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
ENST00000285243 [[48770550, 48773504], [48774300, 48774482], [48776759, 48777254], [48777928, 48778077], [48784881, 48785285]] [[48773357, 48773504], [48774300, 48774482], [48776759, 48777254], [48777928, 48778077], [48784881, 48785015]]
ENST00000513072 [[48776937, 48777254], [48777928, 48778459]] [[48776937, 48777254], [48777928, 48777977]]
ENST00000507114 [[48777645, 48778077], [48784881, 48785016]] None
NM_052855 [[48770550, 48773504], [48774300, 48774482], [48776759, 48777254], [48777928, 48778077], [48784881, 48785270]] [[48773357, 48773504], [48774300, 48774482], [48776759, 48777254], [48777928, 48778077], [48784881, 48785015]]
Promoter
Chrom Start End Description
chr17 48784989 48785031 CAGE_peak_2_at_ANKRD40_5end
chr17 48785119 48785137 CAGE_peak_4_at_ANKRD40_5end
chr17 48785153 48785185 CAGE_peak_3_at_ANKRD40_5end
chr17 48785216 48785291 CAGE_peak_1_at_ANKRD40_5end
chr17 48785333 48785344 CAGE_peak_5_at_ANKRD40_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I050743 50743430 50744251 0.31 [{'connected_gene': 'ANKRD40', 'score': 8.82}, {'connected_gene': 'ABCC3', 'score': 8.29}, {'connected_gene': 'GC17P050753', 'score': 0.44}, {'connected_gene': 'ENSG00000278963', 'score': 0.34}, {'connected_gene': 'LUC7L3', 'score': 0.34}]
chr17 GH17I050731 50731559 50732991 1.09 [{'connected_gene': 'ANKRD40', 'score': 5.81}, {'connected_gene': 'ENSG00000278963', 'score': 0.39}, {'connected_gene': 'LUC7L3', 'score': 0.39}, {'connected_gene': 'GC17P050753', 'score': 0.34}]
chr17 GH17I050706 50706515 50710026 2.32 [{'connected_gene': 'ANKRD40', 'score': 573.08}, {'connected_gene': 'UTP18', 'score': 12.59}, {'connected_gene': 'PICART1', 'score': 9.84}, {'connected_gene': 'LOC105371824', 'score': 9.78}, {'connected_gene': 'MBTD1', 'score': 9.71}, {'connected_gene': 'ABCC3', 'score': 4.66}, {'connected_gene': 'NME2', 'score': 4.44}, {'connected_gene': 'LUC7L3', 'score': 0.39}]
chr17 GH17I050783 50783001 50783601 1.05 [{'connected_gene': 'ANKRD40', 'score': 14.69}, {'connected_gene': 'WFIKKN2', 'score': 12.1}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.27}, {'connected_gene': 'CACNA1G', 'score': 10.27}, {'connected_gene': 'MBTD1', 'score': 10.17}, {'connected_gene': 'LOC105371824', 'score': 9.81}, {'connected_gene': 'SPATA20', 'score': 9.81}, {'connected_gene': 'EPN3', 'score': 9.81}, {'connected_gene': 'ENSG00000248702', 'score': 0.39}, {'connected_gene': 'MIR8059', 'score': 0.39}]
chr17 GH17I050683 50683580 50697504 1.47 [{'connected_gene': 'ABCC3', 'score': 25.34}, {'connected_gene': 'ANKRD40', 'score': 21.13}, {'connected_gene': 'EPN3', 'score': 15.61}, {'connected_gene': 'LUC7L3', 'score': 12.25}, {'connected_gene': 'LOC101927253', 'score': 12.04}, {'connected_gene': 'SPATA20', 'score': 11.46}, {'connected_gene': 'LOC105371824', 'score': 11.45}, {'connected_gene': 'ENSG00000250976', 'score': 11.44}, {'connected_gene': 'CACNA1G-AS1', 'score': 11.44}, {'connected_gene': 'CACNA1G', 'score': 11.28}, {'connected_gene': 'MYCBPAP', 'score': 11.26}, {'connected_gene': 'ACSF2', 'score': 11.06}, {'connected_gene': 'CHAD', 'score': 10.12}, {'connected_gene': 'WFIKKN2', 'score': 9.72}, {'connected_gene': 'ENSG00000262967', 'score': 0.77}, {'connected_gene': 'GC17P050698', 'score': 0.44}, {'connected_gene': 'ENSG00000201340', 'score': 0.44}, {'connected_gene': 'GC17P050663', 'score': 0.31}]
chr17 GH17I050672 50672783 50673896 0.46 [{'connected_gene': 'ABCC3', 'score': 13.92}, {'connected_gene': 'ANKRD40', 'score': 8.1}, {'connected_gene': 'GC17P050663', 'score': 0.39}, {'connected_gene': 'ENSG00000262967', 'score': 0.34}]
chr17 GH17I050633 50633883 50644020 2.52 [{'connected_gene': 'ABCC3', 'score': 569.9}, {'connected_gene': 'MBTD1', 'score': 17.15}, {'connected_gene': 'ENSG00000262837', 'score': 15.82}, {'connected_gene': 'CHAD', 'score': 11.59}, {'connected_gene': 'MYCBPAP', 'score': 11.36}, {'connected_gene': 'ENSG00000249451', 'score': 11.36}, {'connected_gene': 'CACNA1G-AS1', 'score': 11.05}, {'connected_gene': 'CACNA1G', 'score': 11.05}, {'connected_gene': 'SPATA20', 'score': 10.85}, {'connected_gene': 'LOC105371824', 'score': 10.85}, {'connected_gene': 'EPN3', 'score': 10.84}, {'connected_gene': 'ANKRD40', 'score': 10.67}, {'connected_gene': 'ACSF2', 'score': 10.51}, {'connected_gene': 'LUC7L3', 'score': 10.12}, {'connected_gene': 'SPAG9', 'score': 6.13}, {'connected_gene': 'GC17P050663', 'score': 0.34}]
chr17 GH17I050682 50682419 50683129 0.65 [{'connected_gene': 'ABCC3', 'score': 12.07}, {'connected_gene': 'LOC101927253', 'score': 12.05}, {'connected_gene': 'ANKRD40', 'score': 11.72}, {'connected_gene': 'SPATA20', 'score': 11.45}, {'connected_gene': 'LOC105371824', 'score': 11.44}, {'connected_gene': 'EPN3', 'score': 11.43}, {'connected_gene': 'MYCBPAP', 'score': 10.66}, {'connected_gene': 'ENSG00000262967', 'score': 0.39}, {'connected_gene': 'GC17P050663', 'score': 0.37}]
chr17 GH17I050699 50699258 50699876 0.66 [{'connected_gene': 'ABCC3', 'score': 11.25}, {'connected_gene': 'LOC101927253', 'score': 11.24}, {'connected_gene': 'CACNA1G-AS1', 'score': 11.07}, {'connected_gene': 'CACNA1G', 'score': 11.07}, {'connected_gene': 'EPN3', 'score': 10.58}, {'connected_gene': 'MYCBPAP', 'score': 10.53}, {'connected_gene': 'ENSG00000201340', 'score': 0.77}, {'connected_gene': 'ANKRD40', 'score': 0.44}]
chr17 GH17I050507 50507546 50512509 1.99 [{'connected_gene': 'MYCBPAP', 'score': 575.45}, {'connected_gene': 'ENSG00000249451', 'score': 550.77}, {'connected_gene': 'EPN3', 'score': 24.64}, {'connected_gene': 'RSAD1', 'score': 11.89}, {'connected_gene': 'ACSF2', 'score': 11.77}, {'connected_gene': 'LOC105371824', 'score': 11.51}, {'connected_gene': 'SPATA20', 'score': 11.49}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.98}, {'connected_gene': 'CACNA1G', 'score': 10.98}, {'connected_gene': 'CHAD', 'score': 10.95}, {'connected_gene': 'ANKRD40', 'score': 10.69}, {'connected_gene': 'ENSG00000253102', 'score': 9.8}, {'connected_gene': 'WFIKKN2', 'score': 9.11}]
chr17 GH17I050451 50451688 50453913 1.09 [{'connected_gene': 'ACSF2', 'score': 35.18}, {'connected_gene': 'ENSG00000253102', 'score': 11.01}, {'connected_gene': 'MYCBPAP', 'score': 10.62}, {'connected_gene': 'EPN3', 'score': 10.6}, {'connected_gene': 'LOC105371824', 'score': 10.58}, {'connected_gene': 'SPATA20', 'score': 10.57}, {'connected_gene': 'ANKRD40', 'score': 4.86}, {'connected_gene': 'MRPS21P9', 'score': 0.77}, {'connected_gene': 'CHAD', 'score': 0.37}]
chr17 GH17I050423 50423535 50430450 2.05 [{'connected_gene': 'ACSF2', 'score': 559.39}, {'connected_gene': 'MBTD1', 'score': 36.55}, {'connected_gene': 'ENSG00000262837', 'score': 32.04}, {'connected_gene': 'RSAD1', 'score': 25.37}, {'connected_gene': 'UTP18', 'score': 19.75}, {'connected_gene': 'XYLT2', 'score': 15.29}, {'connected_gene': 'CHAD', 'score': 11.71}, {'connected_gene': 'ENSG00000253102', 'score': 11.48}, {'connected_gene': 'FAM117A', 'score': 11.47}, {'connected_gene': 'LRRC59', 'score': 11.31}, {'connected_gene': 'LUC7L3', 'score': 10.95}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.43}, {'connected_gene': 'EPN3', 'score': 10.34}, {'connected_gene': 'MYCBPAP', 'score': 10.16}, {'connected_gene': 'FLJ45513', 'score': 10.15}, {'connected_gene': 'CACNA1G', 'score': 10.06}, {'connected_gene': 'ANKRD40', 'score': 4.9}, {'connected_gene': 'SLC35B1', 'score': 4.56}, {'connected_gene': 'MRPS21P9', 'score': 0.34}]
chr17 GH17I050513 50513572 50515629 0.85 [{'connected_gene': 'SPATA20', 'score': 26.88}, {'connected_gene': 'MYCBPAP', 'score': 18.13}, {'connected_gene': 'EPN3', 'score': 14.59}, {'connected_gene': 'RSAD1', 'score': 11.87}, {'connected_gene': 'ACSF2', 'score': 11.76}, {'connected_gene': 'LOC105371824', 'score': 11.54}, {'connected_gene': 'CACNA1G-AS1', 'score': 11.0}, {'connected_gene': 'CACNA1G', 'score': 11.0}, {'connected_gene': 'CHAD', 'score': 10.95}, {'connected_gene': 'ANKRD40', 'score': 10.69}, {'connected_gene': 'ENSG00000253102', 'score': 9.79}, {'connected_gene': 'WFIKKN2', 'score': 9.11}]
chr17 GH17I050627 50627600 50631527 1.36 [{'connected_gene': 'SPATA20', 'score': 24.09}, {'connected_gene': 'EPN3', 'score': 17.16}, {'connected_gene': 'LOC105371824', 'score': 11.61}, {'connected_gene': 'CACNA1G-AS1', 'score': 11.29}, {'connected_gene': 'CACNA1G', 'score': 11.29}, {'connected_gene': 'ANKRD40', 'score': 11.23}, {'connected_gene': 'MYCBPAP', 'score': 10.9}, {'connected_gene': 'ABCC3', 'score': 10.85}, {'connected_gene': 'CHAD', 'score': 10.31}, {'connected_gene': 'ACSF2', 'score': 10.29}, {'connected_gene': 'LOC101927253', 'score': 0.77}, {'connected_gene': 'ENSG00000250976', 'score': 0.2}]
chr17 GH17I050395 50395451 50398169 2.13 [{'connected_gene': 'LRRC59', 'score': 550.77}, {'connected_gene': 'ENSG00000253102', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 56.74}, {'connected_gene': 'MBTD1', 'score': 45.06}, {'connected_gene': 'LOC105371824', 'score': 31.59}, {'connected_gene': 'LUC7L3', 'score': 30.71}, {'connected_gene': 'CACNA1G-AS1', 'score': 22.11}, {'connected_gene': 'UTP18', 'score': 21.14}, {'connected_gene': 'FLJ45513', 'score': 20.93}, {'connected_gene': 'FAM117A', 'score': 20.37}, {'connected_gene': 'XYLT2', 'score': 18.52}, {'connected_gene': 'EIF4EP2', 'score': 16.92}, {'connected_gene': 'EME1', 'score': 16.67}, {'connected_gene': 'COL1A1', 'score': 10.62}, {'connected_gene': 'PICART1', 'score': 9.86}, {'connected_gene': 'ENSG00000249451', 'score': 9.79}, {'connected_gene': 'NXPH3', 'score': 9.75}, {'connected_gene': 'SAMD14', 'score': 9.74}, {'connected_gene': 'ANKRD40', 'score': 4.71}]
chr17 GH17I050420 50420441 50422549 0.95 [{'connected_gene': 'LRRC59', 'score': 12.52}, {'connected_gene': 'ENSG00000253102', 'score': 12.49}, {'connected_gene': 'CHAD', 'score': 10.81}, {'connected_gene': 'ACSF2', 'score': 9.8}, {'connected_gene': 'ANKRD40', 'score': 4.26}]
chr17 GH17I050716 50716307 50717390 0.96 [{'connected_gene': 'LUC7L3', 'score': 0.77}, {'connected_gene': 'ANKRD40', 'score': 0.44}]
chr17 GH17I050718 50718909 50722165 2.29 [{'connected_gene': 'LUC7L3', 'score': 550.77}, {'connected_gene': 'ENSG00000278963', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 22.81}, {'connected_gene': 'MBTD1', 'score': 22.24}, {'connected_gene': 'ANKRD40', 'score': 20.61}, {'connected_gene': 'FAM117A', 'score': 13.93}, {'connected_gene': 'FLJ45513', 'score': 12.82}, {'connected_gene': 'UTP18', 'score': 12.59}, {'connected_gene': 'TAC4', 'score': 10.5}, {'connected_gene': 'ABCC3', 'score': 5.02}]
chr17 GH17I050670 50670532 50672080 1.06 [{'connected_gene': 'NME2', 'score': 10.78}, {'connected_gene': 'ANKRD40', 'score': 8.46}, {'connected_gene': 'GC17P050663', 'score': 0.44}, {'connected_gene': 'ENSG00000262967', 'score': 0.34}, {'connected_gene': 'ABCC3', 'score': 0.28}]
chr17 GH17I050703 50703529 50704600 0.46 [{'connected_gene': 'CACNA1G-AS1', 'score': 10.99}, {'connected_gene': 'CACNA1G', 'score': 10.99}, {'connected_gene': 'LOC105371824', 'score': 10.63}, {'connected_gene': 'SPATA20', 'score': 10.62}, {'connected_gene': 'EPN3', 'score': 10.62}, {'connected_gene': 'ABCC3', 'score': 10.62}, {'connected_gene': 'LOC101927253', 'score': 10.6}, {'connected_gene': 'MYCBPAP', 'score': 10.18}, {'connected_gene': 'ANKRD40', 'score': 0.77}, {'connected_gene': 'ENSG00000201340', 'score': 0.44}]
chr17 GH17I050781 50781201 50781600 0.31 [{'connected_gene': 'WFIKKN2', 'score': 12.1}, {'connected_gene': 'ANKRD40', 'score': 10.49}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.27}, {'connected_gene': 'CACNA1G', 'score': 10.27}, {'connected_gene': 'LOC105371824', 'score': 9.81}, {'connected_gene': 'SPATA20', 'score': 9.81}, {'connected_gene': 'EPN3', 'score': 9.81}, {'connected_gene': 'MIR8059', 'score': 0.39}, {'connected_gene': 'ENSG00000248702', 'score': 0.37}]
chr17 GH17I050779 50779897 50780443 0.2 [{'connected_gene': 'WFIKKN2', 'score': 12.1}, {'connected_gene': 'ANKRD40', 'score': 10.49}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.27}, {'connected_gene': 'CACNA1G', 'score': 10.27}, {'connected_gene': 'LOC105371824', 'score': 9.81}, {'connected_gene': 'SPATA20', 'score': 9.81}, {'connected_gene': 'EPN3', 'score': 9.81}, {'connected_gene': 'MIR8059', 'score': 0.39}, {'connected_gene': 'ENSG00000248702', 'score': 0.37}]
chr17 GH17I050785 50785587 50787594 0.6 [{'connected_gene': 'WFIKKN2', 'score': 12.35}, {'connected_gene': 'NME1', 'score': 10.18}, {'connected_gene': 'NME1-NME2', 'score': 10.18}, {'connected_gene': 'NME2', 'score': 10.18}, {'connected_gene': 'SPATA20', 'score': 10.17}, {'connected_gene': 'EPN3', 'score': 10.16}, {'connected_gene': 'LOC105371824', 'score': 10.16}, {'connected_gene': 'ANKRD40', 'score': 4.43}, {'connected_gene': 'ENSG00000248702', 'score': 0.39}, {'connected_gene': 'MIR8059', 'score': 0.37}]
chr17 GH17I050681 50681100 50682209 1.28 [{'connected_gene': 'LOC101927253', 'score': 12.07}, {'connected_gene': 'ABCC3', 'score': 12.07}, {'connected_gene': 'ANKRD40', 'score': 11.72}, {'connected_gene': 'SPATA20', 'score': 11.45}, {'connected_gene': 'EPN3', 'score': 11.44}, {'connected_gene': 'LOC105371824', 'score': 11.44}, {'connected_gene': 'MYCBPAP', 'score': 10.66}, {'connected_gene': 'ENSG00000262967', 'score': 0.39}, {'connected_gene': 'GC17P050663', 'score': 0.37}]
chr17 GH17I050659 50659555 50664404 1.47 [{'connected_gene': 'GC17P050663', 'score': 550.77}, {'connected_gene': 'ABCC3', 'score': 18.0}, {'connected_gene': 'ANKRD40', 'score': 16.99}, {'connected_gene': 'EME1', 'score': 12.11}, {'connected_gene': 'LOC101927253', 'score': 11.92}, {'connected_gene': 'UTP18', 'score': 11.03}, {'connected_gene': 'NME2', 'score': 10.77}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.75}, {'connected_gene': 'CACNA1G', 'score': 10.74}, {'connected_gene': 'EPN3', 'score': 10.61}, {'connected_gene': 'SPATA20', 'score': 10.61}, {'connected_gene': 'LOC105371824', 'score': 10.61}, {'connected_gene': 'ACSF2', 'score': 10.61}, {'connected_gene': 'MYCBPAP', 'score': 10.53}, {'connected_gene': 'MBTD1', 'score': 10.47}, {'connected_gene': 'CHAD', 'score': 10.21}, {'connected_gene': 'WFIKKN2', 'score': 10.1}]
chr17 GH17I050697 50697920 50698387 0.49 [{'connected_gene': 'GC17P050698', 'score': 550.77}, {'connected_gene': 'ENSG00000201340', 'score': 550.77}, {'connected_gene': 'ABCC3', 'score': 11.25}, {'connected_gene': 'LOC101927253', 'score': 11.24}, {'connected_gene': 'CACNA1G-AS1', 'score': 11.07}, {'connected_gene': 'CACNA1G', 'score': 11.07}, {'connected_gene': 'EPN3', 'score': 10.58}, {'connected_gene': 'MYCBPAP', 'score': 10.54}, {'connected_gene': 'ANKRD40', 'score': 0.44}]

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