39}]
chr12 GH12I000628 628990 629737 0.2 [{'connected_gene': 'LOC100049716', 'score': 550.77}, {'connected_gene': 'NINJ2', 'score': 6.64}, {'connected_gene': 'GC12M000616', 'score': 0.44}]
chr12 GH12I000627 627805 628875 0.95 [{'connected_gene': 'LOC100049716', 'score': 32.2}, {'connected_gene': 'GC12M000616', 'score': 0.44}, {'connected_gene': 'NINJ2', 'score': 0.28}]
chr12 GH12I000625 625137 626970 0.2 [{'connected_gene': 'LOC100049716', 'score': 32.19}, {'connected_gene': 'NINJ2', 'score': 11.54}, {'connected_gene': 'GC12M000616', 'score': 0.44}]
chr12 GH12I000668 668695 669787 0.98 [{'connected_gene': 'LOC100049716', 'score': 15.33}, {'connected_gene': 'PIR42004', 'score': 0.44}, {'connected_gene': 'GC12M000678', 'score': 0.44}, {'connected_gene': 'NINJ2', 'score': 0.44}]
chr12 GH12I000658 658280 659041 0.38 [{'connected_gene': 'ENSG00000261799', 'score': 13.61}, {'connected_gene': 'NINJ2', 'score': 0.44}, {'connected_gene': 'GC12P000646', 'score': 0.39}, {'connected_gene': 'PIR35680', 'score': 0.39}, {'connected_gene': 'LOC100049716', 'score': 0.31}]
chr12 GH12I000650 650459 651908 0.49 [{'connected_gene': 'GC12P000646', 'score': 0.44}, {'connected_gene': 'PIR35680', 'score': 0.44}, {'connected_gene': 'NINJ2', 'score': 0.39}, {'connected_gene': 'LOC100049716', 'score': 0.34}]
chr12 GH12I000585 585655 585804 1.13 [{'connected_gene': 'PIR38262', 'score': 550.77}, {'connected_gene': 'GC12P000588', 'score': 550.77}, {'connected_gene': 'PIR38511', 'score': 550.77}, {'connected_gene': 'LOC105369595', 'score': 21.74}, {'connected_gene': 'GC12M000554', 'score': 0.37}, {'connected_gene': 'NINJ2', 'score': 0.18}]
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}]
chr12 GH12I000618 618454 620561 0.2 [{'connected_gene': 'GC12M000616', 'score': 550.77}, {'connected_gene': 'LOC100049716', 'score': 31.06}, {'connected_gene': 'NINJ2', 'score': 12.36}, {'connected_gene': 'WNK1', 'score': 12.15}, {'connected_gene': 'LOC105369595', 'score': 10.31}]
chr12 GH12I000671 671920 676090 1.33 [{'connected_gene': 'PIR42004', 'score': 550.77}, {'connected_gene': 'GC12M000678', 'score': 550.77}, {'connected_gene': 'LOC100049716', 'score': 27.12}, {'connected_gene': 'NINJ2', 'score': 0.39}, {'connected_gene': 'LINC02455', 'score': 0.26}]
chr12 GH12I000569 569280 572904 1.7 [{'connected_gene': 'GC12M000554', 'score': 550.77}, {'connected_gene': 'LOC100049716', 'score': 22.69}, {'connected_gene': 'LOC105369595', 'score': 12.16}, {'connected_gene': 'WNK1', 'score': 12.06}, {'connected_gene': 'NINJ2', 'score': 11.91}, {'connected_gene': 'ENSG00000250132', 'score': 9.79}, {'connected_gene': 'RAD52', 'score': 9.79}, {'connected_gene': 'ERC1', 'score': 9.79}, {'connected_gene': 'PIR38262', 'score': 0.39}]

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