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
ENST00000380377 [[76986990, 76987323], [76989090, 76989177], [77004066, 77004172], [77072028, 77072185]] [[76987242, 76987323], [76989090, 76989177], [77004066, 77004172], [77072028, 77072081]]
ENST00000306388 [[76987065, 76989177], [77004066, 77004172], [77072028, 77072111]] [[76988946, 76989177], [77004066, 77004172], [77072028, 77072081]]
ENST00000520361 [[76987072, 76987323], [77004066, 77004172], [77072028, 77072117]] [[76987242, 76987323], [77004066, 77004172], [77072028, 77072081]]
ENST00000518338 [[76987091, 76987323], [76989090, 76989177], [77001390, 77001459], [77004066, 77004172], [77072028, 77072085]] [[76987242, 76987323], [76989090, 76989177], [77001390, 77001459], [77004066, 77004172], [77072028, 77072081]]
ENST00000522370 [[76987228, 76987323], [76989090, 76989177], [77004066, 77004172], [77164457, 77164604]] [[76987242, 76987323], [76989090, 76989177], [77004066, 77004153]]
ENST00000520039 [[76989090, 76989177], [77072028, 77072098]] [[76989149, 76989177], [77072028, 77072081]]
ENST00000518218 [[76987065, 76987323], [76989090, 76989177], [77004066, 77004438]] None
ENST00000517679 [[76987065, 76987323], [76989090, 76989177], [77004066, 77004172], [77011048, 77011142]] [[76987242, 76987323], [76989090, 76989177], [77004066, 77004172], [77011048, 77011134]]
ENST00000517881 [[76987083, 76987323], [76989090, 76989177], [76990070, 76990102]] None
NM_001297738 [[76986993, 76989177], [77004066, 77004172], [77072028, 77072185]] [[76988946, 76989177], [77004066, 77004172], [77072028, 77072081]]
NM_001297740 [[76986993, 76987323], [77004066, 77004172], [77072028, 77072185]] [[76987242, 76987323], [77004066, 77004172], [77072028, 77072081]]
NM_004607 [[76986994, 76987323], [76989090, 76989177], [77004066, 77004172], [77072028, 77072185]] [[76987242, 76987323], [76989090, 76989177], [77004066, 77004172], [77072028, 77072081]]
Promoter
Chrom Start End Description
chr5 77072098 77072139 CAGE_peak_2_at_TBCA_5end
chr5 77072145 77072190 CAGE_peak_1_at_TBCA_5end
chr5 77072305 77072314 CAGE_peak_6_at_TBCA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I077959 77959669 77961283 0.6 [{'connected_gene': 'TBCA', 'score': 21.76}, {'connected_gene': 'ALDH7A1P1', 'score': 16.13}, {'connected_gene': 'OTP', 'score': 10.55}, {'connected_gene': 'ENSG00000253572', 'score': 0.39}, {'connected_gene': 'TRQ-TTG7-1', 'score': 0.21}]
chr5 GH05I077761 77761717 77761866 0.2 [{'connected_gene': 'TBCA', 'score': 11.11}, {'connected_gene': 'OTP', 'score': 10.88}, {'connected_gene': 'GC05M077761', 'score': 0.77}, {'connected_gene': 'GC05M077749', 'score': 0.44}]
chr5 GH05I077672 77672050 77672183 0.22 [{'connected_gene': 'TBCA', 'score': 1.29}, {'connected_gene': 'GC05M077675', 'score': 0.44}, {'connected_gene': 'OTP', 'score': 0.29}]
chr5 GH05I077774 77773927 77777145 2.04 [{'connected_gene': 'TBCA', 'score': 563.56}, {'connected_gene': 'LOC105379045', 'score': 550.77}, {'connected_gene': 'PIR43480', 'score': 550.77}, {'connected_gene': 'OTP', 'score': 10.08}]
chr5 GH05I077935 77935801 77936433 1.14 [{'connected_gene': 'TBCA', 'score': 11.48}, {'connected_gene': 'ENSG00000253572', 'score': 0.39}, {'connected_gene': 'GC05M077895', 'score': 0.31}, {'connected_gene': 'LOC101929154', 'score': 0.23}]
chr5 GH05I077937 77937201 77938000 0.63 [{'connected_gene': 'TBCA', 'score': 11.48}, {'connected_gene': 'ENSG00000253572', 'score': 0.44}, {'connected_gene': 'GC05M077895', 'score': 0.31}, {'connected_gene': 'LOC101929154', 'score': 0.23}]
chr5 GH05I078778 78778194 78780763 1.07 [{'connected_gene': 'TBCA', 'score': 10.49}, {'connected_gene': 'LHFPL2', 'score': 0.44}, {'connected_gene': 'GC05P078984', 'score': 0.08}, {'connected_gene': 'ARSB', 'score': 0.08}]
chr5 GH05I077912 77912519 77912898 0.4 [{'connected_gene': 'TBCA', 'score': 11.81}, {'connected_gene': 'HMGB1P21', 'score': 4.41}, {'connected_gene': 'GC05M077895', 'score': 0.44}, {'connected_gene': 'LOC101929154', 'score': 0.31}, {'connected_gene': 'ENSG00000253572', 'score': 0.29}, {'connected_gene': 'GC05P077817', 'score': 0.16}]
chr5 GH05I077724 77724780 77726683 0.71 [{'connected_gene': 'TBCA', 'score': 10.69}, {'connected_gene': 'GC05M077749', 'score': 0.31}, {'connected_gene': 'GC05P077690', 'score': 0.28}]
chr5 GH05I077843 77843897 77845200 0.95 [{'connected_gene': 'TBCA', 'score': 0.34}, {'connected_gene': 'GC05P077817', 'score': 0.31}]
chr5 GH05I077850 77850034 77850278 0.51 [{'connected_gene': 'TBCA', 'score': 0.37}, {'connected_gene': 'GC05P077817', 'score': 0.29}]
chr5 GH05I077864 77864801 77866000 0.43 [{'connected_gene': 'TBCA', 'score': 0.77}, {'connected_gene': 'GC05P077817', 'score': 0.25}]
chr5 GH05I077784 77784801 77785200 0.5 [{'connected_gene': 'ACTBP2', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 17.45}, {'connected_gene': 'GC05P077817', 'score': 0.29}]
chr5 GH05I077845 77845919 77849307 0.82 [{'connected_gene': 'RPL7P23', 'score': 10.02}, {'connected_gene': 'TBCA', 'score': 0.34}, {'connected_gene': 'GC05P077817', 'score': 0.31}]
chr5 GH05I077730 77730401 77730669 0.35 [{'connected_gene': 'RPL7P23', 'score': 10.07}, {'connected_gene': 'GC05M077749', 'score': 0.34}, {'connected_gene': 'GC05P077690', 'score': 0.26}, {'connected_gene': 'TBCA', 'score': 0.12}]
chr5 GH05I077851 77851201 77853412 2.2 [{'connected_gene': 'RPL7P23', 'score': 9.71}, {'connected_gene': 'TBCA', 'score': 0.37}, {'connected_gene': 'GC05P077817', 'score': 0.29}]
chr5 GH05I077166 77166546 77169812 1.12 [{'connected_gene': 'ALDH7A1P1', 'score': 24.85}, {'connected_gene': 'RPL7P23', 'score': 11.0}, {'connected_gene': 'TBCA', 'score': 10.49}, {'connected_gene': 'PDE8B', 'score': 5.13}, {'connected_gene': 'HMGB1P35', 'score': 0.34}, {'connected_gene': 'ZBED3-AS1', 'score': 0.18}]
chr5 GH05I077681 77681200 77681402 0.48 [{'connected_gene': 'OTP', 'score': 17.62}, {'connected_gene': 'TBCA', 'score': 12.33}, {'connected_gene': 'GC05M077675', 'score': 0.77}, {'connected_gene': 'GC05P077690', 'score': 0.44}]
chr5 GH05I077862 77862546 77864042 0.2 [{'connected_gene': 'OTP', 'score': 9.57}, {'connected_gene': 'TBCA', 'score': 0.44}, {'connected_gene': 'GC05P077817', 'score': 0.25}]
chr5 GH05I077777 77777617 77777766 0.57 [{'connected_gene': 'LOC105379045', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 10.94}, {'connected_gene': 'OTP', 'score': 10.08}, {'connected_gene': 'ACTBP2', 'score': 0.44}]
chr5 GH05I077946 77946572 77946832 1.06 [{'connected_gene': 'ENSG00000253572', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 11.98}, {'connected_gene': 'LOC101929154', 'score': 0.21}, {'connected_gene': 'TRQ-TTG7-1', 'score': 0.18}]
chr5 GH05I077905 77905501 77907371 0.59 [{'connected_gene': 'GC05M077895', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 11.82}, {'connected_gene': 'GC05M077894', 'score': 0.39}, {'connected_gene': 'LOC101929154', 'score': 0.34}, {'connected_gene': 'GC05P077817', 'score': 0.17}]
chr5 GH05I077869 77869140 77869547 0.76 [{'connected_gene': 'GC05P077869', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 550.77}, {'connected_gene': 'LOC101929154', 'score': 0.37}, {'connected_gene': 'GC05P077817', 'score': 0.23}]
chr5 GH05I078503 78503802 78512253 1.7 [{'connected_gene': 'PIR51536', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 10.5}, {'connected_gene': 'LHFPL2', 'score': 9.34}, {'connected_gene': 'SCAMP1-AS1', 'score': 8.71}, {'connected_gene': 'SCAMP1', 'score': 7.18}, {'connected_gene': 'ARSB', 'score': 2.98}, {'connected_gene': 'AP3B1', 'score': 2.85}]
chr5 GH05I077868 77868745 77868979 0.6 [{'connected_gene': 'GC05P077869', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 550.77}, {'connected_gene': 'GC05P077817', 'score': 0.23}]
chr5 GH05I077752 77751508 77751526 0.46 [{'connected_gene': 'GC05M077749', 'score': 550.77}, {'connected_gene': 'GC05P077690', 'score': 0.21}, {'connected_gene': 'TBCA', 'score': 0.13}]
chr5 GH05I077751 77751597 77751746 0.46 [{'connected_gene': 'GC05M077749', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 13.72}, {'connected_gene': 'GC05P077690', 'score': 0.21}]
chr5 GH05I077773 77773001 77773200 0.52 [{'connected_gene': 'PIR43480', 'score': 550.77}, {'connected_gene': 'LOC105379045', 'score': 0.77}, {'connected_gene': 'GC05M077761', 'score': 0.44}, {'connected_gene': 'TBCA', 'score': 0.15}]