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
ENST00000244565 [[40994771, 40996334], [40998126, 40998240], [40998393, 40998494], [40999419, 40999487], [40999774, 40999876], [41000622, 41000885], [41001619, 41001920], [41002428, 41002874], [41006900, 41006928]] [[40996111, 40996334], [40998126, 40998240], [40998393, 40998494], [40999419, 40999487], [40999774, 40999876], [41000622, 41000885], [41001619, 41001920], [41002428, 41002813]]
ENST00000373164 [[40996109, 40996334], [40998126, 40998240], [40998393, 40998494], [40999419, 40999487], [40999774, 40999876], [41000622, 41000885], [41001619, 41001920], [41002428, 41002874]] [[40996111, 40996334], [40998126, 40998240], [40998393, 40998494], [40999419, 40999487], [40999774, 40999876], [41000622, 41000885], [41001619, 41001920], [41002428, 41002813]]
ENST00000470102 [[40996111, 40996334], [40998126, 40998240], [40998393, 40998494], [40999774, 40999876], [41000622, 41000726]] None
NM_173561 [[40994639, 40996334], [40998126, 40998240], [40998393, 40998494], [40999419, 40999487], [40999774, 40999876], [41000622, 41000885], [41001619, 41001920], [41002428, 41002874], [41006900, 41006938]] [[40996111, 40996334], [40998126, 40998240], [40998393, 40998494], [40999419, 40999487], [40999774, 40999876], [41000622, 41000885], [41001619, 41001920], [41002428, 41002813]]
Promoter
Chrom Start End Description
chr6 41006941 41006968 CAGE_peak_1_at_UNC5CL_5end
chr6 41006987 41006998 CAGE_peak_2_at_UNC5CL_5end
chr6 41007060 41007069 CAGE_peak_5_at_UNC5CL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I041171 41171448 41172212 0.68 [{'connected_gene': 'TREML2', 'score': 12.24}, {'connected_gene': 'TSPO2', 'score': 9.84}, {'connected_gene': 'UNC5CL', 'score': 9.84}, {'connected_gene': 'TREM2', 'score': 0.44}, {'connected_gene': 'LOC105375056', 'score': 0.29}]
chr6 GH06I041070 41070635 41076532 2.32 [{'connected_gene': 'NFYA', 'score': 550.77}, {'connected_gene': 'OARD1', 'score': 550.34}, {'connected_gene': 'ADCY10P1', 'score': 37.47}, {'connected_gene': 'TAF8', 'score': 19.81}, {'connected_gene': 'FRS3', 'score': 11.21}, {'connected_gene': 'TSPO2', 'score': 10.65}, {'connected_gene': 'UNC5CL', 'score': 10.65}, {'connected_gene': 'APOBEC2', 'score': 7.7}]
chr6 GH06I040936 40936119 40938206 0.92 [{'connected_gene': 'UNC5CL', 'score': 12.9}, {'connected_gene': 'TSPO2', 'score': 10.71}, {'connected_gene': 'GC06P042401', 'score': 0.34}, {'connected_gene': 'LOC101929555', 'score': 0.17}]
chr6 GH06I040928 40928143 40931276 0.66 [{'connected_gene': 'UNC5CL', 'score': 10.14}, {'connected_gene': 'TSPO2', 'score': 10.13}, {'connected_gene': 'GC06P042401', 'score': 0.37}, {'connected_gene': 'LOC101929555', 'score': 0.16}]
chr6 GH06I041036 41036037 41041755 1.85 [{'connected_gene': 'UNC5CL', 'score': 558.88}, {'connected_gene': 'APOBEC2', 'score': 7.26}, {'connected_gene': 'TSPO2', 'score': 3.46}, {'connected_gene': 'LOC101929555', 'score': 0.37}, {'connected_gene': 'OARD1', 'score': 0.22}]
chr6 GH06I040995 40995297 41000613 1.2 [{'connected_gene': 'TSPO2', 'score': 11.87}, {'connected_gene': 'UNC5CL', 'score': 11.87}, {'connected_gene': 'NFYA', 'score': 4.95}, {'connected_gene': 'LOC101929555', 'score': 0.31}, {'connected_gene': 'GC06P042401', 'score': 0.17}]
chr6 GH06I041079 41079832 41080348 0.31 [{'connected_gene': 'TSPO2', 'score': 10.18}, {'connected_gene': 'UNC5CL', 'score': 10.16}, {'connected_gene': 'TREML1', 'score': 9.63}, {'connected_gene': 'NFYA', 'score': 0.44}, {'connected_gene': 'OARD1', 'score': 0.37}]
chr6 GH06I041080 41080801 41081000 0.4 [{'connected_gene': 'TSPO2', 'score': 10.18}, {'connected_gene': 'UNC5CL', 'score': 10.16}, {'connected_gene': 'TREML1', 'score': 9.63}, {'connected_gene': 'NFYA', 'score': 0.44}, {'connected_gene': 'OARD1', 'score': 0.37}]
chr6 GH06I041066 41066922 41067131 0.95 [{'connected_gene': 'TSPO2', 'score': 11.6}, {'connected_gene': 'UNC5CL', 'score': 11.6}, {'connected_gene': 'APOBEC2', 'score': 7.76}, {'connected_gene': 'NFYA', 'score': 0.44}, {'connected_gene': 'OARD1', 'score': 0.29}]
chr6 GH06I040961 40961276 40963101 1.14 [{'connected_gene': 'TSPO2', 'score': 10.32}, {'connected_gene': 'UNC5CL', 'score': 10.32}, {'connected_gene': 'GC06P042401', 'score': 0.25}, {'connected_gene': 'LOC101929555', 'score': 0.21}]
chr6 GH06I040953 40953933 40960239 1.13 [{'connected_gene': 'ADCY10P1', 'score': 14.03}, {'connected_gene': 'TSPO2', 'score': 10.31}, {'connected_gene': 'UNC5CL', 'score': 10.31}, {'connected_gene': 'GC06P042401', 'score': 0.26}, {'connected_gene': 'LOC101929555', 'score': 0.2}]
chr6 GH06I041062 41062355 41066782 1.32 [{'connected_gene': 'ADCY10P1', 'score': 36.39}, {'connected_gene': 'APOBEC2', 'score': 13.61}, {'connected_gene': 'TSPO2', 'score': 12.25}, {'connected_gene': 'UNC5CL', 'score': 12.22}, {'connected_gene': 'NFYA', 'score': 0.44}, {'connected_gene': 'OARD1', 'score': 0.29}]
chr6 GH06I041026 41026019 41029611 1.19 [{'connected_gene': 'APOBEC2', 'score': 6.77}, {'connected_gene': 'UNC5CL', 'score': 6.68}, {'connected_gene': 'LOC101929555', 'score': 0.77}]
chr6 GH06I040906 40906382 40908022 0.89 [{'connected_gene': 'GC06P042413', 'score': 550.77}, {'connected_gene': 'TSPO2', 'score': 9.99}, {'connected_gene': 'UNC5CL', 'score': 9.99}, {'connected_gene': 'GC06M040834', 'score': 0.2}, {'connected_gene': 'LOC101929555', 'score': 0.13}]