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
ENST00000302328 [[38887259, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38992052]] [[38888184, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38991853]]
ENST00000450244 [[38887259, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987001], [38988277, 38988398], [38991586, 38992052]] [[38888184, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987001], [38988277, 38988398], [38991586, 38991853]]
ENST00000456224 [[38888184, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38991853]] [[38888184, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38991853]]
ENST00000444237 [[38890768, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38992052]] [[38891963, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38991853]]
NM_014139 [[38887259, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38992052]] [[38888184, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38991853]]
NM_001287223 [[38887259, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38991860], [38995119, 38995142]] [[38888184, 38889233], [38891971, 38892242], [38904685, 38904790], [38908811, 38908949], [38912181, 38912235], [38912935, 38913199], [38913683, 38913785], [38921440, 38921614], [38924723, 38924878], [38926778, 38926893], [38927615, 38927729], [38936023, 38936455], [38938335, 38938716], [38941384, 38941564], [38945355, 38945594], [38946682, 38946812], [38949439, 38949613], [38950487, 38950685], [38951556, 38951698], [38961425, 38961492], [38962566, 38962746], [38966905, 38967000], [38968293, 38968422], [38986901, 38987003], [38988279, 38988398], [38991586, 38991853]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I038346 38346150 38348133 2.07 [{'connected_gene': 'XYLB', 'score': 555.89}, {'connected_gene': 'OXSR1', 'score': 14.19}, {'connected_gene': 'GORASP1', 'score': 11.11}, {'connected_gene': 'WDR48', 'score': 10.76}, {'connected_gene': 'SCN11A', 'score': 4.07}, {'connected_gene': 'PIR42930', 'score': 0.26}]
chr3 GH03I038985 38985411 38987000 0.58 [{'connected_gene': 'GORASP1', 'score': 14.69}, {'connected_gene': 'TTC21A', 'score': 11.39}, {'connected_gene': 'RNU6-1227P', 'score': 10.89}, {'connected_gene': 'SCN11A', 'score': 4.4}, {'connected_gene': 'PIR61629', 'score': 0.37}]
chr3 GH03I039106 39106225 39108964 2 [{'connected_gene': 'TTC21A', 'score': 568.64}, {'connected_gene': 'GORASP1', 'score': 563.62}, {'connected_gene': 'CX3CR1', 'score': 21.66}, {'connected_gene': 'CSRNP1', 'score': 11.68}, {'connected_gene': 'MOBP', 'score': 11.34}, {'connected_gene': 'SCN11A', 'score': 4.29}, {'connected_gene': 'PIR55888', 'score': 0.44}, {'connected_gene': 'GC03M039097', 'score': 0.44}]
chr3 GH03I038961 38961070 38961219 0.72 [{'connected_gene': 'ENSG00000231243', 'score': 9.61}, {'connected_gene': 'SCN11A', 'score': 5.28}, {'connected_gene': 'PIR61629', 'score': 0.44}]
chr3 GH03I038527 38527146 38527730 0.47 [{'connected_gene': 'PIR61865', 'score': 550.77}, {'connected_gene': 'PIR49321', 'score': 550.77}, {'connected_gene': 'PIR31167', 'score': 550.77}, {'connected_gene': 'GC03P038527', 'score': 550.77}, {'connected_gene': 'PIR44083', 'score': 550.77}, {'connected_gene': 'PIR53009', 'score': 550.77}, {'connected_gene': 'RPL18AP7', 'score': 550.77}, {'connected_gene': 'EXOG', 'score': 13.51}, {'connected_gene': 'SCN10A', 'score': 5.03}, {'connected_gene': 'SLC22A14', 'score': 4.8}, {'connected_gene': 'SCN11A', 'score': 1.51}]