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
ENST00000233969 [[103236165, 103236596], [103274022, 103274486], [103281558, 103281809], [103299719, 103299937], [103300592, 103300795], [103310872, 103310962], [103311501, 103311572], [103317528, 103317690], [103318864, 103318961], [103321002, 103321134], [103322304, 103322395], [103324577, 103327777]] [[103236307, 103236596], [103274022, 103274486], [103281558, 103281809], [103299719, 103299937], [103300592, 103300795], [103310872, 103310962], [103311501, 103311572], [103317528, 103317690], [103318864, 103318961], [103321002, 103321134], [103322304, 103322395], [103324577, 103324948]]
ENST00000467657 [[103300756, 103300795], [103302868, 103303227]] None
ENST00000469286 [[103306152, 103306249], [103310872, 103310962], [103311501, 103311572], [103313808, 103313926], [103317528, 103317690], [103318864, 103318910]] None
NM_003048 [[103235992, 103236596], [103274022, 103274486], [103281558, 103281809], [103299719, 103299937], [103300592, 103300795], [103310872, 103310962], [103311501, 103311572], [103317528, 103317690], [103318864, 103318961], [103321002, 103321134], [103322304, 103322395], [103324577, 103327809]] [[103236307, 103236596], [103274022, 103274486], [103281558, 103281809], [103299719, 103299937], [103300592, 103300795], [103310872, 103310962], [103311501, 103311572], [103317528, 103317690], [103318864, 103318961], [103321002, 103321134], [103322304, 103322395], [103324577, 103324948]]
Promoter
Chrom Start End Description
chr2 103235775 103235794 CAGE_peak_2_at_SLC9A2_5end
chr2 103236004 103236041 CAGE_peak_1_at_SLC9A2_5end
chr2 103306149 103306154 CAGE_peak_9_at_SLC9A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I102532 102532285 102532871 0.2 [{'connected_gene': 'IL1RL1', 'score': 6.27}, {'connected_gene': 'IL18R1', 'score': 6.07}, {'connected_gene': 'GC02M102503', 'score': 0.37}, {'connected_gene': 'SLC9A4', 'score': 0.22}, {'connected_gene': 'SLC9A2', 'score': 0.17}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102530 102530108 102530757 0.2 [{'connected_gene': 'IL1RL1', 'score': 6.28}, {'connected_gene': 'SLC9A4', 'score': 5.91}, {'connected_gene': 'GC02M102503', 'score': 0.37}, {'connected_gene': 'SLC9A2', 'score': 0.17}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102636 102636349 102637358 0.52 [{'connected_gene': 'IL18R1', 'score': 4.57}, {'connected_gene': 'SLC9A2', 'score': 0.37}, {'connected_gene': 'MFSD9', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102523 102523568 102525459 0.51 [{'connected_gene': 'IL18RAP', 'score': 21.1}, {'connected_gene': 'IL1RL1', 'score': 5.99}, {'connected_gene': 'ENSG00000234389', 'score': 5.6}, {'connected_gene': 'GC02M102503', 'score': 0.44}, {'connected_gene': 'SLC9A4', 'score': 0.23}, {'connected_gene': 'SLC9A2', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102487 102487128 102488911 1.31 [{'connected_gene': 'IL18RAP', 'score': 32.01}, {'connected_gene': 'IL1R2', 'score': 24.0}, {'connected_gene': 'SLC9A2', 'score': 10.73}, {'connected_gene': 'IL18R1', 'score': 9.73}, {'connected_gene': 'IL1R1', 'score': 6.08}, {'connected_gene': 'SLC9A4', 'score': 5.22}, {'connected_gene': 'GC02M102503', 'score': 0.31}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102540 102540255 102542636 0.76 [{'connected_gene': 'IL18RAP', 'score': 20.78}, {'connected_gene': 'SLC9A2', 'score': 10.63}, {'connected_gene': 'SLC9A4', 'score': 10.57}, {'connected_gene': 'ENSG00000234389', 'score': 5.68}, {'connected_gene': 'GC02M102503', 'score': 0.31}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102479 102477548 102478088 0.2 [{'connected_gene': 'IL18RAP', 'score': 22.71}, {'connected_gene': 'SLC9A2', 'score': 10.8}, {'connected_gene': 'SLC9A4', 'score': 0.77}, {'connected_gene': 'GC02M102503', 'score': 0.28}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102507 102507160 102507694 0.31 [{'connected_gene': 'IL18RAP', 'score': 21.48}, {'connected_gene': 'SLC9A4', 'score': 11.46}, {'connected_gene': 'SLC9A2', 'score': 11.12}, {'connected_gene': 'IL18R1', 'score': 6.22}, {'connected_gene': 'ENSG00000234389', 'score': 5.49}, {'connected_gene': 'GC02M102503', 'score': 0.44}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102498 102498724 102499345 0.31 [{'connected_gene': 'IL18RAP', 'score': 13.5}, {'connected_gene': 'SLC9A4', 'score': 12.39}, {'connected_gene': 'SLC9A2', 'score': 11.36}, {'connected_gene': 'GC02M102503', 'score': 0.37}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102504 102504291 102506131 0.82 [{'connected_gene': 'IL18RAP', 'score': 13.94}, {'connected_gene': 'SLC9A4', 'score': 11.46}, {'connected_gene': 'SLC9A2', 'score': 11.12}, {'connected_gene': 'ENSG00000234389', 'score': 7.31}, {'connected_gene': 'GC02M102503', 'score': 0.44}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102508 102508998 102509550 0.31 [{'connected_gene': 'IL18RAP', 'score': 20.84}, {'connected_gene': 'SLC9A4', 'score': 17.13}, {'connected_gene': 'SLC9A2', 'score': 11.12}, {'connected_gene': 'GC02M102503', 'score': 0.44}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102522 102522815 102523312 0.2 [{'connected_gene': 'IL18RAP', 'score': 20.48}, {'connected_gene': 'GC02M102503', 'score': 0.44}, {'connected_gene': 'SLC9A4', 'score': 0.25}, {'connected_gene': 'SLC9A2', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102517 102517934 102518318 0.31 [{'connected_gene': 'IL18RAP', 'score': 13.14}, {'connected_gene': 'GC02M102503', 'score': 0.77}, {'connected_gene': 'SLC9A4', 'score': 0.26}, {'connected_gene': 'SLC9A2', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102521 102521177 102522153 0.2 [{'connected_gene': 'IL18RAP', 'score': 20.46}, {'connected_gene': 'SLC9A4', 'score': 5.93}, {'connected_gene': 'GC02M102503', 'score': 0.44}, {'connected_gene': 'SLC9A2', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102519 102519706 102520524 0.6 [{'connected_gene': 'IL18RAP', 'score': 20.86}, {'connected_gene': 'ENSG00000234389', 'score': 6.9}, {'connected_gene': 'GC02M102503', 'score': 0.44}, {'connected_gene': 'SLC9A4', 'score': 0.25}, {'connected_gene': 'SLC9A2', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102735 102735397 102737749 1.99 [{'connected_gene': 'MFSD9', 'score': 550.77}, {'connected_gene': 'TMEM182', 'score': 550.77}, {'connected_gene': 'SLC9A2', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102480 102480449 102480821 0.58 [{'connected_gene': 'IL1R2', 'score': 37.35}, {'connected_gene': 'IL18RAP', 'score': 17.43}, {'connected_gene': 'SLC9A2', 'score': 10.8}, {'connected_gene': 'IL18R1', 'score': 2.86}, {'connected_gene': 'IL1R1', 'score': 2.59}, {'connected_gene': 'SLC9A4', 'score': 0.44}, {'connected_gene': 'GC02M102503', 'score': 0.29}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102489 102489665 102490024 0.44 [{'connected_gene': 'IL1R2', 'score': 53.97}, {'connected_gene': 'IL18RAP', 'score': 22.96}, {'connected_gene': 'SLC9A2', 'score': 10.75}, {'connected_gene': 'IL18R1', 'score': 2.75}, {'connected_gene': 'IL1R1', 'score': 2.38}, {'connected_gene': 'SLC9A4', 'score': 0.37}, {'connected_gene': 'GC02M102503', 'score': 0.34}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102663 102663295 102665274 1.33 [{'connected_gene': 'SLC9A2', 'score': 14.03}, {'connected_gene': 'IL1RL2', 'score': 3.79}, {'connected_gene': 'MFSD9', 'score': 0.19}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102484 102484574 102485841 0.57 [{'connected_gene': 'SLC9A2', 'score': 10.77}, {'connected_gene': 'IL18RAP', 'score': 9.59}, {'connected_gene': 'ENSG00000234389', 'score': 6.99}, {'connected_gene': 'SLC9A4', 'score': 5.02}, {'connected_gene': 'GC02M102503', 'score': 0.31}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102660 102660067 102660526 0.65 [{'connected_gene': 'SLC9A2', 'score': 10.97}, {'connected_gene': 'MFSD9', 'score': 0.18}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102633 102633573 102633624 0.2 [{'connected_gene': 'SLC9A2', 'score': 0.39}, {'connected_gene': 'MFSD9', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102637 102637462 102637524 0.31 [{'connected_gene': 'SLC9A2', 'score': 0.37}, {'connected_gene': 'MFSD9', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102632 102632502 102632651 0.46 [{'connected_gene': 'SLC9A2', 'score': 0.39}, {'connected_gene': 'MFSD9', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102654 102654202 102654351 0.57 [{'connected_gene': 'SLC9A2', 'score': 11.54}, {'connected_gene': 'MFSD9', 'score': 0.18}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102618 102618507 102621225 1.87 [{'connected_gene': 'SLC9A2', 'score': 569.54}, {'connected_gene': 'SLC9A4', 'score': 10.46}, {'connected_gene': 'ENSG00000236525', 'score': 5.12}, {'connected_gene': 'IL18RAP', 'score': 4.26}, {'connected_gene': 'MFSD9', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102708 102708982 102709111 0.56 [{'connected_gene': 'SLC9A2', 'score': 10.96}, {'connected_gene': 'SLC9A4', 'score': 10.68}, {'connected_gene': 'MFSD9', 'score': 0.31}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102698 102698562 102698611 0.56 [{'connected_gene': 'SLC9A2', 'score': 11.34}, {'connected_gene': 'SLC9A4', 'score': 10.46}, {'connected_gene': 'MFSD9', 'score': 0.28}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102478 102478278 102480147 0.38 [{'connected_gene': 'SLC9A2', 'score': 10.8}, {'connected_gene': 'SLC9A4', 'score': 6.63}, {'connected_gene': 'GC02M102503', 'score': 0.28}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102483 102483016 102483558 0.2 [{'connected_gene': 'SLC9A2', 'score': 10.78}, {'connected_gene': 'ENSG00000234389', 'score': 7.19}, {'connected_gene': 'SLC9A4', 'score': 0.39}, {'connected_gene': 'GC02M102503', 'score': 0.29}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102603 102603875 102605447 0.84 [{'connected_gene': 'SLC9A2', 'score': 14.83}, {'connected_gene': 'SLC9A4', 'score': 10.67}, {'connected_gene': 'GC02M102503', 'score': 0.17}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102581 102581908 102582400 0.43 [{'connected_gene': 'SLC9A2', 'score': 11.59}, {'connected_gene': 'SLC9A4', 'score': 11.27}, {'connected_gene': 'GC02M102503', 'score': 0.2}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102502 102502352 102503280 0.2 [{'connected_gene': 'SLC9A4', 'score': 16.25}, {'connected_gene': 'IL18RAP', 'score': 13.53}, {'connected_gene': 'SLC9A2', 'score': 11.11}, {'connected_gene': 'ENSG00000234389', 'score': 7.11}, {'connected_gene': 'GC02M102503', 'score': 0.39}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102538 102538489 102538977 0.2 [{'connected_gene': 'SLC9A4', 'score': 16.25}, {'connected_gene': 'SLC9A2', 'score': 10.63}, {'connected_gene': 'IL18R1', 'score': 6.09}, {'connected_gene': 'GC02M102503', 'score': 0.34}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102511 102510911 102511045 0.22 [{'connected_gene': 'SLC9A4', 'score': 11.45}, {'connected_gene': 'SLC9A2', 'score': 11.13}, {'connected_gene': 'IL18RAP', 'score': 9.62}, {'connected_gene': 'IL1R1', 'score': 5.16}, {'connected_gene': 'IL18R1', 'score': 2.64}, {'connected_gene': 'GC02M102503', 'score': 0.77}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102621 102621762 102621911 0.49 [{'connected_gene': 'SLC9A4', 'score': 10.46}, {'connected_gene': 'SLC9A2', 'score': 0.77}, {'connected_gene': 'MFSD9', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102509 102509820 102510064 0.42 [{'connected_gene': 'SLC9A4', 'score': 11.45}, {'connected_gene': 'SLC9A2', 'score': 11.13}, {'connected_gene': 'IL1R1', 'score': 4.9}, {'connected_gene': 'GC02M102503', 'score': 0.77}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102606 102606422 102606651 0.52 [{'connected_gene': 'SLC9A4', 'score': 10.67}, {'connected_gene': 'SLC9A2', 'score': 5.72}, {'connected_gene': 'GC02M102503', 'score': 0.16}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102510 102510286 102510627 0.31 [{'connected_gene': 'SLC9A4', 'score': 11.45}, {'connected_gene': 'SLC9A2', 'score': 11.13}, {'connected_gene': 'GC02M102503', 'score': 0.77}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102585 102585790 102586963 0.64 [{'connected_gene': 'SLC9A4', 'score': 11.25}, {'connected_gene': 'SLC9A2', 'score': 10.63}, {'connected_gene': 'GC02M102503', 'score': 0.19}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102591 102591782 102591931 0.31 [{'connected_gene': 'SLC9A4', 'score': 11.9}, {'connected_gene': 'SLC9A2', 'score': 11.59}, {'connected_gene': 'GC02M102503', 'score': 0.18}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102024 102024151 102028508 1.15 [{'connected_gene': 'ENSG00000226925', 'score': 10.98}, {'connected_gene': 'IL1RL2', 'score': 10.73}, {'connected_gene': 'SLC9A2', 'score': 9.17}, {'connected_gene': 'IL1R2', 'score': 8.2}, {'connected_gene': 'IL1R1', 'score': 0.28}, {'connected_gene': 'GC02P101903', 'score': 0.13}]
chr2 GH02I102515 102515569 102516227 0.38 [{'connected_gene': 'GC02M102503', 'score': 550.77}, {'connected_gene': 'IL18RAP', 'score': 20.51}, {'connected_gene': 'SLC9A2', 'score': 17.77}, {'connected_gene': 'SLC9A4', 'score': 16.45}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102513 102513218 102515074 1.14 [{'connected_gene': 'GC02M102503', 'score': 550.77}, {'connected_gene': 'IL18RAP', 'score': 20.74}, {'connected_gene': 'SLC9A4', 'score': 11.55}, {'connected_gene': 'SLC9A2', 'score': 10.93}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102520 102520621 102521150 0.43 [{'connected_gene': 'GC02M102503', 'score': 0.44}, {'connected_gene': 'SLC9A4', 'score': 0.25}, {'connected_gene': 'SLC9A2', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.03}]

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