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
ENST00000336578 [[70042416, 70044046], [70045104, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056891]] [[70043933, 70044046], [70045104, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056727]]
ENST00000358769 [[70042416, 70044046], [70045104, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066660], [70092540, 70092684]] [[70043933, 70044046], [70045104, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066601]]
ENST00000468798 [[70042820, 70043047], [70048239, 70048418], [70048687, 70048720]] [[70042988, 70043047], [70048239, 70048418], [70048687, 70048720]]
ENST00000309049 [[70042820, 70044046], [70045104, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066663], [70092540, 70092663]] [[70043933, 70044046], [70045104, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066601]]
ENST00000432941 [[70044837, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066660], [70092540, 70092684]] [[70045015, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066601]]
ENST00000495025 [[70044837, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066663], [70092540, 70092806]] [[70045015, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066601]]
ENST00000277795 [[70046783, 70048776], [70051766, 70051796], [70051885, 70051995], [70056642, 70056742], [70066517, 70066636]] None
ENST00000478192 [[70055703, 70056121], [70056642, 70056742], [70066517, 70066586]] None
NM_022129 [[70042416, 70044046], [70045104, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066660], [70092540, 70092684]] [[70043933, 70044046], [70045104, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066601]]
NM_001033083 [[70044837, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066660], [70092540, 70092684]] [[70045015, 70045167], [70048239, 70048418], [70048687, 70048776], [70051766, 70051796], [70051885, 70051995], [70056022, 70056121], [70056642, 70056742], [70066517, 70066601]]
Promoter
Chrom Start End Description
chr10 70066579 70066613 CAGE_peak_4_at_PBLD_5end
chr10 70066616 70066659 CAGE_peak_2_at_PBLD_5end
chr10 70066661 70066678 CAGE_peak_5_at_PBLD_5end
chr10 70066683 70066690 CAGE_peak_8_at_PBLD_5end
chr10 70092635 70092666 CAGE_peak_3_at_PBLD_5end
chr10 70092671 70092718 CAGE_peak_1_at_PBLD_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I068150 68150878 68158393 1.68 [{'connected_gene': 'MYPN', 'score': 23.23}, {'connected_gene': 'SIRT1', 'score': 16.98}, {'connected_gene': 'HERC4', 'score': 10.77}, {'connected_gene': 'ATOH7', 'score': 10.54}, {'connected_gene': 'ENSG00000233590', 'score': 10.52}, {'connected_gene': 'RN7SKP202', 'score': 6.89}, {'connected_gene': 'DNA2', 'score': 5.97}, {'connected_gene': 'PBLD', 'score': 1.68}, {'connected_gene': 'HNRNPH3', 'score': 1.46}]
chr10 GH10I069095 69094948 69097186 1.07 [{'connected_gene': 'PBLD', 'score': 5.71}, {'connected_gene': 'SUPV3L1', 'score': 5.31}, {'connected_gene': 'STOX1', 'score': 4.65}, {'connected_gene': 'HKDC1', 'score': 4.22}, {'connected_gene': 'ENSG00000274008', 'score': 0.77}, {'connected_gene': 'GC10P069089', 'score': 0.44}, {'connected_gene': 'SRGN', 'score': 0.44}, {'connected_gene': 'GC10P069090', 'score': 0.44}, {'connected_gene': 'GC10P069071', 'score': 0.34}]
chr10 GH10I068342 68342083 68342317 0.51 [{'connected_gene': 'PBLD', 'score': 0.44}, {'connected_gene': 'HNRNPH3', 'score': 0.39}, {'connected_gene': 'RUFY2', 'score': 0.2}]
chr10 GH10I068336 68336999 68337058 1.02 [{'connected_gene': 'PBLD', 'score': 550.77}, {'connected_gene': 'HNRNPH3', 'score': 0.44}, {'connected_gene': 'RUFY2', 'score': 0.19}]
chr10 GH10I068315 68315084 68315253 0.31 [{'connected_gene': 'PBLD', 'score': 0.37}, {'connected_gene': 'HNRNPH3', 'score': 0.37}, {'connected_gene': 'KRT19P4', 'score': 0.23}]
chr10 GH10I068314 68314424 68314573 0.56 [{'connected_gene': 'PBLD', 'score': 0.37}, {'connected_gene': 'HNRNPH3', 'score': 0.37}, {'connected_gene': 'KRT19P4', 'score': 0.23}]
chr10 GH10I068405 68405428 68408216 2.03 [{'connected_gene': 'RUFY2', 'score': 550.77}, {'connected_gene': 'DDX50', 'score': 21.39}, {'connected_gene': 'SIRT1', 'score': 19.84}, {'connected_gene': 'DNA2', 'score': 18.69}, {'connected_gene': 'HNRNPH3', 'score': 13.16}, {'connected_gene': 'TET1', 'score': 10.64}, {'connected_gene': 'PBLD', 'score': 0.19}]
chr10 GH10I069085 69085650 69094386 2.57 [{'connected_gene': 'SRGN', 'score': 562.23}, {'connected_gene': 'GC10P069089', 'score': 550.77}, {'connected_gene': 'GC10P069090', 'score': 550.77}, {'connected_gene': 'DDX50', 'score': 20.9}, {'connected_gene': 'DDX21', 'score': 14.65}, {'connected_gene': 'SUPV3L1', 'score': 6.36}, {'connected_gene': 'HKDC1', 'score': 6.35}, {'connected_gene': 'PBLD', 'score': 5.81}, {'connected_gene': 'LOC101928994', 'score': 5.3}, {'connected_gene': 'TACR2', 'score': 4.4}, {'connected_gene': 'VPS26A', 'score': 1.84}, {'connected_gene': 'GC10M069086', 'score': 0.77}, {'connected_gene': 'GC10M069087', 'score': 0.77}, {'connected_gene': 'ENSG00000274008', 'score': 0.44}, {'connected_gene': 'GC10P069071', 'score': 0.37}]
chr10 GH10I068327 68327728 68336812 2.63 [{'connected_gene': 'HNRNPH3', 'score': 595.67}, {'connected_gene': 'PBLD', 'score': 552.82}, {'connected_gene': 'DDX50', 'score': 46.3}, {'connected_gene': 'HERC4', 'score': 41.76}, {'connected_gene': 'CCAR1', 'score': 35.46}, {'connected_gene': 'SIRT1', 'score': 22.14}, {'connected_gene': 'DNA2', 'score': 19.78}, {'connected_gene': 'RPL26P27', 'score': 19.14}, {'connected_gene': 'TET1', 'score': 11.05}, {'connected_gene': 'RPS3AP38', 'score': 10.56}]
chr10 GH10I067898 67898381 67898388 0.26 [{'connected_gene': 'HNRNPH3', 'score': 11.16}, {'connected_gene': 'PBLD', 'score': 9.86}, {'connected_gene': 'SIRT1', 'score': 3.61}, {'connected_gene': 'GC10M067961', 'score': 0.21}]
chr10 GH10I068348 68348544 68348753 0.69 [{'connected_gene': 'HERC4', 'score': 9.93}, {'connected_gene': 'CCAR1', 'score': 9.92}, {'connected_gene': 'MIR1254-1', 'score': 9.91}, {'connected_gene': 'SNORD98', 'score': 9.58}, {'connected_gene': 'PBLD', 'score': 0.37}, {'connected_gene': 'RUFY2', 'score': 0.22}]
chr10 GH10I068096 68096608 68098877 1.21 [{'connected_gene': 'HERC4', 'score': 11.13}, {'connected_gene': 'ATOH7', 'score': 10.76}, {'connected_gene': 'ENSG00000233590', 'score': 10.76}, {'connected_gene': 'HNRNPH3', 'score': 9.77}, {'connected_gene': 'PBLD', 'score': 9.76}, {'connected_gene': 'MYPN', 'score': 6.29}, {'connected_gene': 'SIRT1', 'score': 5.78}, {'connected_gene': 'PIR62804', 'score': 0.37}]
chr10 GH10I068077 68077293 68078575 0.2 [{'connected_gene': 'SIRT1', 'score': 16.5}, {'connected_gene': 'MYPN', 'score': 10.74}, {'connected_gene': 'PBLD', 'score': 10.34}, {'connected_gene': 'HNRNPH3', 'score': 10.34}, {'connected_gene': 'PIR62804', 'score': 0.77}, {'connected_gene': 'HERC4', 'score': 0.77}]
chr10 GH10I068082 68082466 68084959 0.77 [{'connected_gene': 'SIRT1', 'score': 13.25}, {'connected_gene': 'MYPN', 'score': 10.76}, {'connected_gene': 'ATOH7', 'score': 10.71}, {'connected_gene': 'ENSG00000233590', 'score': 10.7}, {'connected_gene': 'PBLD', 'score': 10.34}, {'connected_gene': 'HNRNPH3', 'score': 10.34}, {'connected_gene': 'PIR62804', 'score': 0.77}]
chr10 GH10I068091 68091814 68096422 1.48 [{'connected_gene': 'SIRT1', 'score': 24.61}, {'connected_gene': 'HNRNPH3', 'score': 21.51}, {'connected_gene': 'CCAR1', 'score': 18.16}, {'connected_gene': 'HERC4', 'score': 16.31}, {'connected_gene': 'DDX50', 'score': 15.81}, {'connected_gene': 'ATOH7', 'score': 10.77}, {'connected_gene': 'ENSG00000233590', 'score': 10.76}, {'connected_gene': 'PBLD', 'score': 9.87}, {'connected_gene': 'MYPN', 'score': 6.36}, {'connected_gene': 'PIR62804', 'score': 0.39}]
chr10 GH10I068032 68032067 68033423 0.56 [{'connected_gene': 'SIRT1', 'score': 20.18}, {'connected_gene': 'HERC4', 'score': 11.78}, {'connected_gene': 'HNRNPH3', 'score': 9.68}, {'connected_gene': 'PBLD', 'score': 9.67}, {'connected_gene': 'POU5F1P5', 'score': 0.34}]
chr10 GH10I068188 68188103 68188428 0.24 [{'connected_gene': 'ATOH7', 'score': 11.27}, {'connected_gene': 'ENSG00000233590', 'score': 11.24}, {'connected_gene': 'PBLD', 'score': 9.78}, {'connected_gene': 'HNRNPH3', 'score': 9.78}, {'connected_gene': 'DNA2', 'score': 9.16}, {'connected_gene': 'MYPN', 'score': 3.38}, {'connected_gene': 'RUFY2', 'score': 1.42}, {'connected_gene': 'GC10M068220', 'score': 0.29}, {'connected_gene': 'RN7SKP202', 'score': 0.29}]
chr10 GH10I068208 68208259 68209075 0.78 [{'connected_gene': 'ATOH7', 'score': 12.07}, {'connected_gene': 'ENSG00000233590', 'score': 12.02}, {'connected_gene': 'PBLD', 'score': 10.83}, {'connected_gene': 'HNRNPH3', 'score': 10.83}, {'connected_gene': 'GC10M068220', 'score': 0.39}, {'connected_gene': 'RN7SKP202', 'score': 0.23}, {'connected_gene': 'MYPN', 'score': 0.15}]
chr10 GH10I068230 68230705 68232160 1.92 [{'connected_gene': 'ATOH7', 'score': 550.77}, {'connected_gene': 'PBLD', 'score': 9.91}, {'connected_gene': 'GC10M068220', 'score': 0.39}]
chr10 GH10I068347 68347385 68348167 0.46 [{'connected_gene': 'DNA2', 'score': 18.56}, {'connected_gene': 'HERC4', 'score': 9.93}, {'connected_gene': 'CCAR1', 'score': 9.92}, {'connected_gene': 'MIR1254-1', 'score': 9.91}, {'connected_gene': 'SNORD98', 'score': 9.58}, {'connected_gene': 'PBLD', 'score': 0.39}, {'connected_gene': 'RUFY2', 'score': 0.22}]
chr10 GH10I068318 68318113 68319768 0.68 [{'connected_gene': 'DNA2', 'score': 14.39}, {'connected_gene': 'ATOH7', 'score': 4.77}, {'connected_gene': 'PBLD', 'score': 0.39}, {'connected_gene': 'HNRNPH3', 'score': 0.39}, {'connected_gene': 'KRT19P4', 'score': 0.22}]
chr10 GH10I068261 68261079 68261873 0.62 [{'connected_gene': 'KRT19P4', 'score': 550.77}, {'connected_gene': 'PBLD', 'score': 21.0}, {'connected_gene': 'ATOH7', 'score': 12.23}, {'connected_gene': 'ENSG00000233590', 'score': 11.39}, {'connected_gene': 'HNRNPH3', 'score': 10.75}]
chr10 GH10I068283 68283531 68285393 0.31 [{'connected_gene': 'ENSG00000233590', 'score': 14.64}, {'connected_gene': 'PBLD', 'score': 11.88}, {'connected_gene': 'KRT19P4', 'score': 0.34}, {'connected_gene': 'HNRNPH3', 'score': 0.25}]
chr10 GH10I069202 69202111 69206752 0.89 [{'connected_gene': 'ENSG00000231748', 'score': 10.69}, {'connected_gene': 'HK1', 'score': 10.68}, {'connected_gene': 'LOC101928994', 'score': 6.05}, {'connected_gene': 'SUPV3L1', 'score': 5.81}, {'connected_gene': 'PBLD', 'score': 4.74}, {'connected_gene': 'HKDC1', 'score': 0.37}]
chr10 GH10I068316 68315286 68315466 0.2 [{'connected_gene': 'ENSG00000233590', 'score': 4.84}, {'connected_gene': 'SIRT1', 'score': 4.42}, {'connected_gene': 'PBLD', 'score': 0.37}, {'connected_gene': 'HNRNPH3', 'score': 0.37}, {'connected_gene': 'KRT19P4', 'score': 0.22}]
chr10 GH10I068303 68303924 68307474 0.74 [{'connected_gene': 'ENSG00000233590', 'score': 23.33}, {'connected_gene': 'SIRT1', 'score': 14.39}, {'connected_gene': 'ATOH7', 'score': 11.96}, {'connected_gene': 'PBLD', 'score': 11.6}, {'connected_gene': 'HNRNPH3', 'score': 11.6}, {'connected_gene': 'CCAR1', 'score': 5.78}, {'connected_gene': 'DNA2', 'score': 4.96}, {'connected_gene': 'RUFY2', 'score': 4.54}, {'connected_gene': 'KRT19P4', 'score': 0.25}]
chr10 GH10I068299 68299909 68301600 0.63 [{'connected_gene': 'ENSG00000233590', 'score': 22.95}, {'connected_gene': 'ATOH7', 'score': 11.97}, {'connected_gene': 'PBLD', 'score': 11.45}, {'connected_gene': 'HNRNPH3', 'score': 11.45}, {'connected_gene': 'DNA2', 'score': 8.51}, {'connected_gene': 'KRT19P4', 'score': 0.26}]
chr10 GH10I068271 68271211 68271697 0.56 [{'connected_gene': 'ENSG00000233590', 'score': 11.49}, {'connected_gene': 'ATOH7', 'score': 11.45}, {'connected_gene': 'PBLD', 'score': 10.43}, {'connected_gene': 'KRT19P4', 'score': 0.39}, {'connected_gene': 'HNRNPH3', 'score': 0.22}]
chr10 GH10I068202 68202601 68203399 0.58 [{'connected_gene': 'ENSG00000233590', 'score': 21.18}, {'connected_gene': 'ATOH7', 'score': 12.04}, {'connected_gene': 'HNRNPH3', 'score': 10.83}, {'connected_gene': 'PBLD', 'score': 10.82}, {'connected_gene': 'MYPN', 'score': 8.55}, {'connected_gene': 'GC10M068220', 'score': 0.37}, {'connected_gene': 'RN7SKP202', 'score': 0.26}]
chr10 GH10I068302 68302284 68302473 0.72 [{'connected_gene': 'ENSG00000233590', 'score': 11.98}, {'connected_gene': 'ATOH7', 'score': 11.96}, {'connected_gene': 'HNRNPH3', 'score': 11.47}, {'connected_gene': 'PBLD', 'score': 11.45}, {'connected_gene': 'KRT19P4', 'score': 0.26}]

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