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
ENST00000441802 [[187508936, 187510374], [187516842, 187516980], [187517693, 187518325], [187518835, 187518946], [187519125, 187519279], [187521051, 187521514], [187522422, 187522580], [187524056, 187524188], [187524329, 187525131], [187525530, 187525728], [187527223, 187527367], [187530336, 187530474], [187530954, 187531169], [187532539, 187532929], [187534262, 187534496], [187535344, 187535498], [187538158, 187538355], [187538861, 187542929], [187549307, 187549518], [187549641, 187549917], [187554837, 187554977], [187557178, 187557389], [187557738, 187558068], [187560875, 187560937], [187584452, 187584767], [187627716, 187630999], [187644817, 187645009]] [[187509745, 187510374], [187516842, 187516980], [187517693, 187518325], [187518835, 187518946], [187519125, 187519279], [187521051, 187521514], [187522422, 187522580], [187524056, 187524188], [187524329, 187525131], [187525530, 187525728], [187527223, 187527367], [187530336, 187530474], [187530954, 187531169], [187532539, 187532929], [187534262, 187534496], [187535344, 187535498], [187538158, 187538355], [187538861, 187542929], [187549307, 187549518], [187549641, 187549917], [187554837, 187554977], [187557178, 187557389], [187557738, 187558068], [187560875, 187560937], [187584452, 187584767], [187627716, 187630981]]
ENST00000500085 [[187508980, 187510374], [187516842, 187516980], [187517693, 187518385]] None
ENST00000512772 [[187509545, 187510374], [187511521, 187511557], [187516842, 187516980], [187517693, 187517995]] [[187509745, 187510374], [187511521, 187511557], [187516842, 187516980], [187517693, 187517995]]
ENST00000507105 [[187509960, 187510374], [187516842, 187516980], [187518187, 187518325], [187518835, 187518946], [187519125, 187519178]] [[187509960, 187510374], [187516842, 187516980], [187518187, 187518325], [187518835, 187518946], [187519125, 187519178]]
ENST00000509537 [[187510143, 187510374], [187511658, 187511849], [187516842, 187516899]] [[187511699, 187511849], [187516842, 187516851]]
ENST00000509927 [[187510225, 187510374], [187511521, 187511557], [187513846, 187513906], [187516842, 187516954]] [[187510225, 187510374], [187511521, 187511557], [187513846, 187513906], [187516842, 187516954]]
ENST00000507662 [[187518264, 187518425], [187518835, 187518946], [187519125, 187519281]] None
ENST00000512347 [[187518883, 187518946], [187519125, 187519279], [187519680, 187519975]] None
ENST00000503253 [[187521484, 187521514], [187522422, 187522854]] None
ENST00000508035 [[187530403, 187530474], [187530954, 187531224]] None
ENST00000509647 [[187629516, 187630999], [187647507, 187647876]] [[187629516, 187630981]]
NM_005245 [[187508936, 187510374], [187516842, 187516980], [187517693, 187518325], [187518835, 187518946], [187519125, 187519279], [187521051, 187521514], [187522422, 187522580], [187524056, 187524188], [187524329, 187525131], [187525530, 187525728], [187527223, 187527367], [187530336, 187530474], [187530954, 187531169], [187532539, 187532929], [187534262, 187534496], [187535344, 187535498], [187538158, 187538355], [187538861, 187542929], [187549307, 187549518], [187549641, 187549917], [187554837, 187554977], [187557178, 187557389], [187557738, 187558068], [187560875, 187560937], [187584452, 187584767], [187627716, 187630999], [187644817, 187644987]] [[187509745, 187510374], [187516842, 187516980], [187517693, 187518325], [187518835, 187518946], [187519125, 187519279], [187521051, 187521514], [187522422, 187522580], [187524056, 187524188], [187524329, 187525131], [187525530, 187525728], [187527223, 187527367], [187530336, 187530474], [187530954, 187531169], [187532539, 187532929], [187534262, 187534496], [187535344, 187535498], [187538158, 187538355], [187538861, 187542929], [187549307, 187549518], [187549641, 187549917], [187554837, 187554977], [187557178, 187557389], [187557738, 187558068], [187560875, 187560937], [187584452, 187584767], [187627716, 187630981]]
Promoter
Chrom Start End Description
chr4 187517928 187517949 CAGE_peak_11_at_FAT1_5end
chr4 187518318 187518321 CAGE_peak_53_at_FAT1_5end
chr4 187518341 187518353 CAGE_peak_23_at_FAT1_5end
chr4 187518373 187518386 CAGE_peak_17_at_FAT1_5end
chr4 187518389 187518415 CAGE_peak_6_at_FAT1_5end
chr4 187518454 187518463 CAGE_peak_42_at_FAT1_5end
chr4 187519913 187519927 CAGE_peak_49_at_FAT1_5end
chr4 187519949 187519954 CAGE_peak_57_at_FAT1_5end
chr4 187520011 187520021 CAGE_peak_55_at_FAT1_5end
chr4 187520022 187520033 CAGE_peak_46_at_FAT1_5end
chr4 187644930 187645017 CAGE_peak_2_at_FAT1_5end
chr4 187645329 187645341 CAGE_peak_8_at_FAT1_5end
chr4 187647683 187647690 CAGE_peak_16_at_FAT1_5end
chr4 187647702 187647734 CAGE_peak_4_at_FAT1_5end
chr4 187647737 187647763 CAGE_peak_3_at_FAT1_5end
chr4 187647773 187647864 CAGE_peak_1_at_FAT1_5end
chr4 187648035 187648066 CAGE_peak_5_at_FAT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I186720 186720194 186721135 0.59 [{'connected_gene': 'KLKB1', 'score': 4.61}, {'connected_gene': 'FAT1', 'score': 0.44}, {'connected_gene': 'GC04M186621', 'score': 0.15}]
chr4 GH04I186764 186764336 186767075 1.32 [{'connected_gene': 'FAM149A', 'score': 4.76}, {'connected_gene': 'FAT1', 'score': 0.28}, {'connected_gene': 'LOC102723906', 'score': 0.19}]
chr4 GH04I187171 187171591 187173006 0.43 [{'connected_gene': 'FAT1', 'score': 6.92}, {'connected_gene': 'LINC02374', 'score': 0.31}, {'connected_gene': 'ENSG00000250971', 'score': 0.14}]
chr4 GH04I186759 186759466 186759612 0.75 [{'connected_gene': 'FAT1', 'score': 0.29}, {'connected_gene': 'LOC102723906', 'score': 0.18}]
chr4 GH04I186761 186761562 186761790 0.38 [{'connected_gene': 'FAT1', 'score': 0.29}, {'connected_gene': 'LOC102723906', 'score': 0.18}]
chr4 GH04I186734 186734713 186737020 1 [{'connected_gene': 'FAT1', 'score': 8.42}, {'connected_gene': 'LOC102723906', 'score': 0.15}]
chr4 GH04I186758 186758027 186758389 0.24 [{'connected_gene': 'FAT1', 'score': 0.29}, {'connected_gene': 'LOC102723906', 'score': 0.18}]
chr4 GH04I186760 186760044 186761496 0.43 [{'connected_gene': 'FAT1', 'score': 0.29}, {'connected_gene': 'LOC102723906', 'score': 0.18}]
chr4 GH04I186770 186770101 186771971 0.43 [{'connected_gene': 'FAT1', 'score': 0.26}, {'connected_gene': 'LOC102723906', 'score': 0.2}]
chr4 GH04I186754 186754511 186756606 0.92 [{'connected_gene': 'FAT1', 'score': 0.31}, {'connected_gene': 'LOC102723906', 'score': 0.17}]
chr4 GH04I186738 186738982 186741013 0.87 [{'connected_gene': 'FAT1', 'score': 6.32}, {'connected_gene': 'LOC102723906', 'score': 0.15}]
chr4 GH04I186779 186779945 186782711 0.92 [{'connected_gene': 'FAT1', 'score': 0.23}, {'connected_gene': 'LOC102723906', 'score': 0.22}]
chr4 GH04I186692 186692883 186694420 1.33 [{'connected_gene': 'FAT1', 'score': 0.29}, {'connected_gene': 'GC04M186621', 'score': 0.19}]
chr4 GH04I186706 186706517 186709919 0.2 [{'connected_gene': 'FAT1', 'score': 8.99}, {'connected_gene': 'GC04M186621', 'score': 0.17}]
chr4 GH04I186682 186682658 186689935 1.5 [{'connected_gene': 'FAT1', 'score': 5.19}, {'connected_gene': 'GC04M186621', 'score': 0.21}]
chr4 GH04I186712 186712089 186716423 0.46 [{'connected_gene': 'FAT1', 'score': 9.27}, {'connected_gene': 'GC04M186621', 'score': 0.16}]
chr4 GH04I186710 186710287 186711610 0.6 [{'connected_gene': 'FAT1', 'score': 0.37}, {'connected_gene': 'GC04M186621', 'score': 0.17}]
chr4 GH04I186722 186722180 186730558 2.48 [{'connected_gene': 'FAT1', 'score': 562.05}, {'connected_gene': 'GC04M186621', 'score': 0.15}]
chr4 GH04I186716 186716959 186718490 0.2 [{'connected_gene': 'FAT1', 'score': 7.45}, {'connected_gene': 'GC04M186621', 'score': 0.16}]
chr4 GH04I186697 186697115 186703296 1.5 [{'connected_gene': 'FAT1', 'score': 9.74}, {'connected_gene': 'GC04M186621', 'score': 0.18}]
chr4 GH04I186705 186705403 186706441 0.2 [{'connected_gene': 'FAT1', 'score': 8.75}, {'connected_gene': 'GC04M186621', 'score': 0.18}]
chr4 GH04I186695 186695914 186696890 0.2 [{'connected_gene': 'FAT1', 'score': 7.55}, {'connected_gene': 'GC04M186621', 'score': 0.19}]
chr4 GH04I186694 186694947 186695717 0.38 [{'connected_gene': 'FAT1', 'score': 0.29}, {'connected_gene': 'GC04M186621', 'score': 0.19}]
chr4 GH04I186703 186703601 186703800 0.4 [{'connected_gene': 'FAT1', 'score': 0.34}, {'connected_gene': 'GC04M186621', 'score': 0.18}]
chr4 GH04I186833 186832319 186832461 0.4 [{'connected_gene': 'LOC102723906', 'score': 0.44}, {'connected_gene': 'FAT1', 'score': 0.14}]
chr4 GH04I186832 186832947 186833096 0.88 [{'connected_gene': 'LOC102723906', 'score': 0.44}, {'connected_gene': 'FAT1', 'score': 0.14}]
chr4 GH04I186789 186789827 186789976 0.2 [{'connected_gene': 'LOC102723906', 'score': 0.23}, {'connected_gene': 'FAT1', 'score': 0.21}]
chr4 GH04I186798 186798600 186799673 0.72 [{'connected_gene': 'LOC102723906', 'score': 0.26}, {'connected_gene': 'FAT1', 'score': 0.19}]
chr4 GH04I186838 186838900 186841353 1.24 [{'connected_gene': 'LOC102723906', 'score': 550.77}, {'connected_gene': 'ENSG00000250829', 'score': 15.34}, {'connected_gene': 'ENSG00000250971', 'score': 5.44}, {'connected_gene': 'FAT1', 'score': 0.14}]
chr4 GH04I186078 186078587 186079927 0.49 [{'connected_gene': 'ENSG00000253013', 'score': 10.69}, {'connected_gene': 'CYP4V2', 'score': 9.7}, {'connected_gene': 'FAT1', 'score': 5.46}, {'connected_gene': 'GC04P186084', 'score': 0.77}, {'connected_gene': 'GC04P186083', 'score': 0.77}, {'connected_gene': 'GC04P186085', 'score': 0.77}, {'connected_gene': 'GC04P186087', 'score': 0.77}, {'connected_gene': 'GC04P186086', 'score': 0.77}, {'connected_gene': 'TLR3', 'score': 0.39}]
chr4 GH04I186633 186633519 186634076 0.4 [{'connected_gene': 'GC04M186621', 'score': 0.39}, {'connected_gene': 'FAT1', 'score': 0.16}]
chr4 GH04I186621 186621485 186626052 0.72 [{'connected_gene': 'GC04M186621', 'score': 550.77}, {'connected_gene': 'FAT1', 'score': 0.15}]
chr4 GH04I186657 186657485 186659721 0.43 [{'connected_gene': 'GC04M186621', 'score': 0.28}, {'connected_gene': 'FAT1', 'score': 0.2}]
chr4 GH04I186668 186668585 186671416 1.11 [{'connected_gene': 'GC04M186621', 'score': 0.25}, {'connected_gene': 'FAT1', 'score': 0.22}]
chr4 GH04I186659 186659853 186660726 0.2 [{'connected_gene': 'GC04M186621', 'score': 0.28}, {'connected_gene': 'FAT1', 'score': 0.2}]
chr4 GH04I186600 186600898 186602243 0.2 [{'connected_gene': 'GC04M186588', 'score': 0.44}, {'connected_gene': 'GC04M186621', 'score': 0.34}, {'connected_gene': 'FAT1', 'score': 0.13}]
chr4 GH04I186589 186589755 186600797 0.38 [{'connected_gene': 'GC04M186588', 'score': 550.77}, {'connected_gene': 'GC04M186621', 'score': 0.31}, {'connected_gene': 'FAT1', 'score': 0.12}]
chr4 GH04I186651 186651231 186652476 0.96 [{'connected_gene': 'GC04M186621', 'score': 0.31}, {'connected_gene': 'FAT1', 'score': 0.18}]
chr4 GH04I186634 186634827 186634976 0.4 [{'connected_gene': 'GC04M186621', 'score': 0.39}, {'connected_gene': 'FAT1', 'score': 0.16}]
chr4 GH04I186627 186627269 186630750 0.38 [{'connected_gene': 'GC04M186621', 'score': 0.44}, {'connected_gene': 'FAT1', 'score': 0.15}]
chr4 GH04I186666 186666190 186667892 0.76 [{'connected_gene': 'GC04M186621', 'score': 0.26}, {'connected_gene': 'FAT1', 'score': 0.22}]
chr4 GH04I186642 186642627 186645333 1.11 [{'connected_gene': 'GC04M186621', 'score': 0.34}, {'connected_gene': 'FAT1', 'score': 0.18}]
chr4 GH04I186602 186602283 186605050 0.38 [{'connected_gene': 'GC04M186588', 'score': 0.44}, {'connected_gene': 'GC04M186621', 'score': 0.37}, {'connected_gene': 'FAT1', 'score': 0.13}]
chr4 GH04I186588 186588848 186589710 0.2 [{'connected_gene': 'GC04M186588', 'score': 0.77}, {'connected_gene': 'GC04P186578', 'score': 0.39}, {'connected_gene': 'FAT1', 'score': 0.12}]
chr4 GH04I186674 186674331 186677936 0.99 [{'connected_gene': 'GC04M186621', 'score': 0.23}, {'connected_gene': 'FAT1', 'score': 0.23}]
chr4 GH04I186606 186606314 186607349 0.63 [{'connected_gene': 'GC04M186588', 'score': 0.39}, {'connected_gene': 'GC04M186621', 'score': 0.37}, {'connected_gene': 'FAT1', 'score': 0.13}]
chr4 GH04I186671 186671995 186673232 0.2 [{'connected_gene': 'GC04M186621', 'score': 0.25}, {'connected_gene': 'FAT1', 'score': 0.23}]
chr4 GH04I186632 186632424 186633155 0.2 [{'connected_gene': 'GC04M186621', 'score': 0.44}, {'connected_gene': 'FAT1', 'score': 0.16}]
chr4 GH04I186820 186820334 186821208 0.95 [{'connected_gene': 'ENSG00000250829', 'score': 5.25}, {'connected_gene': 'LOC102723906', 'score': 0.37}, {'connected_gene': 'FAT1', 'score': 0.16}]
chr4 GH04I186826 186826854 186827611 0.63 [{'connected_gene': 'ENSG00000250829', 'score': 11.51}, {'connected_gene': 'LOC102723906', 'score': 0.39}, {'connected_gene': 'FAT1', 'score': 0.15}]
chr4 GH04I186829 186829020 186830969 1.33 [{'connected_gene': 'ENSG00000250971', 'score': 6.9}, {'connected_gene': 'ENSG00000250829', 'score': 6.83}, {'connected_gene': 'LOC102723906', 'score': 0.39}, {'connected_gene': 'FAT1', 'score': 0.15}]
chr4 GH04I186807 186807888 186809546 1.1 [{'connected_gene': 'ENSG00000272218', 'score': 5.82}, {'connected_gene': 'LOC102723906', 'score': 0.29}, {'connected_gene': 'FAT1', 'score': 0.18}]
chr4 GH04I186810 186810211 186811137 0.49 [{'connected_gene': 'ENSG00000250971', 'score': 5.43}, {'connected_gene': 'ENSG00000250829', 'score': 4.88}, {'connected_gene': 'LOC102723906', 'score': 0.31}, {'connected_gene': 'FAT1', 'score': 0.18}]
chr4 GH04I186804 186804451 186807550 0.99 [{'connected_gene': 'ENSG00000250829', 'score': 8.53}, {'connected_gene': 'ENSG00000250971', 'score': 5.48}, {'connected_gene': 'LOC102723906', 'score': 0.29}, {'connected_gene': 'FAT1', 'score': 0.18}]
chr4 GH04I186811 186811322 186812129 0.31 [{'connected_gene': 'ENSG00000250829', 'score': 9.18}, {'connected_gene': 'LOC102723906', 'score': 0.31}, {'connected_gene': 'FAT1', 'score': 0.18}]
chr4 GH04I186823 186823507 186825836 0.98 [{'connected_gene': 'ENSG00000250971', 'score': 5.54}, {'connected_gene': 'ENSG00000250829', 'score': 5.53}, {'connected_gene': 'LOC102723906', 'score': 0.37}, {'connected_gene': 'FAT1', 'score': 0.15}]
chr4 GH04I186812 186812494 186813876 0.56 [{'connected_gene': 'ENSG00000250829', 'score': 8.11}, {'connected_gene': 'LOC102723906', 'score': 0.31}, {'connected_gene': 'FAT1', 'score': 0.17}]

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