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
ENST00000317605 [[151503076, 151505843]] [[151504181, 151505261]]
NM_006439 [[151503076, 151505845]] [[151504181, 151505261]]
Promoter
Chrom Start End Description
chr4 151503105 151503132 CAGE_peak_2_at_MAB21L2_5end
chr4 151503215 151503245 CAGE_peak_4_at_MAB21L2_5end
chr4 151503277 151503309 CAGE_peak_1_at_MAB21L2_5end
chr4 151503350 151503358 CAGE_peak_11_at_MAB21L2_5end
chr4 151503383 151503398 CAGE_peak_3_at_MAB21L2_5end
chr4 151503507 151503518 CAGE_peak_6_at_MAB21L2_5end
chr4 151503541 151503558 CAGE_peak_5_at_MAB21L2_5end
chr4 151503647 151503656 CAGE_peak_14_at_MAB21L2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I150518 150518649 150518838 0.56 [{'connected_gene': 'LRBA', 'score': 14.09}, {'connected_gene': 'MAB21L2', 'score': 10.45}, {'connected_gene': 'ENSG00000249690', 'score': 10.45}, {'connected_gene': 'LOC100419161', 'score': 0.15}]
chr4 GH04I150849 150849129 150849278 0.43 [{'connected_gene': 'LRBA', 'score': 10.05}, {'connected_gene': 'MAB21L2', 'score': 10.01}, {'connected_gene': 'ENSG00000249690', 'score': 10.01}, {'connected_gene': 'GC04M150841', 'score': 0.44}, {'connected_gene': 'GC04M150780', 'score': 0.21}]
chr4 GH04I150708 150708113 150708404 0.63 [{'connected_gene': 'MAB21L2', 'score': 10.31}, {'connected_gene': 'ENSG00000249690', 'score': 10.31}, {'connected_gene': 'LRBA', 'score': 10.24}, {'connected_gene': 'ENSG00000270681', 'score': 8.43}, {'connected_gene': 'ZBTB8OSP1', 'score': 0.39}, {'connected_gene': 'GC04P150696', 'score': 0.39}]
chr4 GH04I150721 150721955 150724781 0.92 [{'connected_gene': 'MAB21L2', 'score': 9.98}, {'connected_gene': 'ENSG00000249690', 'score': 9.98}, {'connected_gene': 'LRBA', 'score': 9.93}, {'connected_gene': 'ENSG00000270681', 'score': 5.79}, {'connected_gene': 'RPS3A', 'score': 5.5}, {'connected_gene': 'ZBTB8OSP1', 'score': 0.77}, {'connected_gene': 'GC04P150764', 'score': 0.26}]
chr4 GH04I150509 150509686 150511258 0.63 [{'connected_gene': 'MAB21L2', 'score': 16.37}, {'connected_gene': 'LRBA', 'score': 15.18}, {'connected_gene': 'ENSG00000249690', 'score': 11.07}, {'connected_gene': 'DCLK2', 'score': 4.29}, {'connected_gene': 'LOC100419161', 'score': 0.17}]
chr4 GH04I150664 150664264 150665979 0.59 [{'connected_gene': 'MAB21L2', 'score': 10.83}, {'connected_gene': 'ENSG00000249690', 'score': 10.82}, {'connected_gene': 'LRBA', 'score': 10.71}, {'connected_gene': 'ENSG00000270681', 'score': 5.06}, {'connected_gene': 'SH3D19', 'score': 4.54}, {'connected_gene': 'RPS3A', 'score': 4.1}, {'connected_gene': 'GC04P150691', 'score': 0.31}]
chr4 GH04I150657 150657919 150658124 0.4 [{'connected_gene': 'MAB21L2', 'score': 11.4}, {'connected_gene': 'ENSG00000249690', 'score': 11.4}, {'connected_gene': 'LRBA', 'score': 11.27}, {'connected_gene': 'SH3D19', 'score': 3.82}, {'connected_gene': 'GC04P150691', 'score': 0.29}]
chr4 GH04I150403 150403001 150403200 0.63 [{'connected_gene': 'MAB21L2', 'score': 10.75}, {'connected_gene': 'ENSG00000249690', 'score': 10.75}, {'connected_gene': 'LRBA', 'score': 10.68}, {'connected_gene': 'LOC100419161', 'score': 0.34}, {'connected_gene': 'GC04P150366', 'score': 0.28}]
chr4 GH04I150628 150628171 150628500 0.51 [{'connected_gene': 'MAB21L2', 'score': 0.25}, {'connected_gene': 'GC04P150691', 'score': 0.21}, {'connected_gene': 'LRBA', 'score': 0.05}]
chr4 GH04I150600 150600873 150601113 0.63 [{'connected_gene': 'MAB21L2', 'score': 0.37}, {'connected_gene': 'GC04P150691', 'score': 0.16}, {'connected_gene': 'LRBA', 'score': 0.05}]
chr4 GH04I150598 150598955 150599269 0.31 [{'connected_gene': 'MAB21L2', 'score': 0.37}, {'connected_gene': 'GC04P150691', 'score': 0.16}, {'connected_gene': 'LRBA', 'score': 0.05}]
chr4 GH04I150599 150599272 150599882 0.4 [{'connected_gene': 'MAB21L2', 'score': 0.37}, {'connected_gene': 'GC04P150691', 'score': 0.16}, {'connected_gene': 'LRBA', 'score': 0.05}]
chr4 GH04I150591 150591323 150591975 0.77 [{'connected_gene': 'MAB21L2', 'score': 0.44}, {'connected_gene': 'GC04P150691', 'score': 0.15}, {'connected_gene': 'LRBA', 'score': 0.05}]
chr4 GH04I150577 150577837 150588968 2.27 [{'connected_gene': 'MAB21L2', 'score': 550.77}, {'connected_gene': 'ENSG00000270681', 'score': 7.02}, {'connected_gene': 'FAM160A1', 'score': 4.91}, {'connected_gene': 'RPS3A', 'score': 4.4}, {'connected_gene': 'ENSG00000249690', 'score': 0.77}, {'connected_gene': 'GC04P150691', 'score': 0.14}, {'connected_gene': 'LRBA', 'score': 0.04}]
chr4 GH04I150592 150592946 150595072 0.49 [{'connected_gene': 'ENSG00000270681', 'score': 7.09}, {'connected_gene': 'RPS3A', 'score': 4.91}, {'connected_gene': 'MAB21L2', 'score': 0.39}, {'connected_gene': 'GC04P150691', 'score': 0.15}, {'connected_gene': 'LRBA', 'score': 0.05}]
chr4 GH04I150308 150308296 150310307 0.43 [{'connected_gene': 'ENSG00000249690', 'score': 9.77}, {'connected_gene': 'MAB21L2', 'score': 9.77}, {'connected_gene': 'LRBA', 'score': 9.74}, {'connected_gene': 'DCLK2', 'score': 4.43}, {'connected_gene': 'GC04P150322', 'score': 0.39}, {'connected_gene': 'RNU7-194P', 'score': 0.15}]
chr4 GH04I150484 150484392 150484403 0.22 [{'connected_gene': 'ENSG00000249690', 'score': 10.71}, {'connected_gene': 'MAB21L2', 'score': 10.71}, {'connected_gene': 'LRBA', 'score': 10.58}, {'connected_gene': 'LOC100419161', 'score': 0.21}]
chr4 GH04I150540 150540201 150541428 0.69 [{'connected_gene': 'ENSG00000249690', 'score': 11.67}, {'connected_gene': 'MAB21L2', 'score': 11.66}, {'connected_gene': 'LRBA', 'score': 11.44}, {'connected_gene': 'LOC100419161', 'score': 0.13}]
chr4 GH04I150680 150679862 150680298 0.51 [{'connected_gene': 'GC04P150691', 'score': 0.39}, {'connected_gene': 'MAB21L2', 'score': 0.15}, {'connected_gene': 'LRBA', 'score': 0.05}]
chr4 GH04I150679 150679306 150679642 0.76 [{'connected_gene': 'GC04P150691', 'score': 0.39}, {'connected_gene': 'MAB21L2', 'score': 0.15}, {'connected_gene': 'LRBA', 'score': 0.05}]
chr4 GH04I150681 150680381 150680941 0.4 [{'connected_gene': 'ENSG00000270681', 'score': 5.79}, {'connected_gene': 'GC04P150691', 'score': 0.39}, {'connected_gene': 'MAB21L2', 'score': 0.15}, {'connected_gene': 'LRBA', 'score': 0.05}]