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
ENST00000253697 [[14716605, 14716759], [14723676, 14723838], [14724084, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814541]] [[14724220, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814382]]
ENST00000435614 [[14716647, 14716759], [14723676, 14723838], [14724481, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814512]] [[14724586, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814382]]
ENST00000412910 [[14716685, 14716759], [14723781, 14723838], [14724481, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814541]] [[14724586, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814382]]
ENST00000495387 [[14745861, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14763580, 14763746]] None
NM_001184957 [[14716605, 14716759], [14723781, 14723838], [14724481, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814543]] [[14724586, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814382]]
NM_001184958 [[14716605, 14716759], [14723676, 14723838], [14724481, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814543]] [[14724586, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814382]]
NM_032137 [[14716605, 14716759], [14723676, 14723838], [14724084, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814543]] [[14724220, 14724704], [14725748, 14725889], [14731503, 14731623], [14744636, 14744769], [14745843, 14746125], [14755513, 14755666], [14756795, 14756916], [14763159, 14763291], [14768407, 14768531], [14769945, 14770195], [14798877, 14799181], [14801397, 14801505], [14802979, 14803122], [14813573, 14813708], [14814297, 14814382]]
Promoter
Chrom Start End Description
chr3 14716634 14716653 CAGE_peak_2_at_C3orf20_5end
chr3 14798458 14798462 CAGE_peak_1_at_C3orf20_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I014828 14828826 14828841 0.22 [{'connected_gene': 'C3orf20', 'score': 10.56}, {'connected_gene': 'GRIP2', 'score': 7.24}, {'connected_gene': 'PIR49239', 'score': 0.44}, {'connected_gene': 'FGD5', 'score': 0.37}, {'connected_gene': 'LOC105376963', 'score': 0.16}]
chr3 GH03I014673 14673608 14673689 0.5 [{'connected_gene': 'C3orf20', 'score': 561.44}, {'connected_gene': 'CCDC174', 'score': 7.42}, {'connected_gene': 'NR2C2', 'score': 1.37}]
chr3 GH03I014884 14884081 14884820 0.43 [{'connected_gene': 'C3orf20', 'score': 10.67}, {'connected_gene': 'CCDC174', 'score': 9.91}, {'connected_gene': 'LOC105376963', 'score': 0.28}, {'connected_gene': 'PIR49239', 'score': 0.21}, {'connected_gene': 'FGD5', 'score': 0.19}]
chr3 GH03I014933 14933101 14937693 0.54 [{'connected_gene': 'C3orf20', 'score': 10.47}, {'connected_gene': 'CCDC174', 'score': 10.17}, {'connected_gene': 'FGD5-AS1', 'score': 10.16}, {'connected_gene': 'ENSG00000235629', 'score': 9.76}, {'connected_gene': 'COLQ', 'score': 4.67}, {'connected_gene': 'RPS3AP53', 'score': 4.67}, {'connected_gene': 'PIR33304', 'score': 0.44}, {'connected_gene': 'PIR49010', 'score': 0.44}, {'connected_gene': 'FGD5', 'score': 0.13}]
chr3 GH03I014724 14724694 14727182 0.82 [{'connected_gene': 'C3orf20', 'score': 21.26}, {'connected_gene': 'ENSG00000230172', 'score': 12.15}, {'connected_gene': 'CCDC174', 'score': 10.55}, {'connected_gene': 'ENSG00000235629', 'score': 9.94}, {'connected_gene': 'PIR53505', 'score': 0.39}, {'connected_gene': 'PIR51472', 'score': 0.25}]
chr3 GH03I014831 14831297 14834475 0.62 [{'connected_gene': 'C3orf20', 'score': 10.55}, {'connected_gene': 'PIR49239', 'score': 0.39}, {'connected_gene': 'FGD5', 'score': 0.34}, {'connected_gene': 'LOC105376963', 'score': 0.17}]
chr3 GH03I014822 14822801 14823999 0.83 [{'connected_gene': 'C3orf20', 'score': 11.24}, {'connected_gene': 'PIR49239', 'score': 0.77}, {'connected_gene': 'FGD5', 'score': 0.39}, {'connected_gene': 'LOC105376963', 'score': 0.15}]
chr3 GH03I014634 14634834 14634983 0.31 [{'connected_gene': 'C3orf20', 'score': 10.81}, {'connected_gene': 'ENSG00000230172', 'score': 10.73}, {'connected_gene': 'PIR36019', 'score': 0.39}, {'connected_gene': 'LOC105376960', 'score': 0.29}, {'connected_gene': 'GRIP2', 'score': 0.29}]
chr3 GH03I014841 14841572 14843739 0.38 [{'connected_gene': 'C3orf20', 'score': 10.5}, {'connected_gene': 'FGD5-AS1', 'score': 4.53}, {'connected_gene': 'PIR49239', 'score': 0.34}, {'connected_gene': 'FGD5', 'score': 0.29}, {'connected_gene': 'LOC105376963', 'score': 0.18}]
chr3 GH03I014675 14675092 14675151 0.5 [{'connected_gene': 'C3orf20', 'score': 550.77}, {'connected_gene': 'PIR51472', 'score': 0.77}]
chr3 GH03I014207 14207582 14212707 1.09 [{'connected_gene': 'SLC6A6', 'score': 14.21}, {'connected_gene': 'XPC', 'score': 6.24}, {'connected_gene': 'C3orf20', 'score': 4.69}, {'connected_gene': 'CHCHD4', 'score': 4.55}, {'connected_gene': 'GC03P014217', 'score': 0.44}]
chr3 GH03I014687 14687182 14688143 0.43 [{'connected_gene': 'CCDC174', 'score': 4.59}, {'connected_gene': 'PIR51472', 'score': 0.44}, {'connected_gene': 'C3orf20', 'score': 0.39}, {'connected_gene': 'PIR53505', 'score': 0.23}]
chr3 GH03I014885 14885022 14885600 0.89 [{'connected_gene': 'FGD5', 'score': 12.43}, {'connected_gene': 'C3orf20', 'score': 10.67}, {'connected_gene': 'CCDC174', 'score': 10.07}, {'connected_gene': 'ENSG00000235629', 'score': 10.06}, {'connected_gene': 'FGD5-AS1', 'score': 5.02}, {'connected_gene': 'LOC105376963', 'score': 0.28}, {'connected_gene': 'PIR49239', 'score': 0.21}]
chr3 GH03I014783 14783359 14786574 0.57 [{'connected_gene': 'FGD5', 'score': 12.74}, {'connected_gene': 'C3orf20', 'score': 11.92}, {'connected_gene': 'ENSG00000235629', 'score': 10.38}, {'connected_gene': 'CCDC174', 'score': 10.38}, {'connected_gene': 'PIR61652', 'score': 0.44}]
chr3 GH03I014839 14837095 14838481 0.89 [{'connected_gene': 'ENSG00000230172', 'score': 10.96}, {'connected_gene': 'C3orf20', 'score': 10.63}, {'connected_gene': 'TMEM43', 'score': 5.13}, {'connected_gene': 'PIR49239', 'score': 0.37}, {'connected_gene': 'FGD5', 'score': 0.31}, {'connected_gene': 'LOC105376963', 'score': 0.18}]
chr3 GH03I014838 14838608 14839308 0.49 [{'connected_gene': 'ENSG00000230172', 'score': 10.96}, {'connected_gene': 'C3orf20', 'score': 10.63}, {'connected_gene': 'PIR49239', 'score': 0.37}, {'connected_gene': 'FGD5', 'score': 0.31}, {'connected_gene': 'LOC105376963', 'score': 0.18}]
chr3 GH03I014925 14925774 14925883 0.64 [{'connected_gene': 'PIR33304', 'score': 550.77}, {'connected_gene': 'C3orf20', 'score': 11.29}, {'connected_gene': 'LOC105376963', 'score': 0.77}, {'connected_gene': 'FGD5-AS1', 'score': 0.34}, {'connected_gene': 'FGD5', 'score': 0.14}]
chr3 GH03I014688 14688648 14688770 0.49 [{'connected_gene': 'PIR51472', 'score': 0.44}, {'connected_gene': 'C3orf20', 'score': 0.39}, {'connected_gene': 'PIR53505', 'score': 0.23}]
chr3 GH03I014689 14689801 14690200 0.2 [{'connected_gene': 'PIR51472', 'score': 0.44}, {'connected_gene': 'C3orf20', 'score': 0.37}, {'connected_gene': 'PIR53505', 'score': 0.25}]
chr3 GH03I014677 14677673 14679157 0.92 [{'connected_gene': 'PIR51472', 'score': 550.77}, {'connected_gene': 'CCDC174', 'score': 22.31}, {'connected_gene': 'ENSG00000230172', 'score': 10.78}, {'connected_gene': 'C3orf20', 'score': 0.77}]
chr3 GH03I014680 14680834 14680943 0.52 [{'connected_gene': 'PIR51472', 'score': 550.77}, {'connected_gene': 'CCDC174', 'score': 10.62}, {'connected_gene': 'C3orf20', 'score': 0.44}, {'connected_gene': 'PIR53505', 'score': 0.22}]
chr3 GH03I014765 14765819 14770486 0.46 [{'connected_gene': 'ENSG00000230172', 'score': 550.77}, {'connected_gene': 'CAPN7', 'score': 16.37}, {'connected_gene': 'CCDC174', 'score': 11.43}, {'connected_gene': 'NR2C2', 'score': 11.32}, {'connected_gene': 'XPC', 'score': 11.25}, {'connected_gene': 'C3orf20', 'score': 8.31}, {'connected_gene': 'LINC01267', 'score': 5.95}, {'connected_gene': 'PIR61652', 'score': 0.44}]
chr3 GH03I014941 14941681 14944394 0.63 [{'connected_gene': 'PIR49010', 'score': 550.77}, {'connected_gene': 'FGD5-AS1', 'score': 11.06}, {'connected_gene': 'C3orf20', 'score': 10.46}, {'connected_gene': 'ENSG00000235629', 'score': 10.02}, {'connected_gene': 'CCDC174', 'score': 10.02}, {'connected_gene': 'PIR33304', 'score': 0.37}]