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
ENST00000298125 [[52158643, 52158960], [52234731, 52234799], [52249305, 52249379], [52277731, 52277786], [52293333, 52293484], [52301813, 52301926], [52313184, 52313311], [52325445, 52325551], [52329493, 52329595], [52330467, 52330598], [52332327, 52332436], [52333875, 52336171]] [[52158823, 52158960], [52234731, 52234799], [52249305, 52249379], [52277731, 52277786], [52293333, 52293484], [52301813, 52301926], [52313184, 52313311], [52325445, 52325551], [52329493, 52329595], [52330467, 52330598], [52332327, 52332436], [52333875, 52333905]]
ENST00000460145 [[52313283, 52313311], [52325445, 52325551], [52326998, 52327259]] None
NM_052950 [[52158483, 52158960], [52234731, 52234799], [52249305, 52249379], [52277731, 52277786], [52293333, 52293484], [52301813, 52301926], [52313184, 52313311], [52325445, 52325551], [52329493, 52329595], [52330467, 52330598], [52332327, 52332436], [52333875, 52336171]] [[52158823, 52158960], [52234731, 52234799], [52249305, 52249379], [52277731, 52277786], [52293333, 52293484], [52301813, 52301926], [52313184, 52313311], [52325445, 52325551], [52329493, 52329595], [52330467, 52330598], [52332327, 52332436], [52333875, 52333905]]
Promoter
Chrom Start End Description
chr13 52158572 52158606 CAGE_peak_1_at_WDFY2_5end
chr13 52158610 52158654 CAGE_peak_2_at_WDFY2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I051522 51522716 51526385 1.17 [{'connected_gene': 'UTP14C', 'score': 12.02}, {'connected_gene': 'WDFY2', 'score': 4.62}, {'connected_gene': 'SNRPGP11', 'score': 0.31}, {'connected_gene': 'MIR4703', 'score': 0.31}, {'connected_gene': 'INTS6-AS1', 'score': 0.19}]
chr13 GH13I051820 51820688 51828126 1.3 [{'connected_gene': 'DHRS12', 'score': 17.37}, {'connected_gene': 'ENSG00000231856', 'score': 12.69}, {'connected_gene': 'CCDC70', 'score': 10.99}, {'connected_gene': 'NEK5', 'score': 10.4}, {'connected_gene': 'WDFY2', 'score': 4.68}, {'connected_gene': 'TMEM272', 'score': 0.34}]
chr13 GH13I051600 51600201 51600800 0.51 [{'connected_gene': 'DHRS12', 'score': 10.75}, {'connected_gene': 'ENSG00000231856', 'score': 10.75}, {'connected_gene': 'RNASEH2B', 'score': 4.53}, {'connected_gene': 'ATP5PBP1', 'score': 0.77}, {'connected_gene': 'WDFY2', 'score': 0.37}, {'connected_gene': 'PIR45932', 'score': 0.1}]
chr13 GH13I051776 51776137 51777440 0.2 [{'connected_gene': 'DHRS12', 'score': 17.22}, {'connected_gene': 'ENSG00000231856', 'score': 11.97}, {'connected_gene': 'WDFY2', 'score': 5.72}, {'connected_gene': 'ATP7B', 'score': 5.34}, {'connected_gene': 'PIR35271', 'score': 0.77}]
chr13 GH13I051725 51725747 51732074 1.43 [{'connected_gene': 'DHRS12', 'score': 18.99}, {'connected_gene': 'WDFY2', 'score': 11.66}, {'connected_gene': 'ENSG00000231856', 'score': 10.18}, {'connected_gene': 'NEK5', 'score': 9.95}, {'connected_gene': 'CKAP2', 'score': 4.77}, {'connected_gene': 'PIR45932', 'score': 0.31}, {'connected_gene': 'ATP5PBP1', 'score': 0.12}]
chr13 GH13I051818 51818862 51819800 1.29 [{'connected_gene': 'DHRS12', 'score': 12.0}, {'connected_gene': 'WDFY2', 'score': 9.9}, {'connected_gene': 'INTS6', 'score': 7.0}, {'connected_gene': 'TMEM272', 'score': 0.31}]
chr13 GH13I051532 51532579 51535713 0.97 [{'connected_gene': 'DHRS12', 'score': 14.54}, {'connected_gene': 'ENSG00000231856', 'score': 9.88}, {'connected_gene': 'WDFY2', 'score': 4.87}, {'connected_gene': 'INTS6', 'score': 1.52}, {'connected_gene': 'MIR4703', 'score': 0.37}, {'connected_gene': 'SNRPGP11', 'score': 0.28}, {'connected_gene': 'INTS6-AS1', 'score': 0.18}]
chr13 GH13I051642 51642308 51647295 1.56 [{'connected_gene': 'DHRS12', 'score': 15.45}, {'connected_gene': 'ENSG00000231856', 'score': 10.27}, {'connected_gene': 'WDFY2', 'score': 6.85}, {'connected_gene': 'INTS6', 'score': 3.91}, {'connected_gene': 'ATP5PBP1', 'score': 0.25}, {'connected_gene': 'PIR45932', 'score': 0.14}]
chr13 GH13I051801 51801362 51805577 2.45 [{'connected_gene': 'DHRS12', 'score': 553.41}, {'connected_gene': 'ENSG00000231856', 'score': 550.77}, {'connected_gene': 'WDFY2', 'score': 8.9}, {'connected_gene': 'INTS6', 'score': 2.51}, {'connected_gene': 'PIR35271', 'score': 0.31}]
chr13 GH13I051587 51587589 51592399 1.38 [{'connected_gene': 'DHRS12', 'score': 15.43}, {'connected_gene': 'ENSG00000231856', 'score': 10.42}, {'connected_gene': 'WDFY2', 'score': 5.03}, {'connected_gene': 'RNY1P6', 'score': 0.77}, {'connected_gene': 'GC13M051587', 'score': 0.77}, {'connected_gene': 'RN7SL413P', 'score': 0.77}]
chr13 GH13I051663 51663687 51667851 0.65 [{'connected_gene': 'DHRS12', 'score': 4.73}, {'connected_gene': 'WDFY2', 'score': 4.58}, {'connected_gene': 'ATP5PBP1', 'score': 0.2}, {'connected_gene': 'PIR45932', 'score': 0.16}]
chr13 GH13I051601 51601395 51602596 0.83 [{'connected_gene': 'DHRS12', 'score': 10.75}, {'connected_gene': 'ENSG00000231856', 'score': 10.75}, {'connected_gene': 'ENSG00000244471', 'score': 6.01}, {'connected_gene': 'WDFY2', 'score': 4.82}, {'connected_gene': 'ATP5PBP1', 'score': 0.77}, {'connected_gene': 'PIR45932', 'score': 0.1}]
chr13 GH13I051687 51687537 51689751 0.74 [{'connected_gene': 'DHRS12', 'score': 15.64}, {'connected_gene': 'ENSG00000231856', 'score': 10.11}, {'connected_gene': 'WDFY2', 'score': 9.89}, {'connected_gene': 'PIR45932', 'score': 0.2}, {'connected_gene': 'ATP5PBP1', 'score': 0.16}]
chr13 GH13I051685 51685462 51686699 0.2 [{'connected_gene': 'DHRS12', 'score': 15.64}, {'connected_gene': 'ENSG00000231856', 'score': 10.11}, {'connected_gene': 'WDFY2', 'score': 4.49}, {'connected_gene': 'PIR45932', 'score': 0.19}, {'connected_gene': 'ATP5PBP1', 'score': 0.17}]
chr13 GH13I051781 51781365 51781514 0.72 [{'connected_gene': 'DHRS12', 'score': 12.0}, {'connected_gene': 'ENSG00000231856', 'score': 12.0}, {'connected_gene': 'WDFY2', 'score': 4.23}, {'connected_gene': 'PIR35271', 'score': 0.44}]
chr13 GH13I051713 51713403 51716296 1.08 [{'connected_gene': 'DHRS12', 'score': 7.34}, {'connected_gene': 'PIR45932', 'score': 0.26}, {'connected_gene': 'ATP5PBP1', 'score': 0.13}, {'connected_gene': 'WDFY2', 'score': 0.12}]
chr13 GH13I051621 51621496 51624515 0.57 [{'connected_gene': 'DHRS12', 'score': 6.03}, {'connected_gene': 'ATP5PBP1', 'score': 0.34}, {'connected_gene': 'WDFY2', 'score': 0.28}, {'connected_gene': 'PIR45932', 'score': 0.12}]
chr13 GH13I051721 51721386 51722101 0.72 [{'connected_gene': 'DHRS12', 'score': 10.04}, {'connected_gene': 'ENSG00000231856', 'score': 10.04}, {'connected_gene': 'PIR45932', 'score': 0.29}, {'connected_gene': 'ATP5PBP1', 'score': 0.13}, {'connected_gene': 'WDFY2', 'score': 0.12}]
chr13 GH13I051739 51739062 51741279 0.71 [{'connected_gene': 'DHRS12', 'score': 15.44}, {'connected_gene': 'ENSG00000231856', 'score': 9.98}, {'connected_gene': 'PIR45932', 'score': 0.37}, {'connected_gene': 'ATP5PBP1', 'score': 0.11}, {'connected_gene': 'WDFY2', 'score': 0.1}]
chr13 GH13I051625 51625601 51627034 0.86 [{'connected_gene': 'DHRS12', 'score': 6.04}, {'connected_gene': 'ATP5PBP1', 'score': 0.31}, {'connected_gene': 'WDFY2', 'score': 0.26}, {'connected_gene': 'PIR45932', 'score': 0.12}]
chr13 GH13I051717 51717935 51718034 0.58 [{'connected_gene': 'DHRS12', 'score': 9.79}, {'connected_gene': 'ENSG00000231856', 'score': 9.79}, {'connected_gene': 'PIR45932', 'score': 0.28}, {'connected_gene': 'ATP5PBP1', 'score': 0.13}, {'connected_gene': 'WDFY2', 'score': 0.12}]
chr13 GH13I051274 51274645 51277537 0.38 [{'connected_gene': 'FAM124A', 'score': 11.72}, {'connected_gene': 'DHRS12', 'score': 5.43}, {'connected_gene': 'WDFY2', 'score': 4.04}, {'connected_gene': 'GC13P051260', 'score': 0.37}, {'connected_gene': 'SERPINE3', 'score': 0.22}]
chr13 GH13I051604 51604553 51607887 0.38 [{'connected_gene': 'WDFY2', 'score': 10.42}, {'connected_gene': 'DHRS12', 'score': 4.69}, {'connected_gene': 'VPS36', 'score': 3.93}, {'connected_gene': 'ATP5PBP1', 'score': 0.44}, {'connected_gene': 'PIR45932', 'score': 0.1}]
chr13 GH13I051630 51630569 51633727 1 [{'connected_gene': 'WDFY2', 'score': 10.39}, {'connected_gene': 'DHRS12', 'score': 5.36}, {'connected_gene': 'ATP5PBP1', 'score': 0.29}, {'connected_gene': 'PIR45932', 'score': 0.13}]
chr13 GH13I051635 51635065 51639102 1.41 [{'connected_gene': 'WDFY2', 'score': 10.64}, {'connected_gene': 'DHRS12', 'score': 6.04}, {'connected_gene': 'ATP5PBP1', 'score': 0.28}, {'connected_gene': 'PIR45932', 'score': 0.13}]
chr13 GH13I051745 51745735 51745932 0.26 [{'connected_gene': 'WDFY2', 'score': 10.84}, {'connected_gene': 'DHRS12', 'score': 7.62}, {'connected_gene': 'PIR45932', 'score': 0.39}, {'connected_gene': 'ATP5PBP1', 'score': 0.11}]
chr13 GH13I051768 51768125 51771812 0.89 [{'connected_gene': 'WDFY2', 'score': 11.13}, {'connected_gene': 'DHRS12', 'score': 7.9}, {'connected_gene': 'PIR35271', 'score': 0.77}, {'connected_gene': 'GC13P051767', 'score': 0.77}, {'connected_gene': 'PIR61568', 'score': 0.77}]
chr13 GH13I051786 51785543 51787512 1.31 [{'connected_gene': 'WDFY2', 'score': 5.12}, {'connected_gene': 'PIR35271', 'score': 0.39}, {'connected_gene': 'DHRS12', 'score': 0.37}, {'connected_gene': 'ENSG00000231856', 'score': 0.37}]
chr13 GH13I051576 51576825 51576974 0.2 [{'connected_gene': 'WDFY2', 'score': 0.44}, {'connected_gene': 'RNU6-65P', 'score': 0.39}]
chr13 GH13I051583 51583134 51586688 2.27 [{'connected_gene': 'WDFY2', 'score': 555.2}, {'connected_gene': 'RNY1P6', 'score': 550.77}, {'connected_gene': 'GC13M051587', 'score': 550.77}]
chr13 GH13I051048 51048188 51048829 0.49 [{'connected_gene': 'WDFY2', 'score': 5.56}, {'connected_gene': 'RNA5SP29', 'score': 0.34}, {'connected_gene': 'GUCY1B2', 'score': 0.29}]
chr13 GH13I051549 51549185 51549600 1.06 [{'connected_gene': 'WDFY2', 'score': 4.44}, {'connected_gene': 'MIR4703', 'score': 0.77}, {'connected_gene': 'SNRPGP11', 'score': 0.23}, {'connected_gene': 'INTS6-AS1', 'score': 0.15}]
chr13 GH13I051628 51628063 51629301 0.63 [{'connected_gene': 'WDFY2', 'score': 10.67}, {'connected_gene': 'ATP5PBP1', 'score': 0.29}, {'connected_gene': 'PIR45932', 'score': 0.13}]
chr13 GH13I051614 51614201 51615254 1.1 [{'connected_gene': 'WDFY2', 'score': 10.61}, {'connected_gene': 'ATP5PBP1', 'score': 0.37}, {'connected_gene': 'PIR45932', 'score': 0.11}]
chr13 GH13I051624 51624601 51625200 0.63 [{'connected_gene': 'WDFY2', 'score': 4.87}, {'connected_gene': 'ATP5PBP1', 'score': 0.31}, {'connected_gene': 'PIR45932', 'score': 0.12}]
chr13 GH13I051747 51747985 51748134 0.94 [{'connected_gene': 'WDFY2', 'score': 10.84}, {'connected_gene': 'PIR45932', 'score': 0.44}, {'connected_gene': 'ATP5PBP1', 'score': 0.11}]
chr13 GH13I051734 51734552 51735578 0.31 [{'connected_gene': 'WDFY2', 'score': 10.85}, {'connected_gene': 'PIR45932', 'score': 0.34}, {'connected_gene': 'ATP5PBP1', 'score': 0.12}]
chr13 GH13I051733 51733601 51734202 0.86 [{'connected_gene': 'WDFY2', 'score': 9.0}, {'connected_gene': 'PIR45932', 'score': 0.34}, {'connected_gene': 'ATP5PBP1', 'score': 0.12}]
chr13 GH13I051680 51680584 51682312 0.77 [{'connected_gene': 'WDFY2', 'score': 4.51}, {'connected_gene': 'PIR45932', 'score': 0.19}, {'connected_gene': 'ATP5PBP1', 'score': 0.18}]
chr13 GH13I051595 51595201 51595600 0.4 [{'connected_gene': 'RN7SL413P', 'score': 550.77}, {'connected_gene': 'ATP5PBP1', 'score': 0.77}, {'connected_gene': 'WDFY2', 'score': 0.39}]
chr13 GH13I051556 51556086 51558887 0.86 [{'connected_gene': 'RNY1P6', 'score': 13.13}, {'connected_gene': 'WDFY2', 'score': 13.13}, {'connected_gene': 'DHRS12', 'score': 4.72}, {'connected_gene': 'MIR4703', 'score': 0.77}, {'connected_gene': 'RNU6-65P', 'score': 0.44}]
chr13 GH13I051552 51552124 51552360 0.68 [{'connected_gene': 'MIR4703', 'score': 550.77}, {'connected_gene': 'DHRS12', 'score': 13.77}, {'connected_gene': 'WDFY2', 'score': 6.3}, {'connected_gene': 'INTS6', 'score': 5.59}, {'connected_gene': 'SNRPGP11', 'score': 0.22}, {'connected_gene': 'INTS6-AS1', 'score': 0.15}]
chr13 GH13I051596 51596601 51596800 0.58 [{'connected_gene': 'ATP5PBP1', 'score': 550.77}, {'connected_gene': 'DHRS12', 'score': 10.75}, {'connected_gene': 'ENSG00000231856', 'score': 10.75}, {'connected_gene': 'RN7SL413P', 'score': 0.77}, {'connected_gene': 'WDFY2', 'score': 0.39}]
chr13 GH13I051668 51668205 51670308 0.98 [{'connected_gene': 'ATP5PBP1', 'score': 0.19}, {'connected_gene': 'WDFY2', 'score': 0.17}, {'connected_gene': 'PIR45932', 'score': 0.17}]
chr13 GH13I051640 51640085 51640674 0.2 [{'connected_gene': 'ATP5PBP1', 'score': 0.26}, {'connected_gene': 'WDFY2', 'score': 0.22}, {'connected_gene': 'PIR45932', 'score': 0.13}]
chr13 GH13I051662 51662188 51663586 0.43 [{'connected_gene': 'ATP5PBP1', 'score': 0.21}, {'connected_gene': 'WDFY2', 'score': 0.18}, {'connected_gene': 'PIR45932', 'score': 0.16}]
chr13 GH13I051613 51613201 51613400 0.4 [{'connected_gene': 'ATP5PBP1', 'score': 0.39}, {'connected_gene': 'WDFY2', 'score': 0.31}, {'connected_gene': 'PIR45932', 'score': 0.11}]
chr13 GH13I051659 51659070 51660441 0.31 [{'connected_gene': 'ATP5PBP1', 'score': 0.21}, {'connected_gene': 'WDFY2', 'score': 0.18}, {'connected_gene': 'PIR45932', 'score': 0.15}]
chr13 GH13I051612 51612945 51613094 0.4 [{'connected_gene': 'ATP5PBP1', 'score': 0.39}, {'connected_gene': 'WDFY2', 'score': 0.31}, {'connected_gene': 'PIR45932', 'score': 0.11}]
chr13 GH13I051657 51657149 51658874 0.2 [{'connected_gene': 'ATP5PBP1', 'score': 0.22}, {'connected_gene': 'WDFY2', 'score': 0.19}, {'connected_gene': 'PIR45932', 'score': 0.15}]
chr13 GH13I051660 51660468 51661473 0.2 [{'connected_gene': 'ATP5PBP1', 'score': 0.21}, {'connected_gene': 'WDFY2', 'score': 0.18}, {'connected_gene': 'PIR45932', 'score': 0.15}]
chr13 GH13I051618 51618645 51621326 1.26 [{'connected_gene': 'ATP5PBP1', 'score': 0.34}, {'connected_gene': 'WDFY2', 'score': 0.28}, {'connected_gene': 'PIR45932', 'score': 0.12}]
chr13 GH13I051673 51673881 51676348 0.86 [{'connected_gene': 'ATP5PBP1', 'score': 0.18}, {'connected_gene': 'PIR45932', 'score': 0.18}, {'connected_gene': 'WDFY2', 'score': 0.16}]
chr13 GH13I051760 51760267 51761087 0.51 [{'connected_gene': 'GC13M051763', 'score': 550.77}, {'connected_gene': 'PIR50735', 'score': 550.77}, {'connected_gene': 'PIR55782', 'score': 550.77}, {'connected_gene': 'PIR50438', 'score': 550.77}, {'connected_gene': 'DHRS12', 'score': 10.63}, {'connected_gene': 'ENSG00000231856', 'score': 10.63}, {'connected_gene': 'WDFY2', 'score': 8.98}, {'connected_gene': 'PIR45932', 'score': 0.77}]
chr13 GH13I051682 51682847 51685143 0.38 [{'connected_gene': 'ENSG00000231856', 'score': 10.11}, {'connected_gene': 'DHRS12', 'score': 10.11}, {'connected_gene': 'PIR45932', 'score': 0.19}, {'connected_gene': 'ATP5PBP1', 'score': 0.17}, {'connected_gene': 'WDFY2', 'score': 0.15}]
chr13 GH13I051755 51755928 51757893 0.2 [{'connected_gene': 'PIR45932', 'score': 550.77}, {'connected_gene': 'WDFY2', 'score': 10.84}, {'connected_gene': 'DHRS12', 'score': 6.36}, {'connected_gene': 'PIR55782', 'score': 0.77}]
chr13 GH13I051763 51763445 51765764 1.26 [{'connected_gene': 'GC13P051767', 'score': 550.77}, {'connected_gene': 'PIR61568', 'score': 550.77}, {'connected_gene': 'PIR41471', 'score': 550.77}, {'connected_gene': 'WDFY2', 'score': 10.84}, {'connected_gene': 'DHRS12', 'score': 7.7}]
chr13 GH13I051746 51746905 51747054 0.4 [{'connected_gene': 'PIR45932', 'score': 0.44}, {'connected_gene': 'ATP5PBP1', 'score': 0.11}, {'connected_gene': 'WDFY2', 'score': 0.1}]
chr13 GH13I051697 51697401 51697600 0.2 [{'connected_gene': 'PIR45932', 'score': 0.22}, {'connected_gene': 'ATP5PBP1', 'score': 0.15}, {'connected_gene': 'WDFY2', 'score': 0.14}]

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