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
ENST00000380490 [[31309644, 31309812], [31318196, 31318296], [31326188, 31326259], [31330080, 31330162], [31338080, 31338556]] [[31309742, 31309812], [31318196, 31318296], [31326188, 31326259], [31330080, 31330162], [31338080, 31338243]]
ENST00000479597 [[31316472, 31316682], [31318196, 31318533]] None
NM_001204406 [[31287614, 31287978], [31309687, 31309812], [31318196, 31318296], [31326188, 31326259], [31330080, 31330162], [31338080, 31338565]] [[31287862, 31287978], [31309687, 31309812], [31318196, 31318296], [31326188, 31326259], [31330080, 31330162], [31338080, 31338243]]
NM_001629 [[31309644, 31309812], [31318196, 31318296], [31326188, 31326259], [31330080, 31330162], [31338080, 31338565]] [[31309742, 31309812], [31318196, 31318296], [31326188, 31326259], [31330080, 31330162], [31338080, 31338243]]
Promoter
Chrom Start End Description
chr13 31287614 31287629 CAGE_peak_3_at_ALOX5AP_5end
chr13 31309660 31309726 CAGE_peak_1_at_ALOX5AP_5end
chr13 31309728 31309739 CAGE_peak_2_at_ALOX5AP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I030718 30718360 30721200 1.2 [{'connected_gene': 'MEDAG', 'score': 9.6}, {'connected_gene': 'ALOX5AP', 'score': 7.44}, {'connected_gene': 'LINC00398', 'score': 0.18}]
chr13 GH13I030790 30790781 30793754 1.56 [{'connected_gene': 'HMGB1', 'score': 16.52}, {'connected_gene': 'USPL1', 'score': 10.28}, {'connected_gene': 'MEDAG', 'score': 9.75}, {'connected_gene': 'LINC00398', 'score': 0.39}, {'connected_gene': 'ALOX5AP', 'score': 0.18}]
chr13 GH13I030689 30689539 30691491 1.09 [{'connected_gene': 'ALOX5AP', 'score': 17.83}, {'connected_gene': 'MEDAG', 'score': 9.72}, {'connected_gene': 'USPL1', 'score': 4.23}, {'connected_gene': 'ENSG00000275788', 'score': 0.44}]
chr13 GH13I030742 30742300 30748341 1.6 [{'connected_gene': 'ALOX5AP', 'score': 38.86}, {'connected_gene': 'HMGB1', 'score': 6.11}, {'connected_gene': 'USPL1', 'score': 4.61}, {'connected_gene': 'LINC00398', 'score': 0.22}]
chr13 GH13I031044 31044402 31047704 1.32 [{'connected_gene': 'ALOX5AP', 'score': 1.25}, {'connected_gene': 'LOC102723392', 'score': 0.39}, {'connected_gene': 'LINC01066', 'score': 0.25}]
chr13 GH13I030681 30681163 30682713 0.76 [{'connected_gene': 'ALOX5AP', 'score': 23.03}, {'connected_gene': 'USPL1', 'score': 12.25}, {'connected_gene': 'HMGB1', 'score': 10.79}, {'connected_gene': 'MEDAG', 'score': 10.29}, {'connected_gene': 'ENSG00000275788', 'score': 0.77}, {'connected_gene': 'TRN-GTT2-4', 'score': 0.44}]
chr13 GH13I030679 30679384 30680112 0.52 [{'connected_gene': 'ALOX5AP', 'score': 12.44}, {'connected_gene': 'USPL1', 'score': 10.79}, {'connected_gene': 'HMGB1', 'score': 10.79}, {'connected_gene': 'MEDAG', 'score': 10.29}, {'connected_gene': 'ENSG00000275788', 'score': 0.77}, {'connected_gene': 'TRN-GTT2-4', 'score': 0.44}]
chr13 GH13I030714 30714592 30715400 0.54 [{'connected_gene': 'ALOX5AP', 'score': 599.23}, {'connected_gene': 'USPL1', 'score': 15.55}, {'connected_gene': 'HMGB1', 'score': 10.59}, {'connected_gene': 'LINC00398', 'score': 0.17}]
chr13 GH13I030734 30734080 30741222 2.04 [{'connected_gene': 'ALOX5AP', 'score': 607.67}, {'connected_gene': 'USPL1', 'score': 8.89}, {'connected_gene': 'LINC00398', 'score': 0.2}]
chr13 GH13I030751 30751945 30752989 0.58 [{'connected_gene': 'ALOX5AP', 'score': 0.28}, {'connected_gene': 'LINC00398', 'score': 0.23}]
chr13 GH13I030766 30766843 30767980 0.69 [{'connected_gene': 'ALOX5AP', 'score': 7.29}, {'connected_gene': 'LINC00398', 'score': 0.28}]
chr13 GH13I030730 30730158 30731375 0.74 [{'connected_gene': 'ALOX5AP', 'score': 4.93}, {'connected_gene': 'LINC00398', 'score': 0.19}]
chr13 GH13I030712 30712540 30714000 1.36 [{'connected_gene': 'ALOX5AP', 'score': 550.77}, {'connected_gene': 'ENSG00000275788', 'score': 0.31}]
chr13 GH13I030795 30795690 30797935 1.43 [{'connected_gene': 'USPL1', 'score': 10.3}, {'connected_gene': 'HMGB1', 'score': 10.3}, {'connected_gene': 'ALOX5AP', 'score': 3.67}, {'connected_gene': 'LINC00398', 'score': 0.44}]
chr13 GH13I030773 30773501 30775449 0.31 [{'connected_gene': 'LINC00398', 'score': 0.31}, {'connected_gene': 'ALOX5AP', 'score': 0.21}]
chr13 GH13I030798 30798185 30800339 0.83 [{'connected_gene': 'LINC00398', 'score': 0.77}, {'connected_gene': 'ALOX5AP', 'score': 0.17}]
chr13 GH13I030697 30697343 30698882 0.72 [{'connected_gene': 'ENSG00000275788', 'score': 0.39}, {'connected_gene': 'ALOX5AP', 'score': 0.37}]
chr13 GH13I030696 30696173 30697200 0.79 [{'connected_gene': 'ENSG00000275788', 'score': 0.39}, {'connected_gene': 'ALOX5AP', 'score': 0.37}]