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
ENST00000373127 [[41117079, 41117656], [41118556, 41118645], [41119019, 41119122], [41121495, 41121828], [41121983, 41122075]] [[41117624, 41117656], [41118556, 41118645], [41119019, 41119122], [41121495, 41121828], [41121983, 41122026]]
ENST00000426005 [[41117340, 41117656], [41117998, 41118051], [41118556, 41118645], [41119019, 41119122], [41121495, 41121828], [41121983, 41122070]] [[41117341, 41117656], [41117998, 41118051], [41118556, 41118645], [41119019, 41119122], [41121495, 41121828], [41121983, 41122026]]
ENST00000437044 [[41117341, 41117656], [41117998, 41118051], [41118556, 41118645], [41119019, 41119122], [41121983, 41122070]] [[41117341, 41117656], [41117998, 41118051], [41118556, 41118645], [41119019, 41119122], [41121983, 41122026]]
ENST00000590581 [[41117541, 41117656], [41117998, 41118051], [41118556, 41118645], [41119019, 41119358]] None
NM_178174 [[41116997, 41117656], [41117998, 41118051], [41118556, 41118645], [41119019, 41119122], [41121495, 41121828], [41121983, 41122087]] [[41117341, 41117656], [41117998, 41118051], [41118556, 41118645], [41119019, 41119122], [41121495, 41121828], [41121983, 41122026]]
NM_001271807 [[41116997, 41117656], [41118556, 41118645], [41119019, 41119122], [41121495, 41121828], [41121983, 41122087]] [[41117624, 41117656], [41118556, 41118645], [41119019, 41119122], [41121495, 41121828], [41121983, 41122026]]
NM_001271808 [[41116997, 41117656], [41117998, 41118051], [41118556, 41118645], [41119019, 41119122], [41121983, 41122087]] [[41117341, 41117656], [41117998, 41118051], [41118556, 41118645], [41119019, 41119122], [41121983, 41122026]]
Promoter
Chrom Start End Description
chr6 41122033 41122057 CAGE_peak_2_at_TREML1_5end
chr6 41122063 41122094 CAGE_peak_1_at_TREML1_5end
chr6 41122096 41122107 CAGE_peak_3_at_TREML1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I041198 41198315 41204545 1.82 [{'connected_gene': 'TREML2', 'score': 550.77}, {'connected_gene': 'TREML4', 'score': 42.38}, {'connected_gene': 'TREML3P', 'score': 20.13}, {'connected_gene': 'TREM2', 'score': 11.58}, {'connected_gene': 'USP49', 'score': 11.29}, {'connected_gene': 'ADCY10P1', 'score': 10.9}, {'connected_gene': 'NFYA', 'score': 10.5}, {'connected_gene': 'TREML5P', 'score': 8.17}, {'connected_gene': 'TREML1', 'score': 5.43}, {'connected_gene': 'ENSG00000218809', 'score': 5.04}]
chr6 GH06I041181 41181802 41183462 1.34 [{'connected_gene': 'TREM1', 'score': 40.57}, {'connected_gene': 'ADCY10P1', 'score': 11.25}, {'connected_gene': 'TREML1', 'score': 10.86}, {'connected_gene': 'TREML4', 'score': 9.26}, {'connected_gene': 'NFYA', 'score': 8.48}, {'connected_gene': 'TREML2', 'score': 4.7}, {'connected_gene': 'TREM2', 'score': 0.37}]
chr6 GH06I041185 41185201 41186796 1.03 [{'connected_gene': 'TREM1', 'score': 24.84}, {'connected_gene': 'ADCY10P1', 'score': 11.29}, {'connected_gene': 'TREML1', 'score': 10.84}, {'connected_gene': 'TREML4', 'score': 5.72}, {'connected_gene': 'NFYA', 'score': 2.17}, {'connected_gene': 'TREML2', 'score': 0.37}, {'connected_gene': 'TREM2', 'score': 0.34}]
chr6 GH06I041161 41161401 41162800 0.31 [{'connected_gene': 'TREM2', 'score': 550.77}, {'connected_gene': 'TREML1', 'score': 0.44}, {'connected_gene': 'LOC105375056', 'score': 0.34}]
chr6 GH06I041154 41154324 41154383 0.5 [{'connected_gene': 'TREML1', 'score': 550.77}, {'connected_gene': 'TREM2', 'score': 0.44}, {'connected_gene': 'LOC105375056', 'score': 0.39}]
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 GH06I041271 41271001 41273316 1.27 [{'connected_gene': 'ENSG00000218809', 'score': 550.77}, {'connected_gene': 'TREM1', 'score': 41.56}, {'connected_gene': 'TREML4', 'score': 25.99}, {'connected_gene': 'NFYA', 'score': 9.7}, {'connected_gene': 'TREML3P', 'score': 9.27}, {'connected_gene': 'TFEB', 'score': 6.27}, {'connected_gene': 'TREML2', 'score': 6.09}, {'connected_gene': 'TREML1', 'score': 1.38}, {'connected_gene': 'GC06M041280', 'score': 0.44}]