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
ENST00000229214 [[75890683, 75893731], [75895502, 75895596], [75895702, 75895780], [75897683, 75897854], [75898977, 75899034], [75900095, 75900179], [75900263, 75900389], [75900561, 75900696], [75902053, 75902226], [75905292, 75905401]] [[75893588, 75893731], [75895502, 75895596], [75895702, 75895780], [75897683, 75897854], [75898977, 75899034], [75900095, 75900179], [75900263, 75900389], [75900561, 75900696], [75902053, 75902226], [75905292, 75905377]]
ENST00000438169 [[75893588, 75893731], [75895502, 75895596], [75895702, 75895780], [75898977, 75899034], [75900095, 75900179], [75900263, 75900389], [75900561, 75900696], [75902053, 75902226], [75905292, 75905377]] [[75893588, 75893731], [75895502, 75895596], [75895702, 75895780], [75898977, 75899034], [75900095, 75900179], [75900263, 75900389], [75900561, 75900696], [75902053, 75902226], [75905292, 75905377]]
ENST00000551070 [[75893609, 75893731], [75895502, 75895596], [75895702, 75895780], [75897683, 75898062]] None
ENST00000550023 [[75899943, 75900389], [75900561, 75900696], [75902053, 75902226], [75905292, 75905393]] None
ENST00000550898 [[75900299, 75900696], [75902053, 75902226], [75905292, 75905416]] None
NM_007043 [[75891418, 75893731], [75895502, 75895596], [75895702, 75895780], [75897683, 75897854], [75898977, 75899034], [75900095, 75900179], [75900263, 75900389], [75900561, 75900696], [75902053, 75902226], [75905292, 75905418]] [[75893588, 75893731], [75895502, 75895596], [75895702, 75895780], [75897683, 75897854], [75898977, 75899034], [75900095, 75900179], [75900263, 75900389], [75900561, 75900696], [75902053, 75902226], [75905292, 75905377]]
Promoter
Chrom Start End Description
chr12 75905374 75905420 CAGE_peak_1_at_KRR1_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 GH12I076346 76346519 76349300 2.05 [{'connected_gene': 'BBS10', 'score': 556.6}, {'connected_gene': 'KRR1', 'score': 16.32}, {'connected_gene': 'RN7SKP172', 'score': 0.29}]
chr12 GH12I076124 76124401 76124600 0.57 [{'connected_gene': 'NAP1L1', 'score': 11.87}, {'connected_gene': 'KRR1', 'score': 11.09}, {'connected_gene': 'ENSG00000257497', 'score': 10.03}, {'connected_gene': 'ENSG00000258304', 'score': 0.44}, {'connected_gene': 'LOC641695', '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 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 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 GH12I075683 75683273 75685946 1.03 [{'connected_gene': 'KRR1', 'score': 18.34}, {'connected_gene': 'RPL21P98', 'score': 10.24}, {'connected_gene': 'RPL10P13', 'score': 0.77}, {'connected_gene': 'LOC105369844', 'score': 0.39}, {'connected_gene': 'GC12P075601', 'score': 0.18}, {'connected_gene': 'ENSG00000258077', 'score': 0.06}]
chr12 GH12I076302 76302346 76304739 0.92 [{'connected_gene': 'KRR1', 'score': 18.27}, {'connected_gene': 'RPL21P98', 'score': 10.27}, {'connected_gene': 'LINC02407', 'score': 5.9}, {'connected_gene': 'CSRP2', 'score': 5.03}, {'connected_gene': 'GC12M076305', 'score': 0.77}]
chr12 GH12I075670 75670117 75670797 0.2 [{'connected_gene': 'KRR1', 'score': 5.73}, {'connected_gene': 'RPL10P13', 'score': 0.37}, {'connected_gene': 'LOC105369844', 'score': 0.34}, {'connected_gene': 'GC12P075601', 'score': 0.19}, {'connected_gene': 'ENSG00000258077', 'score': 0.06}]
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 GH12I075655 75655392 75662629 1.43 [{'connected_gene': 'KRR1', 'score': 13.66}, {'connected_gene': 'ENSG00000251893', 'score': 11.41}, {'connected_gene': 'ENSG00000257497', 'score': 4.77}, {'connected_gene': 'PHLDA1', 'score': 3.47}, {'connected_gene': 'RPL10P13', 'score': 0.29}, {'connected_gene': 'GC12P075601', 'score': 0.22}, {'connected_gene': 'ENSG00000258077', 'score': 0.05}]
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 GH12I075493 75492037 75492106 0.42 [{'connected_gene': 'KRR1', 'score': 1.64}, {'connected_gene': 'ENSG00000257497', 'score': 0.77}, {'connected_gene': 'GLIPR1', 'score': 0.39}]
chr12 GH12I076199 76199921 76200070 0.66 [{'connected_gene': 'KRR1', 'score': 10.45}, {'connected_gene': 'LINC02407', 'score': 0.22}, {'connected_gene': 'GC12P076140', 'score': 0.21}]
chr12 GH12I075763 75763653 75768671 1.1 [{'connected_gene': 'KRR1', 'score': 13.62}, {'connected_gene': 'ENSG00000251893', 'score': 10.66}, {'connected_gene': 'LOC105369846', 'score': 0.39}, {'connected_gene': 'ENSG00000258088', 'score': 0.2}, {'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 GH12I075696 75696041 75696190 0.4 [{'connected_gene': 'LOC105369844', 'score': 550.77}, {'connected_gene': 'KRR1', 'score': 5.25}, {'connected_gene': 'ENSG00000258088', 'score': 0.77}, {'connected_gene': 'ENSG00000258077', 'score': 0.06}]
chr12 GH12I076144 76144201 76144400 0.78 [{'connected_gene': 'LOC100652897', 'score': 26.02}, {'connected_gene': 'KRR1', 'score': 16.53}, {'connected_gene': 'GLIPR1L1', 'score': 14.16}, {'connected_gene': 'CAPS2', 'score': 12.37}, {'connected_gene': 'ZDHHC17', 'score': 11.88}, {'connected_gene': 'BBS10', 'score': 11.21}, {'connected_gene': 'RPL21P98', 'score': 10.26}, {'connected_gene': 'GC12P076140', 'score': 0.77}, {'connected_gene': 'LINC02407', 'score': 0.13}]
chr12 GH12I075803 75803748 75804117 0.24 [{'connected_gene': 'ENSG00000251893', 'score': 10.17}, {'connected_gene': 'PHLDA1', 'score': 5.37}, {'connected_gene': 'KRR1', 'score': 1.49}, {'connected_gene': 'LOC105369846', 'score': 0.34}, {'connected_gene': 'ENSG00000258091', 'score': 0.13}, {'connected_gene': 'ENSG00000258077', 'score': 0.09}]
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 GH12I075704 75704028 75717086 1.39 [{'connected_gene': 'ENSG00000251893', 'score': 12.23}, {'connected_gene': 'KRR1', 'score': 5.07}, {'connected_gene': 'ENSG00000258088', 'score': 0.39}, {'connected_gene': 'LOC105369846', 'score': 0.19}, {'connected_gene': 'ENSG00000258077', 'score': 0.06}]
chr12 GH12I075559 75559696 75560970 0.63 [{'connected_gene': 'ENSG00000257497', 'score': 11.26}, {'connected_gene': 'KRR1', 'score': 5.62}, {'connected_gene': 'GC12P075544', 'score': 0.37}, {'connected_gene': 'PGDP2', 'score': 0.28}]