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
ENST00000335606 [[33986282, 33989607], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008213]] [[33989197, 33989607], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008124]]
ENST00000382072 [[33987278, 33989607], [33998745, 33998932], [34005860, 34006004], [34007877, 34008136]] [[33989588, 33989607], [33998745, 33998932], [34005860, 34006004], [34007877, 34008124]]
ENST00000506639 [[33988188, 33989607], [33994052, 33994225], [33998745, 33998932], [34005860, 34006004], [34007877, 34008136]] [[33994113, 33994225], [33998745, 33998932], [34005860, 34006004], [34007877, 34008124]]
ENST00000514195 [[33988188, 33989607], [33994182, 33994225], [33998745, 33998932], [34005860, 34006004], [34007877, 34008136]] None
ENST00000382085 [[33988411, 33988466], [33989215, 33989607], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008133]] [[33988412, 33988466], [33989215, 33989607], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008124]]
ENST00000502637 [[33988788, 33989607], [33998745, 33998887], [34004678, 34004839], [34005860, 34006004], [34007877, 34008209]] [[33989197, 33989607], [33998745, 33998887], [34004678, 34004839], [34005860, 34006004], [34007877, 34008124]]
ENST00000441713 [[33994113, 33994225], [33998745, 33998932], [34005860, 34006004], [34007877, 34008220]] [[33994113, 33994225], [33998745, 33998932], [34005860, 34006004], [34007877, 34008124]]
ENST00000426255 [[33997111, 33997623], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008189]] [[33997495, 33997623], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008124]]
ENST00000512079 [[33997308, 33997418], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008133]] [[33997374, 33997418], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008124]]
ENST00000382068 [[33997348, 33997623], [33998745, 33998932], [34005860, 34006004], [34007877, 34008133]] [[33997355, 33997623], [33998745, 33998932], [34005860, 34006004], [34007877, 34008124]]
NM_014324 [[33987090, 33989607], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008220]] [[33989197, 33989607], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008124]]
NM_001167595 [[33987090, 33988466], [33989215, 33989607], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008220]] [[33988412, 33988466], [33989215, 33989607], [33998745, 33998932], [34004678, 34004839], [34005860, 34006004], [34007877, 34008124]]
NM_203382 [[33987090, 33989607], [33998745, 33998932], [34005860, 34006004], [34007877, 34008220]] [[33989588, 33989607], [33998745, 33998932], [34005860, 34006004], [34007877, 34008124]]
Promoter
Chrom Start End Description
chr5 34008113 34008124 CAGE_peak_3_at_AMACR_5end
chr5 34008130 34008171 CAGE_peak_1_at_AMACR_5end
chr5 34008179 34008215 CAGE_peak_2_at_AMACR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I034059 34059522 34063198 0.76 [{'connected_gene': 'BRIX1', 'score': 11.27}, {'connected_gene': 'AMACR', 'score': 6.88}, {'connected_gene': 'GC05P034055', 'score': 0.44}, {'connected_gene': 'ENSG00000278900', 'score': 0.26}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.21}]
chr5 GH05I034531 34531836 34536245 1.03 [{'connected_gene': 'RAI14', 'score': 9.84}, {'connected_gene': 'AMACR', 'score': 4.58}, {'connected_gene': 'LOC105374721', 'score': 0.23}, {'connected_gene': 'GC05P034404', 'score': 0.13}]
chr5 GH05I034529 34529166 34530426 0.38 [{'connected_gene': 'RAI14', 'score': 6.39}, {'connected_gene': 'AMACR', 'score': 4.64}, {'connected_gene': 'LOC105374721', 'score': 0.22}, {'connected_gene': 'GC05P034404', 'score': 0.13}]
chr5 GH05I034526 34526736 34527045 1.18 [{'connected_gene': 'RAI14', 'score': 5.36}, {'connected_gene': 'AMACR', 'score': 4.66}, {'connected_gene': 'LOC105374721', 'score': 0.22}, {'connected_gene': 'GC05P034404', 'score': 0.13}]
chr5 GH05I034006 34006415 34010897 2.54 [{'connected_gene': 'AMACR', 'score': 653.55}, {'connected_gene': 'ENSG00000249572', 'score': 12.53}, {'connected_gene': 'BRIX1', 'score': 11.8}, {'connected_gene': 'TTC23L', 'score': 10.75}, {'connected_gene': 'LOC643373', 'score': 10.41}, {'connected_gene': 'DNAJC21', 'score': 9.76}, {'connected_gene': 'C1QTNF3', 'score': 2.72}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.13}]
chr5 GH05I034021 34021948 34022802 0.83 [{'connected_gene': 'AMACR', 'score': 18.24}, {'connected_gene': 'C1QTNF3', 'score': 0.34}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.15}]
chr5 GH05I034014 34014855 34016315 0.72 [{'connected_gene': 'AMACR', 'score': 28.56}, {'connected_gene': 'C1QTNF3', 'score': 0.31}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.14}]
chr5 GH05I034029 34029359 34030800 0.43 [{'connected_gene': 'AMACR', 'score': 18.91}, {'connected_gene': 'C1QTNF3', 'score': 0.39}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.16}]
chr5 GH05I034033 34033504 34035727 0.99 [{'connected_gene': 'AMACR', 'score': 29.4}, {'connected_gene': 'C1QTNF3', 'score': 0.44}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.17}]
chr5 GH05I034036 34036928 34039222 0.57 [{'connected_gene': 'AMACR', 'score': 40.74}, {'connected_gene': 'C1QTNF3', 'score': 0.44}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.17}]
chr5 GH05I034000 34000922 34002494 1.37 [{'connected_gene': 'AMACR', 'score': 49.06}, {'connected_gene': 'ENSG00000250767', 'score': 0.77}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.13}]
chr5 GH05I034042 34042297 34045204 1.01 [{'connected_gene': 'C1QTNF3', 'score': 550.77}, {'connected_gene': 'AMACR', 'score': 36.83}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.18}]
chr5 GH05I033997 33997400 33997625 0.91 [{'connected_gene': 'ENSG00000250767', 'score': 550.77}, {'connected_gene': 'AMACR', 'score': 0.39}, {'connected_gene': 'SLC45A2', 'score': 0.39}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.13}]
chr5 GH05I034052 34052357 34054750 0.58 [{'connected_gene': 'GC05P034055', 'score': 550.77}, {'connected_gene': 'AMACR', 'score': 23.2}, {'connected_gene': 'C1QTNF3', 'score': 0.44}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.19}]

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