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
ENST00000550916 [[75784849, 75785130], [75804213, 75804459], [75807377, 75807481], [75816683, 75816769], [75824494, 75824521], [75824603, 75826468]] [[75784896, 75785130], [75804213, 75804459], [75807377, 75807481], [75816683, 75816769], [75824494, 75824521], [75824603, 75824941]]
ENST00000378689 [[75784859, 75785130], [75796796, 75796883]] [[75784896, 75785130], [75796796, 75796883]]
ENST00000435775 [[75784859, 75785130], [75804213, 75804459], [75816683, 75816769], [75824494, 75824521], [75824603, 75825591]] [[75784896, 75785130], [75804213, 75804459], [75816683, 75816710]]
ENST00000378692 [[75784880, 75785130], [75796796, 75796926], [75804213, 75804459], [75807377, 75807481], [75816683, 75816769], [75824494, 75824521], [75824603, 75825663]] [[75804300, 75804459], [75807377, 75807481], [75816683, 75816769], [75824494, 75824521], [75824603, 75824941]]
ENST00000320460 [[75784888, 75785130], [75804213, 75804459], [75807377, 75807481], [75816683, 75817820]] [[75784896, 75785130], [75804213, 75804459], [75807377, 75807481], [75816683, 75816861]]
ENST00000547164 [[75784896, 75785130], [75804213, 75804459], [75816683, 75816712]] [[75784896, 75785130], [75804213, 75804459], [75816683, 75816710]]
ENST00000441218 [[75785309, 75785348], [75804213, 75804459], [75807377, 75807481], [75816683, 75816769], [75824494, 75824521], [75824603, 75825655]] [[75785309, 75785348], [75804213, 75804459], [75807377, 75807481], [75816683, 75816769], [75824494, 75824521], [75824603, 75824941]]
NM_152436 [[75784849, 75785130], [75804213, 75804459], [75807377, 75807481], [75816683, 75817820]] [[75784896, 75785130], [75804213, 75804459], [75807377, 75807481], [75816683, 75816861]]
NM_001270396 [[75784849, 75785130], [75804213, 75804459], [75807377, 75807481], [75816683, 75816769], [75824494, 75824521], [75824603, 75826177]] [[75784896, 75785130], [75804213, 75804459], [75807377, 75807481], [75816683, 75816769], [75824494, 75824521], [75824603, 75824941]]
NR_072995 [[75784849, 75785130], [75796796, 75796926], [75804213, 75804459], [75807377, 75807481], [75816683, 75816769], [75824494, 75824521], [75824603, 75826177]] None
Promoter
Chrom Start End Description
chr12 75784859 75784892 CAGE_peak_1_at_GLIPR1L2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I075329 75329521 75330930 2.06 [{'connected_gene': 'CAPS2', 'score': 561.17}, {'connected_gene': 'KRR1', 'score': 35.65}, {'connected_gene': 'LOC100652897', 'score': 18.29}, {'connected_gene': 'GLIPR1L2', 'score': 11.17}, {'connected_gene': 'ENSG00000273987', 'score': 0.77}, {'connected_gene': 'LOC100419702', 'score': 0.34}]
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 GH12I075629 75628661 75628810 0.74 [{'connected_gene': 'GLIPR1L2', 'score': 21.73}, {'connected_gene': 'ENSG00000251893', 'score': 10.38}, {'connected_gene': 'GC12P075601', 'score': 0.31}, {'connected_gene': 'RPL10P13', 'score': 0.21}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075627 75627532 75628533 0.31 [{'connected_gene': 'GLIPR1L2', 'score': 24.9}, {'connected_gene': 'ENSG00000251893', 'score': 10.38}, {'connected_gene': 'GC12P075601', 'score': 0.31}, {'connected_gene': 'RPL10P13', 'score': 0.21}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075270 75270241 75270390 0.2 [{'connected_gene': 'GLIPR1L2', 'score': 23.42}, {'connected_gene': 'KCNC2', 'score': 11.04}, {'connected_gene': 'CCNG2P1', 'score': 0.39}, {'connected_gene': 'LOC100130268', 'score': 0.28}, {'connected_gene': 'LOC100419702', 'score': 0.28}, {'connected_gene': 'CAPS2', 'score': 0.13}]
chr12 GH12I075341 75341604 75342710 0.43 [{'connected_gene': 'GLIPR1L2', 'score': 15.76}, {'connected_gene': 'GLIPR1L1', 'score': 0.44}, {'connected_gene': 'CAPS2', 'score': 0.25}]
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 GH12I075553 75553000 75554767 0.66 [{'connected_gene': 'GLIPR1L2', 'score': 29.5}, {'connected_gene': 'ENSG00000257497', 'score': 13.4}, {'connected_gene': 'PHLDA1', 'score': 10.32}, {'connected_gene': 'BBS10', 'score': 9.89}, {'connected_gene': 'GC12P075544', 'score': 0.44}, {'connected_gene': 'PGDP2', 'score': 0.25}]
chr12 GH12I075633 75632601 75632958 0.62 [{'connected_gene': 'GLIPR1L2', 'score': 26.5}, {'connected_gene': 'ENSG00000251893', 'score': 11.8}, {'connected_gene': 'PHLDA1', 'score': 10.63}, {'connected_gene': 'GC12P075601', 'score': 0.29}, {'connected_gene': 'RPL10P13', 'score': 0.22}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075634 75633648 75636862 1.34 [{'connected_gene': 'GLIPR1L2', 'score': 32.54}, {'connected_gene': 'ENSG00000251893', 'score': 11.81}, {'connected_gene': 'PHLDA1', 'score': 10.63}, {'connected_gene': 'GC12P075601', 'score': 0.28}, {'connected_gene': 'RPL10P13', 'score': 0.23}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075638 75638649 75643122 1.27 [{'connected_gene': 'GLIPR1L2', 'score': 33.67}, {'connected_gene': 'ENSG00000251893', 'score': 11.82}, {'connected_gene': 'PHLDA1', 'score': 10.63}, {'connected_gene': 'KRR1', 'score': 6.63}, {'connected_gene': 'GC12P075601', 'score': 0.26}, {'connected_gene': 'RPL10P13', 'score': 0.25}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
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 GH12I075584 75584524 75586218 0.52 [{'connected_gene': 'GLIPR1L2', 'score': 29.88}, {'connected_gene': 'ENSG00000257497', 'score': 11.45}, {'connected_gene': 'ENSG00000251893', 'score': 10.57}, {'connected_gene': 'PHLDA1', 'score': 10.32}, {'connected_gene': 'PGDP2', 'score': 0.39}, {'connected_gene': 'GC12P075544', 'score': 0.26}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075562 75562072 75562366 0.22 [{'connected_gene': 'GLIPR1L2', 'score': 29.99}, {'connected_gene': 'ENSG00000257497', 'score': 11.34}, {'connected_gene': 'PHLDA1', 'score': 10.42}, {'connected_gene': 'ENSG00000251893', 'score': 10.08}, {'connected_gene': 'GC12P075544', 'score': 0.37}, {'connected_gene': 'PGDP2', 'score': 0.28}]
chr12 GH12I075564 75564227 75565323 0.58 [{'connected_gene': 'GLIPR1L2', 'score': 30.29}, {'connected_gene': 'PHLDA1', 'score': 10.42}, {'connected_gene': 'ENSG00000251893', 'score': 10.08}, {'connected_gene': 'GC12P075544', 'score': 0.34}, {'connected_gene': 'PGDP2', 'score': 0.28}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075561 75561222 75561682 0.2 [{'connected_gene': 'GLIPR1L2', 'score': 29.86}, {'connected_gene': 'PHLDA1', 'score': 10.42}, {'connected_gene': 'ENSG00000251893', 'score': 10.08}, {'connected_gene': 'GC12P075544', 'score': 0.37}, {'connected_gene': 'PGDP2', 'score': 0.28}]
chr12 GH12I075628 75628948 75629780 0.91 [{'connected_gene': 'GLIPR1L2', 'score': 25.72}, {'connected_gene': 'ENSG00000251893', 'score': 10.39}, {'connected_gene': 'KRR1', 'score': 6.99}, {'connected_gene': 'GC12P075601', 'score': 0.31}, {'connected_gene': 'RPL10P13', 'score': 0.22}, {'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 GH12I075558 75558401 75558550 0.76 [{'connected_gene': 'GLIPR1L2', 'score': 29.38}, {'connected_gene': 'KRR1', 'score': 23.65}, {'connected_gene': 'GC12P075544', 'score': 0.39}, {'connected_gene': 'PGDP2', 'score': 0.26}]
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 GH12I075601 75601271 75603293 0.38 [{'connected_gene': 'GLIPR1L2', 'score': 28.95}, {'connected_gene': 'PGDP2', 'score': 0.77}, {'connected_gene': 'GC12P075601', 'score': 0.77}, {'connected_gene': 'RPL10P13', 'score': 0.17}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075571 75571421 75571570 0.43 [{'connected_gene': 'GLIPR1L2', 'score': 28.15}, {'connected_gene': 'PGDP2', 'score': 0.31}, {'connected_gene': 'GC12P075544', 'score': 0.31}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
chr12 GH12I075550 75549615 75551744 0.58 [{'connected_gene': 'GLIPR1L2', 'score': 29.24}, {'connected_gene': 'ENSG00000257497', 'score': 9.82}, {'connected_gene': 'GC12P075544', 'score': 0.44}, {'connected_gene': 'PGDP2', 'score': 0.25}]
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 GH12I075572 75571584 75572188 0.2 [{'connected_gene': 'KRR1', 'score': 23.28}, {'connected_gene': 'GLIPR1L2', 'score': 10.05}, {'connected_gene': 'PGDP2', 'score': 0.31}, {'connected_gene': 'GC12P075544', 'score': 0.31}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
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 GH12I075526 75526601 75529885 0.96 [{'connected_gene': 'LOC105369845', 'score': 550.77}, {'connected_gene': 'GLIPR1L2', 'score': 29.99}, {'connected_gene': 'PHLDA1', 'score': 12.12}, {'connected_gene': 'ENSG00000257497', 'score': 11.24}, {'connected_gene': 'ENSG00000251893', 'score': 10.37}, {'connected_gene': 'GC12P075544', 'score': 0.37}]
chr12 GH12I075333 75333941 75335367 1.85 [{'connected_gene': 'ENSG00000273987', 'score': 550.77}, {'connected_gene': 'GLIPR1L1', 'score': 550.77}, {'connected_gene': 'GLIPR1L2', 'score': 44.28}, {'connected_gene': 'CAPS2', 'score': 0.22}]
chr12 GH12I075758 75758924 75761415 0.97 [{'connected_gene': 'ENSG00000251893', 'score': 11.08}, {'connected_gene': 'PHLDA1', 'score': 7.34}, {'connected_gene': 'GLIPR1L2', 'score': 4.67}, {'connected_gene': 'LOC105369846', 'score': 0.34}, {'connected_gene': 'ENSG00000258088', 'score': 0.21}, {'connected_gene': 'ENSG00000258077', 'score': 0.07}]
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}]
chr12 GH12I075586 75586341 75588399 0.2 [{'connected_gene': 'ENSG00000251893', 'score': 10.3}, {'connected_gene': 'ENSG00000257497', 'score': 9.1}, {'connected_gene': 'GLIPR1L2', 'score': 8.63}, {'connected_gene': 'PGDP2', 'score': 0.39}, {'connected_gene': 'GC12P075544', 'score': 0.26}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]