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
ENST00000558195 [[84841241, 84841337], [84842759, 84842909], [84850733, 84850986]] [[84841253, 84841337], [84842759, 84842909], [84850733, 84850895]]
NM_001243531 [[84841241, 84841337], [84842759, 84842909], [84850733, 84850985]] [[84841253, 84841337], [84842759, 84842909], [84850733, 84850895]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I084833 84832570 84832719 0.79 [{'connected_gene': 'ZNF592', 'score': 10.21}, {'connected_gene': 'UBE2Q2L', 'score': 4.24}, {'connected_gene': 'ALPK3', 'score': 0.37}, {'connected_gene': 'GC15P084852', 'score': 0.37}]
chr15 GH15I084816 84816588 84826227 2.03 [{'connected_gene': 'WDR73', 'score': 26.56}, {'connected_gene': 'ZNF592', 'score': 20.32}, {'connected_gene': 'ALPK3', 'score': 17.96}, {'connected_gene': 'NMB', 'score': 15.37}, {'connected_gene': 'GOLGA6L5P', 'score': 14.4}, {'connected_gene': 'ENSG00000200991', 'score': 11.86}, {'connected_gene': 'SLC28A1', 'score': 11.82}, {'connected_gene': 'GOLGA6L3', 'score': 11.4}, {'connected_gene': 'SEC11A', 'score': 10.35}, {'connected_gene': 'ENSG00000259683', 'score': 5.02}, {'connected_gene': 'SCAND2P', 'score': 4.7}, {'connected_gene': 'UBE2Q2L', 'score': 4.25}, {'connected_gene': 'GC15P084852', 'score': 0.31}]
chr15 GH15I083561 83561164 83569051 0.66 [{'connected_gene': 'ADAMTSL3', 'score': 6.03}, {'connected_gene': 'HOMER2', 'score': 5.67}, {'connected_gene': 'GOLGA6L5P', 'score': 5.56}, {'connected_gene': 'ACTG1P17', 'score': 5.13}, {'connected_gene': 'RN7SL331P', 'score': 5.0}, {'connected_gene': 'UBE2Q2L', 'score': 4.83}, {'connected_gene': 'GOLGA2P7', 'score': 4.6}, {'connected_gene': 'GC15P083560', 'score': 0.77}, {'connected_gene': 'GC15M083567', 'score': 0.77}, {'connected_gene': 'SH3GL3', 'score': 0.13}]
chr15 GH15I084714 84714243 84717679 2.32 [{'connected_gene': 'SEC11A', 'score': 550.77}, {'connected_gene': 'SCAND2P', 'score': 83.97}, {'connected_gene': 'WDR73', 'score': 74.75}, {'connected_gene': 'NMB', 'score': 39.58}, {'connected_gene': 'GOLGA6L5P', 'score': 33.07}, {'connected_gene': 'ZNF592', 'score': 28.76}, {'connected_gene': 'LINC00933', 'score': 22.65}, {'connected_gene': 'UBE2Q2P1', 'score': 21.97}, {'connected_gene': 'GOLGA6L4', 'score': 21.78}, {'connected_gene': 'CSPG4P12', 'score': 21.28}, {'connected_gene': 'ENSG00000259683', 'score': 16.05}, {'connected_gene': 'ALPK3', 'score': 15.9}, {'connected_gene': 'GOLGA6L3', 'score': 15.87}, {'connected_gene': 'DNM1P51', 'score': 13.42}, {'connected_gene': 'CSPG4P11', 'score': 12.06}, {'connected_gene': 'UBE2Q2L', 'score': 11.64}, {'connected_gene': 'LOC103171574', 'score': 11.16}, {'connected_gene': 'RN7SL331P', 'score': 4.74}, {'connected_gene': 'ENSG00000259654', 'score': 0.29}]
chr15 GH15I083970 83970187 83970934 0.38 [{'connected_gene': 'RNU6-401P', 'score': 9.71}, {'connected_gene': 'UBE2Q2L', 'score': 5.97}, {'connected_gene': 'RN7SL331P', 'score': 4.48}, {'connected_gene': 'ENSG00000274128', 'score': 0.44}, {'connected_gene': 'LOC642677', 'score': 0.14}, {'connected_gene': 'ADAMTSL3', 'score': 0.06}]
chr15 GH15I084832 84832734 84843179 1.28 [{'connected_gene': 'NMB', 'score': 48.72}, {'connected_gene': 'ALPK3', 'score': 22.4}, {'connected_gene': 'ZNF592', 'score': 16.6}, {'connected_gene': 'GOLGA6L5P', 'score': 13.7}, {'connected_gene': 'GOLGA6L4', 'score': 11.93}, {'connected_gene': 'LINC00933', 'score': 11.18}, {'connected_gene': 'CSPG4P11', 'score': 10.53}, {'connected_gene': 'WDR73', 'score': 10.4}, {'connected_gene': 'SCAND2P', 'score': 8.38}, {'connected_gene': 'ENSG00000259683', 'score': 4.65}, {'connected_gene': 'UBE2Q2L', 'score': 4.24}, {'connected_gene': 'GC15P084852', 'score': 0.39}]
chr15 GH15I083570 83570418 83576206 0.59 [{'connected_gene': 'GC15P083571', 'score': 550.77}, {'connected_gene': 'ADAMTSL3', 'score': 6.07}, {'connected_gene': 'ENSG00000259683', 'score': 5.19}, {'connected_gene': 'ACTG1P17', 'score': 5.14}, {'connected_gene': 'GOLGA6L5P', 'score': 5.09}, {'connected_gene': 'GOLGA2P7', 'score': 5.06}, {'connected_gene': 'UBE2Q2L', 'score': 5.02}, {'connected_gene': 'UBE2Q2P1', 'score': 3.97}, {'connected_gene': 'GC15P083593', 'score': 0.37}, {'connected_gene': 'SH3GL3', 'score': 0.13}]
chr15 GH15I085023 85023142 85023600 0.38 [{'connected_gene': 'GC15P085023', 'score': 550.77}, {'connected_gene': 'DNM1P51', 'score': 20.27}, {'connected_gene': 'ENSG00000259683', 'score': 18.37}, {'connected_gene': 'UBE2Q2L', 'score': 18.12}, {'connected_gene': 'GOLGA6L3', 'score': 16.73}, {'connected_gene': 'LOC103171574', 'score': 16.59}, {'connected_gene': 'CSPG4P12', 'score': 13.66}, {'connected_gene': 'GOLGA2P7', 'score': 4.42}, {'connected_gene': 'GC15P085002', 'score': 0.34}, {'connected_gene': 'PDE8A', 'score': 0.26}]
chr15 GH15I084172 84172200 84173801 1.11 [{'connected_gene': 'ENSG00000259694', 'score': 550.77}, {'connected_gene': 'UBE2Q2L', 'score': 550.77}, {'connected_gene': 'WDR73', 'score': 14.36}, {'connected_gene': 'SCAND2P', 'score': 12.07}, {'connected_gene': 'RN7SL331P', 'score': 10.7}, {'connected_gene': 'LINC00933', 'score': 9.86}]