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
ENST00000533752 [[76493294, 76493477], [76506652, 76507112]] [[76506660, 76507112]]
ENST00000333090 [[76494282, 76494448], [76506652, 76509198]] [[76506660, 76507722]]
ENST00000525167 [[76495191, 76495409], [76506652, 76506976]] [[76506660, 76506976]]
ENST00000527881 [[76502795, 76503813], [76506652, 76509188]] [[76506660, 76507722]]
NM_001258210 [[76493356, 76493477], [76506652, 76509198]] [[76506660, 76507722]]
NM_015516 [[76494284, 76494448], [76506652, 76509198]] [[76506660, 76507722]]
NM_001318479 [[76495191, 76495220], [76506652, 76509198]] [[76506660, 76507722]]
NM_001318478 [[76495191, 76495409], [76506652, 76509198]] [[76506660, 76507722]]
NM_001318477 [[76502795, 76503813], [76506652, 76509198]] [[76503779, 76503813], [76506652, 76507722]]
Promoter
Chrom Start End Description
chr11 76493294 76493332 CAGE_peak_5_at_TSKU_5end
chr11 76494253 76494317 CAGE_peak_3_at_TSKU_5end
chr11 76494340 76494391 CAGE_peak_1_at_TSKU_5end
chr11 76494393 76494407 CAGE_peak_2_at_TSKU_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I076768 76767391 76773562 1.38 [{'connected_gene': 'EMSY', 'score': 16.52}, {'connected_gene': 'LOC101928837', 'score': 14.66}, {'connected_gene': 'UVRAG', 'score': 12.02}, {'connected_gene': 'ENSG00000254632', 'score': 9.42}, {'connected_gene': 'TSKU', 'score': 0.39}]
chr11 GH11I076379 76379342 76382989 2.05 [{'connected_gene': 'THAP12', 'score': 555.6}, {'connected_gene': 'GVQW3', 'score': 555.24}, {'connected_gene': 'TSKU', 'score': 14.67}, {'connected_gene': 'ENSG00000261578', 'score': 12.5}, {'connected_gene': 'EMSY', 'score': 11.02}, {'connected_gene': 'ENSG00000255363', 'score': 10.78}, {'connected_gene': 'LOC101928837', 'score': 10.71}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'ENSG00000255135', 'score': 5.62}]
chr11 GH11I076911 76911217 76911366 0.76 [{'connected_gene': 'ACER3', 'score': 17.5}, {'connected_gene': 'TSKU', 'score': 11.21}, {'connected_gene': 'LOC101928837', 'score': 11.21}, {'connected_gene': 'ENSG00000254632', 'score': 10.21}, {'connected_gene': 'ENSG00000254988', 'score': 0.2}]
chr11 GH11I076806 76806978 76808126 1.25 [{'connected_gene': 'ACER3', 'score': 17.91}, {'connected_gene': 'LOC101928837', 'score': 12.21}, {'connected_gene': 'TSKU', 'score': 12.18}, {'connected_gene': 'ENSG00000255363', 'score': 10.8}, {'connected_gene': 'EMSY', 'score': 10.16}, {'connected_gene': 'B3GNT6', 'score': 5.79}, {'connected_gene': 'ENSG00000261578', 'score': 0.44}]
chr11 GH11I076810 76810201 76810800 0.77 [{'connected_gene': 'TSKU', 'score': 12.18}, {'connected_gene': 'LOC101928837', 'score': 12.18}, {'connected_gene': 'ACER3', 'score': 11.64}, {'connected_gene': 'ENSG00000261578', 'score': 0.39}]
chr11 GH11I076766 76766077 76766226 0.77 [{'connected_gene': 'TSKU', 'score': 8.91}, {'connected_gene': 'ENSG00000254632', 'score': 0.77}, {'connected_gene': 'GC11P076754', 'score': 0.39}]
chr11 GH11I076698 76698317 76705176 1.42 [{'connected_gene': 'LOC107984360', 'score': 11.7}, {'connected_gene': 'ENSG00000254810', 'score': 11.68}, {'connected_gene': 'TSKU', 'score': 11.37}, {'connected_gene': 'LOC101928837', 'score': 11.37}, {'connected_gene': 'ENSG00000254632', 'score': 10.89}, {'connected_gene': 'ACER3', 'score': 10.22}, {'connected_gene': 'EMSY', 'score': 10.18}, {'connected_gene': 'GC11P076710', 'score': 0.44}, {'connected_gene': 'GUCY2EP', 'score': 0.34}, {'connected_gene': 'ENSG00000254975', 'score': 0.31}]
chr11 GH11I076780 76780724 76785733 2.28 [{'connected_gene': 'LOC101928837', 'score': 567.45}, {'connected_gene': 'TSKU', 'score': 558.26}, {'connected_gene': 'EMSY', 'score': 16.52}, {'connected_gene': 'UVRAG', 'score': 12.02}, {'connected_gene': 'ENSG00000254632', 'score': 6.26}, {'connected_gene': 'GC11P076787', 'score': 0.77}]
chr11 GH11I076773 76773584 76774432 1.07 [{'connected_gene': 'LOC101928837', 'score': 14.76}, {'connected_gene': 'ENSG00000254632', 'score': 9.59}, {'connected_gene': 'TSKU', 'score': 0.44}]
chr11 GH11I076791 76791311 76792340 0.54 [{'connected_gene': 'LOC101928837', 'score': 14.63}, {'connected_gene': 'ENSG00000254632', 'score': 12.74}, {'connected_gene': 'GC11P076787', 'score': 0.77}, {'connected_gene': 'ENSG00000261578', 'score': 0.44}, {'connected_gene': 'TSKU', 'score': 0.44}]
chr11 GH11I076794 76794651 76797679 0.31 [{'connected_gene': 'ENSG00000254632', 'score': 12.19}, {'connected_gene': 'ACER3', 'score': 10.72}, {'connected_gene': 'ENSG00000261578', 'score': 6.33}, {'connected_gene': 'GC11P076787', 'score': 0.44}, {'connected_gene': 'TSKU', 'score': 0.39}]
chr11 GH11I076786 76786614 76790685 1.34 [{'connected_gene': 'GC11P076787', 'score': 550.77}, {'connected_gene': 'LOC101928837', 'score': 24.98}, {'connected_gene': 'ENSG00000254632', 'score': 21.47}, {'connected_gene': 'ENSG00000261578', 'score': 15.87}, {'connected_gene': 'TSKU', 'score': 15.06}]
chr11 GH11I076793 76793016 76794449 0.92 [{'connected_gene': 'ENSG00000254632', 'score': 22.21}, {'connected_gene': 'LOC101928837', 'score': 14.82}, {'connected_gene': 'ENSG00000254810', 'score': 10.6}, {'connected_gene': 'LOC107984360', 'score': 10.6}, {'connected_gene': 'ENSG00000261578', 'score': 0.44}, {'connected_gene': 'GC11P076787', 'score': 0.44}, {'connected_gene': 'TSKU', 'score': 0.39}]