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
ENST00000296473 [[49946301, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49967041, 49967578]] [[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49967041, 49967319]]
ENST00000455683 [[49946305, 49946587], [49946685, 49946833], [49947551, 49948317], [49950652, 49950792], [49967041, 49967322]] [[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49950652, 49950792], [49967041, 49967319]]
ENST00000417270 [[49946305, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49961966, 49962106], [49967041, 49967606]] [[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49961966, 49961977]]
ENST00000486107 [[49946307, 49948317], [49950652, 49950792], [49967041, 49967322]] None
ENST00000484985 [[49948964, 49949444], [49950652, 49950792], [49966801, 49966966]] None
ENST00000483022 [[49949053, 49949444], [49950652, 49950792], [49953305, 49953423], [49967041, 49967267]] None
ENST00000493206 [[49949198, 49949444], [49950652, 49950792], [49966862, 49967038]] None
ENST00000473451 [[49949829, 49950792], [49967041, 49967320]] None
NM_032355 [[49946301, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49967041, 49967445]] [[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49948958, 49949444], [49950652, 49950792], [49967041, 49967319]]
NM_001142501 [[49946301, 49946587], [49946685, 49946833], [49947551, 49948317], [49950652, 49950792], [49967041, 49967445]] [[49946446, 49946587], [49946685, 49946833], [49947551, 49948317], [49950652, 49950792], [49967041, 49967319]]
Promoter
Chrom Start End Description
chr3 49967218 49967291 CAGE_peak_1_at_MON1A_5end
chr3 49967292 49967327 CAGE_peak_2_at_MON1A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049924 49924465 49931909 2.25 [{'connected_gene': 'MON1A', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 43.9}, {'connected_gene': 'CDHR4', 'score': 8.77}, {'connected_gene': 'GPX1', 'score': 4.73}, {'connected_gene': 'SEMA3F-AS1', 'score': 4.44}, {'connected_gene': 'HYAL1', 'score': 3.64}, {'connected_gene': 'GC03P049904', 'score': 0.34}, {'connected_gene': 'LOC102724438', 'score': 0.31}, {'connected_gene': 'GC03P049762', 'score': 0.1}, {'connected_gene': 'GC03P049763', 'score': 0.1}]
chr3 GH03I050003 50003306 50003417 0.26 [{'connected_gene': 'MON1A', 'score': 10.96}, {'connected_gene': 'RBM6', 'score': 10.95}, {'connected_gene': 'RBM5', 'score': 10.79}, {'connected_gene': 'IP6K1', 'score': 10.33}, {'connected_gene': 'PHF5EP', 'score': 10.32}, {'connected_gene': 'SEMA3B', 'score': 5.08}, {'connected_gene': 'GC03P049762', 'score': 0.07}, {'connected_gene': 'GC03P049763', 'score': 0.07}]
chr3 GH03I050192 50192274 50196569 1.21 [{'connected_gene': 'HYAL3', 'score': 21.62}, {'connected_gene': 'RBM6', 'score': 20.73}, {'connected_gene': 'GNAI2', 'score': 13.03}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.11}, {'connected_gene': 'SEMA3F', 'score': 12.11}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.06}, {'connected_gene': 'SEMA3B', 'score': 12.06}, {'connected_gene': 'LSMEM2', 'score': 12.05}, {'connected_gene': 'HYAL1', 'score': 11.69}, {'connected_gene': 'IFRD2', 'score': 11.21}, {'connected_gene': 'RBM5', 'score': 10.65}, {'connected_gene': 'IP6K1', 'score': 9.88}, {'connected_gene': 'PHF5EP', 'score': 9.88}, {'connected_gene': 'MON1A', 'score': 9.45}, {'connected_gene': 'GNAT1', 'score': 0.77}, {'connected_gene': 'SLC38A3', 'score': 0.39}]
chr3 GH03I050154 50154448 50173170 2.73 [{'connected_gene': 'SEMA3F', 'score': 560.53}, {'connected_gene': 'RBM6', 'score': 30.9}, {'connected_gene': 'RBM5', 'score': 15.13}, {'connected_gene': 'MON1A', 'score': 14.05}, {'connected_gene': 'GNAI2', 'score': 13.23}, {'connected_gene': 'HYAL3', 'score': 12.49}, {'connected_gene': 'CYB561D2', 'score': 10.14}, {'connected_gene': 'CCDC36', 'score': 6.35}, {'connected_gene': 'MAPKAPK3', 'score': 6.18}, {'connected_gene': 'KLHDC8B', 'score': 5.35}, {'connected_gene': 'DOCK3', 'score': 4.3}, {'connected_gene': 'IFRD2', 'score': 4.12}, {'connected_gene': 'HYAL2', 'score': 3.99}, {'connected_gene': 'TUSC2', 'score': 2.74}, {'connected_gene': 'MST1R', 'score': 2.4}, {'connected_gene': 'FAM212A', 'score': 2.21}, {'connected_gene': 'GMPPB', 'score': 1.37}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'GC03P050173', 'score': 0.44}]
chr3 GH03I049898 49898118 49907283 2.09 [{'connected_gene': 'MST1R', 'score': 559.86}, {'connected_gene': 'GC03P049904', 'score': 550.77}, {'connected_gene': 'ENSG00000228008', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 45.84}, {'connected_gene': 'GMPPB', 'score': 6.98}, {'connected_gene': 'IFRD2', 'score': 3.88}, {'connected_gene': 'SEMA3F', 'score': 3.25}, {'connected_gene': 'MON1A', 'score': 2.83}, {'connected_gene': 'APEH', 'score': 2.78}, {'connected_gene': 'TUSC2', 'score': 1.82}, {'connected_gene': 'FAM212A', 'score': 1.41}, {'connected_gene': 'ENSG00000230698', 'score': 0.77}, {'connected_gene': 'LOC102724438', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.12}, {'connected_gene': 'GC03P049763', 'score': 0.12}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
chr3 GH03I050028 50028488 50028637 0.2 [{'connected_gene': 'RBM5', 'score': 12.0}, {'connected_gene': 'RBM6', 'score': 11.5}, {'connected_gene': 'MON1A', 'score': 11.48}]
chr3 GH03I049972 49972617 49974057 0.38 [{'connected_gene': 'RBM6', 'score': 54.22}, {'connected_gene': 'MON1A', 'score': 11.85}, {'connected_gene': 'IP6K1', 'score': 10.41}, {'connected_gene': 'PHF5EP', 'score': 10.4}, {'connected_gene': 'SEMA3F', 'score': 9.87}, {'connected_gene': 'SEMA3F-AS1', 'score': 9.87}, {'connected_gene': 'CDHR4', 'score': 8.04}, {'connected_gene': 'RBM5', 'score': 0.13}, {'connected_gene': 'GC03P049762', 'score': 0.08}, {'connected_gene': 'GC03P049763', 'score': 0.08}]
chr3 GH03I049968 49968468 49968617 0.2 [{'connected_gene': 'RBM6', 'score': 11.9}, {'connected_gene': 'MON1A', 'score': 11.87}, {'connected_gene': 'IP6K1', 'score': 10.41}, {'connected_gene': 'PHF5EP', 'score': 10.4}, {'connected_gene': 'SEMA3F-AS1', 'score': 9.87}, {'connected_gene': 'SEMA3F', 'score': 9.87}, {'connected_gene': 'RBM5', 'score': 0.13}, {'connected_gene': 'GC03P049763', 'score': 0.08}, {'connected_gene': 'GC03P049762', 'score': 0.08}]
chr3 GH03I050092 50091428 50091577 0.2 [{'connected_gene': 'RBM6', 'score': 52.84}, {'connected_gene': 'MON1A', 'score': 10.83}, {'connected_gene': 'SEMA3F-AS1', 'score': 10.82}, {'connected_gene': 'SEMA3F', 'score': 10.82}, {'connected_gene': 'RBM5', 'score': 0.77}, {'connected_gene': 'RBM5-AS1', 'score': 0.44}]
chr3 GH03I050091 50091048 50091197 0.52 [{'connected_gene': 'RBM6', 'score': 10.84}, {'connected_gene': 'MON1A', 'score': 10.83}, {'connected_gene': 'SEMA3F-AS1', 'score': 10.82}, {'connected_gene': 'SEMA3F', 'score': 10.82}, {'connected_gene': 'RBM5', 'score': 0.77}, {'connected_gene': 'RBM5-AS1', 'score': 0.44}]
chr3 GH03I049936 49936878 49938117 0.79 [{'connected_gene': 'RBM6', 'score': 44.28}, {'connected_gene': 'MON1A', 'score': 0.44}, {'connected_gene': 'GC03P049763', 'score': 0.09}, {'connected_gene': 'GC03P049762', 'score': 0.09}]
chr3 GH03I050049 50049635 50051391 0.62 [{'connected_gene': 'RBM6', 'score': 68.53}, {'connected_gene': 'RBM5', 'score': 26.21}, {'connected_gene': 'HEMK1', 'score': 11.86}, {'connected_gene': 'AMT', 'score': 11.8}, {'connected_gene': 'QRICH1', 'score': 11.74}, {'connected_gene': 'MON1A', 'score': 11.36}, {'connected_gene': 'ENSG00000230454', 'score': 11.06}, {'connected_gene': 'DOCK3', 'score': 4.1}]
chr3 GH03I050100 50100568 50101786 0.38 [{'connected_gene': 'RBM5-AS1', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 51.57}, {'connected_gene': 'SEMA3F-AS1', 'score': 11.18}, {'connected_gene': 'SEMA3F', 'score': 11.18}, {'connected_gene': 'MON1A', 'score': 10.31}, {'connected_gene': 'RBM5', 'score': 0.39}]
chr3 GH03I049918 49918001 49918400 0.2 [{'connected_gene': 'GC03P049904', 'score': 0.39}, {'connected_gene': 'MON1A', 'score': 0.39}, {'connected_gene': 'LOC102724438', 'score': 0.37}, {'connected_gene': 'GC03P049763', 'score': 0.1}, {'connected_gene': 'GC03P049762', 'score': 0.1}]
chr3 GH03I050188 50188868 50190037 1 [{'connected_gene': 'GC03P050187', 'score': 550.77}, {'connected_gene': 'GC03P050190', 'score': 550.77}, {'connected_gene': 'GNAI2', 'score': 12.78}, {'connected_gene': 'SEMA3F', 'score': 12.49}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.49}, {'connected_gene': 'SEMA3B-AS1', 'score': 11.75}, {'connected_gene': 'SEMA3B', 'score': 11.75}, {'connected_gene': 'LSMEM2', 'score': 11.74}, {'connected_gene': 'IFRD2', 'score': 11.2}, {'connected_gene': 'HYAL3', 'score': 11.18}, {'connected_gene': 'MON1A', 'score': 9.56}, {'connected_gene': 'RBM6', 'score': 9.55}, {'connected_gene': 'GC03P050192', 'score': 0.77}, {'connected_gene': 'GC03P050191', 'score': 0.77}]
chr3 GH03I049910 49910968 49911117 0.46 [{'connected_gene': 'GC03P049904', 'score': 0.44}, {'connected_gene': 'ENSG00000228008', 'score': 0.44}, {'connected_gene': 'LOC102724438', 'score': 0.39}, {'connected_gene': 'MON1A', 'score': 0.37}, {'connected_gene': 'GC03P049763', 'score': 0.11}, {'connected_gene': 'GC03P049762', 'score': 0.11}]
chr3 GH03I049907 49907454 49907884 0.2 [{'connected_gene': 'GC03P049904', 'score': 0.77}, {'connected_gene': 'ENSG00000228008', 'score': 0.77}, {'connected_gene': 'LOC102724438', 'score': 0.44}, {'connected_gene': 'MON1A', 'score': 0.34}, {'connected_gene': 'GC03P049763', 'score': 0.11}, {'connected_gene': 'GC03P049762', 'score': 0.11}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
chr3 GH03I049911 49910528 49910677 0.49 [{'connected_gene': 'GC03P049904', 'score': 0.44}, {'connected_gene': 'ENSG00000228008', 'score': 0.44}, {'connected_gene': 'LOC102724438', 'score': 0.39}, {'connected_gene': 'MON1A', 'score': 0.37}, {'connected_gene': 'GC03P049763', 'score': 0.11}, {'connected_gene': 'GC03P049762', 'score': 0.11}]