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
ENST00000448427 [[27994605, 27994666], [27995540, 27995559], [28005438, 28005561], [28117399, 28117551], [28152698, 28152775], [28210859, 28210954]] [[27994644, 27994666], [27995540, 27995559], [28005438, 28005561], [28117399, 28117445]]
ENST00000379666 [[27994583, 27994666], [27995540, 27995559], [28002299, 28002601]] [[27994644, 27994666], [27995540, 27995559], [28002299, 28002423]]
ENST00000296102 [[27994583, 27994666], [27995540, 27995559], [27997290, 27997397], [28002299, 28002608]] [[27994644, 27994666], [27995540, 27995559], [27997290, 27997397], [28002299, 28002349]]
ENST00000472192 [[27994610, 27994666], [27995540, 27995722]] None
ENST00000483992 [[27994841, 27995252], [27995540, 27995559], [28002299, 28002598]] None
ENST00000476552 [[27995056, 27995252], [27995540, 27995559], [27997290, 27997397], [28002299, 28002564]] None
NM_145330 [[27994583, 27994666], [27995540, 27995559], [28002299, 28002608]] [[27994644, 27994666], [27995540, 27995559], [28002299, 28002423]]
NM_004891 [[27994583, 27994666], [27995540, 27995559], [27997290, 27997397], [28002299, 28002608]] [[27994644, 27994666], [27995540, 27995559], [27997290, 27997397], [28002299, 28002349]]
Promoter
Chrom Start End Description
chr2 27994549 27994560 CAGE_peak_3_at_MRPL33_5end
chr2 27994567 27994641 CAGE_peak_1_at_MRPL33_5end
chr2 27994656 27994667 CAGE_peak_4_at_MRPL33_5end
chr2 27994811 27994897 CAGE_peak_2_at_MRPL33_5end
chr2 27995173 27995197 CAGE_peak_5_at_MRPL33_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I027719 27719490 27722005 1.66 [{'connected_gene': 'SUPT7L', 'score': 55.03}, {'connected_gene': 'CAD', 'score': 44.01}, {'connected_gene': 'ZNF512', 'score': 39.33}, {'connected_gene': 'EIF2B4', 'score': 35.14}, {'connected_gene': 'GPN1', 'score': 31.87}, {'connected_gene': 'GTF3C2', 'score': 25.12}, {'connected_gene': 'ZNF513', 'score': 24.26}, {'connected_gene': 'AGBL5', 'score': 23.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 22.82}, {'connected_gene': 'LOC105374363', 'score': 18.86}, {'connected_gene': 'ENSG00000272148', 'score': 14.04}, {'connected_gene': 'IFT172', 'score': 12.78}, {'connected_gene': 'PPM1G', 'score': 12.66}, {'connected_gene': 'AGBL5-IT1', 'score': 11.41}, {'connected_gene': 'C2orf16', 'score': 11.21}, {'connected_gene': 'SNX17', 'score': 11.2}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'RBKS', 'score': 6.1}, {'connected_gene': 'LINC01460', 'score': 0.77}, {'connected_gene': 'LOC105374378', 'score': 0.77}, {'connected_gene': 'MRPL33', 'score': 0.23}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027747 27747558 27748412 0.2 [{'connected_gene': 'MRPL33', 'score': 13.35}, {'connected_gene': 'SNX17', 'score': 8.99}, {'connected_gene': 'LINC01460', 'score': 0.29}, {'connected_gene': 'LOC105374378', 'score': 0.29}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027794 27794940 27801566 1.64 [{'connected_gene': 'MRPL33', 'score': 15.8}, {'connected_gene': 'FNDC4', 'score': 11.05}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'SNX17', 'score': 8.65}, {'connected_gene': 'RBKS', 'score': 5.9}, {'connected_gene': 'ATRAID', 'score': 4.25}, {'connected_gene': 'GC02P027841', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027770 27770865 27774256 2.28 [{'connected_gene': 'MRPL33', 'score': 550.77}, {'connected_gene': 'FNDC4', 'score': 9.32}, {'connected_gene': 'GC02P027841', 'score': 0.2}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027792 27792601 27793001 0.51 [{'connected_gene': 'MRPL33', 'score': 11.79}, {'connected_gene': 'SLC4A1AP', 'score': 4.76}, {'connected_gene': 'GC02P027841', 'score': 0.25}, {'connected_gene': 'RBKS', 'score': 0.15}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027722 27722914 27725814 1.3 [{'connected_gene': 'MRPL33', 'score': 11.93}, {'connected_gene': 'LINC01460', 'score': 0.44}, {'connected_gene': 'LOC105374378', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2 GH02I027734 27734974 27739232 1.62 [{'connected_gene': 'MRPL33', 'score': 11.95}, {'connected_gene': 'LINC01460', 'score': 11.85}, {'connected_gene': 'LOC102723530', 'score': 11.66}, {'connected_gene': 'SNRPGP7', 'score': 11.65}, {'connected_gene': 'PLB1', 'score': 11.65}, {'connected_gene': 'FLJ31356', 'score': 11.36}, {'connected_gene': 'FOSL2', 'score': 11.36}, {'connected_gene': 'FNDC4', 'score': 7.74}, {'connected_gene': 'RBKS', 'score': 2.14}, {'connected_gene': 'LOC105374378', 'score': 0.34}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2 GH02I027775 27775923 27776898 0.66 [{'connected_gene': 'MRPL33', 'score': 0.77}, {'connected_gene': 'GC02P027841', 'score': 0.2}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027756 27756377 27757988 1.06 [{'connected_gene': 'CAD', 'score': 15.86}, {'connected_gene': 'LOC105374363', 'score': 14.41}, {'connected_gene': 'EIF2B4', 'score': 14.24}, {'connected_gene': 'GTF3C2', 'score': 12.0}, {'connected_gene': 'TMEM214', 'score': 11.84}, {'connected_gene': 'GPN1', 'score': 11.03}, {'connected_gene': 'SUPT7L', 'score': 10.79}, {'connected_gene': 'ZNF512', 'score': 10.21}, {'connected_gene': 'SNX17', 'score': 5.34}, {'connected_gene': 'TRIM54', 'score': 4.32}, {'connected_gene': 'MRPL33', 'score': 0.39}, {'connected_gene': 'LINC01460', 'score': 0.26}, {'connected_gene': 'LOC105374378', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027778 27778677 27780993 0.83 [{'connected_gene': 'FNDC4', 'score': 9.04}, {'connected_gene': 'SNX17', 'score': 6.41}, {'connected_gene': 'MRPL33', 'score': 0.44}, {'connected_gene': 'GC02P027841', 'score': 0.21}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027929 27929059 27933392 0.72 [{'connected_gene': 'FNDC4', 'score': 6.12}, {'connected_gene': 'SNX17', 'score': 5.96}, {'connected_gene': 'LOC105374369', 'score': 0.39}, {'connected_gene': 'LOC100420770', 'score': 0.29}, {'connected_gene': 'BABAM2', 'score': 0.26}, {'connected_gene': 'MRPL33', 'score': 0.1}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027726 27726995 27731561 1.19 [{'connected_gene': 'FNDC4', 'score': 6.13}, {'connected_gene': 'SNX17', 'score': 5.67}, {'connected_gene': 'LINC01460', 'score': 0.39}, {'connected_gene': 'LOC105374378', 'score': 0.39}, {'connected_gene': 'MRPL33', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027808 27808470 27811381 0.99 [{'connected_gene': 'FNDC4', 'score': 10.9}, {'connected_gene': 'GC02P027841', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.18}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027761 27761050 27764213 1.1 [{'connected_gene': 'FNDC4', 'score': 7.99}, {'connected_gene': 'MRPL33', 'score': 0.44}, {'connected_gene': 'LINC01460', 'score': 0.25}, {'connected_gene': 'LOC105374378', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027776 27776945 27777415 0.2 [{'connected_gene': 'FNDC4', 'score': 8.05}, {'connected_gene': 'MRPL33', 'score': 0.44}, {'connected_gene': 'GC02P027841', 'score': 0.21}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027831 27831220 27833253 0.69 [{'connected_gene': 'FNDC4', 'score': 9.13}, {'connected_gene': 'GC02P027841', 'score': 0.44}, {'connected_gene': 'RBKS', 'score': 0.22}, {'connected_gene': 'MRPL33', 'score': 0.21}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027751 27751237 27754799 1.39 [{'connected_gene': 'FNDC4', 'score': 8.23}, {'connected_gene': 'TRIM54', 'score': 4.3}, {'connected_gene': 'MRPL33', 'score': 0.37}, {'connected_gene': 'LINC01460', 'score': 0.28}, {'connected_gene': 'LOC105374378', 'score': 0.28}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027855 27855113 27858339 0.62 [{'connected_gene': 'FNDC4', 'score': 10.44}, {'connected_gene': 'KHK', 'score': 4.29}, {'connected_gene': 'GC02P027841', 'score': 0.39}, {'connected_gene': 'RBKS', 'score': 0.29}, {'connected_gene': 'BABAM2', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027765 27765336 27766878 1.15 [{'connected_gene': 'FNDC4', 'score': 9.73}, {'connected_gene': 'LOC105374363', 'score': 4.57}, {'connected_gene': 'MRPL33', 'score': 0.44}, {'connected_gene': 'LINC01460', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027965 27965736 27966383 0.58 [{'connected_gene': 'FNDC4', 'score': 9.14}, {'connected_gene': 'GC02M027983', 'score': 0.37}, {'connected_gene': 'LOC100422227', 'score': 0.37}, {'connected_gene': 'BABAM2', 'score': 0.18}, {'connected_gene': 'MRPL33', 'score': 0.08}, {'connected_gene': 'GC02M027478', 'score': 0.08}]
chr2 GH02I027972 27972936 27975089 0.31 [{'connected_gene': 'FNDC4', 'score': 6.06}, {'connected_gene': 'GC02M027983', 'score': 0.39}, {'connected_gene': 'LOC100422227', 'score': 0.34}, {'connected_gene': 'BABAM2', 'score': 0.18}, {'connected_gene': 'GC02M027478', 'score': 0.08}, {'connected_gene': 'MRPL33', 'score': 0.08}]
chr2 GH02I027727 27726200 27726665 0.2 [{'connected_gene': 'FNDC4', 'score': 6.17}, {'connected_gene': 'LINC01460', 'score': 0.44}, {'connected_gene': 'LOC105374378', 'score': 0.39}, {'connected_gene': 'MRPL33', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2 GH02I027860 27860276 27860426 0.55 [{'connected_gene': 'RBKS', 'score': 5.5}, {'connected_gene': 'GC02P027841', 'score': 0.37}, {'connected_gene': 'BABAM2', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027884 27884926 27892403 2.5 [{'connected_gene': 'RBKS', 'score': 550.77}, {'connected_gene': 'BABAM2', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 10.11}, {'connected_gene': 'KRTCAP3', 'score': 5.24}, {'connected_gene': 'FNDC4', 'score': 5.23}, {'connected_gene': 'SLC4A1AP', 'score': 4.45}, {'connected_gene': 'BRE-AS1', 'score': 0.77}, {'connected_gene': 'GC02P027841', 'score': 0.25}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027854 27854547 27854767 0.45 [{'connected_gene': 'RBKS', 'score': 2.67}, {'connected_gene': 'ZNF513', 'score': 1.11}, {'connected_gene': 'GC02P027841', 'score': 0.39}, {'connected_gene': 'BABAM2', 'score': 0.28}, {'connected_gene': 'MRPL33', 'score': 0.18}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027946 27946401 27947000 0.58 [{'connected_gene': 'KHK', 'score': 5.37}, {'connected_gene': 'LOC105374369', 'score': 0.77}, {'connected_gene': 'LOC100422227', 'score': 0.77}, {'connected_gene': 'BABAM2', 'score': 0.22}, {'connected_gene': 'MRPL33', 'score': 0.09}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027915 27915889 27917479 0.84 [{'connected_gene': 'GTF3C2', 'score': 20.49}, {'connected_gene': 'CAD', 'score': 15.61}, {'connected_gene': 'SNX17', 'score': 14.36}, {'connected_gene': 'LOC105374363', 'score': 14.34}, {'connected_gene': 'NRBP1', 'score': 13.61}, {'connected_gene': 'TMEM214', 'score': 13.02}, {'connected_gene': 'GPN1', 'score': 12.46}, {'connected_gene': 'EIF2B4', 'score': 12.04}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.64}, {'connected_gene': 'WDR43', 'score': 9.8}, {'connected_gene': 'FNDC4', 'score': 5.26}, {'connected_gene': 'LOC100420770', 'score': 0.37}, {'connected_gene': 'LOC105374369', 'score': 0.31}, {'connected_gene': 'BABAM2', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027901 27901225 27901607 0.46 [{'connected_gene': 'FOSL2', 'score': 15.97}, {'connected_gene': 'FNDC4', 'score': 9.18}, {'connected_gene': 'RBKS', 'score': 6.73}, {'connected_gene': 'LOC100420770', 'score': 0.77}, {'connected_gene': 'BABAM2', 'score': 0.39}, {'connected_gene': 'LOC105374369', 'score': 0.26}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027919 27919683 27923043 1.2 [{'connected_gene': 'FOSL2', 'score': 19.79}, {'connected_gene': 'RBKS', 'score': 11.01}, {'connected_gene': 'SNX17', 'score': 7.37}, {'connected_gene': 'FNDC4', 'score': 6.12}, {'connected_gene': 'BABAM2', 'score': 2.31}, {'connected_gene': 'LOC100420770', 'score': 0.34}, {'connected_gene': 'LOC105374369', 'score': 0.34}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027953 27953002 27961463 1.59 [{'connected_gene': 'FOSL2', 'score': 32.84}, {'connected_gene': 'RBKS', 'score': 12.19}, {'connected_gene': 'FLJ31356', 'score': 11.37}, {'connected_gene': 'FNDC4', 'score': 9.12}, {'connected_gene': 'C2orf16', 'score': 5.89}, {'connected_gene': 'CGREF1', 'score': 4.07}, {'connected_gene': 'LINC01460', 'score': 4.0}, {'connected_gene': 'BABAM2', 'score': 1.36}, {'connected_gene': 'GCKR', 'score': 1.14}, {'connected_gene': 'LOC100422227', 'score': 0.44}, {'connected_gene': 'GC02M027983', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.09}, {'connected_gene': 'GC02M027478', 'score': 0.08}]
chr2 GH02I027914 27914200 27914802 0.8 [{'connected_gene': 'FOSL2', 'score': 13.64}, {'connected_gene': 'RBKS', 'score': 6.4}, {'connected_gene': 'SLC4A1AP', 'score': 4.47}, {'connected_gene': 'LOC100420770', 'score': 0.37}, {'connected_gene': 'BABAM2', 'score': 0.34}, {'connected_gene': 'LOC105374369', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027875 27875614 27875763 0.82 [{'connected_gene': 'SLC4A1AP', 'score': 4.18}, {'connected_gene': 'BABAM2', 'score': 0.39}, {'connected_gene': 'RBKS', 'score': 0.37}, {'connected_gene': 'GC02P027841', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.15}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027943 27943201 27943400 0.31 [{'connected_gene': 'LOC105374369', 'score': 550.77}, {'connected_gene': 'LOC100422227', 'score': 0.44}, {'connected_gene': 'BABAM2', 'score': 0.23}, {'connected_gene': 'MRPL33', 'score': 0.09}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027801 27801946 27802023 0.49 [{'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'FNDC4', 'score': 9.89}, {'connected_gene': 'MRPL33', 'score': 5.9}, {'connected_gene': 'CCDC121', 'score': 2.87}, {'connected_gene': 'IFT172', 'score': 2.6}, {'connected_gene': 'ZNF512', 'score': 1.86}, {'connected_gene': 'SLC4A1AP', 'score': 1.85}, {'connected_gene': 'SUPT7L', 'score': 1.64}, {'connected_gene': 'GPN1', 'score': 1.23}, {'connected_gene': 'GC02P027841', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027803 27803001 27804000 0.4 [{'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'MRPL33', 'score': 0.29}, {'connected_gene': 'GC02P027841', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027962 27962200 27962400 0.63 [{'connected_gene': 'LOC100422227', 'score': 0.39}, {'connected_gene': 'GC02M027983', 'score': 0.34}, {'connected_gene': 'BABAM2', 'score': 0.19}, {'connected_gene': 'MRPL33', 'score': 0.08}, {'connected_gene': 'GC02M027478', 'score': 0.08}]
chr2 GH02I027950 27950301 27951416 0.38 [{'connected_gene': 'LOC100422227', 'score': 550.77}, {'connected_gene': 'FNDC4', 'score': 4.16}, {'connected_gene': 'GC02M027983', 'score': 0.29}, {'connected_gene': 'BABAM2', 'score': 0.21}, {'connected_gene': 'MRPL33', 'score': 0.1}, {'connected_gene': 'GC02M027478', 'score': 0.08}]
chr2 GH02I027911 27911914 27912063 0.31 [{'connected_gene': 'LOC100420770', 'score': 0.39}, {'connected_gene': 'BABAM2', 'score': 0.34}, {'connected_gene': 'LOC105374369', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027897 27897401 27898503 0.79 [{'connected_gene': 'LOC100420770', 'score': 550.77}, {'connected_gene': 'FOSL2', 'score': 13.27}, {'connected_gene': 'RBKS', 'score': 7.98}, {'connected_gene': 'LINC01460', 'score': 4.01}, {'connected_gene': 'BABAM2', 'score': 0.44}, {'connected_gene': 'LOC105374369', 'score': 0.26}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027916 27915314 27915463 0.31 [{'connected_gene': 'LOC100420770', 'score': 0.37}, {'connected_gene': 'LOC105374369', 'score': 0.31}, {'connected_gene': 'BABAM2', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027893 27893094 27893373 0.42 [{'connected_gene': 'LOC100420770', 'score': 0.77}, {'connected_gene': 'BRE-AS1', 'score': 0.77}, {'connected_gene': 'BABAM2', 'score': 0.77}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027971 27971343 27972779 0.2 [{'connected_gene': 'GC02M027983', 'score': 0.39}, {'connected_gene': 'LOC100422227', 'score': 0.34}, {'connected_gene': 'BABAM2', 'score': 0.18}, {'connected_gene': 'GC02M027478', 'score': 0.08}, {'connected_gene': 'MRPL33', 'score': 0.08}]
chr2 GH02I027977 27977349 27978839 1.18 [{'connected_gene': 'GC02M027983', 'score': 0.44}, {'connected_gene': 'LOC100422227', 'score': 0.31}, {'connected_gene': 'BABAM2', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.08}, {'connected_gene': 'MRPL33', 'score': 0.08}]
chr2 GH02I027966 27966574 27966801 0.92 [{'connected_gene': 'GC02M027983', 'score': 0.37}, {'connected_gene': 'LOC100422227', 'score': 0.37}, {'connected_gene': 'BABAM2', 'score': 0.18}, {'connected_gene': 'MRPL33', 'score': 0.08}, {'connected_gene': 'GC02M027478', 'score': 0.08}]

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