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
ENST00000443314 [[211295972, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341463]] [[211299210, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341120]]
ENST00000441020 [[211295972, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341136], [211341432, 211341481]] [[211299210, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341120]]
ENST00000450366 [[211295972, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341136], [211341343, 211341491]] [[211299210, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341120]]
ENST00000233714 [[211298838, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341136], [211341370, 211341429]] [[211299210, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341120]]
ENST00000431941 [[211299210, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341136], [211341445, 211341499]] [[211299210, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341120]]
ENST00000412863 [[211299244, 211299287], [211300110, 211300183], [211300939, 211301116], [211305321, 211305469]] [[211299244, 211299287], [211300110, 211300183], [211300939, 211301116], [211305321, 211305469]]
ENST00000448951 [[211305422, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341136], [211342173, 211342376]] [[211305422, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341120]]
ENST00000453956 [[211319982, 211320038], [211332871, 211332965], [211336230, 211336369], [211336682, 211336800], [211341039, 211341136], [211341343, 211341429]] [[211336319, 211336369], [211336682, 211336800], [211341039, 211341120]]
NM_001136574 [[211295972, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341136], [211341370, 211341429]] [[211299210, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341120]]
NM_006055 [[211295972, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341136], [211341343, 211341491]] [[211299210, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341120]]
NM_001136575 [[211295972, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341136], [211341445, 211341499]] [[211299210, 211299287], [211300110, 211300183], [211300939, 211301116], [211302413, 211302596], [211305321, 211305468], [211306031, 211306167], [211319830, 211320038], [211336682, 211336800], [211341039, 211341120]]
Promoter
Chrom Start End Description
chr2 211341395 211341408 CAGE_peak_3_at_LANCL1_5end
chr2 211341411 211341499 CAGE_peak_1_at_LANCL1_5end
chr2 211342264 211342275 CAGE_peak_4_at_LANCL1_5end
chr2 211342292 211342329 CAGE_peak_2_at_LANCL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I210461 210461477 210461626 0.74 [{'connected_gene': 'CPS1', 'score': 15.58}, {'connected_gene': 'LANCL1', 'score': 0.37}, {'connected_gene': 'GC02M210241', 'score': 0.13}, {'connected_gene': 'LANCL1-AS1', 'score': 0.12}]
chr2 GH02I210465 210465360 210466989 0.2 [{'connected_gene': 'CPS1', 'score': 25.07}, {'connected_gene': 'LANCL1', 'score': 0.39}, {'connected_gene': 'GC02M210241', 'score': 0.13}, {'connected_gene': 'LANCL1-AS1', 'score': 0.11}]
chr2 GH02I210452 210452951 210459068 0.43 [{'connected_gene': 'CPS1', 'score': 35.74}, {'connected_gene': 'LANCL1', 'score': 11.76}, {'connected_gene': 'ENSG00000272807', 'score': 11.46}, {'connected_gene': 'LANCL1-AS1', 'score': 6.23}, {'connected_gene': 'GC02M210241', 'score': 0.14}]
chr2 GH02I210468 210468138 210469699 0.31 [{'connected_gene': 'CPS1', 'score': 23.8}, {'connected_gene': 'LANCL1', 'score': 0.44}, {'connected_gene': 'GC02M210241', 'score': 0.13}, {'connected_gene': 'LANCL1-AS1', 'score': 0.11}]
chr2 GH02I210439 210439465 210441409 0.31 [{'connected_gene': 'CPS1', 'score': 22.63}, {'connected_gene': 'LANCL1', 'score': 11.64}, {'connected_gene': 'GC02M210241', 'score': 0.15}, {'connected_gene': 'LANCL1-AS1', 'score': 0.13}]
chr2 GH02I210442 210442018 210444970 0.49 [{'connected_gene': 'CPS1', 'score': 4.16}, {'connected_gene': 'LANCL1', 'score': 0.29}, {'connected_gene': 'GC02M210241', 'score': 0.15}, {'connected_gene': 'LANCL1-AS1', 'score': 0.13}]
chr2 GH02I210421 210421815 210422800 0.66 [{'connected_gene': 'CPS1', 'score': 12.27}, {'connected_gene': 'LANCL1', 'score': 0.22}, {'connected_gene': 'GC02M210241', 'score': 0.18}, {'connected_gene': 'LANCL1-AS1', 'score': 0.15}]
chr2 GH02I210472 210472434 210474472 0.2 [{'connected_gene': 'CPS1', 'score': 21.64}, {'connected_gene': 'LANCL1', 'score': 0.77}, {'connected_gene': 'GC02M210241', 'score': 0.12}]
chr2 GH02I210471 210471203 210472343 0.2 [{'connected_gene': 'CPS1', 'score': 24.46}, {'connected_gene': 'LANCL1', 'score': 0.44}, {'connected_gene': 'GC02M210241', 'score': 0.13}]
chr2 GH02I210503 210503201 210504708 0.89 [{'connected_gene': 'CPS1', 'score': 4.96}, {'connected_gene': 'LANCL1', 'score': 4.95}, {'connected_gene': 'GC02M210562', 'score': 0.2}]
chr2 GH02I210475 210475397 210478326 2.17 [{'connected_gene': 'CPS1', 'score': 575.77}, {'connected_gene': 'LANCL1', 'score': 550.77}, {'connected_gene': 'GC02M210241', 'score': 0.12}]
chr2 GH02I210453 210452030 210452891 0.31 [{'connected_gene': 'LANCL1', 'score': 11.73}, {'connected_gene': 'CPS1', 'score': 11.73}, {'connected_gene': 'GC02M210241', 'score': 0.14}, {'connected_gene': 'LANCL1-AS1', 'score': 0.13}]
chr2 GH02I210428 210428109 210430106 0.56 [{'connected_gene': 'LANCL1', 'score': 0.25}, {'connected_gene': 'GC02M210241', 'score': 0.17}, {'connected_gene': 'LANCL1-AS1', 'score': 0.15}]
chr2 GH02I210391 210391233 210393296 0.38 [{'connected_gene': 'GC02M210241', 'score': 0.25}, {'connected_gene': 'LANCL1-AS1', 'score': 0.2}, {'connected_gene': 'LANCL1', 'score': 0.17}]