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
ENST00000296499 [[118955499, 118955747], [118974910, 118976046], [119026172, 119026260], [119035960, 119036115], [119059208, 119059394], [119064710, 119064839], [119145645, 119145828], [119148040, 119148137], [119154166, 119154290], [119158200, 119158375], [119161678, 119161849], [119163194, 119163304], [119174653, 119174756], [119176747, 119179803]] [[118975065, 118976046], [119026172, 119026260], [119035960, 119036115], [119059208, 119059394], [119064710, 119064839], [119145645, 119145828], [119148040, 119148137], [119154166, 119154290], [119158200, 119158375], [119161678, 119161849], [119163194, 119163304], [119174653, 119174756], [119176747, 119176867]]
ENST00000433996 [[118955648, 118955747], [118974910, 118976046], [119059208, 119059394], [119064710, 119064839], [119145645, 119145828], [119148040, 119148137], [119154166, 119154246], [119158200, 119158291]] [[118975065, 118976046], [119059208, 119059394], [119064710, 119064839], [119145645, 119145828], [119148040, 119148137], [119154166, 119154246], [119158200, 119158230]]
ENST00000394488 [[118954772, 118955066], [118974910, 118976800]] None
NM_004784 [[118955499, 118955747], [118974910, 118976046], [119026172, 119026260], [119035960, 119036115], [119059208, 119059394], [119064710, 119064839], [119145645, 119145828], [119148040, 119148137], [119154166, 119154290], [119158200, 119158375], [119161678, 119161849], [119163194, 119163304], [119174653, 119174756], [119176747, 119179789]] [[118975065, 118976046], [119026172, 119026260], [119035960, 119036115], [119059208, 119059394], [119064710, 119064839], [119145645, 119145828], [119148040, 119148137], [119154166, 119154290], [119158200, 119158375], [119161678, 119161849], [119163194, 119163304], [119174653, 119174756], [119176747, 119176867]]
Promoter
Chrom Start End Description
chr4 118954422 118954433 CAGE_peak_7_at_NDST3_5end
chr4 118954471 118954482 CAGE_peak_6_at_NDST3_5end
chr4 118954493 118954509 CAGE_peak_4_at_NDST3_5end
chr4 118954513 118954541 CAGE_peak_2_at_NDST3_5end
chr4 118954794 118954869 CAGE_peak_1_at_NDST3_5end
chr4 118955591 118955612 CAGE_peak_5_at_NDST3_5end
chr4 118955635 118955655 CAGE_peak_3_at_NDST3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I118042 118042186 118042245 0.5 [{'connected_gene': 'NDST3', 'score': 550.44}, {'connected_gene': 'FKBP4P1', 'score': 0.1}]
chr4 GH04I118169 118169632 118170557 0.2 [{'connected_gene': 'NDST3', 'score': 4.34}, {'connected_gene': 'FKBP4P1', 'score': 0.34}]
chr4 GH04I118034 118034286 118034455 1.13 [{'connected_gene': 'NDST3', 'score': 550.77}, {'connected_gene': 'FKBP4P1', 'score': 0.1}]
chr4 GH04I118033 118033157 118034201 1.27 [{'connected_gene': 'NDST3', 'score': 550.77}, {'connected_gene': 'SNHG8', 'score': 4.99}, {'connected_gene': 'FKBP4P1', 'score': 0.1}]
chr4 GH04I118032 118032706 118032975 0.67 [{'connected_gene': 'NDST3', 'score': 562.05}, {'connected_gene': 'SNHG8', 'score': 4.37}, {'connected_gene': 'GC04P117942', 'score': 0.16}]
chr4 GH04I118206 118206207 118207064 0.2 [{'connected_gene': 'CICP16', 'score': 4.0}, {'connected_gene': 'PIR50208', 'score': 0.44}, {'connected_gene': 'LOC105377392', 'score': 0.22}, {'connected_gene': 'NDST3', 'score': 0.09}]
chr4 GH04I118194 118194269 118194338 0.22 [{'connected_gene': 'FKBP4P1', 'score': 550.77}, {'connected_gene': 'NDST3', 'score': 0.1}]
chr4 GH04I118173 118173241 118175833 0.51 [{'connected_gene': 'FKBP4P1', 'score': 10.24}, {'connected_gene': 'SNHG8', 'score': 6.48}, {'connected_gene': 'NDST3', 'score': 4.12}]
chr4 GH04I118220 118220437 118224408 0.6 [{'connected_gene': 'SNHG8', 'score': 17.27}, {'connected_gene': 'NDST3', 'score': 11.38}, {'connected_gene': 'FKBP4P1', 'score': 9.01}, {'connected_gene': 'CICP16', 'score': 4.3}, {'connected_gene': 'PIR50208', 'score': 0.34}, {'connected_gene': 'LOC105377392', 'score': 0.26}]
chr4 GH04I118086 118086446 118086615 0.46 [{'connected_gene': 'SNHG8', 'score': 4.38}, {'connected_gene': 'NDST3', 'score': 0.23}, {'connected_gene': 'FKBP4P1', 'score': 0.14}]
chr4 GH04I118168 118168279 118169605 0.2 [{'connected_gene': 'SNHG8', 'score': 6.48}, {'connected_gene': 'FKBP4P1', 'score': 0.31}, {'connected_gene': 'NDST3', 'score': 0.12}]
chr4 GH04I118178 118178472 118185141 0.31 [{'connected_gene': 'SNHG8', 'score': 12.0}, {'connected_gene': 'FKBP4P1', 'score': 9.57}, {'connected_gene': 'NDST3', 'score': 0.11}]
chr4 GH04I118158 118158569 118159372 0.2 [{'connected_gene': 'SNHG8', 'score': 12.29}, {'connected_gene': 'FKBP4P1', 'score': 0.28}, {'connected_gene': 'NDST3', 'score': 0.13}]
chr4 GH04I118224 118224426 118225923 0.6 [{'connected_gene': 'SNHG8', 'score': 33.1}, {'connected_gene': 'FKBP4P1', 'score': 9.0}, {'connected_gene': 'METTL14', 'score': 6.41}, {'connected_gene': 'NDST3', 'score': 4.79}, {'connected_gene': 'PIR50208', 'score': 0.34}, {'connected_gene': 'LOC105377392', 'score': 0.26}]
chr4 GH04I118215 118215674 118217730 0.2 [{'connected_gene': 'SNHG8', 'score': 17.26}, {'connected_gene': 'FKBP4P1', 'score': 9.03}, {'connected_gene': 'PIR50208', 'score': 0.37}, {'connected_gene': 'LOC105377392', 'score': 0.25}, {'connected_gene': 'NDST3', 'score': 0.09}]
chr4 GH04I117983 117983166 117984508 0.43 [{'connected_gene': 'GC04P117942', 'score': 0.26}, {'connected_gene': 'NDST3', 'score': 0.25}]