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
ENST00000606445 [[17065706, 17065809], [17089181, 17089270], [17212228, 17212291], [17275316, 17275462]] [[17275325, 17275462]]
ENST00000322611 [[17217668, 17217919], [17275316, 17276943]] [[17275325, 17276009]]
NM_001271606 [[17216931, 17217006], [17275316, 17276954]] [[17275325, 17276009]]
NM_006317 [[17217669, 17217919], [17275316, 17276954]] [[17275325, 17276009]]
Promoter
Chrom Start End Description
chr5 17217700 17217718 CAGE_peak_2_at_BASP1_5end
chr5 17217727 17217748 CAGE_peak_1_at_BASP1_5end
chr5 17275309 17275320 CAGE_peak_6_at_BASP1_5end
chr5 17275323 17275338 CAGE_peak_4_at_BASP1_5end
chr5 17275813 17275824 CAGE_peak_7_at_BASP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I017301 17301899 17307528 1.55 [{'connected_gene': 'LOC646012', 'score': 550.77}, {'connected_gene': 'BASP1', 'score': 9.12}, {'connected_gene': 'LINC02111', 'score': 4.63}, {'connected_gene': 'RNU6-1003P', 'score': 0.21}]
chr5 GH05I017184 17184400 17188299 1.15 [{'connected_gene': 'MYO10', 'score': 11.67}, {'connected_gene': 'BASP1', 'score': 10.1}, {'connected_gene': 'DCAF13P2', 'score': 0.37}, {'connected_gene': 'LOC105374664', 'score': 0.34}, {'connected_gene': 'BASP1-AS1', 'score': 0.29}]
chr5 GH05I017189 17189393 17192472 1.18 [{'connected_gene': 'BASP1-AS1', 'score': 11.68}, {'connected_gene': 'MYO10', 'score': 11.67}, {'connected_gene': 'BASP1', 'score': 11.5}, {'connected_gene': 'DCAF13P2', 'score': 0.39}, {'connected_gene': 'LOC105374664', 'score': 0.31}]
chr5 GH05I017222 17221401 17221600 0.2 [{'connected_gene': 'BASP1-AS1', 'score': 0.77}, {'connected_gene': 'RNU6-1003P', 'score': 0.37}, {'connected_gene': 'BASP1', 'score': 0.1}]
chr5 GH05I017227 17227665 17229727 1.15 [{'connected_gene': 'BASP1-AS1', 'score': 0.39}, {'connected_gene': 'RNU6-1003P', 'score': 0.39}, {'connected_gene': 'BASP1', 'score': 0.1}]
chr5 GH05I017314 17314915 17315061 0.8 [{'connected_gene': 'BASP1-AS1', 'score': 11.08}, {'connected_gene': 'BASP1', 'score': 10.99}, {'connected_gene': 'LOC646012', 'score': 0.44}, {'connected_gene': 'GC05P017346', 'score': 0.29}]
chr5 GH05I017315 17315134 17318506 1.41 [{'connected_gene': 'BASP1-AS1', 'score': 11.59}, {'connected_gene': 'BASP1', 'score': 11.51}, {'connected_gene': 'RNU6-1003P', 'score': 11.09}, {'connected_gene': 'LINC02111', 'score': 6.74}, {'connected_gene': 'LOC646012', 'score': 0.39}, {'connected_gene': 'GC05P017346', 'score': 0.31}]
chr5 GH05I017318 17318672 17318821 0.65 [{'connected_gene': 'BASP1-AS1', 'score': 11.59}, {'connected_gene': 'BASP1', 'score': 11.51}, {'connected_gene': 'RNU6-1003P', 'score': 11.0}, {'connected_gene': 'LINC02111', 'score': 5.34}, {'connected_gene': 'LOC646012', 'score': 0.39}, {'connected_gene': 'GC05P017346', 'score': 0.31}]
chr5 GH05I017215 17215732 17219961 2.21 [{'connected_gene': 'BASP1-AS1', 'score': 550.77}, {'connected_gene': 'BASP1', 'score': 550.1}, {'connected_gene': 'RNU6-1003P', 'score': 0.34}]
chr5 GH05I017192 17192885 17193110 0.25 [{'connected_gene': 'BASP1-AS1', 'score': 11.85}, {'connected_gene': 'BASP1', 'score': 11.63}, {'connected_gene': 'DCAF13P2', 'score': 0.44}, {'connected_gene': 'LOC105374664', 'score': 0.31}]
chr5 GH05I017218 17214001 17214200 0.38 [{'connected_gene': 'BASP1-AS1', 'score': 0.77}, {'connected_gene': 'DCAF13P2', 'score': 0.39}, {'connected_gene': 'BASP1', 'score': 0.11}]
chr5 GH05I017216 17215512 17215661 0.31 [{'connected_gene': 'BASP1-AS1', 'score': 550.77}, {'connected_gene': 'DCAF13P2', 'score': 0.39}, {'connected_gene': 'BASP1', 'score': 0.11}]
chr5 GH05I017217 17214401 17214600 0.2 [{'connected_gene': 'BASP1-AS1', 'score': 0.77}, {'connected_gene': 'DCAF13P2', 'score': 0.39}, {'connected_gene': 'BASP1', 'score': 0.11}]
chr5 GH05I017214 17213001 17213241 0.63 [{'connected_gene': 'BASP1-AS1', 'score': 0.77}, {'connected_gene': 'DCAF13P2', 'score': 0.39}, {'connected_gene': 'BASP1', 'score': 0.11}]
chr5 GH05I017213 17213401 17213800 0.31 [{'connected_gene': 'BASP1-AS1', 'score': 0.77}, {'connected_gene': 'DCAF13P2', 'score': 0.39}, {'connected_gene': 'BASP1', 'score': 0.11}]
chr5 GH05I017257 17257800 17258038 1.14 [{'connected_gene': 'RNU6-1003P', 'score': 0.37}, {'connected_gene': 'LOC646012', 'score': 0.25}, {'connected_gene': 'BASP1', 'score': 0.08}]
chr5 GH05I017237 17237375 17239945 0.92 [{'connected_gene': 'RNU6-1003P', 'score': 550.77}, {'connected_gene': 'BASP1-AS1', 'score': 0.34}, {'connected_gene': 'BASP1', 'score': 0.09}]
chr5 GH05I017235 17235400 17236501 0.4 [{'connected_gene': 'RNU6-1003P', 'score': 0.77}, {'connected_gene': 'BASP1-AS1', 'score': 0.37}, {'connected_gene': 'BASP1', 'score': 0.09}]
chr5 GH05I017233 17233592 17233757 0.49 [{'connected_gene': 'RNU6-1003P', 'score': 0.44}, {'connected_gene': 'BASP1-AS1', 'score': 0.37}, {'connected_gene': 'BASP1', 'score': 0.1}]
chr5 GH05I017359 17359249 17360508 1.12 [{'connected_gene': 'RNU6-1003P', 'score': 10.46}, {'connected_gene': 'BASP1', 'score': 3.87}, {'connected_gene': 'FTH1P10', 'score': 0.44}, {'connected_gene': 'GC05M017372', 'score': 0.39}, {'connected_gene': 'GC05M017371', 'score': 0.39}]
chr5 GH05I017167 17167109 17171350 1.1 [{'connected_gene': 'LOC105374664', 'score': 0.77}, {'connected_gene': 'DCAF13P2', 'score': 0.29}, {'connected_gene': 'BASP1-AS1', 'score': 0.25}, {'connected_gene': 'BASP1', 'score': 0.15}]
chr5 GH05I017281 17281911 17283199 1.28 [{'connected_gene': 'BASP1', 'score': 2.43}, {'connected_gene': 'LOC646012', 'score': 0.34}, {'connected_gene': 'RNU6-1003P', 'score': 0.26}]
chr5 GH05I017284 17284844 17285085 0.44 [{'connected_gene': 'BASP1', 'score': 7.46}, {'connected_gene': 'LOC646012', 'score': 0.34}, {'connected_gene': 'RNU6-1003P', 'score': 0.26}]
chr5 GH05I016723 16723528 16723900 0.4 [{'connected_gene': 'BASP1', 'score': 1.24}, {'connected_gene': 'GC05M016744', 'score': 0.37}, {'connected_gene': 'PIR50692', 'score': 0.37}, {'connected_gene': 'GC05P016661', 'score': 0.21}, {'connected_gene': 'GC05M016667', 'score': 0.2}, {'connected_gene': 'MYO10', 'score': 0.08}]
chr5 GH05I017223 17221338 17221397 0.5 [{'connected_gene': 'BASP1', 'score': 550.1}, {'connected_gene': 'BASP1-AS1', 'score': 0.77}, {'connected_gene': 'RNU6-1003P', 'score': 0.37}]
chr5 GH05I017221 17221801 17225868 1.48 [{'connected_gene': 'BASP1', 'score': 7.87}, {'connected_gene': 'BASP1-AS1', 'score': 0.44}, {'connected_gene': 'RNU6-1003P', 'score': 0.37}]
chr5 GH05I017246 17246761 17250482 1.26 [{'connected_gene': 'BASP1', 'score': 6.2}, {'connected_gene': 'RNU6-1003P', 'score': 0.44}, {'connected_gene': 'LOC646012', 'score': 0.22}]
chr5 GH05I017255 17255001 17256621 1.37 [{'connected_gene': 'BASP1', 'score': 12.62}, {'connected_gene': 'RNU6-1003P', 'score': 0.37}, {'connected_gene': 'LOC646012', 'score': 0.23}]
chr5 GH05I017251 17251877 17253151 1.17 [{'connected_gene': 'BASP1', 'score': 11.31}, {'connected_gene': 'RNU6-1003P', 'score': 0.39}, {'connected_gene': 'LOC646012', 'score': 0.23}]
chr5 GH05I017179 17179682 17183102 1.33 [{'connected_gene': 'BASP1', 'score': 6.87}, {'connected_gene': 'LOC105374664', 'score': 0.37}, {'connected_gene': 'DCAF13P2', 'score': 0.34}, {'connected_gene': 'BASP1-AS1', 'score': 0.28}]
chr5 GH05I017154 17154146 17155294 1.04 [{'connected_gene': 'BASP1', 'score': 8.47}, {'connected_gene': 'ENSG00000271892', 'score': 7.61}, {'connected_gene': 'RNA5SP180', 'score': 0.77}, {'connected_gene': 'GC05P017144', 'score': 0.39}, {'connected_gene': 'GC05P017145', 'score': 0.39}, {'connected_gene': 'BASP1-AS1', 'score': 0.21}]
chr5 GH05I017069 17069633 17070750 0.74 [{'connected_gene': 'BASP1', 'score': 0.77}, {'connected_gene': 'PIR49992', 'score': 0.37}, {'connected_gene': 'GC05P017050', 'score': 0.34}]
chr5 GH05I017070 17070792 17070941 0.46 [{'connected_gene': 'BASP1', 'score': 0.44}, {'connected_gene': 'PIR49992', 'score': 0.37}, {'connected_gene': 'GC05P017050', 'score': 0.34}]
chr5 GH05I017400 17400486 17403204 1.24 [{'connected_gene': 'LINC02217', 'score': 6.27}, {'connected_gene': 'BASP1', 'score': 4.76}, {'connected_gene': 'LINC02111', 'score': 0.39}]
chr5 GH05I017157 17157018 17158638 1.02 [{'connected_gene': 'RNA5SP180', 'score': 550.77}, {'connected_gene': 'ENSG00000271892', 'score': 8.09}, {'connected_gene': 'LOC105374664', 'score': 0.44}, {'connected_gene': 'BASP1-AS1', 'score': 0.22}, {'connected_gene': 'BASP1', 'score': 0.16}]
chr5 GH05I017161 17161467 17162182 0.31 [{'connected_gene': 'RNA5SP180', 'score': 0.77}, {'connected_gene': 'LOC105374664', 'score': 0.77}, {'connected_gene': 'BASP1-AS1', 'score': 0.22}, {'connected_gene': 'BASP1', 'score': 0.15}]
chr5 GH05I017203 17203452 17203601 0.68 [{'connected_gene': 'DCAF13P2', 'score': 550.77}, {'connected_gene': 'BASP1-AS1', 'score': 0.39}, {'connected_gene': 'BASP1', 'score': 0.12}]
chr5 GH05I017355 17355572 17356702 0.99 [{'connected_gene': 'GC05P017358', 'score': 550.77}, {'connected_gene': 'PIR59368', 'score': 550.77}, {'connected_gene': 'GC05P017361', 'score': 550.77}, {'connected_gene': 'FTH1P10', 'score': 550.77}, {'connected_gene': 'GC05P017357', 'score': 550.77}, {'connected_gene': 'GC05P017356', 'score': 550.77}, {'connected_gene': 'BASP1', 'score': 7.22}, {'connected_gene': 'ENSG00000249199', 'score': 5.61}, {'connected_gene': 'GC05M017372', 'score': 0.37}, {'connected_gene': 'GC05M017371', 'score': 0.37}]
chr5 GH05I017132 17132632 17132761 0.46 [{'connected_gene': 'GC05P017144', 'score': 0.39}, {'connected_gene': 'GC05P017145', 'score': 0.39}, {'connected_gene': 'ENSG00000206814', 'score': 0.37}, {'connected_gene': 'GC05M017118', 'score': 0.37}, {'connected_gene': 'BASP1', 'score': 0.2}, {'connected_gene': 'BASP1-AS1', 'score': 0.18}]
chr5 GH05I017126 17126592 17130043 0.85 [{'connected_gene': 'ENSG00000271892', 'score': 9.01}, {'connected_gene': 'ENSG00000206814', 'score': 0.39}, {'connected_gene': 'GC05M017118', 'score': 0.39}, {'connected_gene': 'GC05P017144', 'score': 0.37}, {'connected_gene': 'GC05P017145', 'score': 0.37}, {'connected_gene': 'BASP1', 'score': 0.21}, {'connected_gene': 'BASP1-AS1', 'score': 0.17}]
chr5 GH05I017117 17117632 17121153 1.38 [{'connected_gene': 'ENSG00000206814', 'score': 550.77}, {'connected_gene': 'GC05M017118', 'score': 550.77}, {'connected_gene': 'ENSG00000271892', 'score': 13.07}, {'connected_gene': 'BASP1', 'score': 11.33}, {'connected_gene': 'GC05P017144', 'score': 0.34}, {'connected_gene': 'GC05P017145', 'score': 0.34}]
chr5 GH05I017112 17112868 17116385 0.83 [{'connected_gene': 'ENSG00000271892', 'score': 13.11}, {'connected_gene': 'ENSG00000206814', 'score': 0.77}, {'connected_gene': 'GC05M017118', 'score': 0.77}, {'connected_gene': 'BASP1', 'score': 0.25}]
chr5 GH05I017077 17077575 17078678 0.38 [{'connected_gene': 'PIR49992', 'score': 0.44}, {'connected_gene': 'BASP1', 'score': 0.39}, {'connected_gene': 'GC05P017050', 'score': 0.31}]
chr5 GH05I017109 17109201 17109601 0.46 [{'connected_gene': 'ENSG00000271892', 'score': 563.44}, {'connected_gene': 'ENSG00000206814', 'score': 0.44}, {'connected_gene': 'GC05M017118', 'score': 0.44}, {'connected_gene': 'BASP1', 'score': 0.26}]
chr5 GH05I017058 17058552 17058701 0.46 [{'connected_gene': 'GC05P017050', 'score': 0.44}, {'connected_gene': 'BASP1', 'score': 0.44}]
chr5 GH05I017105 17105345 17106873 0.63 [{'connected_gene': 'ENSG00000271892', 'score': 550.77}, {'connected_gene': 'PIR49992', 'score': 0.37}, {'connected_gene': 'BASP1', 'score': 0.26}, {'connected_gene': 'GC05P017050', 'score': 0.22}]
chr5 GH05I017124 17124472 17124681 0.31 [{'connected_gene': 'ENSG00000206814', 'score': 0.44}, {'connected_gene': 'GC05M017118', 'score': 0.44}, {'connected_gene': 'GC05P017144', 'score': 0.37}, {'connected_gene': 'GC05P017145', 'score': 0.37}, {'connected_gene': 'BASP1', 'score': 0.22}]
chr5 GH05I017056 17056200 17056617 0.63 [{'connected_gene': 'GC05P017050', 'score': 0.44}, {'connected_gene': 'BASP1', 'score': 0.44}]
chr5 GH05I017122 17122632 17124367 0.38 [{'connected_gene': 'ENSG00000271892', 'score': 11.83}, {'connected_gene': 'ENSG00000206814', 'score': 0.44}, {'connected_gene': 'GC05M017118', 'score': 0.44}, {'connected_gene': 'GC05P017144', 'score': 0.34}, {'connected_gene': 'GC05P017145', 'score': 0.34}, {'connected_gene': 'BASP1', 'score': 0.22}]
chr5 GH05I017057 17057401 17058201 0.2 [{'connected_gene': 'GC05P017050', 'score': 0.44}, {'connected_gene': 'BASP1', 'score': 0.44}]
chr5 GH05I017079 17079186 17080121 0.52 [{'connected_gene': 'PIR49992', 'score': 0.44}, {'connected_gene': 'BASP1', 'score': 0.39}, {'connected_gene': 'GC05P017050', 'score': 0.31}]
chr5 GH05I017145 17145665 17146656 0.83 [{'connected_gene': 'GC05P017144', 'score': 550.77}, {'connected_gene': 'GC05P017145', 'score': 550.77}, {'connected_gene': 'ENSG00000271892', 'score': 7.87}, {'connected_gene': 'RNA5SP180', 'score': 0.39}, {'connected_gene': 'BASP1-AS1', 'score': 0.19}, {'connected_gene': 'BASP1', 'score': 0.18}]

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