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
ENST00000394053 [[74425688, 74425869], [74432831, 74433016], [74434830, 74434953], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74444692]] [[74425768, 74425869], [74432831, 74433016], [74434830, 74434953], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74441369]]
ENST00000409804 [[74425736, 74425869], [74432831, 74433016], [74438325, 74438418], [74438867, 74438993], [74441205, 74442425]] [[74425768, 74425869], [74432831, 74433016], [74438325, 74438418], [74438867, 74438993], [74441205, 74441369]]
ENST00000264090 [[74425739, 74425869], [74434830, 74434953], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74441868]] [[74434850, 74434953], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74441369]]
ENST00000470592 [[74425739, 74425869], [74434830, 74434953], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74441868]] [[74425768, 74425869], [74434830, 74434843]]
ENST00000477455 [[74425741, 74425869], [74432831, 74433016], [74433108, 74433215], [74434830, 74434953], [74435695, 74435848]] None
ENST00000489041 [[74425741, 74425869], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74441732]] [[74425768, 74425869], [74435695, 74435705]]
ENST00000394050 [[74425741, 74425869], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74441732]] [[74435778, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74441369]]
ENST00000409601 [[74425742, 74425869], [74432831, 74433016], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74441205, 74442404]] [[74425768, 74425869], [74432831, 74433016], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74441205, 74441369]]
ENST00000488086 [[74425755, 74425869], [74432831, 74433200]] None
ENST00000462026 [[74433520, 74433733], [74434830, 74434953], [74435695, 74435848], [74437068, 74437178]] None
NM_006636 [[74425689, 74425869], [74432831, 74433016], [74434830, 74434953], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74442425]] [[74425768, 74425869], [74432831, 74433016], [74434830, 74434953], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74441369]]
NR_027405 [[74425689, 74425869], [74428508, 74428606], [74432831, 74433016], [74434830, 74434953], [74435695, 74435848], [74437068, 74437176], [74438325, 74438418], [74438867, 74438993], [74441205, 74442425]] None
Promoter
Chrom Start End Description
chr2 74425732 74425749 CAGE_peak_1_at_MTHFD2_5end
chr2 74433515 74433538 CAGE_peak_2_at_MTHFD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I074480 74480906 74483934 2.07 [{'connected_gene': 'TTC31', 'score': 571.26}, {'connected_gene': 'CCDC142', 'score': 564.77}, {'connected_gene': 'LBX2', 'score': 23.1}, {'connected_gene': 'AUP1', 'score': 17.22}, {'connected_gene': 'MOGS', 'score': 14.69}, {'connected_gene': 'ENSG00000273245', 'score': 13.71}, {'connected_gene': 'PCGF1', 'score': 13.68}, {'connected_gene': 'DUSP11', 'score': 13.54}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'MOB1A', 'score': 10.08}, {'connected_gene': 'INO80B', 'score': 9.98}, {'connected_gene': 'MRPL53', 'score': 0.44}]
chr2 GH02I074177 74177342 74179690 2.03 [{'connected_gene': 'MOB1A', 'score': 562.69}, {'connected_gene': 'BOLA3-AS1', 'score': 26.69}, {'connected_gene': 'LOC107985899', 'score': 21.37}, {'connected_gene': 'DUSP11', 'score': 16.55}, {'connected_gene': 'HTRA2', 'score': 12.42}, {'connected_gene': 'BOLA3', 'score': 11.98}, {'connected_gene': 'MTHFD2', 'score': 11.93}, {'connected_gene': 'ENSG00000273245', 'score': 11.8}, {'connected_gene': 'AUP1', 'score': 10.51}, {'connected_gene': 'DGUOK-AS1', 'score': 10.21}, {'connected_gene': 'INO80B', 'score': 9.75}, {'connected_gene': 'TTC31', 'score': 9.75}]
chr2 GH02I074528 74528127 74532523 2.1 [{'connected_gene': 'AUP1', 'score': 563.12}, {'connected_gene': 'HTRA2', 'score': 560.69}, {'connected_gene': 'LBX2', 'score': 31.68}, {'connected_gene': 'TTC31', 'score': 23.73}, {'connected_gene': 'CCDC142', 'score': 22.36}, {'connected_gene': 'PCGF1', 'score': 21.89}, {'connected_gene': 'DUSP11', 'score': 13.28}, {'connected_gene': 'MOB1A', 'score': 13.22}, {'connected_gene': 'MOGS', 'score': 12.88}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'ENSG00000273245', 'score': 11.67}, {'connected_gene': 'LOXL3', 'score': 11.21}, {'connected_gene': 'WBP1', 'score': 10.79}, {'connected_gene': 'DGUOK-AS1', 'score': 10.02}, {'connected_gene': 'M1AP', 'score': 9.35}, {'connected_gene': 'SEMA4F', 'score': 9.35}, {'connected_gene': 'DOK1', 'score': 0.37}]
chr2 GH02I074201 74201734 74201883 0.66 [{'connected_gene': 'BOLA3', 'score': 10.84}, {'connected_gene': 'BOLA3-AS1', 'score': 10.84}, {'connected_gene': 'SLC4A5', 'score': 9.41}, {'connected_gene': 'MTHFD2', 'score': 0.77}, {'connected_gene': 'GC02P074217', 'score': 0.39}]
chr2 GH02I074872 74872194 74876661 1.37 [{'connected_gene': 'HK2', 'score': 49.8}, {'connected_gene': 'M1AP', 'score': 10.53}, {'connected_gene': 'SEMA4F', 'score': 10.53}, {'connected_gene': 'MTHFD2', 'score': 5.48}, {'connected_gene': 'LBX2', 'score': 1.38}, {'connected_gene': 'GC02P074877', 'score': 0.77}, {'connected_gene': 'GC02M074860', 'score': 0.44}]
chr2 GH02I073821 73821410 73821526 0.7 [{'connected_gene': 'WBP1', 'score': 15.06}, {'connected_gene': 'SMYD5', 'score': 11.46}, {'connected_gene': 'ENSG00000159239', 'score': 10.22}, {'connected_gene': 'ALMS1', 'score': 9.97}, {'connected_gene': 'MOB1A', 'score': 2.06}, {'connected_gene': 'MTHFD2', 'score': 1.76}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.44}, {'connected_gene': 'C2orf78', 'score': 0.28}]
chr2 GH02I074042 74042697 74044064 1.21 [{'connected_gene': 'TET3', 'score': 11.83}, {'connected_gene': 'ACTG2', 'score': 10.38}, {'connected_gene': 'BOLA3', 'score': 10.06}, {'connected_gene': 'BOLA3-AS1', 'score': 10.06}, {'connected_gene': 'LOC107985899', 'score': 9.96}, {'connected_gene': 'MTHFD2', 'score': 9.9}, {'connected_gene': 'DGUOK-AS1', 'score': 7.43}, {'connected_gene': 'ENSG00000279181', 'score': 0.26}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I074044 74044228 74046483 0.63 [{'connected_gene': 'TET3', 'score': 11.83}, {'connected_gene': 'ACTG2', 'score': 10.38}, {'connected_gene': 'BOLA3', 'score': 10.06}, {'connected_gene': 'BOLA3-AS1', 'score': 10.06}, {'connected_gene': 'LOC107985899', 'score': 9.96}, {'connected_gene': 'MTHFD2', 'score': 9.91}, {'connected_gene': 'DGUOK-AS1', 'score': 9.07}, {'connected_gene': 'FNBP1P1', 'score': 4.49}, {'connected_gene': 'ENSG00000279181', 'score': 0.25}]
chr2 GH02I074048 74048155 74049960 0.91 [{'connected_gene': 'TET3', 'score': 11.83}, {'connected_gene': 'ACTG2', 'score': 10.38}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'LOC107985899', 'score': 9.97}, {'connected_gene': 'MTHFD2', 'score': 9.91}, {'connected_gene': 'ENSG00000279181', 'score': 0.23}, {'connected_gene': 'FNBP1P1', 'score': 0.19}]
chr2 GH02I074040 74040601 74041572 0.66 [{'connected_gene': 'TET3', 'score': 12.72}, {'connected_gene': 'BOLA3', 'score': 10.74}, {'connected_gene': 'BOLA3-AS1', 'score': 10.74}, {'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'LOC107985899', 'score': 10.28}, {'connected_gene': 'MTHFD2', 'score': 9.9}, {'connected_gene': 'DGUOK-AS1', 'score': 4.82}, {'connected_gene': 'ENSG00000279181', 'score': 0.26}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I074471 74471188 74473710 2.1 [{'connected_gene': 'MRPL53', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 22.48}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'WBP1', 'score': 11.07}, {'connected_gene': 'INO80B', 'score': 10.56}, {'connected_gene': 'DGUOK-AS1', 'score': 9.8}, {'connected_gene': 'MOGS', 'score': 0.44}, {'connected_gene': 'CCDC142', 'score': 0.39}]
chr2 GH02I074119 74119581 74121143 1.59 [{'connected_gene': 'FNBP1P1', 'score': 604.51}, {'connected_gene': 'LOC107985899', 'score': 43.13}, {'connected_gene': 'PCGF1', 'score': 36.3}, {'connected_gene': 'CCDC142', 'score': 35.48}, {'connected_gene': 'TTC31', 'score': 31.4}, {'connected_gene': 'DUSP11', 'score': 28.42}, {'connected_gene': 'ENSG00000273245', 'score': 26.53}, {'connected_gene': 'AUP1', 'score': 26.39}, {'connected_gene': 'MOGS', 'score': 24.32}, {'connected_gene': 'WBP1', 'score': 20.49}, {'connected_gene': 'MRPL53', 'score': 19.04}, {'connected_gene': 'INO80B', 'score': 18.41}, {'connected_gene': 'MTHFD2', 'score': 12.14}, {'connected_gene': 'HTRA2', 'score': 10.88}, {'connected_gene': 'MOB1A', 'score': 10.25}, {'connected_gene': 'ALMS1P1', 'score': 9.76}, {'connected_gene': 'ENSG00000279181', 'score': 0.13}]
chr2 GH02I074204 74204344 74207199 1.11 [{'connected_gene': 'BOLA3-AS1', 'score': 25.32}, {'connected_gene': 'MOB1A', 'score': 17.0}, {'connected_gene': 'BOLA3', 'score': 11.08}, {'connected_gene': 'RTKN', 'score': 9.77}, {'connected_gene': 'LOC107985899', 'score': 9.0}, {'connected_gene': 'MTHFD2', 'score': 0.44}, {'connected_gene': 'GC02P074217', 'score': 0.39}]
chr2 GH02I074184 74184002 74188837 1.41 [{'connected_gene': 'BOLA3-AS1', 'score': 21.7}, {'connected_gene': 'LOC107985899', 'score': 20.9}, {'connected_gene': 'BOLA3', 'score': 10.79}, {'connected_gene': 'FNBP1P1', 'score': 9.41}, {'connected_gene': 'MOB1A', 'score': 6.55}, {'connected_gene': 'MTHFD2', 'score': 2.31}, {'connected_gene': 'TET3', 'score': 2.2}, {'connected_gene': 'LBX2', 'score': 1.16}, {'connected_gene': 'ENSG00000279201', 'score': 0.77}]
chr2 GH02I074196 74196814 74200680 2.11 [{'connected_gene': 'ENSG00000279070', 'score': 550.77}, {'connected_gene': 'MTHFD2', 'score': 550.77}, {'connected_gene': 'PCGF1', 'score': 40.46}, {'connected_gene': 'DUSP11', 'score': 38.6}, {'connected_gene': 'INO80B', 'score': 38.56}, {'connected_gene': 'ENSG00000273245', 'score': 37.39}, {'connected_gene': 'WBP1', 'score': 28.29}, {'connected_gene': 'AUP1', 'score': 23.63}, {'connected_gene': 'TTC31', 'score': 22.87}, {'connected_gene': 'MOB1A', 'score': 22.46}, {'connected_gene': 'HTRA2', 'score': 22.1}, {'connected_gene': 'SEMA4F', 'score': 22.05}, {'connected_gene': 'ALMS1', 'score': 21.77}, {'connected_gene': 'CCT7', 'score': 20.88}, {'connected_gene': 'BOLA3-AS1', 'score': 20.64}, {'connected_gene': 'WDR54', 'score': 19.46}, {'connected_gene': 'ALMS1P1', 'score': 18.66}, {'connected_gene': 'DGUOK-AS1', 'score': 18.29}, {'connected_gene': 'SLC4A5', 'score': 17.54}, {'connected_gene': 'MOGS', 'score': 14.27}, {'connected_gene': 'CCDC142', 'score': 14.06}, {'connected_gene': 'SMYD5', 'score': 14.03}, {'connected_gene': 'ENSG00000159239', 'score': 12.06}, {'connected_gene': 'DCTN1', 'score': 11.85}, {'connected_gene': 'BOLA3', 'score': 10.84}, {'connected_gene': 'ENSG00000270571', 'score': 10.82}, {'connected_gene': 'TPRKB', 'score': 10.77}, {'connected_gene': 'LOC107985899', 'score': 10.09}, {'connected_gene': 'GC02P074217', 'score': 0.37}]
chr2 GH02I074619 74619801 74620400 0.77 [{'connected_gene': 'GC02P074620', 'score': 550.77}, {'connected_gene': 'LOC100420888', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 9.94}, {'connected_gene': 'HK2', 'score': 2.33}, {'connected_gene': 'MTHFD2', 'score': 2.03}, {'connected_gene': 'MOB1A', 'score': 1.93}, {'connected_gene': 'GC02M074616', 'score': 0.44}, {'connected_gene': 'GC02M074605', 'score': 0.44}, {'connected_gene': 'M1AP', 'score': 0.31}]

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