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
ENST00000494318 [[76320148, 76320199], [76398019, 76398051], [76402323, 76402443], [76407639, 76407731], [76439194, 76439369]] None
ENST00000396419 [[76320176, 76320199], [76402323, 76402443], [76459821, 76459916], [76463622, 76463729], [76465276, 76465341]] None
ENST00000354370 [[76320270, 76320397], [76402323, 76402443], [76456045, 76456214], [76459821, 76459916], [76463622, 76463729], [76465276, 76465432], [76468216, 76468304], [76470752, 76470905], [76471035, 76471272], [76472578, 76472701], [76476209, 76476562]] [[76456068, 76456214], [76459821, 76459916], [76463622, 76463729], [76465276, 76465432], [76468216, 76468304], [76470752, 76470905], [76471035, 76471272], [76472578, 76472701], [76476209, 76476331]]
ENST00000396423 [[76452103, 76452315], [76456045, 76456214], [76459821, 76459916], [76463622, 76463729], [76465276, 76465432], [76468216, 76468304], [76470752, 76470905], [76471035, 76471272], [76472578, 76472701], [76476209, 76479078]] [[76452227, 76452315], [76456045, 76456214], [76459821, 76459916], [76463622, 76463729], [76465276, 76465432], [76468216, 76468304], [76470752, 76470905], [76471035, 76471272], [76472578, 76472701], [76476209, 76476331]]
NM_001330561 [[76319904, 76320199], [76398019, 76398051], [76402323, 76402443], [76456045, 76456214], [76459821, 76459916], [76463622, 76463729], [76465276, 76465432], [76468216, 76468304], [76470752, 76470905], [76471035, 76471272], [76472578, 76472701], [76476209, 76479078]] [[76456068, 76456214], [76459821, 76459916], [76463622, 76463729], [76465276, 76465432], [76468216, 76468304], [76470752, 76470905], [76471035, 76471272], [76472578, 76472701], [76476209, 76476331]]
NM_004133 [[76452202, 76452315], [76456045, 76456214], [76459821, 76459916], [76463622, 76463729], [76465276, 76465432], [76468216, 76468304], [76470752, 76470905], [76471035, 76471272], [76472578, 76472701], [76476209, 76479069]] [[76452227, 76452315], [76456045, 76456214], [76459821, 76459916], [76463622, 76463729], [76465276, 76465432], [76468216, 76468304], [76470752, 76470905], [76471035, 76471272], [76472578, 76472701], [76476209, 76476331]]
Promoter
Chrom Start End Description
chr8 76319850 76319870 CAGE_peak_4_at_HNF4G_5end
chr8 76319876 76319926 CAGE_peak_1_at_HNF4G_5end
chr8 76452097 76452126 CAGE_peak_2_at_HNF4G_5end
chr8 76452129 76452159 CAGE_peak_5_at_HNF4G_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I075552 75552281 75555529 0.46 [{'connected_gene': 'HNF4G', 'score': 4.2}, {'connected_gene': 'GC08M075604', 'score': 0.23}, {'connected_gene': 'GC08P075474', 'score': 0.18}]
chr8 GH08I075575 75575120 75575916 0.31 [{'connected_gene': 'HNF4G', 'score': 4.26}, {'connected_gene': 'GC08M075604', 'score': 0.29}, {'connected_gene': 'GC08P075474', 'score': 0.15}]
chr8 GH08I075538 75538481 75543828 0.88 [{'connected_gene': 'HNF4G', 'score': 554.23}, {'connected_gene': 'GC08M075604', 'score': 0.21}, {'connected_gene': 'GC08P075474', 'score': 0.2}]
chr8 GH08I075425 75425676 75428459 0.4 [{'connected_gene': 'HNF4G', 'score': 4.45}, {'connected_gene': 'GC08M075436', 'score': 0.39}]
chr8 GH08I075402 75402146 75413626 1.9 [{'connected_gene': 'HNF4G', 'score': 557.28}, {'connected_gene': 'GC08M075436', 'score': 0.29}]
chr8 GH08I075418 75418419 75423346 0.92 [{'connected_gene': 'HNF4G', 'score': 5.19}, {'connected_gene': 'GC08M075436', 'score': 0.37}]
chr8 GH08I075483 75483297 75484873 0.69 [{'connected_gene': 'GC08P075474', 'score': 0.44}, {'connected_gene': 'HNF4G', 'score': 0.18}, {'connected_gene': 'GC08M075604', 'score': 0.13}]
chr8 GH08I075455 75455581 75462842 0.68 [{'connected_gene': 'GC08P075474', 'score': 0.37}, {'connected_gene': 'GC08M075436', 'score': 0.34}, {'connected_gene': 'HNF4G', 'score': 0.23}]
chr8 GH08I075475 75475185 75475726 0.31 [{'connected_gene': 'GC08P075474', 'score': 550.77}, {'connected_gene': 'HNF4G', 'score': 0.2}, {'connected_gene': 'GC08M075604', 'score': 0.12}]
chr8 GH08I075530 75530465 75530758 0.22 [{'connected_gene': 'GC08P075474', 'score': 0.22}, {'connected_gene': 'GC08M075604', 'score': 0.18}, {'connected_gene': 'HNF4G', 'score': 0.13}]
chr8 GH08I075502 75502772 75504296 0.49 [{'connected_gene': 'GC08P075474', 'score': 0.31}, {'connected_gene': 'HNF4G', 'score': 0.15}, {'connected_gene': 'GC08M075604', 'score': 0.15}]