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
ENST00000367638 [[178511886, 178512020], [178514009, 178514163], [178514347, 178514635]] [[178514055, 178514163], [178514347, 178514560]]
ENST00000521244 [[178511930, 178512020], [178514347, 178515038], [178516228, 178518024]] None
ENST00000319387 [[178514055, 178514163], [178514347, 178515038], [178516228, 178518024]] [[178514055, 178514163], [178514347, 178514560]]
NR_033186 [[178511930, 178512020], [178514347, 178515038], [178516228, 178518024]] None
Promoter
Chrom Start End Description
chr1 178511876 178511946 CAGE_peak_1_at_C1orf220_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I178789 178789797 178790134 0.42 [{'connected_gene': 'FAM20B', 'score': 10.95}, {'connected_gene': 'C1orf220', 'score': 10.39}, {'connected_gene': 'ANGPTL1', 'score': 5.65}, {'connected_gene': 'GC01M178803', 'score': 0.37}, {'connected_gene': 'ENSG00000201791', 'score': 0.28}, {'connected_gene': 'GC01M178756', 'score': 0.28}, {'connected_gene': 'RALGPS2', 'score': 0.21}]
chr1 GH01I178790 178790635 178804476 0.6 [{'connected_gene': 'ANGPTL1', 'score': 18.89}, {'connected_gene': 'FAM20B', 'score': 10.96}, {'connected_gene': 'C1orf220', 'score': 10.9}, {'connected_gene': 'CLEC20A', 'score': 4.81}, {'connected_gene': 'CRYZL2P', 'score': 4.78}, {'connected_gene': 'RALGPS2', 'score': 4.31}, {'connected_gene': 'GC01M178803', 'score': 0.44}, {'connected_gene': 'ENSG00000201791', 'score': 0.26}, {'connected_gene': 'GC01M178756', 'score': 0.26}]
chr1 GH01I178897 178897062 178903769 0.38 [{'connected_gene': 'ANGPTL1', 'score': 18.64}, {'connected_gene': 'C1orf220', 'score': 9.92}, {'connected_gene': 'CRYZL2P', 'score': 4.85}, {'connected_gene': 'RALGPS2', 'score': 4.25}, {'connected_gene': 'LOC102724754', 'score': 0.28}]
chr1 GH01I178766 178766015 178773716 0.69 [{'connected_gene': 'ANGPTL1', 'score': 16.58}, {'connected_gene': 'C1orf220', 'score': 11.33}, {'connected_gene': 'CRYZL2P', 'score': 4.72}, {'connected_gene': 'RALGPS2', 'score': 4.66}, {'connected_gene': 'ENSG00000201791', 'score': 0.37}, {'connected_gene': 'GC01M178756', 'score': 0.37}, {'connected_gene': 'GC01M178803', 'score': 0.28}]
chr1 GH01I178822 178822686 178827279 0.31 [{'connected_gene': 'ANGPTL1', 'score': 17.19}, {'connected_gene': 'C1orf220', 'score': 10.29}, {'connected_gene': 'GC01M178803', 'score': 0.37}, {'connected_gene': 'RALGPS2', 'score': 0.15}]
chr1 GH01I178904 178904741 178908751 0.2 [{'connected_gene': 'ANGPTL1', 'score': 18.25}, {'connected_gene': 'C1orf220', 'score': 9.91}, {'connected_gene': 'ENSG00000273062', 'score': 6.9}, {'connected_gene': 'LOC102724754', 'score': 0.29}, {'connected_gene': 'RALGPS2', 'score': 0.09}]
chr1 GH01I178588 178588104 178589809 0.38 [{'connected_gene': 'TEX35', 'score': 7.95}, {'connected_gene': 'RALGPS2', 'score': 7.83}, {'connected_gene': 'C1orf220', 'score': 6.56}, {'connected_gene': 'LOC105371632', 'score': 0.44}, {'connected_gene': 'GC01P178598', 'score': 0.44}]
chr1 GH01I178618 178618313 178620652 0.43 [{'connected_gene': 'TEX35', 'score': 11.93}, {'connected_gene': 'RALGPS2', 'score': 8.81}, {'connected_gene': 'CLEC20A', 'score': 5.37}, {'connected_gene': 'C1orf220', 'score': 4.83}, {'connected_gene': 'GC01P178598', 'score': 0.34}, {'connected_gene': 'GC01M178650', 'score': 0.29}]
chr1 GH01I178560 178560209 178569337 0.74 [{'connected_gene': 'TEX35', 'score': 14.69}, {'connected_gene': 'C1orf220', 'score': 11.82}, {'connected_gene': 'ENSG00000201791', 'score': 11.02}, {'connected_gene': 'CLEC20A', 'score': 5.34}, {'connected_gene': 'RALGPS2', 'score': 4.99}, {'connected_gene': 'CRYZL2P', 'score': 3.94}, {'connected_gene': 'RNA5SP69', 'score': 0.77}, {'connected_gene': 'GC01P178561', 'score': 0.77}, {'connected_gene': 'GC01P178569', 'score': 0.77}, {'connected_gene': 'LOC105371632', 'score': 0.37}]
chr1 GH01I178592 178592874 178595307 0.2 [{'connected_gene': 'TEX35', 'score': 14.01}, {'connected_gene': 'C1orf220', 'score': 8.18}, {'connected_gene': 'GC01P178598', 'score': 0.77}, {'connected_gene': 'LOC105371632', 'score': 0.39}]
chr1 GH01I178536 178536310 178539614 1.05 [{'connected_gene': 'TEX35', 'score': 14.14}, {'connected_gene': 'C1orf220', 'score': 5.51}, {'connected_gene': 'GC01M178539', 'score': 0.77}, {'connected_gene': 'LOC105371631', 'score': 0.44}]
chr1 GH01I178549 178549280 178553745 0.77 [{'connected_gene': 'TEX35', 'score': 14.73}, {'connected_gene': 'CLEC20A', 'score': 9.95}, {'connected_gene': 'FAM20B', 'score': 9.92}, {'connected_gene': 'RALGPS2', 'score': 4.79}, {'connected_gene': 'GC01P178561', 'score': 0.44}, {'connected_gene': 'C1orf220', 'score': 0.44}]
chr1 GH01I179016 179016242 179019423 1.41 [{'connected_gene': 'TOR3A', 'score': 13.85}, {'connected_gene': 'FAM20B', 'score': 13.29}, {'connected_gene': 'C1orf220', 'score': 10.62}, {'connected_gene': 'GC01P179007', 'score': 0.39}]
chr1 GH01I179021 179021520 179022616 0.8 [{'connected_gene': 'TOR3A', 'score': 14.53}, {'connected_gene': 'C1orf220', 'score': 10.36}, {'connected_gene': 'FAM20B', 'score': 5.59}, {'connected_gene': 'GC01P179007', 'score': 0.39}]
chr1 GH01I178603 178603752 178614733 1.46 [{'connected_gene': 'RALGPS2', 'score': 25.34}, {'connected_gene': 'TEX35', 'score': 14.63}, {'connected_gene': 'C1orf220', 'score': 11.47}, {'connected_gene': 'TOR3A', 'score': 5.53}, {'connected_gene': 'GC01P178598', 'score': 0.39}, {'connected_gene': 'GC01M178650', 'score': 0.26}]
chr1 GH01I178884 178884040 178887762 0.54 [{'connected_gene': 'C1orf220', 'score': 10.1}, {'connected_gene': 'ANGPTL1', 'score': 5.47}, {'connected_gene': 'CRYZL2P', 'score': 4.98}, {'connected_gene': 'RALGPS2', 'score': 4.05}, {'connected_gene': 'LOC102724754', 'score': 0.23}]
chr1 GH01I178755 178755216 178758590 0.38 [{'connected_gene': 'C1orf220', 'score': 11.2}, {'connected_gene': 'ENSG00000273062', 'score': 7.39}, {'connected_gene': 'ANGPTL1', 'score': 5.13}, {'connected_gene': 'ENSG00000201791', 'score': 0.77}, {'connected_gene': 'GC01M178756', 'score': 0.77}, {'connected_gene': 'RALGPS2', 'score': 0.29}, {'connected_gene': 'GC01M178803', 'score': 0.25}]
chr1 GH01I178540 178540203 178545793 1.94 [{'connected_gene': 'C1orf220', 'score': 556.56}, {'connected_gene': 'GC01M178539', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 16.43}, {'connected_gene': 'RALGPS2', 'score': 4.96}, {'connected_gene': 'GC01P178561', 'score': 0.37}]
chr1 GH01I179002 179002294 179004756 1.09 [{'connected_gene': 'C1orf220', 'score': 11.79}, {'connected_gene': 'TOR3A', 'score': 11.49}, {'connected_gene': 'FAM20B', 'score': 4.77}, {'connected_gene': 'GC01P179007', 'score': 0.77}, {'connected_gene': 'LOC102724754', 'score': 0.21}]
chr1 GH01I178642 178642973 178647325 0.93 [{'connected_gene': 'C1orf220', 'score': 10.65}, {'connected_gene': 'RALGPS2', 'score': 6.98}, {'connected_gene': 'CLEC20A', 'score': 4.77}, {'connected_gene': 'GC01M178650', 'score': 0.44}, {'connected_gene': 'GC01P178598', 'score': 0.25}]
chr1 GH01I178632 178632108 178635172 0.63 [{'connected_gene': 'C1orf220', 'score': 15.0}, {'connected_gene': 'RALGPS2', 'score': 8.7}, {'connected_gene': 'GC01M178650', 'score': 0.37}, {'connected_gene': 'GC01P178598', 'score': 0.29}]
chr1 GH01I178322 178322726 178324058 0.31 [{'connected_gene': 'C1orf220', 'score': 9.94}, {'connected_gene': 'CLEC20A', 'score': 9.71}, {'connected_gene': 'RASAL2', 'score': 7.66}, {'connected_gene': 'CRYZL2P', 'score': 4.57}, {'connected_gene': 'LOC105371629', 'score': 0.37}, {'connected_gene': 'ENSG00000270575', 'score': 0.13}]
chr1 GH01I178324 178324066 178324215 0.38 [{'connected_gene': 'C1orf220', 'score': 9.94}, {'connected_gene': 'CLEC20A', 'score': 9.71}, {'connected_gene': 'LOC105371629', 'score': 0.37}, {'connected_gene': 'ENSG00000270575', 'score': 0.13}, {'connected_gene': 'RASAL2', 'score': 0.07}]
chr1 GH01I178279 178279401 178279600 0.2 [{'connected_gene': 'C1orf220', 'score': 4.21}, {'connected_gene': 'LOC105371629', 'score': 0.21}, {'connected_gene': 'ENSG00000270575', 'score': 0.18}, {'connected_gene': 'RASAL2', 'score': 0.09}]
chr1 GH01I178655 178655846 178655995 0.69 [{'connected_gene': 'C1orf220', 'score': 10.34}, {'connected_gene': 'ENSG00000273384', 'score': 0.77}, {'connected_gene': 'MIR4424', 'score': 0.34}]
chr1 GH01I178299 178299606 178300762 0.87 [{'connected_gene': 'CLEC20A', 'score': 11.51}, {'connected_gene': 'C1orf220', 'score': 10.51}, {'connected_gene': 'RASAL2', 'score': 7.9}, {'connected_gene': 'CRYZL2P', 'score': 4.57}, {'connected_gene': 'LOC105371629', 'score': 0.26}, {'connected_gene': 'ENSG00000270575', 'score': 0.14}]
chr1 GH01I178310 178310746 178310995 0.77 [{'connected_gene': 'CLEC20A', 'score': 10.75}, {'connected_gene': 'C1orf220', 'score': 10.33}, {'connected_gene': 'LOC105371629', 'score': 0.29}, {'connected_gene': 'ENSG00000270575', 'score': 0.13}, {'connected_gene': 'RASAL2', 'score': 0.08}]
chr1 GH01I178311 178311000 178311200 0.69 [{'connected_gene': 'CLEC20A', 'score': 10.75}, {'connected_gene': 'C1orf220', 'score': 10.33}, {'connected_gene': 'LOC105371629', 'score': 0.29}, {'connected_gene': 'ENSG00000270575', 'score': 0.13}, {'connected_gene': 'RASAL2', 'score': 0.08}]
chr1 GH01I178580 178580643 178582331 1.05 [{'connected_gene': 'LOC105371632', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 14.66}, {'connected_gene': 'C1orf220', 'score': 11.43}, {'connected_gene': 'RALGPS2', 'score': 10.08}, {'connected_gene': 'GC01P178598', 'score': 0.37}]
chr1 GH01I178598 178598429 178600778 0.38 [{'connected_gene': 'GC01P178598', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 15.62}, {'connected_gene': 'C1orf220', 'score': 15.26}, {'connected_gene': 'RALGPS2', 'score': 5.06}, {'connected_gene': 'GC01M178650', 'score': 0.23}]
chr1 GH01I178574 178574392 178574857 0.74 [{'connected_gene': 'GC01M178575', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 14.67}, {'connected_gene': 'C1orf220', 'score': 11.77}, {'connected_gene': 'ENSG00000201791', 'score': 11.03}, {'connected_gene': 'LOC105371632', 'score': 0.44}, {'connected_gene': 'GC01P178569', 'score': 0.44}]
chr1 GH01I178650 178650566 178653916 0.76 [{'connected_gene': 'GC01M178650', 'score': 550.77}, {'connected_gene': 'ENSG00000273384', 'score': 550.77}, {'connected_gene': 'RALGPS2', 'score': 13.02}, {'connected_gene': 'C1orf220', 'score': 11.01}, {'connected_gene': 'ANGPTL1', 'score': 4.35}, {'connected_gene': 'MIR4424', 'score': 0.31}]
chr1 GH01I178575 178575332 178576675 0.94 [{'connected_gene': 'GC01M178575', 'score': 550.77}, {'connected_gene': 'C1orf220', 'score': 18.11}, {'connected_gene': 'TEX35', 'score': 14.11}, {'connected_gene': 'ENSG00000201791', 'score': 11.03}, {'connected_gene': 'LOC105371632', 'score': 0.77}, {'connected_gene': 'GC01P178569', 'score': 0.44}]