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
ENST00000301071 [[49578578, 49579773], [49580092, 49580241], [49580393, 49580616], [49582759, 49583107]] [[49578792, 49579773], [49580092, 49580241], [49580393, 49580616], [49582759, 49582762]]
ENST00000295766 [[49578741, 49579773], [49580092, 49580241], [49580393, 49580616], [49582199, 49582682]] [[49578792, 49579773], [49580092, 49580241], [49580393, 49580616], [49582199, 49582202]]
ENST00000550767 [[49578792, 49579773], [49580092, 49580241], [49580393, 49580647]] [[49578792, 49579773], [49580092, 49580241], [49580393, 49580514]]
ENST00000547939 [[49579384, 49579773], [49580092, 49580241], [49580393, 49580616], [49580772, 49580867], [49582759, 49582849]] [[49579384, 49579773], [49580092, 49580241], [49580393, 49580514]]
ENST00000546918 [[49579403, 49579773], [49580092, 49580616], [49582759, 49582849]] [[49579604, 49579773], [49580092, 49580616], [49582759, 49582762]]
ENST00000552924 [[49579707, 49579773], [49580092, 49580241], [49580393, 49580616], [49582671, 49582861]] [[49579707, 49579773], [49580092, 49580241], [49580393, 49580514]]
ENST00000548363 [[49579798, 49580241], [49580393, 49580616], [49582759, 49582766]] None
ENST00000550254 [[49579945, 49580616], [49582759, 49582784]] None
ENST00000550811 [[49580435, 49580616], [49580772, 49581241]] [[49580435, 49580514]]
NM_001270399 [[49578577, 49579773], [49580092, 49580241], [49580393, 49580616], [49582199, 49583107]] [[49578792, 49579773], [49580092, 49580241], [49580393, 49580616], [49582199, 49582202]]
NM_001270400 [[49578577, 49579773], [49580092, 49580241], [49580393, 49580616], [49582671, 49583107]] [[49578792, 49579773], [49580092, 49580241], [49580393, 49580514]]
NM_006009 [[49578577, 49579773], [49580092, 49580241], [49580393, 49580616], [49582759, 49583107]] [[49578792, 49579773], [49580092, 49580241], [49580393, 49580616], [49582759, 49582762]]
Promoter
Chrom Start End Description
chr12 49579471 49579510 CAGE_peak_8_at_TUBA1A_5end
chr12 49579639 49579664 CAGE_peak_9_at_TUBA1A_5end
chr12 49579761 49579773 CAGE_peak_6_at_TUBA1A_5end
chr12 49580194 49580236 CAGE_peak_5_at_TUBA1A_5end
chr12 49580269 49580316 CAGE_peak_14_at_TUBA1A_5end
chr12 49581152 49581188 CAGE_peak_13_at_TUBA1A_5end
chr12 49582225 49582269 CAGE_peak_7_at_TUBA1A_5end
chr12 49582273 49582301 CAGE_peak_3_at_TUBA1A_5end
chr12 49582593 49582607 CAGE_peak_17_at_TUBA1A_5end
chr12 49582787 49582816 CAGE_peak_2_at_TUBA1A_5end
chr12 49582837 49582875 CAGE_peak_1_at_TUBA1A_5end
chr12 49582978 49582985 CAGE_peak_4_at_TUBA1A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I049669 49669489 49676450 1.64 [{'connected_gene': 'FMNL3', 'score': 21.59}, {'connected_gene': 'TMBIM6', 'score': 13.65}, {'connected_gene': 'NCKAP5L', 'score': 11.28}, {'connected_gene': 'FAM186B', 'score': 10.32}, {'connected_gene': 'RNU6-834P', 'score': 10.3}, {'connected_gene': 'TUBA1C', 'score': 8.01}, {'connected_gene': 'ENSG00000257464', 'score': 7.55}, {'connected_gene': 'SPATS2', 'score': 7.13}, {'connected_gene': 'MCRS1', 'score': 5.51}, {'connected_gene': 'TUBA1A', 'score': 1.58}, {'connected_gene': 'COX14', 'score': 1.3}, {'connected_gene': 'PIR31660', 'score': 0.31}, {'connected_gene': 'LOC105369762', 'score': 0.29}]
chr12 GH12I048714 48714938 48718000 2.33 [{'connected_gene': 'CCNT1', 'score': 579.4}, {'connected_gene': 'KANSL2', 'score': 66.91}, {'connected_gene': 'LMBR1L', 'score': 48.76}, {'connected_gene': 'SENP1', 'score': 46.08}, {'connected_gene': 'DDX23', 'score': 43.15}, {'connected_gene': 'KMT2D', 'score': 41.11}, {'connected_gene': 'LOC390314', 'score': 24.55}, {'connected_gene': 'CCDC184', 'score': 15.18}, {'connected_gene': 'HDAC7', 'score': 12.81}, {'connected_gene': 'CACNB3', 'score': 11.56}, {'connected_gene': 'LOC102725258', 'score': 10.28}, {'connected_gene': 'TUBA1A', 'score': 9.96}, {'connected_gene': 'OR8T1P', 'score': 9.8}, {'connected_gene': 'GC12M048689', 'score': 0.34}]
chr12 GH12I049243 49243577 49246976 1.09 [{'connected_gene': 'TUBA1C', 'score': 19.0}, {'connected_gene': 'TUBA1A', 'score': 11.1}, {'connected_gene': 'PRPH', 'score': 10.83}, {'connected_gene': 'KMT2D', 'score': 10.42}, {'connected_gene': 'C1QL4', 'score': 10.32}, {'connected_gene': 'LOC105369760', 'score': 6.39}, {'connected_gene': 'ENSG00000258101', 'score': 0.37}, {'connected_gene': 'ENSG00000274017', 'score': 0.25}]
chr12 GH12I049230 49230400 49235927 1.82 [{'connected_gene': 'TUBA1C', 'score': 20.15}, {'connected_gene': 'LOC105369760', 'score': 14.32}, {'connected_gene': 'TUBA1A', 'score': 14.09}, {'connected_gene': 'LMBR1L', 'score': 12.32}, {'connected_gene': 'RHEBL1', 'score': 11.07}, {'connected_gene': 'TUBA1B', 'score': 4.3}, {'connected_gene': 'ENSG00000258101', 'score': 0.29}, {'connected_gene': 'ENSG00000274017', 'score': 0.28}]
chr12 GH12I049247 49247243 49247463 0.44 [{'connected_gene': 'TUBA1A', 'score': 11.1}, {'connected_gene': 'TUBA1C', 'score': 11.1}, {'connected_gene': 'PRPH', 'score': 10.81}, {'connected_gene': 'C1QL4', 'score': 10.33}, {'connected_gene': 'KMT2D', 'score': 10.31}, {'connected_gene': 'TUBA1B', 'score': 4.23}, {'connected_gene': 'ENSG00000258101', 'score': 0.37}, {'connected_gene': 'ENSG00000274017', 'score': 0.23}]
chr12 GH12I049186 49186366 49190642 2.45 [{'connected_gene': 'TUBA1A', 'score': 559.39}, {'connected_gene': 'TUBA1C', 'score': 550.77}, {'connected_gene': 'LOC105369760', 'score': 23.68}, {'connected_gene': 'CCNT1', 'score': 16.66}, {'connected_gene': 'LOC390314', 'score': 16.29}, {'connected_gene': 'DDX23', 'score': 15.44}, {'connected_gene': 'KANSL2', 'score': 11.75}, {'connected_gene': 'KMT2D', 'score': 11.4}, {'connected_gene': 'LMBR1L', 'score': 11.12}, {'connected_gene': 'SMARCD1', 'score': 10.6}, {'connected_gene': 'C1QL4', 'score': 5.27}, {'connected_gene': 'CACNB3', 'score': 2.57}, {'connected_gene': 'PRPF40B', 'score': 2.0}, {'connected_gene': 'GC12M049133', 'score': 0.22}, {'connected_gene': 'ENSG00000200309', 'score': 0.22}]
chr12 GH12I049364 49364697 49370567 2.29 [{'connected_gene': 'SPATS2', 'score': 559.85}, {'connected_gene': 'DDX23', 'score': 35.58}, {'connected_gene': 'CCNT1', 'score': 28.84}, {'connected_gene': 'KMT2D', 'score': 27.36}, {'connected_gene': 'LMBR1L', 'score': 26.29}, {'connected_gene': 'SMARCD1', 'score': 23.55}, {'connected_gene': 'LOC390314', 'score': 22.81}, {'connected_gene': 'TUBA1A', 'score': 12.9}, {'connected_gene': 'KANSL2', 'score': 12.6}, {'connected_gene': 'KCNH3', 'score': 11.95}, {'connected_gene': 'MCRS1', 'score': 10.47}, {'connected_gene': 'BCDIN3D', 'score': 9.7}, {'connected_gene': 'DNAJC22', 'score': 7.9}, {'connected_gene': 'PRPF40B', 'score': 5.46}, {'connected_gene': 'LOC100335030', 'score': 0.34}, {'connected_gene': 'GC12P049321', 'score': 0.25}]
chr12 GH12I049823 49823366 49829670 2.5 [{'connected_gene': 'NCKAP5L', 'score': 553.27}, {'connected_gene': 'SMARCD1', 'score': 17.51}, {'connected_gene': 'LMBR1L', 'score': 13.74}, {'connected_gene': 'FAIM2', 'score': 12.73}, {'connected_gene': 'ASIC1', 'score': 12.69}, {'connected_gene': 'DDX23', 'score': 12.48}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.55}, {'connected_gene': 'CERS5', 'score': 10.88}, {'connected_gene': 'KMT2D', 'score': 10.28}, {'connected_gene': 'TUBA1A', 'score': 9.95}, {'connected_gene': 'ENSG00000272368', 'score': 9.88}, {'connected_gene': 'RPL35AP28', 'score': 4.55}, {'connected_gene': 'NMTRQ-TTG6-1', 'score': 0.44}]
chr12 GH12I049212 49212773 49215800 1.15 [{'connected_gene': 'LMBR1L', 'score': 16.77}, {'connected_gene': 'TUBA1A', 'score': 12.06}, {'connected_gene': 'TUBA1C', 'score': 12.03}, {'connected_gene': 'C1QL4', 'score': 10.82}, {'connected_gene': 'DHH', 'score': 10.62}, {'connected_gene': 'LOC105369760', 'score': 9.6}, {'connected_gene': 'OR5BK1P', 'score': 4.46}, {'connected_gene': 'ENSG00000274017', 'score': 0.37}, {'connected_gene': 'ENSG00000258101', 'score': 0.23}]
chr12 GH12I050070 50070401 50071129 1.1 [{'connected_gene': 'CERS5', 'score': 26.69}, {'connected_gene': 'ENSG00000272368', 'score': 20.12}, {'connected_gene': 'ASIC1', 'score': 13.01}, {'connected_gene': 'FAIM2', 'score': 12.65}, {'connected_gene': 'FAM186A', 'score': 11.56}, {'connected_gene': 'SLC11A2', 'score': 11.41}, {'connected_gene': 'FAM186B', 'score': 10.88}, {'connected_gene': 'BCDIN3D-AS1', 'score': 10.85}, {'connected_gene': 'ENSG00000257298', 'score': 10.33}, {'connected_gene': 'PRPF40B', 'score': 10.29}, {'connected_gene': 'PRPH', 'score': 10.04}, {'connected_gene': 'TUBA1A', 'score': 9.94}, {'connected_gene': 'DHH', 'score': 9.9}, {'connected_gene': 'LOC100422296', 'score': 9.83}, {'connected_gene': 'LMBR1L', 'score': 9.79}, {'connected_gene': 'GC12P050064', 'score': 0.44}, {'connected_gene': 'SMARCD1', 'score': 0.39}]
chr12 GH12I049160 49160076 49161800 0.85 [{'connected_gene': 'LOC105369760', 'score': 16.53}, {'connected_gene': 'LMBR1L', 'score': 16.05}, {'connected_gene': 'TUBA1A', 'score': 12.89}, {'connected_gene': 'TUBA1C', 'score': 12.89}, {'connected_gene': 'DHH', 'score': 11.81}, {'connected_gene': 'GC12M049133', 'score': 0.31}, {'connected_gene': 'ENSG00000200309', 'score': 0.31}]
chr12 GH12I049127 49127176 49127689 0.9 [{'connected_gene': 'LOC105369760', 'score': 550.77}, {'connected_gene': 'RHEBL1', 'score': 11.99}, {'connected_gene': 'TUBA1A', 'score': 11.16}, {'connected_gene': 'TUBA1C', 'score': 11.16}, {'connected_gene': 'KMT2D', 'score': 10.74}, {'connected_gene': 'LMBR1L', 'score': 0.37}]
chr12 GH12I049055 49055133 49061872 2.09 [{'connected_gene': 'GC12P049057', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 74.87}, {'connected_gene': 'LOC390314', 'score': 67.83}, {'connected_gene': 'LMBR1L', 'score': 60.67}, {'connected_gene': 'CCNT1', 'score': 53.48}, {'connected_gene': 'KANSL2', 'score': 51.65}, {'connected_gene': 'KMT2D', 'score': 47.76}, {'connected_gene': 'LOC100422296', 'score': 43.41}, {'connected_gene': 'SENP1', 'score': 42.32}, {'connected_gene': 'PRPF40B', 'score': 41.05}, {'connected_gene': 'OR5BK1P', 'score': 31.21}, {'connected_gene': 'BCDIN3D', 'score': 27.59}, {'connected_gene': 'ADCY6', 'score': 21.11}, {'connected_gene': 'DDN', 'score': 19.98}, {'connected_gene': 'ENSG00000257964', 'score': 19.91}, {'connected_gene': 'CACNB3', 'score': 19.75}, {'connected_gene': 'LOC101927267', 'score': 19.69}, {'connected_gene': 'SPATS2', 'score': 18.26}, {'connected_gene': 'LOC102725258', 'score': 18.24}, {'connected_gene': 'CCDC184', 'score': 15.18}, {'connected_gene': 'ASIC1', 'score': 12.64}, {'connected_gene': 'FAIM2', 'score': 12.57}, {'connected_gene': 'BCDIN3D-AS1', 'score': 10.81}, {'connected_gene': 'TUBA1A', 'score': 10.03}, {'connected_gene': 'CCDC65', 'score': 8.14}, {'connected_gene': 'DHH', 'score': 3.93}, {'connected_gene': 'GC12M049057', 'score': 0.77}]
chr12 GH12I049222 49222198 49224268 1.12 [{'connected_gene': 'ENSG00000257298', 'score': 12.45}, {'connected_gene': 'ENSG00000257964', 'score': 12.24}, {'connected_gene': 'TUBA1C', 'score': 12.2}, {'connected_gene': 'TUBA1A', 'score': 12.2}, {'connected_gene': 'LOC100422296', 'score': 10.53}, {'connected_gene': 'PRPF40B', 'score': 10.37}, {'connected_gene': 'LOC105369760', 'score': 5.83}, {'connected_gene': 'ENSG00000274017', 'score': 0.31}, {'connected_gene': 'ENSG00000258101', 'score': 0.26}]
chr12 GH12I049876 49876649 49884105 0.79 [{'connected_gene': 'ENSG00000257298', 'score': 19.11}, {'connected_gene': 'ENSG00000257964', 'score': 13.9}, {'connected_gene': 'LIMA1', 'score': 13.78}, {'connected_gene': 'LOC100422296', 'score': 13.26}, {'connected_gene': 'PRPF40B', 'score': 11.57}, {'connected_gene': 'PRPH', 'score': 10.83}, {'connected_gene': 'BCDIN3D', 'score': 10.58}, {'connected_gene': 'LMBR1L', 'score': 10.47}, {'connected_gene': 'AQP2', 'score': 10.45}, {'connected_gene': 'TUBA1A', 'score': 9.7}, {'connected_gene': 'FAIM2', 'score': 6.36}, {'connected_gene': 'LINC02395', 'score': 4.3}, {'connected_gene': 'ENSG00000272368', 'score': 4.14}, {'connected_gene': 'C1QL4', 'score': 4.14}, {'connected_gene': 'RPL35AP28', 'score': 0.37}, {'connected_gene': 'GC12M049898', 'score': 0.34}]
chr12 GH12I049195 49195601 49196001 0.58 [{'connected_gene': 'ENSG00000274017', 'score': 550.77}, {'connected_gene': 'LOC390314', 'score': 12.97}, {'connected_gene': 'ENSG00000257298', 'score': 12.05}, {'connected_gene': 'PRPF40B', 'score': 11.58}, {'connected_gene': 'SMARCD1', 'score': 10.91}, {'connected_gene': 'RHEBL1', 'score': 10.51}, {'connected_gene': 'DDX23', 'score': 10.18}, {'connected_gene': 'ENSG00000257964', 'score': 10.15}, {'connected_gene': 'LOC100422296', 'score': 9.96}, {'connected_gene': 'KANSL2', 'score': 9.79}, {'connected_gene': 'TUBA1C', 'score': 0.44}, {'connected_gene': 'TUBA1A', 'score': 0.44}]

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