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
ENST00000540941 [[37582642, 37585247], [37586034, 37586163], [37588809, 37588929], [37592249, 37592466]] [[37592250, 37592466]]
ENST00000377773 [[37588409, 37588929], [37592306, 37592594]] [[37588894, 37588929], [37592306, 37592529]]
ENST00000321301 [[37588409, 37588929], [37592408, 37592639]] [[37588894, 37588929], [37592408, 37592529]]
ENST00000401811 [[37588454, 37588929], [37592287, 37592601]] [[37588874, 37588929], [37592287, 37592529]]
ENST00000544379 [[37588638, 37588929], [37592249, 37592593]] [[37592250, 37592529]]
NM_001134484 [[37588409, 37588929], [37592249, 37592636]] [[37592250, 37592529]]
NM_001134485 [[37588409, 37588929], [37592306, 37592636]] [[37588894, 37588929], [37592306, 37592529]]
NM_001001790 [[37588409, 37588929], [37592408, 37592636]] [[37588894, 37588929], [37592408, 37592529]]
Promoter
Chrom Start End Description
chr9 37592532 37592558 CAGE_peak_2_at_TOMM5_5end
chr9 37592561 37592616 CAGE_peak_1_at_TOMM5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I037408 37408285 37410827 1.34 [{'connected_gene': 'ZBTB5', 'score': 10.43}, {'connected_gene': 'GRHPR', 'score': 7.81}, {'connected_gene': 'PAX5', 'score': 5.14}, {'connected_gene': 'ZCCHC7', 'score': 2.21}, {'connected_gene': 'TOMM5', 'score': 1.61}, {'connected_gene': 'POLR1E', 'score': 1.46}, {'connected_gene': 'LINC01627', 'score': 0.39}, {'connected_gene': 'LOC105376035', 'score': 0.26}]
chr9 GH09I037511 37511124 37511273 0.49 [{'connected_gene': 'ZBTB5', 'score': 11.0}, {'connected_gene': 'FBXO10', 'score': 10.52}, {'connected_gene': 'TOMM5', 'score': 10.49}, {'connected_gene': 'ENSG00000256966', 'score': 10.49}, {'connected_gene': 'FRMPD1', 'score': 9.79}, {'connected_gene': 'ENSG00000234160', 'score': 0.77}, {'connected_gene': 'PIR43909', 'score': 0.77}]
chr9 GH09I037485 37485062 37488539 2.21 [{'connected_gene': 'POLR1E', 'score': 580.95}, {'connected_gene': 'RPL21P83', 'score': 44.65}, {'connected_gene': 'ZCCHC7', 'score': 27.91}, {'connected_gene': 'EXOSC3', 'score': 23.7}, {'connected_gene': 'ZBTB5', 'score': 16.41}, {'connected_gene': 'FBXO10', 'score': 16.31}, {'connected_gene': 'ENSG00000234160', 'score': 12.54}, {'connected_gene': 'DCAF10', 'score': 11.04}, {'connected_gene': 'TOMM5', 'score': 10.79}, {'connected_gene': 'ENSG00000256966', 'score': 10.79}, {'connected_gene': 'TMX2P1', 'score': 9.83}, {'connected_gene': 'FRMPD1', 'score': 9.74}, {'connected_gene': 'GRHPR', 'score': 8.88}, {'connected_gene': 'GC09M037494', 'score': 0.77}]
chr9 GH09I037590 37590671 37593213 2.09 [{'connected_gene': 'TOMM5', 'score': 557.21}, {'connected_gene': 'ENSG00000256966', 'score': 550.77}, {'connected_gene': 'ZCCHC7', 'score': 27.9}, {'connected_gene': 'EXOSC3', 'score': 23.72}, {'connected_gene': 'DCAF10', 'score': 11.06}, {'connected_gene': 'TMX2P1', 'score': 9.84}, {'connected_gene': 'POLR1E', 'score': 9.09}, {'connected_gene': 'GC09P037586', 'score': 0.44}, {'connected_gene': 'ENSG00000255872', 'score': 0.04}]
chr9 GH09I037594 37593324 37593378 0.46 [{'connected_gene': 'TOMM5', 'score': 550.77}, {'connected_gene': 'ENSG00000256966', 'score': 550.77}, {'connected_gene': 'POLR1E', 'score': 9.75}, {'connected_gene': 'FRMPD1', 'score': 0.44}, {'connected_gene': 'ENSG00000255872', 'score': 0.04}]
chr9 GH09I037667 37667728 37668712 0.51 [{'connected_gene': 'TOMM5', 'score': 10.74}, {'connected_gene': 'ENSG00000256966', 'score': 10.74}, {'connected_gene': 'FBXO10', 'score': 10.72}, {'connected_gene': 'FRMPD1', 'score': 6.88}, {'connected_gene': 'GC09M037661', 'score': 0.44}, {'connected_gene': 'RN7SKP171', 'score': 0.44}, {'connected_gene': 'TRMT10B', 'score': 0.18}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037622 37622644 37622712 0.38 [{'connected_gene': 'TOMM5', 'score': 12.64}, {'connected_gene': 'ENSG00000256966', 'score': 12.64}, {'connected_gene': 'FBXO10', 'score': 12.59}, {'connected_gene': 'GC09M037636', 'score': 0.39}, {'connected_gene': 'FRMPD1', 'score': 0.37}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037621 37621384 37621533 0.43 [{'connected_gene': 'TOMM5', 'score': 12.66}, {'connected_gene': 'ENSG00000256966', 'score': 12.66}, {'connected_gene': 'FBXO10', 'score': 12.59}, {'connected_gene': 'GC09M037636', 'score': 0.37}, {'connected_gene': 'FRMPD1', 'score': 0.37}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037593 37593949 37595213 1 [{'connected_gene': 'TOMM5', 'score': 557.89}, {'connected_gene': 'FRMPD1', 'score': 0.44}, {'connected_gene': 'ENSG00000255872', 'score': 0.04}]
chr9 GH09I037550 37550443 37551699 0.38 [{'connected_gene': 'FBXO10', 'score': 20.13}, {'connected_gene': 'ENSG00000234160', 'score': 12.14}, {'connected_gene': 'TOMM5', 'score': 11.43}, {'connected_gene': 'ENSG00000256966', 'score': 11.43}, {'connected_gene': 'POLR1E', 'score': 11.08}, {'connected_gene': 'FRMPD1', 'score': 10.09}, {'connected_gene': 'PIR31436', 'score': 0.39}, {'connected_gene': 'GC09M037564', 'score': 0.37}]
chr9 GH09I037582 37582664 37582813 0.6 [{'connected_gene': 'FRMPD1', 'score': 10.86}, {'connected_gene': 'ZBTB5', 'score': 10.31}, {'connected_gene': 'GC09P037586', 'score': 0.77}, {'connected_gene': 'TOMM5', 'score': 0.44}, {'connected_gene': 'FBXO10', 'score': 0.44}, {'connected_gene': 'ENSG00000256966', 'score': 0.44}]
chr9 GH09I037602 37602464 37603433 0.74 [{'connected_gene': 'FRMPD1', 'score': 550.77}, {'connected_gene': 'POLR1E', 'score': 15.24}, {'connected_gene': 'TOMM5', 'score': 0.39}, {'connected_gene': 'ENSG00000255872', 'score': 0.04}]
chr9 GH09I037679 37679075 37679134 1.03 [{'connected_gene': 'FRMPD1', 'score': 561.2}, {'connected_gene': 'TOMM5', 'score': 11.26}, {'connected_gene': 'ENSG00000256966', 'score': 11.26}, {'connected_gene': 'FBXO10', 'score': 11.24}, {'connected_gene': 'GC09M037661', 'score': 0.37}, {'connected_gene': 'RN7SKP171', 'score': 0.37}, {'connected_gene': 'TRMT10B', 'score': 0.19}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037675 37675502 37678159 0.38 [{'connected_gene': 'FRMPD1', 'score': 19.52}, {'connected_gene': 'TOMM5', 'score': 11.55}, {'connected_gene': 'ENSG00000256966', 'score': 11.55}, {'connected_gene': 'FBXO10', 'score': 11.52}, {'connected_gene': 'RPL21P83', 'score': 5.95}, {'connected_gene': 'GC09M037661', 'score': 0.39}, {'connected_gene': 'RN7SKP171', 'score': 0.39}, {'connected_gene': 'TRMT10B', 'score': 0.18}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]