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
ENST00000580787 [[10602331, 10602584], [10626586, 10626646], [10628327, 10628451]] [[10602508, 10602584], [10626586, 10626646], [10628327, 10628451]]
ENST00000341871 [[10616611, 10618905], [10626586, 10626646], [10628327, 10628451], [10629520, 10629581], [10632347, 10632377], [10633096, 10633633]] [[10618769, 10618905], [10626586, 10626646], [10628327, 10628451], [10629520, 10629581], [10632347, 10632377], [10633096, 10633168]]
ENST00000455996 [[10617992, 10618905], [10626586, 10626646], [10628327, 10628451], [10629520, 10629581], [10633096, 10633340]] [[10618769, 10618905], [10626586, 10626646], [10628327, 10628451], [10629520, 10629581], [10633096, 10633168]]
ENST00000578345 [[10618738, 10618905], [10628327, 10628451], [10629520, 10629581], [10633096, 10633303]] [[10618769, 10618905], [10628327, 10628451], [10629520, 10629581], [10633096, 10633168]]
ENST00000580186 [[10618742, 10618905], [10626586, 10626646], [10628327, 10628451], [10629520, 10629682]] None
ENST00000581949 [[10618746, 10618905], [10626586, 10626646], [10627771, 10627819], [10628327, 10628436]] [[10618769, 10618905], [10626586, 10626646], [10627771, 10627819], [10628327, 10628436]]
NM_001330139 [[10616611, 10618905], [10626586, 10626646], [10628327, 10628451], [10629520, 10629581], [10633096, 10633646]] [[10618769, 10618905], [10626586, 10626646], [10628327, 10628451], [10629520, 10629581], [10633096, 10633168]]
NM_001330140 [[10616611, 10618905], [10628327, 10628451], [10629520, 10629581], [10633096, 10633646]] [[10618769, 10618905], [10628327, 10628451], [10629520, 10629581], [10633096, 10633168]]
NM_001004313 [[10616638, 10618905], [10626586, 10626646], [10628327, 10628451], [10629520, 10629581], [10632347, 10632377], [10633096, 10633646]] [[10618769, 10618905], [10626586, 10626646], [10628327, 10628451], [10629520, 10629581], [10632347, 10632377], [10633096, 10633168]]
Promoter
Chrom Start End Description
chr17 10633174 10633199 CAGE_peak_3_at_TMEM220_5end
chr17 10633291 10633354 CAGE_peak_1_at_TMEM220_5end
chr17 10633535 10633539 CAGE_peak_2_at_TMEM220_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I010838 10838435 10838494 0.5 [{'connected_gene': 'PIRT', 'score': 550.77}, {'connected_gene': 'TMEM220', 'score': 4.79}, {'connected_gene': 'GC17P010841', 'score': 0.77}]
chr17 GH17I010836 10836780 10837993 0.4 [{'connected_gene': 'PIRT', 'score': 556.31}, {'connected_gene': 'TMEM220', 'score': 4.83}, {'connected_gene': 'GC17M010823', 'score': 0.39}]
chr17 GH17I010695 10695368 10701109 2.03 [{'connected_gene': 'ADPRM', 'score': 601.91}, {'connected_gene': 'SCO1', 'score': 550.77}, {'connected_gene': 'ENSG00000261433', 'score': 10.83}, {'connected_gene': 'MYH3', 'score': 6.46}, {'connected_gene': 'TMEM220', 'score': 0.29}]
chr17 GH17I010743 10743764 10743913 0.43 [{'connected_gene': 'ADPRM', 'score': 11.29}, {'connected_gene': 'SCO1', 'score': 11.29}, {'connected_gene': 'MYH3', 'score': 10.85}, {'connected_gene': 'ENSG00000240813', 'score': 0.77}, {'connected_gene': 'TMEM220-AS1', 'score': 0.39}, {'connected_gene': 'TMEM220', 'score': 0.39}, {'connected_gene': 'ENSG00000264016', 'score': 0.31}]
chr17 GH17I010744 10743382 10743715 0.43 [{'connected_gene': 'ADPRM', 'score': 11.29}, {'connected_gene': 'SCO1', 'score': 11.29}, {'connected_gene': 'MYH3', 'score': 10.85}, {'connected_gene': 'ENSG00000264016', 'score': 4.71}, {'connected_gene': 'ENSG00000240813', 'score': 0.77}, {'connected_gene': 'TMEM220-AS1', 'score': 0.39}, {'connected_gene': 'TMEM220', 'score': 0.39}]
chr17 GH17I010719 10719428 10720898 0.2 [{'connected_gene': 'ADPRM', 'score': 37.54}, {'connected_gene': 'MYH3', 'score': 10.65}, {'connected_gene': 'TMEM220', 'score': 8.4}, {'connected_gene': 'MAGOH2P', 'score': 0.77}, {'connected_gene': 'TMEM220-AS1', 'score': 0.44}]
chr17 GH17I010718 10718110 10719174 0.66 [{'connected_gene': 'ADPRM', 'score': 37.54}, {'connected_gene': 'MYH3', 'score': 10.87}, {'connected_gene': 'MAGOH2P', 'score': 0.77}, {'connected_gene': 'TMEM220-AS1', 'score': 0.39}, {'connected_gene': 'TMEM220', 'score': 0.39}]
chr17 GH17I010732 10732703 10734960 0.4 [{'connected_gene': 'ADPRM', 'score': 43.79}, {'connected_gene': 'TMEM220', 'score': 37.84}, {'connected_gene': 'SCO1', 'score': 11.96}, {'connected_gene': 'MYH3', 'score': 10.82}, {'connected_gene': 'TMEM220-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000240813', 'score': 0.39}]
chr17 GH17I010723 10723882 10727866 0.96 [{'connected_gene': 'ADPRM', 'score': 39.58}, {'connected_gene': 'TMEM220', 'score': 18.99}, {'connected_gene': 'MYH3', 'score': 10.63}, {'connected_gene': 'TMEM220-AS1', 'score': 0.77}, {'connected_gene': 'MAGOH2P', 'score': 0.44}]
chr17 GH17I010784 10784511 10787934 0.66 [{'connected_gene': 'ADPRM', 'score': 24.25}, {'connected_gene': 'RNU6-1065P', 'score': 11.31}, {'connected_gene': 'RPL15P21', 'score': 11.3}, {'connected_gene': 'MYH3', 'score': 10.58}, {'connected_gene': 'SCO1', 'score': 10.57}, {'connected_gene': 'TMEM220', 'score': 6.75}, {'connected_gene': 'TMEM220-AS1', 'score': 6.58}, {'connected_gene': 'GC17M010779', 'score': 0.44}, {'connected_gene': 'ENSG00000266114', 'score': 0.44}]
chr17 GH17I010755 10755004 10758648 1.26 [{'connected_gene': 'ADPRM', 'score': 30.59}, {'connected_gene': 'TMEM220-AS1', 'score': 6.43}, {'connected_gene': 'ENSG00000264016', 'score': 6.04}, {'connected_gene': 'TMEM220', 'score': 2.83}, {'connected_gene': 'PIRT', 'score': 2.07}, {'connected_gene': 'SHISA6', 'score': 1.81}, {'connected_gene': 'GC17M010753', 'score': 0.77}, {'connected_gene': 'ENSG00000240813', 'score': 0.39}]
chr17 GH17I010702 10702544 10703041 0.31 [{'connected_gene': 'TMEM220', 'score': 4.77}, {'connected_gene': 'SCO1', 'score': 0.77}, {'connected_gene': 'ADPRM', 'score': 0.44}, {'connected_gene': 'PIR53353', 'score': 0.44}]
chr17 GH17I010663 10663926 10665264 0.2 [{'connected_gene': 'TMEM220', 'score': 5.5}, {'connected_gene': 'ENSG00000261433', 'score': 0.44}, {'connected_gene': 'MYH3', 'score': 0.39}]
chr17 GH17I010668 10668412 10669648 0.58 [{'connected_gene': 'TMEM220', 'score': 5.43}, {'connected_gene': 'ENSG00000261433', 'score': 0.44}, {'connected_gene': 'MYH3', 'score': 0.39}]
chr17 GH17I010736 10736488 10740228 1.03 [{'connected_gene': 'TMEM220', 'score': 11.77}, {'connected_gene': 'RNU6-1065P', 'score': 11.68}, {'connected_gene': 'RPL15P21', 'score': 11.67}, {'connected_gene': 'SCO1', 'score': 11.55}, {'connected_gene': 'ADPRM', 'score': 11.53}, {'connected_gene': 'MYH3', 'score': 10.56}, {'connected_gene': 'TMEM220-AS1', 'score': 5.72}, {'connected_gene': 'ENSG00000264016', 'score': 4.88}, {'connected_gene': 'ENSG00000240813', 'score': 0.44}]
chr17 GH17I010728 10728358 10731951 2.04 [{'connected_gene': 'TMEM220', 'score': 589.38}, {'connected_gene': 'TMEM220-AS1', 'score': 555.28}, {'connected_gene': 'ADPRM', 'score': 47.08}, {'connected_gene': 'ENSG00000261433', 'score': 11.36}, {'connected_gene': 'MAGOH2P', 'score': 11.29}]
chr17 GH17I010715 10715948 10717410 0.8 [{'connected_gene': 'MAGOH2P', 'score': 550.77}, {'connected_gene': 'ADPRM', 'score': 38.13}, {'connected_gene': 'TMEM220-AS1', 'score': 0.39}, {'connected_gene': 'TMEM220', 'score': 0.39}]
chr17 GH17I010745 10744240 10746067 0.83 [{'connected_gene': 'ENSG00000240813', 'score': 550.77}, {'connected_gene': 'ADPRM', 'score': 11.29}, {'connected_gene': 'SCO1', 'score': 11.29}, {'connected_gene': 'MYH3', 'score': 10.9}, {'connected_gene': 'ENSG00000264016', 'score': 4.85}, {'connected_gene': 'TMEM220-AS1', 'score': 4.76}, {'connected_gene': 'TMEM220', 'score': 0.39}]