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
ENST00000266659 [[75874459, 75874834], [75875613, 75875859], [75884185, 75884298], [75889356, 75889442], [75892473, 75892500], [75892603, 75897633]] [[75874660, 75874834], [75875613, 75875859], [75884185, 75884298], [75889356, 75889442], [75892473, 75892500], [75892603, 75892758]]
ENST00000536703 [[75874532, 75874834], [75875613, 75875859], [75889356, 75889442], [75892473, 75893073]] [[75874660, 75874834], [75875613, 75875859], [75889356, 75889383]]
ENST00000456650 [[75874660, 75874834], [75875613, 75875859], [75881518, 75881589], [75884185, 75884298], [75889356, 75889442], [75892473, 75892497]] [[75874660, 75874834], [75875613, 75875859], [75881518, 75881589], [75884185, 75884298], [75889356, 75889442], [75892473, 75892497]]
ENST00000550491 [[75874983, 75875205], [75875613, 75875859], [75884185, 75884298], [75889356, 75889442]] [[75875791, 75875859], [75884185, 75884298], [75889356, 75889442]]
NM_006851 [[75874512, 75874834], [75875613, 75875859], [75884185, 75884298], [75889356, 75889442], [75892473, 75892500], [75892603, 75895716]] [[75874660, 75874834], [75875613, 75875859], [75884185, 75884298], [75889356, 75889442], [75892473, 75892500], [75892603, 75892758]]
Promoter
Chrom Start End Description
chr12 75874525 75874549 CAGE_peak_1_at_GLIPR1_5end
chr12 75874561 75874574 CAGE_peak_3_at_GLIPR1_5end
chr12 75874580 75874611 CAGE_peak_2_at_GLIPR1_5end
chr12 75875040 75875053 CAGE_peak_6_at_GLIPR1_5end
chr12 75875067 75875110 CAGE_peak_4_at_GLIPR1_5end
chr12 75875150 75875165 CAGE_peak_5_at_GLIPR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I075950 75950510 75956090 1.56 [{'connected_gene': 'PHLDA1', 'score': 13.19}, {'connected_gene': 'GLIPR1', 'score': 2.64}, {'connected_gene': 'RN7SL734P', 'score': 0.77}, {'connected_gene': 'ENSG00000258091', 'score': 0.31}, {'connected_gene': 'ENSG00000258077', 'score': 0.29}]
chr12 GH12I075943 75943527 75946513 1.71 [{'connected_gene': 'PHLDA1', 'score': 14.79}, {'connected_gene': 'GLIPR1', 'score': 4.71}, {'connected_gene': 'RN7SL734P', 'score': 0.39}, {'connected_gene': 'ENSG00000258091', 'score': 0.37}, {'connected_gene': 'ENSG00000258077', 'score': 0.28}]
chr12 GH12I075811 75811839 75813396 1.27 [{'connected_gene': 'PHLDA1', 'score': 4.5}, {'connected_gene': 'GLIPR1', 'score': 1.41}, {'connected_gene': 'LOC105369846', 'score': 0.29}, {'connected_gene': 'ENSG00000258091', 'score': 0.14}, {'connected_gene': 'ENSG00000258077', 'score': 0.09}]
chr12 GH12I075789 75789764 75791478 0.71 [{'connected_gene': 'PHLDA1', 'score': 9.82}, {'connected_gene': 'GLIPR1', 'score': 3.33}, {'connected_gene': 'LOC105369846', 'score': 0.44}, {'connected_gene': 'ENSG00000258091', 'score': 0.12}, {'connected_gene': 'ENSG00000258077', 'score': 0.08}]
chr12 GH12I075969 75969214 75970614 1.3 [{'connected_gene': 'PHLDA1', 'score': 12.93}, {'connected_gene': 'ENSG00000251893', 'score': 9.68}, {'connected_gene': 'GLIPR1', 'score': 4.78}, {'connected_gene': 'LOC100289143', 'score': 0.44}, {'connected_gene': 'ENSG00000258077', 'score': 0.39}]
chr12 GH12I075456 75456761 75458338 0.94 [{'connected_gene': 'GLIPR1L2', 'score': 62.94}, {'connected_gene': 'CAPS2', 'score': 14.23}, {'connected_gene': 'BBS10', 'score': 13.6}, {'connected_gene': 'GLIPR1', 'score': 12.17}, {'connected_gene': 'KRR1', 'score': 10.65}]
chr12 GH12I075388 75388512 75392449 2 [{'connected_gene': 'GLIPR1L2', 'score': 629.73}, {'connected_gene': 'CAPS2', 'score': 550.77}, {'connected_gene': 'KRR1', 'score': 17.65}, {'connected_gene': 'GLIPR1', 'score': 11.27}, {'connected_gene': 'GLIPR1L1', 'score': 0.22}]
chr12 GH12I075505 75505619 75506510 0.74 [{'connected_gene': 'GLIPR1L2', 'score': 63.56}, {'connected_gene': 'GLIPR1L1', 'score': 11.89}, {'connected_gene': 'GLIPR1', 'score': 11.23}, {'connected_gene': 'CAPS2', 'score': 10.96}, {'connected_gene': 'PHLDA1', 'score': 10.28}, {'connected_gene': 'KCNC2', 'score': 8.78}, {'connected_gene': 'KRR1', 'score': 0.44}, {'connected_gene': 'ENSG00000257497', 'score': 0.37}]
chr12 GH12I075578 75578099 75582913 0.8 [{'connected_gene': 'GLIPR1L2', 'score': 29.18}, {'connected_gene': 'ENSG00000251893', 'score': 10.93}, {'connected_gene': 'PHLDA1', 'score': 9.73}, {'connected_gene': 'KRR1', 'score': 8.5}, {'connected_gene': 'GLIPR1', 'score': 4.98}, {'connected_gene': 'PGDP2', 'score': 0.37}, {'connected_gene': 'GC12P075544', 'score': 0.28}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075496 75496659 75497951 0.2 [{'connected_gene': 'GLIPR1L2', 'score': 73.01}, {'connected_gene': 'KRR1', 'score': 34.87}, {'connected_gene': 'GLIPR1L1', 'score': 11.92}, {'connected_gene': 'ENSG00000257497', 'score': 11.89}, {'connected_gene': 'CAPS2', 'score': 11.33}, {'connected_gene': 'PHLDA1', 'score': 10.08}, {'connected_gene': 'GLIPR1', 'score': 0.37}]
chr12 GH12I075485 75485594 75488196 0.43 [{'connected_gene': 'GLIPR1L2', 'score': 69.89}, {'connected_gene': 'KRR1', 'score': 18.55}, {'connected_gene': 'ENSG00000257497', 'score': 16.78}, {'connected_gene': 'GLIPR1L1', 'score': 12.23}, {'connected_gene': 'CAPS2', 'score': 11.45}, {'connected_gene': 'GLIPR1', 'score': 0.44}]
chr12 GH12I075622 75622658 75624898 1.33 [{'connected_gene': 'GLIPR1L2', 'score': 27.8}, {'connected_gene': 'KRR1', 'score': 22.12}, {'connected_gene': 'ENSG00000251893', 'score': 10.37}, {'connected_gene': 'ENSG00000257497', 'score': 7.12}, {'connected_gene': 'GLIPR1', 'score': 4.68}, {'connected_gene': 'GC12P075601', 'score': 0.34}, {'connected_gene': 'RPL10P13', 'score': 0.2}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075476 75476175 75476375 0.57 [{'connected_gene': 'GLIPR1L2', 'score': 62.95}, {'connected_gene': 'GLIPR1', 'score': 4.66}]
chr12 GH12I075471 75471416 75473017 0.78 [{'connected_gene': 'GLIPR1L2', 'score': 62.26}, {'connected_gene': 'GLIPR1', 'score': 0.44}]
chr12 GH12I075444 75444336 75445361 1.14 [{'connected_gene': 'GLIPR1L2', 'score': 60.33}, {'connected_gene': 'GLIPR1', 'score': 0.28}]
chr12 GH12I075492 75492146 75495963 0.2 [{'connected_gene': 'KRR1', 'score': 35.82}, {'connected_gene': 'ENSG00000257497', 'score': 24.03}, {'connected_gene': 'GLIPR1L1', 'score': 11.58}, {'connected_gene': 'CAPS2', 'score': 11.15}, {'connected_gene': 'GLIPR1L2', 'score': 11.15}, {'connected_gene': 'GLIPR1', 'score': 0.39}]
chr12 GH12I075507 75507127 75507635 0.66 [{'connected_gene': 'KRR1', 'score': 37.88}, {'connected_gene': 'GLIPR1L1', 'score': 11.89}, {'connected_gene': 'GLIPR1', 'score': 11.23}, {'connected_gene': 'CAPS2', 'score': 10.96}, {'connected_gene': 'GLIPR1L2', 'score': 10.96}, {'connected_gene': 'PHLDA1', 'score': 10.28}, {'connected_gene': 'KCNC2', 'score': 8.78}, {'connected_gene': 'ENSG00000257497', 'score': 0.37}]
chr12 GH12I075508 75508283 75513161 2.54 [{'connected_gene': 'KRR1', 'score': 622.93}, {'connected_gene': 'ENSG00000257497', 'score': 23.36}, {'connected_gene': 'GLIPR1L2', 'score': 16.04}, {'connected_gene': 'GLIPR1L1', 'score': 11.89}, {'connected_gene': 'GLIPR1', 'score': 11.21}, {'connected_gene': 'CAPS2', 'score': 10.96}, {'connected_gene': 'PHLDA1', 'score': 10.28}, {'connected_gene': 'KCNC2', 'score': 8.78}]
chr12 GH12I075501 75501700 75503665 0.2 [{'connected_gene': 'KRR1', 'score': 37.99}, {'connected_gene': 'GLIPR1L2', 'score': 27.51}, {'connected_gene': 'ENSG00000257497', 'score': 23.64}, {'connected_gene': 'GLIPR1L1', 'score': 11.93}, {'connected_gene': 'GLIPR1', 'score': 11.55}, {'connected_gene': 'CAPS2', 'score': 11.49}, {'connected_gene': 'PHLDA1', 'score': 10.08}]
chr12 GH12I075493 75492037 75492106 0.42 [{'connected_gene': 'KRR1', 'score': 1.64}, {'connected_gene': 'ENSG00000257497', 'score': 0.77}, {'connected_gene': 'GLIPR1', 'score': 0.39}]
chr12 GH12I075792 75792926 75793054 0.54 [{'connected_gene': 'GLIPR1', 'score': 1.69}, {'connected_gene': 'PHLDA1', 'score': 1.4}, {'connected_gene': 'LOC105369846', 'score': 0.39}, {'connected_gene': 'ENSG00000258091', 'score': 0.12}, {'connected_gene': 'ENSG00000258077', 'score': 0.08}]
chr12 GH12I075477 75477993 75485530 2.32 [{'connected_gene': 'GLIPR1', 'score': 555.76}, {'connected_gene': 'GLIPR1L2', 'score': 73.48}, {'connected_gene': 'KRR1', 'score': 34.25}, {'connected_gene': 'GLIPR1L1', 'score': 11.77}, {'connected_gene': 'CAPS2', 'score': 11.46}, {'connected_gene': 'ENSG00000257497', 'score': 10.17}]
chr12 GH12I075448 75447041 75447210 0.49 [{'connected_gene': 'GLIPR1', 'score': 12.27}, {'connected_gene': 'GLIPR1L2', 'score': 0.22}]
chr12 GH12I075447 75447821 75447970 0.2 [{'connected_gene': 'GLIPR1', 'score': 12.27}, {'connected_gene': 'GLIPR1L2', 'score': 0.22}]
chr12 GH12I075437 75437701 75437850 0.58 [{'connected_gene': 'GLIPR1', 'score': 0.26}, {'connected_gene': 'GLIPR1L2', 'score': 0.25}]
chr12 GH12I075974 75974009 75984226 1.77 [{'connected_gene': 'ENSG00000258077', 'score': 18.59}, {'connected_gene': 'PHLDA1', 'score': 14.75}, {'connected_gene': 'NAP1L1', 'score': 10.37}, {'connected_gene': 'ENSG00000251893', 'score': 9.68}, {'connected_gene': 'GLIPR1', 'score': 4.99}, {'connected_gene': 'LOC100289143', 'score': 0.39}]
chr12 GH12I075488 75488632 75490641 1 [{'connected_gene': 'ENSG00000257497', 'score': 550.77}, {'connected_gene': 'GLIPR1L2', 'score': 61.53}, {'connected_gene': 'KRR1', 'score': 23.25}, {'connected_gene': 'GLIPR1', 'score': 0.44}]