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
ENST00000560261 [[80125926, 80125995], [80131822, 80132051], [80133551, 80133678], [80137499, 80137669]] [[80137551, 80137669]]
ENST00000258874 [[80137317, 80137784], [80181434, 80181696], [80189213, 80189391]] [[80137551, 80137784], [80181434, 80181696], [80189213, 80189330]]
ENST00000560919 [[80181433, 80181696], [80189132, 80189339]] [[80189195, 80189330]]
ENST00000559722 [[80181433, 80181696], [80189502, 80189721]] None
NR_037654 [[80135888, 80137784], [80181434, 80181696], [80189132, 80189339]] None
NM_006441 [[80135888, 80137784], [80181434, 80181696], [80189213, 80189391]] [[80137551, 80137784], [80181434, 80181696], [80189213, 80189330]]
NM_001199758 [[80135888, 80137784], [80181434, 80181696], [80189502, 80189627]] [[80137551, 80137784], [80181434, 80181642]]
Promoter
Chrom Start End Description
chr15 80189307 80189318 CAGE_peak_7_at_MTHFS_5end
chr15 80189328 80189366 CAGE_peak_1_at_MTHFS_5end
chr15 80189380 80189391 CAGE_peak_4_at_MTHFS_5end
chr15 80215984 80216125 CAGE_peak_1_at_ST20_5end,CAGE_peak_2_at_MTHFS_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I080430 80430083 80432771 0.31 [{'connected_gene': 'ARNT2', 'score': 11.83}, {'connected_gene': 'CEMIP', 'score': 10.36}, {'connected_gene': 'ENSG00000258010', 'score': 5.03}, {'connected_gene': 'ST20', 'score': 4.55}, {'connected_gene': 'MTHFS', 'score': 4.39}]
chr15 GH15I079947 79947779 79948950 1.23 [{'connected_gene': 'BCL2A1', 'score': 22.91}, {'connected_gene': 'ST20', 'score': 11.52}, {'connected_gene': 'MTHFS', 'score': 5.82}, {'connected_gene': 'ZFAND6', 'score': 3.32}, {'connected_gene': 'GC15P079945', 'score': 0.77}]
chr15 GH15I079902 79902055 79902202 0.88 [{'connected_gene': 'BCL2A1', 'score': 21.73}, {'connected_gene': 'RNU6-667P', 'score': 9.83}, {'connected_gene': 'ZFAND6', 'score': 3.77}, {'connected_gene': 'ST20-MTHFS', 'score': 2.15}, {'connected_gene': 'ST20', 'score': 1.55}, {'connected_gene': 'MTHFS', 'score': 0.77}, {'connected_gene': 'GC15M079918', 'score': 0.37}]
chr15 GH15I079961 79961601 79962874 1.32 [{'connected_gene': 'BCL2A1', 'score': 25.0}, {'connected_gene': 'RNU6-667P', 'score': 9.8}, {'connected_gene': 'ZFAND6', 'score': 6.72}, {'connected_gene': 'ST20-MTHFS', 'score': 4.72}, {'connected_gene': 'MTHFS', 'score': 3.34}, {'connected_gene': 'ST20', 'score': 2.78}, {'connected_gene': 'GC15P079945', 'score': 0.37}]
chr15 GH15I079867 79867843 79869410 0.31 [{'connected_gene': 'BCL2A1', 'score': 10.75}, {'connected_gene': 'RNU6-667P', 'score': 10.64}, {'connected_gene': 'ST20', 'score': 10.43}, {'connected_gene': 'GC15M079834', 'score': 0.77}, {'connected_gene': 'ENSG00000279394', 'score': 0.44}, {'connected_gene': 'MTHFS', 'score': 0.31}, {'connected_gene': 'ST20-MTHFS', 'score': 0.22}]
chr15 GH15I079906 79906201 79906400 0.4 [{'connected_gene': 'BCL2A1', 'score': 11.53}, {'connected_gene': 'RNU6-667P', 'score': 9.63}, {'connected_gene': 'MTHFS', 'score': 0.44}, {'connected_gene': 'GC15M079918', 'score': 0.39}, {'connected_gene': 'ST20-MTHFS', 'score': 0.37}, {'connected_gene': 'ST20', 'score': 0.37}]
chr15 GH15I079900 79900147 79900408 0.77 [{'connected_gene': 'BCL2A1', 'score': 45.91}, {'connected_gene': 'RNU6-667P', 'score': 9.83}, {'connected_gene': 'ST20-MTHFS', 'score': 6.16}, {'connected_gene': 'ZFAND6', 'score': 6.14}, {'connected_gene': 'MTHFS', 'score': 5.81}, {'connected_gene': 'ST20', 'score': 4.37}, {'connected_gene': 'GC15M079918', 'score': 0.34}]
chr15 GH15I079964 79964588 79972057 2.44 [{'connected_gene': 'BCL2A1', 'score': 581.6}, {'connected_gene': 'MTHFS', 'score': 14.06}, {'connected_gene': 'ST20-MTHFS', 'score': 13.86}, {'connected_gene': 'ST20', 'score': 9.84}, {'connected_gene': 'RNU6-667P', 'score': 9.8}, {'connected_gene': 'LOC101929560', 'score': 6.53}, {'connected_gene': 'ZFAND6', 'score': 5.85}, {'connected_gene': 'GC15P079945', 'score': 0.34}]
chr15 GH15I079973 79973401 79974206 1.24 [{'connected_gene': 'BCL2A1', 'score': 25.86}, {'connected_gene': 'ST20-MTHFS', 'score': 10.78}, {'connected_gene': 'MTHFS', 'score': 7.53}, {'connected_gene': 'ST20', 'score': 7.27}, {'connected_gene': 'ZFAND6', 'score': 4.48}, {'connected_gene': 'LOC100420205', 'score': 0.39}]
chr15 GH15I080031 80031470 80035287 1.13 [{'connected_gene': 'ZFAND6', 'score': 11.92}, {'connected_gene': 'BCL2A1', 'score': 10.88}, {'connected_gene': 'ST20', 'score': 7.35}, {'connected_gene': 'MTHFS', 'score': 6.43}, {'connected_gene': 'RASGRF1', 'score': 5.0}, {'connected_gene': 'ENSG00000279705', 'score': 0.37}, {'connected_gene': 'ENSG00000275460', 'score': 0.34}]
chr15 GH15I080008 80008763 80012675 0.98 [{'connected_gene': 'ZFAND6', 'score': 13.72}, {'connected_gene': 'BCL2A1', 'score': 13.42}, {'connected_gene': 'RNU6-667P', 'score': 10.23}, {'connected_gene': 'MTHFS', 'score': 7.0}, {'connected_gene': 'ST20', 'score': 6.95}, {'connected_gene': 'ENSG00000279705', 'score': 0.77}, {'connected_gene': 'ENSG00000279719', 'score': 0.34}]
chr15 GH15I079903 79903801 79904400 0.66 [{'connected_gene': 'ST20', 'score': 32.8}, {'connected_gene': 'BCL2A1', 'score': 11.53}, {'connected_gene': 'RNU6-667P', 'score': 9.63}, {'connected_gene': 'MTHFS', 'score': 0.44}, {'connected_gene': 'ST20-MTHFS', 'score': 0.37}, {'connected_gene': 'GC15M079918', 'score': 0.37}]
chr15 GH15I079915 79915298 79915357 0.5 [{'connected_gene': 'ST20', 'score': 550.44}, {'connected_gene': 'BCL2A1', 'score': 11.46}, {'connected_gene': 'RNU6-667P', 'score': 9.35}, {'connected_gene': 'ST20-MTHFS', 'score': 0.44}, {'connected_gene': 'GC15M079918', 'score': 0.44}, {'connected_gene': 'MTHFS', 'score': 0.37}]
chr15 GH15I079921 79921873 79924814 2.05 [{'connected_gene': 'ST20', 'score': 581.91}, {'connected_gene': 'ST20-MTHFS', 'score': 550.77}, {'connected_gene': 'ENSG00000278600', 'score': 550.77}, {'connected_gene': 'ST20-AS1', 'score': 550.77}, {'connected_gene': 'MTHFS', 'score': 37.18}, {'connected_gene': 'BCL2A1', 'score': 11.68}]
chr15 GH15I078913 78913579 78918096 1.29 [{'connected_gene': 'MORF4L1', 'score': 7.54}, {'connected_gene': 'ADAMTS7P3', 'score': 4.94}, {'connected_gene': 'MTHFS', 'score': 4.27}, {'connected_gene': 'ENSG00000279235', 'score': 0.44}, {'connected_gene': 'CTSH', 'score': 0.29}]
chr15 GH15I079894 79894481 79899998 2.28 [{'connected_gene': 'MTHFS', 'score': 587.4}, {'connected_gene': 'ST20', 'score': 31.93}, {'connected_gene': 'BCL2A1', 'score': 12.02}, {'connected_gene': 'ZFAND6', 'score': 10.73}, {'connected_gene': 'RNU6-667P', 'score': 10.08}, {'connected_gene': 'KIAA1024', 'score': 4.42}, {'connected_gene': 'ENSG00000279394', 'score': 0.37}, {'connected_gene': 'ST20-MTHFS', 'score': 0.31}]
chr15 GH15I079872 79872301 79873394 0.76 [{'connected_gene': 'MTHFS', 'score': 21.29}, {'connected_gene': 'ST20', 'score': 18.13}, {'connected_gene': 'BCL2A1', 'score': 15.78}, {'connected_gene': 'ZFAND6', 'score': 3.7}, {'connected_gene': 'ST20-MTHFS', 'score': 3.49}, {'connected_gene': 'GC15M079834', 'score': 0.44}, {'connected_gene': 'ENSG00000279394', 'score': 0.44}]
chr15 GH15I079883 79883085 79888497 0.87 [{'connected_gene': 'MTHFS', 'score': 37.44}, {'connected_gene': 'ST20', 'score': 18.1}, {'connected_gene': 'BCL2A1', 'score': 11.75}, {'connected_gene': 'RNU6-667P', 'score': 10.37}, {'connected_gene': 'ZFAND6', 'score': 10.23}, {'connected_gene': 'KIAA1024', 'score': 4.42}, {'connected_gene': 'ENSG00000279394', 'score': 0.44}, {'connected_gene': 'ST20-MTHFS', 'score': 0.28}]
chr15 GH15I079909 79909637 79910600 0.88 [{'connected_gene': 'MTHFS', 'score': 21.98}, {'connected_gene': 'ST20', 'score': 12.83}, {'connected_gene': 'BCL2A1', 'score': 11.67}, {'connected_gene': 'RNU6-667P', 'score': 9.98}, {'connected_gene': 'ST20-MTHFS', 'score': 0.39}, {'connected_gene': 'GC15M079918', 'score': 0.39}]
chr15 GH15I079811 79811499 79812788 0.43 [{'connected_gene': 'MTHFS', 'score': 25.33}, {'connected_gene': 'ENSG00000259548', 'score': 5.92}, {'connected_gene': 'ST20', 'score': 4.58}, {'connected_gene': 'RNU6-667P', 'score': 0.44}, {'connected_gene': 'GC15M079771', 'score': 0.29}]
chr15 GH15I079853 79853228 79854254 0.88 [{'connected_gene': 'MTHFS', 'score': 30.1}, {'connected_gene': 'RNU6-667P', 'score': 11.35}, {'connected_gene': 'BCL2A1', 'score': 10.79}, {'connected_gene': 'KIAA1024', 'score': 9.72}, {'connected_gene': 'GC15P079856', 'score': 0.77}, {'connected_gene': 'ENSG00000261229', 'score': 0.44}, {'connected_gene': 'GC15M079834', 'score': 0.39}, {'connected_gene': 'ST20-MTHFS', 'score': 0.19}]
chr15 GH15I078968 78968625 78969276 0.56 [{'connected_gene': 'MTHFS', 'score': 4.4}, {'connected_gene': 'LOC100129540', 'score': 0.44}, {'connected_gene': 'GC15M078960', 'score': 0.44}, {'connected_gene': 'RASGRF1', 'score': 0.13}]
chr15 GH15I080439 80439270 80448032 0.81 [{'connected_gene': 'ENSG00000258010', 'score': 550.77}, {'connected_gene': 'ARNT2', 'score': 11.07}, {'connected_gene': 'CEMIP', 'score': 10.7}, {'connected_gene': 'ST20', 'score': 5.72}, {'connected_gene': 'MTHFS', 'score': 4.42}, {'connected_gene': 'GC15M080442', 'score': 0.77}]
chr15 GH15I079864 79864019 79864168 0.43 [{'connected_gene': 'GC15M079834', 'score': 550.77}, {'connected_gene': 'BCL2A1', 'score': 10.74}, {'connected_gene': 'RNU6-667P', 'score': 10.69}, {'connected_gene': 'ENSG00000279394', 'score': 0.39}, {'connected_gene': 'MTHFS', 'score': 0.29}, {'connected_gene': 'ST20-MTHFS', 'score': 0.22}]
chr15 GH15I079856 79856922 79856976 0.22 [{'connected_gene': 'GC15P079856', 'score': 550.77}, {'connected_gene': 'RNU6-667P', 'score': 11.42}, {'connected_gene': 'ST20', 'score': 4.69}, {'connected_gene': 'ST20-MTHFS', 'score': 2.55}, {'connected_gene': 'MTHFS', 'score': 1.98}, {'connected_gene': 'GC15M079834', 'score': 0.44}, {'connected_gene': 'ENSG00000261229', 'score': 0.39}]
chr15 GH15I079881 79881339 79881488 0.69 [{'connected_gene': 'ENSG00000279394', 'score': 0.77}, {'connected_gene': 'MTHFS', 'score': 0.37}, {'connected_gene': 'ST20-MTHFS', 'score': 0.26}]
chr15 GH15I079873 79873785 79874031 0.31 [{'connected_gene': 'ENSG00000279394', 'score': 0.77}, {'connected_gene': 'GC15M079834', 'score': 0.44}, {'connected_gene': 'MTHFS', 'score': 0.34}, {'connected_gene': 'ST20-MTHFS', 'score': 0.25}]
chr15 GH15I079874 79874379 79874588 0.56 [{'connected_gene': 'ENSG00000279394', 'score': 0.77}, {'connected_gene': 'GC15M079834', 'score': 0.39}, {'connected_gene': 'MTHFS', 'score': 0.34}, {'connected_gene': 'ST20-MTHFS', 'score': 0.25}]