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
ENST00000473763 [[12685438, 12685595], [12693911, 12694303]] [[12693996, 12694303]]
ENST00000459790 [[12693308, 12693478], [12693911, 12694487]] None
ENST00000381137 [[12693385, 12693478], [12693911, 12694381], [12695514, 12695837], [12702270, 12702442], [12704532, 12704705], [12707996, 12708143], [12708976, 12710266]] [[12695794, 12695837], [12702270, 12702442], [12704532, 12704705], [12707996, 12708143], [12708976, 12709182]]
ENST00000388918 [[12693434, 12693478], [12693911, 12694381], [12695514, 12695837], [12698450, 12698655], [12702270, 12702438], [12704525, 12704705], [12707996, 12708143], [12708976, 12710290]] [[12693996, 12694381], [12695514, 12695837], [12698450, 12698655], [12702270, 12702438], [12704525, 12704705], [12707996, 12708143], [12708976, 12709182]]
ENST00000381136 [[12695719, 12695837], [12702270, 12702438], [12704525, 12704705], [12707996, 12708143], [12708976, 12709235]] [[12695794, 12695837], [12702270, 12702438], [12704525, 12704705], [12707996, 12708143], [12708976, 12709182]]
ENST00000381142 [[12698505, 12698655], [12702270, 12702438], [12704525, 12704705], [12708976, 12709267]] None
ENST00000470909 [[12701644, 12701815], [12702270, 12702442]] None
ENST00000473504 [[12707670, 12708143], [12708976, 12709294]] None
NM_000550 [[12693385, 12693478], [12693911, 12694381], [12695514, 12695837], [12698450, 12698655], [12702270, 12702438], [12704525, 12704705], [12707996, 12708143], [12708976, 12710266]] [[12693996, 12694381], [12695514, 12695837], [12698450, 12698655], [12702270, 12702438], [12704525, 12704705], [12707996, 12708143], [12708976, 12709182]]
Promoter
Chrom Start End Description
chr9 12685478 12685491 CAGE_peak_23_at_TYRP1_5end
chr9 12685502 12685507 CAGE_peak_43_at_TYRP1_5end
chr9 12685513 12685519 CAGE_peak_41_at_TYRP1_5end
chr9 12693225 12693228 CAGE_peak_17_at_TYRP1_5end
chr9 12693260 12693263 CAGE_peak_37_at_TYRP1_5end
chr9 12693272 12693281 CAGE_peak_25_at_TYRP1_5end
chr9 12693291 12693298 CAGE_peak_33_at_TYRP1_5end
chr9 12693305 12693317 CAGE_peak_10_at_TYRP1_5end
chr9 12693336 12693460 CAGE_peak_1_at_TYRP1_5end
chr9 12693544 12693551 CAGE_peak_26_at_TYRP1_5end
chr9 12693559 12693562 CAGE_peak_22_at_TYRP1_5end
chr9 12693574 12693586 CAGE_peak_4_at_TYRP1_5end
chr9 12693929 12693940 CAGE_peak_6_at_TYRP1_5end
chr9 12694022 12694033 CAGE_peak_15_at_TYRP1_5end
chr9 12694192 12694201 CAGE_peak_13_at_TYRP1_5end
chr9 12694221 12694237 CAGE_peak_2_at_TYRP1_5end
chr9 12695566 12695573 CAGE_peak_28_at_TYRP1_5end
chr9 12695585 12695593 CAGE_peak_24_at_TYRP1_5end
chr9 12695636 12695648 CAGE_peak_11_at_TYRP1_5end
chr9 12695659 12695660 CAGE_peak_31_at_TYRP1_5end
chr9 12695674 12695681 CAGE_peak_36_at_TYRP1_5end
chr9 12695702 12695719 CAGE_peak_3_at_TYRP1_5end
chr9 12695726 12695759 CAGE_peak_5_at_TYRP1_5end
chr9 12695764 12695782 CAGE_peak_7_at_TYRP1_5end
chr9 12695789 12695802 CAGE_peak_14_at_TYRP1_5end
chr9 12698311 12698315 CAGE_peak_39_at_TYRP1_5end
chr9 12698444 12698487 CAGE_peak_8_at_TYRP1_5end
chr9 12698499 12698524 CAGE_peak_9_at_TYRP1_5end
chr9 12698542 12698573 CAGE_peak_16_at_TYRP1_5end
chr9 12698593 12698608 CAGE_peak_20_at_TYRP1_5end
chr9 12701182 12701196 CAGE_peak_19_at_TYRP1_5end
chr9 12701203 12701216 CAGE_peak_18_at_TYRP1_5end
chr9 12701221 12701232 CAGE_peak_30_at_TYRP1_5end
chr9 12701254 12701275 CAGE_peak_12_at_TYRP1_5end
chr9 12701351 12701368 CAGE_peak_21_at_TYRP1_5end
chr9 12701369 12701379 CAGE_peak_29_at_TYRP1_5end
chr9 12701618 12701630 CAGE_peak_44_at_TYRP1_5end
chr9 12701691 12701717 CAGE_peak_34_at_TYRP1_5end
chr9 12708011 12708027 CAGE_peak_27_at_TYRP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I012707 12707978 12709331 0.6 [{'connected_gene': 'TYRP1', 'score': 8.33}, {'connected_gene': 'RN7SL849P', 'score': 0.22}, {'connected_gene': 'LURAP1L-AS1', 'score': 0.14}]
chr9 GH09I012698 12698421 12698570 0.31 [{'connected_gene': 'TYRP1', 'score': 0.39}, {'connected_gene': 'RN7SL849P', 'score': 0.2}]
chr9 GH09I012693 12693403 12693462 0.5 [{'connected_gene': 'TYRP1', 'score': 550.44}, {'connected_gene': 'RN7SL849P', 'score': 0.19}]
chr9 GH09I012697 12697506 12698285 0.64 [{'connected_gene': 'TYRP1', 'score': 0.39}, {'connected_gene': 'RN7SL849P', 'score': 0.2}]
chr9 GH09I012699 12699213 12699340 0.42 [{'connected_gene': 'TYRP1', 'score': 15.96}, {'connected_gene': 'RN7SL849P', 'score': 0.2}]
chr9 GH09I012694 12693886 12693945 0.5 [{'connected_gene': 'TYRP1', 'score': 550.44}, {'connected_gene': 'RN7SL849P', 'score': 0.19}]
chr9 GH09I012684 12684540 12685670 0.43 [{'connected_gene': 'TYRP1', 'score': 550.77}, {'connected_gene': 'GC09P012594', 'score': 0.16}]
chr9 GH09I012679 12679232 12679377 0.22 [{'connected_gene': 'TYRP1', 'score': 21.06}, {'connected_gene': 'GC09P012594', 'score': 0.17}]
chr9 GH09I012771 12771400 12773138 0.4 [{'connected_gene': 'LURAP1L', 'score': 6.03}, {'connected_gene': 'TYRP1', 'score': 5.73}, {'connected_gene': 'LURAP1L-AS1', 'score': 5.38}, {'connected_gene': 'RN7SL849P', 'score': 0.44}]
chr9 GH09I012748 12748082 12748231 0.38 [{'connected_gene': 'LURAP1L', 'score': 10.52}, {'connected_gene': 'RN7SL849P', 'score': 0.37}, {'connected_gene': 'TYRP1', 'score': 0.21}, {'connected_gene': 'LURAP1L-AS1', 'score': 0.2}]
chr9 GH09I012718 12718176 12719291 0.66 [{'connected_gene': 'LURAP1L', 'score': 10.62}, {'connected_gene': 'LURAP1L-AS1', 'score': 10.34}, {'connected_gene': 'TYRP1', 'score': 0.29}, {'connected_gene': 'RN7SL849P', 'score': 0.25}]
chr9 GH09I012759 12759934 12759991 0.38 [{'connected_gene': 'RN7SL849P', 'score': 0.44}, {'connected_gene': 'LURAP1L-AS1', 'score': 0.23}, {'connected_gene': 'TYRP1', 'score': 0.19}]
chr9 GH09I012740 12740402 12741160 0.46 [{'connected_gene': 'LURAP1L-AS1', 'score': 5.71}, {'connected_gene': 'RN7SL849P', 'score': 0.34}, {'connected_gene': 'TYRP1', 'score': 0.22}]