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
ENST00000606514 [[143743968, 143749643], [143749748, 143749821], [143753641, 143753748], [143754967, 143755118], [143759726, 143759831], [143762574, 143763114]] [[143749599, 143749643], [143749748, 143749821], [143753641, 143753748], [143754967, 143755118], [143759726, 143759786]]
ENST00000237283 [[143748125, 143749643], [143749748, 143749821], [143753641, 143753748], [143754967, 143755118], [143759726, 143759831], [143771699, 143771810]] [[143749599, 143749643], [143749748, 143749821], [143753641, 143753748], [143754967, 143755118], [143759726, 143759831], [143771699, 143771795]]
ENST00000367593 [[143765693, 143766106], [143771699, 143771810]] None
NM_001286259 [[143743968, 143749643], [143749748, 143749821], [143753641, 143753748], [143754967, 143755118], [143759726, 143759831], [143762574, 143763814]] [[143749599, 143749643], [143749748, 143749821], [143753641, 143753748], [143754967, 143755118], [143759726, 143759786]]
NM_182503 [[143743968, 143749643], [143749748, 143749821], [143753641, 143753748], [143754967, 143755118], [143759726, 143759831], [143771699, 143771841]] [[143749599, 143749643], [143749748, 143749821], [143753641, 143753748], [143754967, 143755118], [143759726, 143759831], [143771699, 143771795]]
Promoter
Chrom Start End Description
chr6 143771799 143771869 CAGE_peak_1_at_ADAT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I143575 143575357 143577407 0.99 [{'connected_gene': 'PHACTR2', 'score': 11.68}, {'connected_gene': 'LTV1', 'score': 11.2}, {'connected_gene': 'ZC2HC1B', 'score': 10.03}, {'connected_gene': 'ADAT2', 'score': 4.96}, {'connected_gene': 'PHACTR2-AS1', 'score': 0.44}, {'connected_gene': 'GC06P143680', 'score': 0.15}, {'connected_gene': 'GC06M143473', 'score': 0.12}]
chr6 GH06I143578 143578848 143580453 0.52 [{'connected_gene': 'PHACTR2', 'score': 10.89}, {'connected_gene': 'LTV1', 'score': 10.38}, {'connected_gene': 'ZC2HC1B', 'score': 9.95}, {'connected_gene': 'ADAT2', 'score': 4.43}, {'connected_gene': 'PHACTR2-AS1', 'score': 0.39}, {'connected_gene': 'GC06P143680', 'score': 0.15}, {'connected_gene': 'GC06M143473', 'score': 0.13}]
chr6 GH06I143580 143580594 143582860 0.91 [{'connected_gene': 'PHACTR2', 'score': 10.89}, {'connected_gene': 'LTV1', 'score': 10.38}, {'connected_gene': 'ZC2HC1B', 'score': 9.95}, {'connected_gene': 'ADAT2', 'score': 4.32}, {'connected_gene': 'PHACTR2-AS1', 'score': 0.39}, {'connected_gene': 'GC06P143680', 'score': 0.15}, {'connected_gene': 'GC06M143473', 'score': 0.13}]
chr6 GH06I143514 143514735 143515655 0.4 [{'connected_gene': 'PHACTR2', 'score': 12.27}, {'connected_gene': 'PHACTR2-AS1', 'score': 10.94}, {'connected_gene': 'ADAT2', 'score': 9.9}, {'connected_gene': 'LOC105378035', 'score': 0.77}, {'connected_gene': 'GC06M143473', 'score': 0.08}]
chr6 GH06I143605 143605279 143607619 0.31 [{'connected_gene': 'PHACTR2', 'score': 10.27}, {'connected_gene': 'ADAT2', 'score': 5.18}, {'connected_gene': 'PHACTR2-AS1', 'score': 0.28}, {'connected_gene': 'GC06P143680', 'score': 0.19}, {'connected_gene': 'GC06M143473', 'score': 0.15}]
chr6 GH06I143176 143176027 143177473 0.79 [{'connected_gene': 'LTV1', 'score': 13.41}, {'connected_gene': 'ADAT2', 'score': 12.02}, {'connected_gene': 'ENSG00000270890', 'score': 9.92}, {'connected_gene': 'AIG1', 'score': 9.83}, {'connected_gene': 'PHACTR2', 'score': 8.76}, {'connected_gene': 'LOC100131471', 'score': 4.44}, {'connected_gene': 'ENSG00000225752', 'score': 0.18}, {'connected_gene': 'ENSG00000217495', 'score': 0.13}]
chr6 GH06I143691 143691344 143694200 1.3 [{'connected_gene': 'LTV1', 'score': 26.21}, {'connected_gene': 'ADAT2', 'score': 11.83}, {'connected_gene': 'ENSG00000270890', 'score': 11.76}, {'connected_gene': 'VDAC1P8', 'score': 11.23}, {'connected_gene': 'ZC2HC1B', 'score': 10.51}, {'connected_gene': 'GC06P143680', 'score': 0.39}, {'connected_gene': 'GC06M143473', 'score': 0.39}, {'connected_gene': 'PHACTR2', 'score': 0.1}]
chr6 GH06I142932 142932480 142936632 1.09 [{'connected_gene': 'LTV1', 'score': 14.42}, {'connected_gene': 'ENSG00000270890', 'score': 13.8}, {'connected_gene': 'ADAT2', 'score': 13.04}, {'connected_gene': 'VDAC1P8', 'score': 10.63}, {'connected_gene': 'LOC105369170', 'score': 0.44}, {'connected_gene': 'ENSG00000232618', 'score': 0.37}, {'connected_gene': 'HIVEP2', 'score': 0.34}]
chr6 GH06I143842 143842046 143844875 2.1 [{'connected_gene': 'LTV1', 'score': 550.77}, {'connected_gene': 'ADAT2', 'score': 10.37}, {'connected_gene': 'GC06P143854', 'score': 0.39}, {'connected_gene': 'ENSG00000257065', 'score': 0.28}]
chr6 GH06I143741 143741002 143750497 1.43 [{'connected_gene': 'LTV1', 'score': 37.88}, {'connected_gene': 'ENSG00000270890', 'score': 28.76}, {'connected_gene': 'VDAC1P8', 'score': 26.8}, {'connected_gene': 'TUBB8P2', 'score': 17.83}, {'connected_gene': 'PHACTR2', 'score': 14.96}, {'connected_gene': 'ADAT2', 'score': 12.9}, {'connected_gene': 'PLAGL1', 'score': 11.3}, {'connected_gene': 'PHACTR2-AS1', 'score': 10.31}, {'connected_gene': 'ZC2HC1B', 'score': 9.81}, {'connected_gene': 'GC06P143748', 'score': 0.77}, {'connected_gene': 'GC06P143711', 'score': 0.29}]
chr6 GH06I144094 144094087 144096677 2.12 [{'connected_gene': 'SF3B5', 'score': 550.77}, {'connected_gene': 'ADAT2', 'score': 10.35}, {'connected_gene': 'PLAGL1', 'score': 5.44}]
chr6 GH06I144283 144283794 144287954 1.74 [{'connected_gene': 'UTRN', 'score': 555.65}, {'connected_gene': 'TPT1P4', 'score': 21.95}, {'connected_gene': 'ENSG00000225311', 'score': 11.74}, {'connected_gene': 'ADAT2', 'score': 11.01}, {'connected_gene': 'STX11', 'score': 10.6}, {'connected_gene': 'PLAGL1', 'score': 10.41}, {'connected_gene': 'LTV1', 'score': 10.17}, {'connected_gene': 'GC06P144306', 'score': 0.34}]
chr6 GH06I143058 143058822 143065783 2.53 [{'connected_gene': 'AIG1', 'score': 561.3}, {'connected_gene': 'VDAC1P8', 'score': 26.43}, {'connected_gene': 'LTV1', 'score': 23.08}, {'connected_gene': 'ADAT2', 'score': 22.96}, {'connected_gene': 'ENSG00000270890', 'score': 18.12}, {'connected_gene': 'HIVEP2', 'score': 10.46}, {'connected_gene': 'ENSG00000232618', 'score': 10.45}, {'connected_gene': 'ENSG00000227192', 'score': 5.6}, {'connected_gene': 'ENSG00000225752', 'score': 0.28}]
chr6 GH06I142940 142940318 142948640 2.49 [{'connected_gene': 'HIVEP2', 'score': 550.39}, {'connected_gene': 'ADAT2', 'score': 23.95}, {'connected_gene': 'VDAC1P8', 'score': 14.02}, {'connected_gene': 'LTV1', 'score': 12.6}, {'connected_gene': 'TUBB8P2', 'score': 12.15}, {'connected_gene': 'ENSG00000270890', 'score': 11.95}, {'connected_gene': 'ENSG00000233138', 'score': 11.33}, {'connected_gene': 'AIG1', 'score': 10.19}, {'connected_gene': 'FUCA2', 'score': 4.72}, {'connected_gene': 'ENSG00000232618', 'score': 0.44}, {'connected_gene': 'LOC105369170', 'score': 0.37}]
chr6 GH06I144277 144277365 144278383 0.63 [{'connected_gene': 'TPT1P4', 'score': 22.35}, {'connected_gene': 'ENSG00000270890', 'score': 14.85}, {'connected_gene': 'ADAT2', 'score': 12.34}, {'connected_gene': 'VDAC1P8', 'score': 11.9}, {'connected_gene': 'ENSG00000225311', 'score': 11.04}, {'connected_gene': 'STX11', 'score': 10.31}, {'connected_gene': 'UTRN', 'score': 0.44}, {'connected_gene': 'ENSG00000216475', 'score': 0.34}]
chr6 GH06I143568 143568940 143569532 0.43 [{'connected_gene': 'PHACTR2-AS1', 'score': 550.77}, {'connected_gene': 'PHACTR2', 'score': 11.7}, {'connected_gene': 'LTV1', 'score': 11.2}, {'connected_gene': 'ZC2HC1B', 'score': 10.02}, {'connected_gene': 'ADAT2', 'score': 5.11}, {'connected_gene': 'GC06M143473', 'score': 0.12}]
chr6 GH06I143614 143614001 143614600 0.49 [{'connected_gene': 'PHACTR2-AS1', 'score': 10.82}, {'connected_gene': 'ADAT2', 'score': 4.92}, {'connected_gene': 'GC06P143680', 'score': 0.2}, {'connected_gene': 'PHACTR2', 'score': 0.18}, {'connected_gene': 'GC06M143473', 'score': 0.16}]
chr6 GH06I143513 143513464 143513613 0.72 [{'connected_gene': 'FUCA2', 'score': 550.77}, {'connected_gene': 'LOC105378035', 'score': 550.77}, {'connected_gene': 'PHACTR2', 'score': 12.27}, {'connected_gene': 'PHACTR2-AS1', 'score': 10.93}, {'connected_gene': 'ADAT2', 'score': 6.83}, {'connected_gene': 'GC06M143473', 'score': 0.08}]
chr6 GH06I143510 143510200 143512353 2.11 [{'connected_gene': 'FUCA2', 'score': 555.1}, {'connected_gene': 'LOC105378035', 'score': 550.77}, {'connected_gene': 'LTV1', 'score': 33.27}, {'connected_gene': 'VDAC1P8', 'score': 31.83}, {'connected_gene': 'ADAT2', 'score': 28.55}, {'connected_gene': 'ENSG00000270890', 'score': 27.95}, {'connected_gene': 'PLAGL1', 'score': 11.74}, {'connected_gene': 'GC06M143473', 'score': 0.08}]
chr6 GH06I143533 143533948 143552646 2.15 [{'connected_gene': 'ADAT2', 'score': 6.38}, {'connected_gene': 'PHACTR2', 'score': 6.02}, {'connected_gene': 'PLAGL1', 'score': 5.48}, {'connected_gene': 'PHACTR2-AS1', 'score': 0.31}, {'connected_gene': 'LOC105378035', 'score': 0.29}, {'connected_gene': 'GC06M143473', 'score': 0.1}]
chr6 GH06I143449 143449189 143452223 2.42 [{'connected_gene': 'ADAT2', 'score': 623.45}, {'connected_gene': 'PEX3', 'score': 555.92}, {'connected_gene': 'RNA5SP221', 'score': 550.77}, {'connected_gene': 'LTV1', 'score': 98.85}, {'connected_gene': 'ENSG00000270890', 'score': 61.94}, {'connected_gene': 'VDAC1P8', 'score': 42.01}, {'connected_gene': 'PLAGL1', 'score': 30.51}, {'connected_gene': 'TUBB8P2', 'score': 27.4}]
chr6 GH06I143583 143583172 143585862 0.38 [{'connected_gene': 'ADAT2', 'score': 4.9}, {'connected_gene': 'PHACTR2-AS1', 'score': 0.37}, {'connected_gene': 'PHACTR2', 'score': 0.25}, {'connected_gene': 'GC06P143680', 'score': 0.15}, {'connected_gene': 'GC06M143473', 'score': 0.13}]
chr6 GH06I143598 143598100 143599453 0.8 [{'connected_gene': 'ADAT2', 'score': 5.01}, {'connected_gene': 'PHACTR2-AS1', 'score': 0.31}, {'connected_gene': 'PHACTR2', 'score': 0.21}, {'connected_gene': 'GC06P143680', 'score': 0.18}, {'connected_gene': 'GC06M143473', 'score': 0.14}]
chr6 GH06I143442 143442025 143442084 0.73 [{'connected_gene': 'ADAT2', 'score': 550.44}, {'connected_gene': 'RNA5SP221', 'score': 0.44}, {'connected_gene': 'TUBB8P2', 'score': 0.44}]
chr6 GH06I142806 142806679 142808947 0.62 [{'connected_gene': 'ADAT2', 'score': 11.79}, {'connected_gene': 'ENSG00000233138', 'score': 11.3}, {'connected_gene': 'VDAC1P8', 'score': 11.18}, {'connected_gene': 'ENSG00000237851', 'score': 0.37}, {'connected_gene': 'LOC105369170', 'score': 0.13}, {'connected_gene': 'HIVEP2', 'score': 0.11}]
chr6 GH06I143408 143408697 143411927 1.37 [{'connected_gene': 'ADAT2', 'score': 30.38}, {'connected_gene': 'LOC100288558', 'score': 0.34}, {'connected_gene': 'TUBB8P2', 'score': 0.31}]
chr6 GH06I143164 143164235 143168095 0.95 [{'connected_gene': 'ADAT2', 'score': 10.38}, {'connected_gene': 'LOC100131471', 'score': 4.41}, {'connected_gene': 'ENSG00000225752', 'score': 0.2}, {'connected_gene': 'AIG1', 'score': 0.14}, {'connected_gene': 'ENSG00000217495', 'score': 0.12}]
chr6 GH06I143427 143427200 143427453 1.04 [{'connected_gene': 'TUBB8P2', 'score': 0.44}, {'connected_gene': 'ADAT2', 'score': 0.34}, {'connected_gene': 'LOC100288558', 'score': 0.26}]
chr6 GH06I142819 142818797 142823485 1.53 [{'connected_gene': 'VDAC1P8', 'score': 20.66}, {'connected_gene': 'ADAT2', 'score': 13.04}, {'connected_gene': 'PEX3', 'score': 9.67}, {'connected_gene': 'ADGRG6', 'score': 4.52}, {'connected_gene': 'HIVEP2', 'score': 4.47}, {'connected_gene': 'ENSG00000237851', 'score': 0.29}, {'connected_gene': 'LOC105369170', 'score': 0.14}]
chr6 GH06I144013 144013524 144013693 0.81 [{'connected_gene': 'VDAC1P8', 'score': 12.18}, {'connected_gene': 'ADAT2', 'score': 11.42}, {'connected_gene': 'ENSG00000270890', 'score': 10.39}, {'connected_gene': 'LTV1', 'score': 10.03}, {'connected_gene': 'PLAGL1', 'score': 4.48}, {'connected_gene': 'HYMAI', 'score': 0.77}, {'connected_gene': 'LOC100131041', 'score': 0.34}]
chr6 GH06I143528 143528017 143529200 0.77 [{'connected_gene': 'VDAC1P8', 'score': 22.5}, {'connected_gene': 'ADAT2', 'score': 13.49}, {'connected_gene': 'ENSG00000270890', 'score': 12.71}, {'connected_gene': 'PHACTR2-AS1', 'score': 11.26}, {'connected_gene': 'LTV1', 'score': 11.12}, {'connected_gene': 'TUBB8P2', 'score': 10.74}, {'connected_gene': 'PLAGL1', 'score': 9.75}, {'connected_gene': 'PHACTR2', 'score': 0.44}, {'connected_gene': 'LOC105378035', 'score': 0.37}, {'connected_gene': 'GC06M143473', 'score': 0.1}]
chr6 GH06I142518 142518124 142518273 0.59 [{'connected_gene': 'VDAC1P8', 'score': 13.63}, {'connected_gene': 'ADAT2', 'score': 11.18}, {'connected_gene': 'LOC153910', 'score': 0.13}, {'connected_gene': 'GC06M142363', 'score': 0.1}]
chr6 GH06I143404 143404669 143406477 0.2 [{'connected_gene': 'VDAC1P8', 'score': 5.93}, {'connected_gene': 'ADAT2', 'score': 4.89}, {'connected_gene': 'LOC100288558', 'score': 0.37}, {'connected_gene': 'TUBB8P2', 'score': 0.29}]
chr6 GH06I144214 144214790 144217799 1.31 [{'connected_gene': 'TRL-TAA1-1', 'score': 550.77}, {'connected_gene': 'GC06P144217', 'score': 550.77}, {'connected_gene': 'ADAT2', 'score': 24.9}, {'connected_gene': 'ENSG00000270890', 'score': 21.09}, {'connected_gene': 'VDAC1P8', 'score': 12.77}, {'connected_gene': 'LTV1', 'score': 11.31}, {'connected_gene': 'SF3B5', 'score': 4.42}, {'connected_gene': 'TPT1P4', 'score': 0.37}]
chr6 GH06I143754 143754922 143756145 0.93 [{'connected_gene': 'GC06P143756', 'score': 550.77}, {'connected_gene': 'LTV1', 'score': 21.81}, {'connected_gene': 'PLAGL1', 'score': 20.07}, {'connected_gene': 'VDAC1P8', 'score': 15.14}, {'connected_gene': 'ADAT2', 'score': 12.9}, {'connected_gene': 'ENSG00000270890', 'score': 12.23}, {'connected_gene': 'TUBB8P2', 'score': 9.7}, {'connected_gene': 'PHACTR2', 'score': 9.52}, {'connected_gene': 'GC06P143748', 'score': 0.44}]
chr6 GH06I143711 143711411 143712440 0.31 [{'connected_gene': 'GC06P143711', 'score': 550.77}, {'connected_gene': 'LTV1', 'score': 11.06}, {'connected_gene': 'ZC2HC1B', 'score': 10.19}, {'connected_gene': 'ADAT2', 'score': 4.75}, {'connected_gene': 'GC06P143748', 'score': 0.28}, {'connected_gene': 'PHACTR2', 'score': 0.1}]
chr6 GH06I142883 142883175 142889316 1.79 [{'connected_gene': 'ENSG00000270890', 'score': 30.6}, {'connected_gene': 'HIVEP2', 'score': 27.07}, {'connected_gene': 'ADAT2', 'score': 23.55}, {'connected_gene': 'VDAC1P8', 'score': 22.92}, {'connected_gene': 'ENSG00000232618', 'score': 11.64}, {'connected_gene': 'LTV1', 'score': 10.09}, {'connected_gene': 'LOC105369170', 'score': 0.26}, {'connected_gene': 'ENSG00000237851', 'score': 0.15}]
chr6 GH06I143802 143802484 143807229 1.4 [{'connected_gene': 'ENSG00000270890', 'score': 18.32}, {'connected_gene': 'VDAC1P8', 'score': 16.34}, {'connected_gene': 'LTV1', 'score': 15.6}, {'connected_gene': 'ADAT2', 'score': 13.69}, {'connected_gene': 'ZC2HC1B', 'score': 10.85}, {'connected_gene': 'PHACTR2', 'score': 2.56}, {'connected_gene': 'PLAGL1', 'score': 2.07}, {'connected_gene': 'ENSG00000257065', 'score': 0.77}, {'connected_gene': 'GC06P143756', 'score': 0.25}]

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