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
ENST00000282369 [[114460458, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114499214, 114499449], [114515671, 114515856]] [[114462199, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114499214, 114499449], [114515671, 114515734]]
ENST00000513154 [[114460459, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114499214, 114499449], [114505304, 114505658]] [[114462199, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114499214, 114499449], [114505304, 114505331]]
ENST00000514154 [[114462199, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114515671, 114515734]] [[114462199, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114482924]]
ENST00000513485 [[114477020, 114477071], [114480294, 114480441], [114482765, 114483091], [114489401, 114489508]] None
ENST00000515104 [[114482764, 114483091], [114499214, 114499449], [114504663, 114504783], [114505304, 114505427]] None
ENST00000510222 [[114482765, 114483091], [114505304, 114505563]] None
ENST00000508894 [[114482872, 114483091], [114495337, 114495367], [114499214, 114499449], [114505304, 114505606]] [[114482872, 114483091], [114495337, 114495367], [114499214, 114499449], [114505304, 114505331]]
ENST00000379618 [[114506798, 114506919], [114515671, 114516243]] [[114506799, 114506919], [114515671, 114515734]]
ENST00000511701 [[114506802, 114506919], [114509785, 114509978]] None
ENST00000379617 [[114512819, 114513569], [114515671, 114516243]] [[114513446, 114513569], [114515671, 114515734]]
NM_001300759 [[114460458, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114499214, 114499449], [114505304, 114505660]] [[114462199, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114499214, 114499449], [114505304, 114505331]]
NM_018700 [[114460458, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114499214, 114499449], [114515671, 114516243]] [[114462199, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114499214, 114499449], [114515671, 114515734]]
NM_001300752 [[114460458, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114483091], [114515671, 114516243]] [[114462199, 114462554], [114466288, 114466586], [114469556, 114469844], [114472696, 114472821], [114473059, 114473313], [114476975, 114477071], [114480294, 114480441], [114482765, 114482924]]
NM_001017397 [[114506798, 114506919], [114515671, 114516243]] [[114506799, 114506919], [114515671, 114515734]]
NM_001017398 [[114513235, 114513569], [114515671, 114516243]] [[114513446, 114513569], [114515671, 114515734]]
Promoter
Chrom Start End Description
chr5 114505591 114505614 CAGE_peak_1_at_TRIM36_5end
chr5 114505624 114505637 CAGE_peak_3_at_TRIM36_5end
chr5 114515936 114515944 CAGE_peak_11_at_TRIM36_5end
chr5 114515949 114516006 CAGE_peak_2_at_TRIM36_5end
chr5 114516014 114516025 CAGE_peak_5_at_TRIM36_5end
chr5 114516029 114516046 CAGE_peak_4_at_TRIM36_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I115422 115422593 115424882 0.8 [{'connected_gene': 'FEM1C', 'score': 5.95}, {'connected_gene': 'TRIM36', 'score': 4.41}, {'connected_gene': 'AK3P4', 'score': 0.34}, {'connected_gene': 'GC05M115471', 'score': 0.21}]
chr5 GH05I115208 115208801 115209999 0.94 [{'connected_gene': 'TRIM36', 'score': 11.1}, {'connected_gene': 'PGGT1B', 'score': 7.89}, {'connected_gene': 'GC05M115205', 'score': 0.77}, {'connected_gene': 'ENSG00000271797', 'score': 0.23}]
chr5 GH05I115242 115242529 115244090 0.52 [{'connected_gene': 'TRIM36', 'score': 10.43}, {'connected_gene': 'TICAM2', 'score': 9.18}, {'connected_gene': 'LOC101927100', 'score': 9.18}, {'connected_gene': 'TMED7-TICAM2', 'score': 9.17}, {'connected_gene': 'ENSG00000271797', 'score': 0.37}, {'connected_gene': 'PGGT1B', 'score': 0.37}, {'connected_gene': 'GC05M115205', 'score': 0.28}]
chr5 GH05I115169 115169000 115171488 2.27 [{'connected_gene': 'TRIM36', 'score': 555.31}, {'connected_gene': 'CCDC112', 'score': 1.55}, {'connected_gene': 'TRIM36-IT1', 'score': 0.34}]
chr5 GH05I115348 115348668 115350478 1 [{'connected_gene': 'TRIM36', 'score': 5.38}, {'connected_gene': 'LOC105379130', 'score': 0.34}, {'connected_gene': 'LOC105379129', 'score': 0.23}]
chr5 GH05I115351 115351401 115352000 0.86 [{'connected_gene': 'TRIM36', 'score': 4.46}, {'connected_gene': 'LOC105379130', 'score': 0.37}, {'connected_gene': 'LOC105379129', 'score': 0.23}]
chr5 GH05I115180 115180000 115180401 1.57 [{'connected_gene': 'TRIM36', 'score': 550.77}, {'connected_gene': 'TRIM36-IT1', 'score': 0.29}]
chr5 GH05I115181 115180563 115180622 1.06 [{'connected_gene': 'TRIM36', 'score': 557.39}, {'connected_gene': 'ENSG00000249791', 'score': 0.44}]
chr5 GH05I115149 115149594 115149653 0.5 [{'connected_gene': 'TRIM36-IT1', 'score': 550.77}, {'connected_gene': 'TRIM36', 'score': 550.29}, {'connected_gene': 'ENSG00000250242', 'score': 0.21}]