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
ENST00000505319 [[124317949, 124318087], [124318765, 124319011], [124322691, 124322948]] [[124322746, 124322948]]
ENST00000339241 [[124317955, 124318087], [124322691, 124324907]] [[124322746, 124323706]]
ENST00000515726 [[124317965, 124318087], [124318765, 124319492]] None
ENST00000507703 [[124319339, 124319668], [124322691, 124323374]] [[124322746, 124323374]]
ENST00000394339 [[124320664, 124320949], [124322691, 124324910]] [[124322746, 124323706]]
ENST00000508849 [[124321122, 124321535], [124322691, 124322851]] [[124322746, 124322851]]
NM_199327 [[124317949, 124318087], [124322691, 124324915]] [[124322746, 124323706]]
NM_001258038 [[124317949, 124318087], [124318765, 124319011], [124322691, 124324915]] [[124322746, 124323706]]
NM_001258039 [[124319540, 124319668], [124322691, 124324915]] [[124322746, 124323706]]
NM_005841 [[124320644, 124320949], [124322691, 124324915]] [[124322746, 124323706]]
Promoter
Chrom Start End Description
chr4 124317940 124317987 CAGE_peak_1_at_SPRY1_5end
chr4 124318002 124318013 CAGE_peak_2_at_SPRY1_5end
chr4 124319011 124319058 CAGE_peak_4_at_SPRY1_5end
chr4 124320682 124320702 CAGE_peak_5_at_SPRY1_5end
chr4 124323702 124323741 CAGE_peak_12_at_SPRY1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I123782 123782620 123788783 0.93 [{'connected_gene': 'LINC01091', 'score': 8.16}, {'connected_gene': 'SPRY1', 'score': 2.34}, {'connected_gene': 'RPL21P50', 'score': 0.28}, {'connected_gene': 'ENSG00000250458', 'score': 0.18}]
chr4 GH04I123647 123647867 123653978 1.3 [{'connected_gene': 'LINC01091', 'score': 555.32}, {'connected_gene': 'SPRY1', 'score': 11.2}, {'connected_gene': 'ENSG00000226655', 'score': 0.16}]
chr4 GH04I122781 122781621 122785849 1.44 [{'connected_gene': 'FGF2', 'score': 12.65}, {'connected_gene': 'SPATA5', 'score': 10.47}, {'connected_gene': 'NUDT6', 'score': 10.47}, {'connected_gene': 'CETN4P', 'score': 9.43}, {'connected_gene': 'SPRY1', 'score': 4.5}, {'connected_gene': 'RPL34P12', 'score': 0.29}, {'connected_gene': 'LOC727709', 'score': 0.26}]
chr4 GH04I122795 122795894 122800409 1.53 [{'connected_gene': 'FGF2', 'score': 17.12}, {'connected_gene': 'NUDT6', 'score': 9.94}, {'connected_gene': 'SPATA5', 'score': 9.94}, {'connected_gene': 'IL21-AS1', 'score': 9.3}, {'connected_gene': 'CETN4P', 'score': 9.14}, {'connected_gene': 'SPRY1', 'score': 4.49}, {'connected_gene': 'RPL34P12', 'score': 0.37}, {'connected_gene': 'LOC727709', 'score': 0.22}]
chr4 GH04I122771 122771714 122773206 1.05 [{'connected_gene': 'FGF2', 'score': 10.69}, {'connected_gene': 'SPRY1', 'score': 4.5}, {'connected_gene': 'LOC727709', 'score': 0.29}, {'connected_gene': 'RPL34P12', 'score': 0.26}]
chr4 GH04I123348 123348735 123351112 1.21 [{'connected_gene': 'SPATA5', 'score': 24.71}, {'connected_gene': 'NUDT6', 'score': 7.66}, {'connected_gene': 'LINC01091', 'score': 4.21}, {'connected_gene': 'LOC105377404', 'score': 0.34}, {'connected_gene': 'SPRY1', 'score': 0.25}, {'connected_gene': 'GC04P123213', 'score': 0.12}]
chr4 GH04I123776 123776435 123778709 0.85 [{'connected_gene': 'SPATA5', 'score': 11.18}, {'connected_gene': 'SPRY1', 'score': 9.97}, {'connected_gene': 'LINC01091', 'score': 7.75}, {'connected_gene': 'RPL21P50', 'score': 0.29}, {'connected_gene': 'ENSG00000250458', 'score': 0.18}]
chr4 GH04I123392 123392471 123395113 0.31 [{'connected_gene': 'SPATA5', 'score': 14.3}, {'connected_gene': 'SPRY1', 'score': 5.13}, {'connected_gene': 'FGF2', 'score': 4.54}, {'connected_gene': 'LOC105377404', 'score': 0.2}, {'connected_gene': 'GC04P123213', 'score': 0.09}]
chr4 GH04I123346 123346570 123347498 0.31 [{'connected_gene': 'NUDT6', 'score': 8.26}, {'connected_gene': 'LOC105377404', 'score': 0.34}, {'connected_gene': 'SPRY1', 'score': 0.25}, {'connected_gene': 'GC04P123213', 'score': 0.12}]
chr4 GH04I123342 123342251 123344814 0.59 [{'connected_gene': 'NUDT6', 'score': 8.4}, {'connected_gene': 'LOC105377404', 'score': 0.37}, {'connected_gene': 'SPRY1', 'score': 0.23}, {'connected_gene': 'GC04P123213', 'score': 0.13}]
chr4 GH04I123504 123504066 123507273 1.64 [{'connected_gene': 'LINC02435', 'score': 555.68}, {'connected_gene': 'PIR51287', 'score': 550.77}, {'connected_gene': 'SPRY1', 'score': 12.54}, {'connected_gene': 'ENSG00000249125', 'score': 7.23}, {'connected_gene': 'LINC01091', 'score': 6.33}]
chr4 GH04I123341 123341540 123341690 0.2 [{'connected_gene': 'LOC105377404', 'score': 0.37}, {'connected_gene': 'SPRY1', 'score': 0.22}, {'connected_gene': 'GC04P123213', 'score': 0.13}]
chr4 GH04I123351 123351803 123353359 0.95 [{'connected_gene': 'LOC105377404', 'score': 0.31}, {'connected_gene': 'SPRY1', 'score': 0.26}, {'connected_gene': 'GC04P123213', 'score': 0.12}]
chr4 GH04I123339 123339623 123341135 0.92 [{'connected_gene': 'LOC105377404', 'score': 0.39}, {'connected_gene': 'SPRY1', 'score': 0.22}, {'connected_gene': 'GC04P123213', 'score': 0.13}]
chr4 GH04I123621 123621200 123621839 0.4 [{'connected_gene': 'SPRY1', 'score': 11.37}, {'connected_gene': 'LINC01091', 'score': 0.31}, {'connected_gene': 'LOC105377405', 'score': 0.18}]
chr4 GH04I123615 123615695 123618908 1.08 [{'connected_gene': 'SPRY1', 'score': 10.82}, {'connected_gene': 'LINC01091', 'score': 0.29}, {'connected_gene': 'LOC105377405', 'score': 0.19}]
chr4 GH04I123658 123658594 123661313 0.83 [{'connected_gene': 'SPRY1', 'score': 11.81}, {'connected_gene': 'LINC01091', 'score': 0.44}, {'connected_gene': 'ENSG00000226655', 'score': 0.17}]
chr4 GH04I123396 123396126 123410689 2.46 [{'connected_gene': 'SPRY1', 'score': 554.88}, {'connected_gene': 'FGF2', 'score': 4.54}, {'connected_gene': 'ENSG00000249125', 'score': 0.17}, {'connected_gene': 'GC04P123213', 'score': 0.09}]
chr4 GH04I123359 123359907 123362612 0.85 [{'connected_gene': 'SPRY1', 'score': 11.37}, {'connected_gene': 'NUDT6', 'score': 5.74}, {'connected_gene': 'LOC105377404', 'score': 0.29}, {'connected_gene': 'GC04P123213', 'score': 0.11}]
chr4 GH04I123477 123477024 123480986 1.46 [{'connected_gene': 'SPRY1', 'score': 12.13}, {'connected_gene': 'ENSG00000249125', 'score': 9.12}, {'connected_gene': 'LINC02435', 'score': 6.77}]
chr4 GH04I123586 123586804 123589856 1.14 [{'connected_gene': 'SPRY1', 'score': 10.96}, {'connected_gene': 'LOC105377405', 'score': 0.26}, {'connected_gene': 'LINC01091', 'score': 0.21}]
chr4 GH04I123564 123564589 123565470 1.36 [{'connected_gene': 'SPRY1', 'score': 12.25}, {'connected_gene': 'LOC105377405', 'score': 0.37}, {'connected_gene': 'LINC01091', 'score': 0.17}]
chr4 GH04I123552 123552494 123558100 1.38 [{'connected_gene': 'SPRY1', 'score': 12.31}, {'connected_gene': 'ENSG00000249125', 'score': 5.76}, {'connected_gene': 'LOC105377405', 'score': 0.44}, {'connected_gene': 'LINC01091', 'score': 0.16}]
chr4 GH04I123390 123390986 123391095 0.52 [{'connected_gene': 'SPRY1', 'score': 0.44}, {'connected_gene': 'LOC105377404', 'score': 0.21}, {'connected_gene': 'GC04P123213', 'score': 0.1}]
chr4 GH04I123386 123386646 123386795 0.58 [{'connected_gene': 'SPRY1', 'score': 0.39}, {'connected_gene': 'LOC105377404', 'score': 0.21}, {'connected_gene': 'GC04P123213', 'score': 0.09}]
chr4 GH04I123378 123378798 123379935 0.46 [{'connected_gene': 'SPRY1', 'score': 0.37}, {'connected_gene': 'LOC105377404', 'score': 0.23}, {'connected_gene': 'GC04P123213', 'score': 0.1}]
chr4 GH04I123395 123395416 123396059 0.2 [{'connected_gene': 'SPRY1', 'score': 550.77}, {'connected_gene': 'LOC105377404', 'score': 0.2}, {'connected_gene': 'GC04P123213', 'score': 0.09}]
chr4 GH04I123519 123519643 123520765 0.2 [{'connected_gene': 'SPRY1', 'score': 11.42}, {'connected_gene': 'TRC-GCA2-1', 'score': 0.39}, {'connected_gene': 'PIR75522', 'score': 0.39}, {'connected_gene': 'LINC02435', 'score': 0.39}, {'connected_gene': 'ENSG00000249125', 'score': 0.31}, {'connected_gene': 'GC04P123546', 'score': 0.31}]
chr4 GH04I123521 123521924 123523670 0.31 [{'connected_gene': 'SPRY1', 'score': 11.42}, {'connected_gene': 'TRC-GCA2-1', 'score': 0.39}, {'connected_gene': 'PIR75522', 'score': 0.39}, {'connected_gene': 'LINC02435', 'score': 0.37}, {'connected_gene': 'GC04P123546', 'score': 0.34}, {'connected_gene': 'ENSG00000249125', 'score': 0.29}]
chr4 GH04I123423 123423401 123424635 0.2 [{'connected_gene': 'SPRY1', 'score': 12.14}, {'connected_gene': 'ENSG00000249125', 'score': 0.2}]
chr4 GH04I123481 123481126 123481255 0.31 [{'connected_gene': 'SPRY1', 'score': 10.95}, {'connected_gene': 'ENSG00000249125', 'score': 0.44}]
chr4 GH04I123446 123446466 123447285 0.6 [{'connected_gene': 'SPRY1', 'score': 11.89}, {'connected_gene': 'ENSG00000249125', 'score': 0.26}]
chr4 GH04I123484 123484506 123484655 0.38 [{'connected_gene': 'SPRY1', 'score': 11.62}, {'connected_gene': 'ENSG00000249125', 'score': 0.44}]
chr4 GH04I123449 123449143 123450721 0.94 [{'connected_gene': 'SPRY1', 'score': 11.89}, {'connected_gene': 'ENSG00000249125', 'score': 0.26}]
chr4 GH04I123462 123462273 123465299 0.58 [{'connected_gene': 'SPRY1', 'score': 11.95}, {'connected_gene': 'ENSG00000249125', 'score': 0.31}]
chr4 GH04I123442 123442816 123444983 1.57 [{'connected_gene': 'SPRY1', 'score': 13.95}, {'connected_gene': 'ENSG00000249125', 'score': 0.25}]
chr4 GH04I123411 123411557 123414227 1.22 [{'connected_gene': 'SPRY1', 'score': 0.37}, {'connected_gene': 'ENSG00000249125', 'score': 0.18}]
chr4 GH04I123415 123415051 123422822 1.37 [{'connected_gene': 'SPRY1', 'score': 12.17}, {'connected_gene': 'ENSG00000249125', 'score': 0.19}]
chr4 GH04I123430 123430150 123430922 0.43 [{'connected_gene': 'SPRY1', 'score': 11.69}, {'connected_gene': 'ENSG00000249125', 'score': 0.22}]
chr4 GH04I123494 123494643 123496914 0.68 [{'connected_gene': 'ENSG00000249125', 'score': 23.59}, {'connected_gene': 'SPRY1', 'score': 11.8}, {'connected_gene': 'LINC02435', 'score': 0.44}]
chr4 GH04I123488 123488647 123489747 1.12 [{'connected_gene': 'ENSG00000249125', 'score': 578.78}, {'connected_gene': 'SPRY1', 'score': 11.74}]
chr4 GH04I123452 123452542 123453859 1.07 [{'connected_gene': 'ENSG00000249125', 'score': 0.28}, {'connected_gene': 'SPRY1', 'score': 0.22}]

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