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
ENST00000328252 [[118916082, 118916866], [118949432, 118950495], [118969734, 118969880], [118973917, 118974211], [118982215, 118982408], [118989709, 118989831], [118997417, 118997916], [119028135, 119028264], [119033603, 119033695], [119065035, 119065229], [119093522, 119093636], [119094611, 119094747], [119097139, 119097353], [119106821, 119106990], [119109304, 119109488], [119114984, 119115195], [119115900, 119116072], [119124870, 119125018], [119129923, 119130033], [119139854, 119139926], [119144673, 119144772], [119158787, 119164601]] [[118916451, 118916866], [118949432, 118950495], [118969734, 118969880], [118973917, 118974211], [118982215, 118982408], [118989709, 118989831], [118997417, 118997916], [119028135, 119028264], [119033603, 119033695], [119065035, 119065229], [119093522, 119093636], [119094611, 119094747], [119097139, 119097353], [119106821, 119106990], [119109304, 119109488], [119114984, 119115195], [119115900, 119116072], [119124870, 119125018], [119129923, 119130033], [119139854, 119139926], [119144673, 119144772], [119158787, 119158895]]
ENST00000534838 [[118950451, 118950495], [119028135, 119028264], [119033603, 119033695], [119065035, 119065229], [119093522, 119093636], [119094611, 119094747], [119097139, 119097353], [119106821, 119106990], [119109304, 119109488], [119114984, 119115195], [119115900, 119116072], [119124870, 119125018], [119129923, 119130033], [119139854, 119139926], [119144673, 119144772], [119158787, 119159041]] [[119033628, 119033695], [119065035, 119065229], [119093522, 119093636], [119094611, 119094747], [119097139, 119097353], [119106821, 119106990], [119109304, 119109488], [119114984, 119115195], [119115900, 119116072], [119124870, 119125018], [119129923, 119130033], [119139854, 119139926], [119144673, 119144772], [119158787, 119158895]]
ENST00000483254 [[119135477, 119135988], [119139854, 119139926], [119144673, 119144772], [119158787, 119158895]] None
ENST00000460463 [[119094710, 119094747], [119095022, 119095125], [119097139, 119097353]] None
NM_002581 [[118916070, 118916866], [118949432, 118950495], [118969734, 118969880], [118973917, 118974211], [118982215, 118982408], [118989709, 118989831], [118997417, 118997916], [119028135, 119028264], [119033603, 119033695], [119065035, 119065229], [119093522, 119093636], [119094611, 119094747], [119097139, 119097353], [119106821, 119106990], [119109304, 119109488], [119114984, 119115195], [119115900, 119116072], [119124870, 119125018], [119129923, 119130033], [119139854, 119139926], [119144673, 119144772], [119158787, 119164600]] [[118916451, 118916866], [118949432, 118950495], [118969734, 118969880], [118973917, 118974211], [118982215, 118982408], [118989709, 118989831], [118997417, 118997916], [119028135, 119028264], [119033603, 119033695], [119065035, 119065229], [119093522, 119093636], [119094611, 119094747], [119097139, 119097353], [119106821, 119106990], [119109304, 119109488], [119114984, 119115195], [119115900, 119116072], [119124870, 119125018], [119129923, 119130033], [119139854, 119139926], [119144673, 119144772], [119158787, 119158895]]
Promoter
Chrom Start End Description
chr9 118915768 118915835 CAGE_peak_3_at_PAPPA_5end
chr9 118915838 118915845 CAGE_peak_28_at_PAPPA_5end
chr9 118915849 118915859 CAGE_peak_16_at_PAPPA_5end
chr9 118915863 118915909 CAGE_peak_4_at_PAPPA_5end
chr9 118915915 118915930 CAGE_peak_12_at_PAPPA_5end
chr9 118915956 118915981 CAGE_peak_8_at_PAPPA_5end
chr9 118916063 118916077 CAGE_peak_2_at_PAPPA_5end
chr9 118916082 118916108 CAGE_peak_1_at_PAPPA_5end
chr9 118916164 118916178 CAGE_peak_5_at_PAPPA_5end
chr9 118916228 118916241 CAGE_peak_18_at_PAPPA_5end
chr9 118916249 118916260 CAGE_peak_11_at_PAPPA_5end
chr9 118916382 118916386 CAGE_peak_19_at_PAPPA_5end
chr9 118916434 118916450 CAGE_peak_6_at_PAPPA_5end
chr9 118916487 118916492 CAGE_peak_15_at_PAPPA_5end
chr9 118916764 118916789 CAGE_peak_13_at_PAPPA_5end
chr9 118950325 118950341 CAGE_peak_22_at_PAPPA_5end
chr9 119094607 119094618 CAGE_peak_50_at_PAPPA_5end
chr9 119158876 119158880 CAGE_peak_68_at_PAPPA_5end
chr9 119160366 119160371 CAGE_peak_91_at_PAPPA_5end
chr9 119160870 119160892 CAGE_peak_31_at_PAPPA_5end
chr9 119160901 119160912 CAGE_peak_27_at_PAPPA_5end
chr9 119161224 119161240 CAGE_peak_17_at_PAPPA_5end
chr9 119162143 119162169 CAGE_peak_14_at_PAPPA_5end
chr9 119162208 119162219 CAGE_peak_48_at_PAPPA_5end
chr9 119162565 119162573 CAGE_peak_74_at_PAPPA_5end
chr9 119163454 119163470 CAGE_peak_44_at_PAPPA_5end
chr9 119163512 119163519 CAGE_peak_67_at_PAPPA_5end
chr9 119163544 119163553 CAGE_peak_53_at_PAPPA_5end
chr9 119163586 119163595 CAGE_peak_60_at_PAPPA_5end
chr9 119163686 119163705 CAGE_peak_10_at_PAPPA_5end
chr9 119163743 119163748 CAGE_peak_73_at_PAPPA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I116273 116273760 116280499 0.97 [{'connected_gene': 'RPL10P3', 'score': 11.44}, {'connected_gene': 'LOC105376241', 'score': 10.94}, {'connected_gene': 'ENSG00000230894', 'score': 9.53}, {'connected_gene': 'PAPPA-AS2', 'score': 0.39}, {'connected_gene': 'GC09P116191', 'score': 0.17}, {'connected_gene': 'PAPPA', 'score': 0.13}]
chr9 GH09I116099 116099382 116102107 0.57 [{'connected_gene': 'PAPPA', 'score': 11.12}, {'connected_gene': 'PAPPA-AS1', 'score': 9.56}, {'connected_gene': 'GC09P116155', 'score': 0.23}, {'connected_gene': 'LOC105376236', 'score': 0.14}]
chr9 GH09I116691 116691867 116694210 0.84 [{'connected_gene': 'PAPPA', 'score': 4.48}, {'connected_gene': 'TRIM32', 'score': 0.44}, {'connected_gene': 'GC09P116705', 'score': 0.39}, {'connected_gene': 'ASTN2', 'score': 0.03}]
chr9 GH09I116180 116180279 116183571 0.2 [{'connected_gene': 'PAPPA', 'score': 10.82}, {'connected_gene': 'LOC105376241', 'score': 9.74}, {'connected_gene': 'GC09P116173', 'score': 0.44}, {'connected_gene': 'GC09P116191', 'score': 0.39}]
chr9 GH09I116115 116115362 116116679 0.4 [{'connected_gene': 'PAPPA', 'score': 11.37}, {'connected_gene': 'GC09P116155', 'score': 0.28}, {'connected_gene': 'LOC105376236', 'score': 0.13}]
chr9 GH09I116096 116096106 116096460 0.36 [{'connected_gene': 'PAPPA', 'score': 11.11}, {'connected_gene': 'GC09P116155', 'score': 0.22}, {'connected_gene': 'LOC105376236', 'score': 0.14}]
chr9 GH09I116151 116151190 116158775 2.59 [{'connected_gene': 'PAPPA', 'score': 557.66}, {'connected_gene': 'GC09P116156', 'score': 550.77}, {'connected_gene': 'GC09P116155', 'score': 550.77}, {'connected_gene': 'GC09P116173', 'score': 0.37}]
chr9 GH09I116464 116464596 116467125 1.17 [{'connected_gene': 'PAPPA-AS1', 'score': 11.25}, {'connected_gene': 'PAPPA', 'score': 10.47}, {'connected_gene': 'LOC105376241', 'score': 10.43}, {'connected_gene': 'RPL10P3', 'score': 9.7}, {'connected_gene': 'ASTN2-AS1', 'score': 0.28}, {'connected_gene': 'ASTN2', 'score': 0.02}]
chr9 GH09I116476 116476453 116477996 0.66 [{'connected_gene': 'PAPPA-AS1', 'score': 10.79}, {'connected_gene': 'PAPPA', 'score': 10.3}, {'connected_gene': 'ENSG00000230894', 'score': 10.08}, {'connected_gene': 'LOC105376241', 'score': 9.78}, {'connected_gene': 'ASTN2-AS1', 'score': 0.31}, {'connected_gene': 'ASTN2', 'score': 0.02}]
chr9 GH09I116263 116263266 116263431 0.22 [{'connected_gene': 'PAPPA-AS1', 'score': 10.45}, {'connected_gene': 'PAPPA', 'score': 2.26}, {'connected_gene': 'PAPPA-AS2', 'score': 0.31}, {'connected_gene': 'GC09P116191', 'score': 0.19}]
chr9 GH09I116470 116470255 116472584 1.27 [{'connected_gene': 'PAPPA-AS1', 'score': 11.24}, {'connected_gene': 'LOC105376241', 'score': 10.42}, {'connected_gene': 'PAPPA', 'score': 10.37}, {'connected_gene': 'ASTN2-AS1', 'score': 0.29}, {'connected_gene': 'ASTN2', 'score': 0.02}]
chr9 GH09I116376 116376851 116378308 0.54 [{'connected_gene': 'PAPPA-AS1', 'score': 11.12}, {'connected_gene': 'ENSG00000230894', 'score': 9.21}, {'connected_gene': 'LOC105376241', 'score': 0.22}, {'connected_gene': 'PAPPA', 'score': 0.07}]
chr9 GH09I116391 116391482 116391631 0.46 [{'connected_gene': 'PAPPA-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376241', 'score': 0.19}, {'connected_gene': 'PAPPA', 'score': 0.07}]
chr9 GH09I116300 116300496 116304138 0.38 [{'connected_gene': 'PAPPA-AS1', 'score': 9.82}, {'connected_gene': 'ENSG00000230894', 'score': 9.52}, {'connected_gene': 'GC09P116304', 'score': 0.44}, {'connected_gene': 'LOC105376241', 'score': 0.37}, {'connected_gene': 'PAPPA', 'score': 0.11}]
chr9 GH09I116264 116264260 116265082 0.2 [{'connected_gene': 'PAPPA-AS1', 'score': 10.45}, {'connected_gene': 'PAPPA-AS2', 'score': 0.34}, {'connected_gene': 'GC09P116191', 'score': 0.19}, {'connected_gene': 'PAPPA', 'score': 0.14}]
chr9 GH09I116662 116662126 116664188 0.2 [{'connected_gene': 'ASTN2', 'score': 18.18}, {'connected_gene': 'TRIM32', 'score': 12.17}, {'connected_gene': 'ENSG00000230894', 'score': 10.55}, {'connected_gene': 'PAPPA', 'score': 10.54}, {'connected_gene': 'LOC105376240', 'score': 0.2}]
chr9 GH09I116643 116643840 116644457 0.2 [{'connected_gene': 'ASTN2', 'score': 16.55}, {'connected_gene': 'TRIM32', 'score': 11.63}, {'connected_gene': 'PAPPA', 'score': 10.63}, {'connected_gene': 'ENSG00000230894', 'score': 10.18}, {'connected_gene': 'ASTN2-AS1', 'score': 7.56}, {'connected_gene': 'LOC105376240', 'score': 0.25}]
chr9 GH09I116686 116686215 116690811 2.42 [{'connected_gene': 'ASTN2', 'score': 556.33}, {'connected_gene': 'TRIM32', 'score': 550.77}, {'connected_gene': 'ASTN2-AS1', 'score': 14.11}, {'connected_gene': 'PAPPA', 'score': 4.54}, {'connected_gene': 'GC09P116705', 'score': 0.37}]
chr9 GH09I116661 116661001 116661401 0.79 [{'connected_gene': 'TRIM32', 'score': 12.14}, {'connected_gene': 'ASTN2', 'score': 11.85}, {'connected_gene': 'ENSG00000230894', 'score': 10.55}, {'connected_gene': 'PAPPA', 'score': 10.54}, {'connected_gene': 'LOC105376240', 'score': 0.21}]
chr9 GH09I116318 116318582 116319484 0.77 [{'connected_gene': 'LOC105376241', 'score': 550.77}, {'connected_gene': 'GC09P116304', 'score': 0.34}, {'connected_gene': 'PAPPA', 'score': 0.1}]
chr9 GH09I116312 116312322 116312471 0.2 [{'connected_gene': 'LOC105376241', 'score': 0.44}, {'connected_gene': 'GC09P116304', 'score': 0.37}, {'connected_gene': 'PAPPA', 'score': 0.1}]
chr9 GH09I116355 116355010 116356183 0.87 [{'connected_gene': 'LOC105376241', 'score': 10.79}, {'connected_gene': 'PAPPA-AS1', 'score': 10.68}, {'connected_gene': 'PAPPA', 'score': 0.08}]
chr9 GH09I116345 116345579 116346482 0.57 [{'connected_gene': 'LOC105376241', 'score': 11.0}, {'connected_gene': 'PAPPA-AS1', 'score': 10.42}, {'connected_gene': 'PAPPA', 'score': 0.08}]
chr9 GH09I116271 116271520 116272351 0.79 [{'connected_gene': 'LOC105376241', 'score': 10.32}, {'connected_gene': 'ENSG00000230894', 'score': 9.76}, {'connected_gene': 'PAPPA-AS2', 'score': 0.37}, {'connected_gene': 'GC09P116191', 'score': 0.18}, {'connected_gene': 'PAPPA', 'score': 0.13}]
chr9 GH09I116250 116250673 116251751 0.51 [{'connected_gene': 'LOC105376241', 'score': 10.57}, {'connected_gene': 'ENSG00000230894', 'score': 8.93}, {'connected_gene': 'PAPPA-AS2', 'score': 0.28}, {'connected_gene': 'GC09P116191', 'score': 0.22}, {'connected_gene': 'PAPPA', 'score': 0.15}]
chr9 GH09I116248 116248162 116248311 0.43 [{'connected_gene': 'LOC105376241', 'score': 10.56}, {'connected_gene': 'ENSG00000230894', 'score': 8.93}, {'connected_gene': 'PAPPA-AS2', 'score': 0.26}, {'connected_gene': 'GC09P116191', 'score': 0.22}, {'connected_gene': 'PAPPA', 'score': 0.16}]
chr9 GH09I116286 116286322 116286551 0.72 [{'connected_gene': 'LOC105376241', 'score': 10.37}, {'connected_gene': 'PAPPA-AS2', 'score': 0.77}, {'connected_gene': 'GC09P116191', 'score': 0.16}, {'connected_gene': 'PAPPA', 'score': 0.12}]
chr9 GH09I116321 116320402 116320411 0.56 [{'connected_gene': 'LOC105376241', 'score': 550.77}, {'connected_gene': 'PAPPA-AS2', 'score': 10.64}, {'connected_gene': 'PAPPA-AS1', 'score': 9.87}, {'connected_gene': 'PAPPA', 'score': 9.68}]
chr9 GH09I116320 116320542 116320551 0.67 [{'connected_gene': 'LOC105376241', 'score': 550.77}, {'connected_gene': 'PAPPA-AS2', 'score': 10.64}, {'connected_gene': 'PAPPA-AS1', 'score': 9.87}, {'connected_gene': 'PAPPA', 'score': 9.68}]
chr9 GH09I116322 116322407 116322534 0.24 [{'connected_gene': 'PAPPA-AS2', 'score': 10.64}, {'connected_gene': 'PAPPA-AS1', 'score': 9.88}, {'connected_gene': 'PAPPA', 'score': 9.68}, {'connected_gene': 'LOC105376241', 'score': 0.77}]
chr9 GH09I116328 116328162 116328371 0.2 [{'connected_gene': 'PAPPA-AS2', 'score': 10.14}, {'connected_gene': 'PAPPA-AS1', 'score': 10.08}, {'connected_gene': 'LOC105376241', 'score': 0.44}, {'connected_gene': 'PAPPA', 'score': 0.09}]
chr9 GH09I116287 116287791 116289511 0.76 [{'connected_gene': 'PAPPA-AS2', 'score': 550.77}, {'connected_gene': 'LOC105376241', 'score': 11.15}, {'connected_gene': 'GC09P116191', 'score': 0.15}, {'connected_gene': 'PAPPA', 'score': 0.12}]
chr9 GH09I116256 116256007 116256207 0.24 [{'connected_gene': 'PAPPA-AS2', 'score': 10.64}, {'connected_gene': 'LOC105376241', 'score': 10.54}, {'connected_gene': 'PAPPA', 'score': 3.02}, {'connected_gene': 'GC09P116191', 'score': 0.21}]
chr9 GH09I116236 116236802 116239474 1 [{'connected_gene': 'PAPPA-AS2', 'score': 11.01}, {'connected_gene': 'LOC105376241', 'score': 10.6}, {'connected_gene': 'PAPPA-AS1', 'score': 9.82}, {'connected_gene': 'GC09P116191', 'score': 0.25}, {'connected_gene': 'PAPPA', 'score': 0.18}]
chr9 GH09I116232 116232055 116235439 0.91 [{'connected_gene': 'PAPPA-AS2', 'score': 11.0}, {'connected_gene': 'LOC105376241', 'score': 10.59}, {'connected_gene': 'PAPPA-AS1', 'score': 9.83}, {'connected_gene': 'GC09P116191', 'score': 0.26}, {'connected_gene': 'PAPPA', 'score': 0.18}]
chr9 GH09I116193 116193782 116193951 0.63 [{'connected_gene': 'GC09P116191', 'score': 550.77}, {'connected_gene': 'PAPPA', 'score': 0.26}, {'connected_gene': 'PAPPA-AS2', 'score': 0.16}]
chr9 GH09I116195 116195456 116198594 0.54 [{'connected_gene': 'GC09P116191', 'score': 0.44}, {'connected_gene': 'PAPPA', 'score': 0.26}, {'connected_gene': 'PAPPA-AS2', 'score': 0.16}]
chr9 GH09I116208 116208479 116208775 0.82 [{'connected_gene': 'GC09P116191', 'score': 0.37}, {'connected_gene': 'PAPPA', 'score': 0.23}, {'connected_gene': 'PAPPA-AS2', 'score': 0.18}]
chr9 GH09I116209 116208802 116208951 0.83 [{'connected_gene': 'GC09P116191', 'score': 0.37}, {'connected_gene': 'PAPPA', 'score': 0.22}, {'connected_gene': 'PAPPA-AS2', 'score': 0.18}]
chr9 GH09I116161 116161762 116163146 0.91 [{'connected_gene': 'ENSG00000230894', 'score': 9.85}, {'connected_gene': 'PAPPA', 'score': 0.44}, {'connected_gene': 'GC09P116156', 'score': 0.44}, {'connected_gene': 'GC09P116173', 'score': 0.39}]
chr9 GH09I116167 116167466 116168691 0.43 [{'connected_gene': 'ENSG00000230894', 'score': 9.35}, {'connected_gene': 'GC09P116173', 'score': 0.44}, {'connected_gene': 'PAPPA', 'score': 0.39}, {'connected_gene': 'GC09P116156', 'score': 0.39}]
chr9 GH09I116189 116189505 116192087 1.13 [{'connected_gene': 'GC09P116191', 'score': 550.77}, {'connected_gene': 'PAPPA', 'score': 1.63}, {'connected_gene': 'GC09P116173', 'score': 0.37}]
chr9 GH09I116364 116364772 116365951 0.89 [{'connected_gene': 'ENSG00000230894', 'score': 9.66}, {'connected_gene': 'PAPPA-AS1', 'score': 0.28}, {'connected_gene': 'LOC105376241', 'score': 0.25}, {'connected_gene': 'PAPPA', 'score': 0.08}]
chr9 GH09I116292 116292762 116293025 0.45 [{'connected_gene': 'GC09P116304', 'score': 550.77}, {'connected_gene': 'LOC105376241', 'score': 11.17}, {'connected_gene': 'PAPPA', 'score': 3.07}, {'connected_gene': 'PAPPA-AS2', 'score': 0.77}]
chr9 GH09I116164 116164086 116166629 0.59 [{'connected_gene': 'ENSG00000230894', 'score': 9.89}, {'connected_gene': 'LOC105376241', 'score': 9.24}, {'connected_gene': 'GC09P116173', 'score': 0.44}, {'connected_gene': 'PAPPA', 'score': 0.39}, {'connected_gene': 'GC09P116156', 'score': 0.39}]
chr9 GH09I116336 116336759 116337426 0.74 [{'connected_gene': 'ENSG00000230894', 'score': 9.42}, {'connected_gene': 'LOC105376241', 'score': 0.37}, {'connected_gene': 'PAPPA-AS1', 'score': 0.21}, {'connected_gene': 'PAPPA', 'score': 0.09}]

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