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
ENST00000311028 [[102698770, 102701634], [102705018, 102705124], [102731479, 102731876], [102899368, 102899455], [102928036, 102928086], [103032464, 103032589], [103136464, 103136562]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
ENST00000395923 [[102698770, 102701634], [102705018, 102705124], [102731479, 102731876], [102928036, 102928086], [103032464, 103032517], [103136797, 103137135]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
ENST00000220931 [[102698954, 102701634], [102705018, 102705124], [102731479, 102731876], [102803089, 102803189]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
ENST00000521599 [[102700122, 102701634], [102705018, 102705124], [102731479, 102731876], [102928036, 102928086], [103032464, 103032517], [103041237, 103041324], [103136464, 103136548]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
ENST00000522951 [[102700691, 102701387], [102705018, 102705124], [102731479, 102731876], [102803089, 102803205]] [[102701286, 102701387], [102705018, 102705124], [102731479, 102731857]]
ENST00000522448 [[102700870, 102700948], [102731479, 102731876], [102803089, 102803197]] [[102700870, 102700948], [102731479, 102731857]]
ENST00000520690 [[102705093, 102705124], [102731479, 102731876], [102928036, 102928086], [102987487, 102987557]] [[102705093, 102705124], [102731479, 102731857]]
ENST00000518727 [[102731492, 102731876], [102928036, 102928086], [102962485, 102962588], [102998683, 102998720]] [[102731492, 102731857]]
ENST00000520425 [[102731497, 102731876], [102928036, 102928086], [102998683, 102998834]] [[102731497, 102731857]]
ENST00000518166 [[102731507, 102731876], [102928036, 102928086], [103032464, 103032517], [103136464, 103136562]] [[102731507, 102731857]]
ENST00000522252 [[102731520, 102731876], [102762825, 102762915], [102803089, 102803205]] [[102731520, 102731857]]
ENST00000517822 [[102731522, 102731876], [102864799, 102864898], [102928036, 102928086], [103032464, 103032517], [103136464, 103136491]] [[102731522, 102731857]]
ENST00000524209 [[102731541, 102731876], [102762825, 102762915], [102928036, 102928086], [103032464, 103032517], [103136464, 103136489]] [[102731541, 102731857]]
ENST00000517531 [[102731542, 102731876], [102928036, 102928086], [103032464, 103032517], [103135986, 103136178]] [[102731542, 102731857]]
ENST00000521964 [[102731596, 102731876], [102899368, 102899455], [102928036, 102928086], [103032464, 103032517], [103136464, 103136559]] [[102731596, 102731857]]
ENST00000519098 [[102731600, 102731876], [102762825, 102762915], [102792151, 102792207], [102803089, 102803205]] [[102731600, 102731857]]
ENST00000523923 [[102731613, 102731876], [102792151, 102792207], [102864799, 102864898], [102928036, 102928086], [103032464, 103032517], [103136464, 103136492]] [[102731613, 102731857]]
ENST00000520346 [[102731624, 102731876], [102733440, 102733579], [102803089, 102803186]] [[102731624, 102731857]]
ENST00000518661 [[102731635, 102731876], [102899368, 102899455], [102928036, 102928086], [103032464, 103032634]] [[102731635, 102731857]]
ENST00000522206 [[102731700, 102731876], [102928036, 102928086], [103032464, 103032517], [103082216, 103082334], [103136854, 103137042]] [[102731700, 102731857]]
ENST00000524137 [[102731810, 102731876], [102762270, 102762390], [102762825, 102762915], [102792151, 102792207], [102801006, 102801226]] [[102731810, 102731857]]
ENST00000522078 [[102731814, 102731876], [102899368, 102899455], [102928036, 102928086], [103032464, 103032517], [103136797, 103137085]] [[102731814, 102731857]]
ENST00000523645 [[102731848, 102731876], [102758058, 102758221], [102762270, 102762390], [102762825, 102762915], [102792151, 102792207], [102803089, 102803175]] [[102731848, 102731857]]
ENST00000518952 [[102758052, 102758221], [102762234, 102762390], [102762825, 102762915], [102928036, 102928086], [103032464, 103032517], [103136464, 103136489]] None
ENST00000517639 [[102927739, 102928086], [103032464, 103032517], [103136464, 103136489]] None
ENST00000519508 [[102700332, 102701634], [102705018, 102705124], [102731479, 102731876]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
ENST00000522754 [[102700705, 102701634], [102705018, 102706617]] None
ENST00000521957 [[102792149, 102792207], [102798082, 102798280], [102803089, 102803205]] None
ENST00000521371 [[102798083, 102798280], [102801006, 102801257], [102803089, 102803197]] None
ENST00000524101 [[102800861, 102801257], [102803089, 102803162]] None
NM_032041 [[102698769, 102701634], [102705018, 102705124], [102731479, 102731876], [102803089, 102803439]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
NM_001040624 [[102698769, 102701634], [102705018, 102705124], [102731479, 102731876], [102899368, 102899455], [102928036, 102928086], [103032464, 103032517], [103041237, 103041324], [103136464, 103136562]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
NM_001040628 [[102698769, 102701634], [102705018, 102705124], [102731479, 102731876], [102792151, 102792207], [102928036, 102928086], [103032464, 103032517], [103041237, 103041324], [103136464, 103136562]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
NM_001040625 [[102698769, 102701634], [102705018, 102705124], [102731479, 102731876], [102928036, 102928086], [103032464, 103032517], [103041237, 103041324], [103136464, 103136562]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
NM_001040626 [[102698769, 102701634], [102705018, 102705124], [102731479, 102731876], [102899368, 102899455], [102928036, 102928086], [103032464, 103032517], [103136464, 103136562]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
NM_001040629 [[102698769, 102701634], [102705018, 102705124], [102731479, 102731876], [102792151, 102792207], [102928036, 102928086], [103032464, 103032517], [103136464, 103136562]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
NM_001040627 [[102698769, 102701634], [102705018, 102705124], [102731479, 102731876], [102928036, 102928086], [103032464, 103032517], [103136464, 103136562]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
NM_001040630 [[102698769, 102701634], [102705018, 102705124], [102731479, 102731876], [102928036, 102928086], [103032464, 103032517], [103136797, 103137135]] [[102701536, 102701634], [102705018, 102705124], [102731479, 102731857]]
Promoter
Chrom Start End Description
chr8 102700989 102701034 CAGE_peak_7_at_NCALD_5end
chr8 102803163 102803211 CAGE_peak_1_at_NCALD_5end
chr8 102803218 102803236 CAGE_peak_3_at_NCALD_5end
chr8 102987548 102987571 CAGE_peak_4_at_NCALD_5end
chr8 102987581 102987599 CAGE_peak_5_at_NCALD_5end
chr8 103136481 103136506 CAGE_peak_2_at_NCALD_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I101901 101901764 101904266 1.07 [{'connected_gene': 'NCALD', 'score': 4.94}, {'connected_gene': 'PDCL3P2', 'score': 0.29}, {'connected_gene': 'LOC104054148', 'score': 0.18}]
chr8 GH08I101924 101924215 101925065 0.2 [{'connected_gene': 'NCALD', 'score': 10.76}, {'connected_gene': 'ENSG00000253629', 'score': 9.48}, {'connected_gene': 'PDCL3P2', 'score': 0.23}, {'connected_gene': 'LOC104054148', 'score': 0.22}]
chr8 GH08I101907 101907603 101908712 0.71 [{'connected_gene': 'NCALD', 'score': 4.46}, {'connected_gene': 'PDCL3P2', 'score': 0.28}, {'connected_gene': 'LOC104054148', 'score': 0.18}]
chr8 GH08I102105 102105339 102109704 1.52 [{'connected_gene': 'NCALD', 'score': 5.1}, {'connected_gene': 'UBR5', 'score': 1.94}, {'connected_gene': 'LOC104054148', 'score': 0.13}]
chr8 GH08I102112 102112153 102114605 1.05 [{'connected_gene': 'NCALD', 'score': 4.6}, {'connected_gene': 'UBR5', 'score': 1.71}, {'connected_gene': 'LOC104054148', 'score': 0.13}]
chr8 GH08I102010 102010682 102010940 0.76 [{'connected_gene': 'NCALD', 'score': 3.96}, {'connected_gene': 'UBR5', 'score': 1.74}, {'connected_gene': 'LOC104054148', 'score': 0.31}]
chr8 GH08I102120 102120974 102125172 2.19 [{'connected_gene': 'NCALD', 'score': 559.58}, {'connected_gene': 'UBR5', 'score': 2.35}, {'connected_gene': 'LOC104054148', 'score': 0.12}]
chr8 GH08I102094 102094659 102099153 1.3 [{'connected_gene': 'NCALD', 'score': 19.99}, {'connected_gene': 'ZNF706', 'score': 4.98}, {'connected_gene': 'UBR5', 'score': 1.95}, {'connected_gene': 'LOC104054148', 'score': 0.14}]
chr8 GH08I101971 101971013 101971162 0.43 [{'connected_gene': 'NCALD', 'score': 10.8}, {'connected_gene': 'LOC104054148', 'score': 0.39}, {'connected_gene': 'PDCL3P2', 'score': 0.15}]
chr8 GH08I101967 101967167 101968198 0.95 [{'connected_gene': 'NCALD', 'score': 10.8}, {'connected_gene': 'LOC104054148', 'score': 0.37}, {'connected_gene': 'PDCL3P2', 'score': 0.15}]
chr8 GH08I102092 102092593 102092742 0.52 [{'connected_gene': 'NCALD', 'score': 0.29}, {'connected_gene': 'LOC104054148', 'score': 0.14}]
chr8 GH08I102063 102063536 102064519 0.43 [{'connected_gene': 'NCALD', 'score': 0.21}, {'connected_gene': 'LOC104054148', 'score': 0.18}]
chr8 GH08I102116 102116572 102118586 0.2 [{'connected_gene': 'NCALD', 'score': 4.65}, {'connected_gene': 'LOC104054148', 'score': 0.12}]
chr8 GH08I102070 102070479 102071673 0.43 [{'connected_gene': 'NCALD', 'score': 10.82}, {'connected_gene': 'LOC104054148', 'score': 0.17}]
chr8 GH08I101988 101988268 101988723 0.6 [{'connected_gene': 'NCALD', 'score': 10.18}, {'connected_gene': 'LOC104054148', 'score': 0.77}]
chr8 GH08I102073 102073757 102075235 0.38 [{'connected_gene': 'NCALD', 'score': 11.34}, {'connected_gene': 'LOC104054148', 'score': 0.16}]
chr8 GH08I102100 102100312 102101887 0.38 [{'connected_gene': 'NCALD', 'score': 11.85}, {'connected_gene': 'LOC104054148', 'score': 0.13}]
chr8 GH08I102012 102011918 102013142 0.77 [{'connected_gene': 'NCALD', 'score': 5.85}, {'connected_gene': 'LOC104054148', 'score': 0.31}]
chr8 GH08I101826 101826626 101828566 0.53 [{'connected_gene': 'NCALD', 'score': 9.65}, {'connected_gene': 'ENSG00000238372', 'score': 0.37}, {'connected_gene': 'ENSG00000253629', 'score': 0.11}]
chr8 GH08I101789 101789789 101791947 1.85 [{'connected_gene': 'NCALD', 'score': 550.06}, {'connected_gene': 'ENSG00000253629', 'score': 10.82}, {'connected_gene': 'ENSG00000238372', 'score': 0.22}]
chr8 GH08I101823 101823569 101824468 0.31 [{'connected_gene': 'NCALD', 'score': 7.55}, {'connected_gene': 'ENSG00000238372', 'score': 0.34}, {'connected_gene': 'ENSG00000253629', 'score': 0.12}]
chr8 GH08I101833 101833824 101834336 0.31 [{'connected_gene': 'NCALD', 'score': 10.13}, {'connected_gene': 'ENSG00000238372', 'score': 0.39}, {'connected_gene': 'ENSG00000253629', 'score': 0.11}]
chr8 GH08I101758 101758691 101762348 0.89 [{'connected_gene': 'NCALD', 'score': 8.92}, {'connected_gene': 'ENSG00000253629', 'score': 0.19}, {'connected_gene': 'ENSG00000238372', 'score': 0.17}]
chr8 GH08I101757 101757113 101757202 0.77 [{'connected_gene': 'NCALD', 'score': 7.61}, {'connected_gene': 'ENSG00000253629', 'score': 0.19}, {'connected_gene': 'ENSG00000238372', 'score': 0.16}]
chr8 GH08I101871 101871077 101876719 0.58 [{'connected_gene': 'PDCL3P2', 'score': 550.77}, {'connected_gene': 'NCALD', 'score': 4.47}, {'connected_gene': 'LOC104054148', 'score': 0.14}]
chr8 GH08I101906 101906000 101906878 0.31 [{'connected_gene': 'PDCL3P2', 'score': 0.29}, {'connected_gene': 'LOC104054148', 'score': 0.18}, {'connected_gene': 'NCALD', 'score': 0.08}]
chr8 GH08I101700 101700520 101702594 0.77 [{'connected_gene': 'UBR5', 'score': 4.52}, {'connected_gene': 'ENSG00000253629', 'score': 0.37}, {'connected_gene': 'ENSG00000238372', 'score': 0.11}, {'connected_gene': 'NCALD', 'score': 0.05}]
chr8 GH08I101689 101689325 101692387 0.89 [{'connected_gene': 'UBR5', 'score': 5.08}, {'connected_gene': 'ENSG00000253629', 'score': 0.77}, {'connected_gene': 'ENSG00000238372', 'score': 0.1}, {'connected_gene': 'NCALD', 'score': 0.04}]
chr8 GH08I101891 101891601 101892000 1.05 [{'connected_gene': 'UBR5', 'score': 13.41}, {'connected_gene': 'PDCL3P2', 'score': 0.37}, {'connected_gene': 'LOC104054148', 'score': 0.16}, {'connected_gene': 'NCALD', 'score': 0.07}]
chr8 GH08I102530 102530373 102531459 0.91 [{'connected_gene': 'LOC107986898', 'score': 8.38}, {'connected_gene': 'NCALD', 'score': 2.0}, {'connected_gene': 'UBR5', 'score': 1.64}, {'connected_gene': 'RNU6-1224P', 'score': 0.77}]
chr8 GH08I102011 102010975 102011425 0.59 [{'connected_gene': 'LOC104054148', 'score': 0.31}, {'connected_gene': 'NCALD', 'score': 0.14}]
chr8 GH08I102031 102031841 102032653 0.38 [{'connected_gene': 'LOC104054148', 'score': 0.25}, {'connected_gene': 'NCALD', 'score': 0.16}]
chr8 GH08I101996 101996312 101998458 0.2 [{'connected_gene': 'LOC104054148', 'score': 0.39}, {'connected_gene': 'NCALD', 'score': 0.13}]
chr8 GH08I102032 102032873 102033022 0.52 [{'connected_gene': 'LOC104054148', 'score': 0.25}, {'connected_gene': 'NCALD', 'score': 0.16}]
chr8 GH08I102052 102052281 102053787 0.63 [{'connected_gene': 'LOC104054148', 'score': 0.2}, {'connected_gene': 'NCALD', 'score': 0.19}]
chr8 GH08I102014 102014789 102014796 0.22 [{'connected_gene': 'LOC104054148', 'score': 0.29}, {'connected_gene': 'NCALD', 'score': 0.14}]
chr8 GH08I102037 102037533 102039248 0.52 [{'connected_gene': 'LOC104054148', 'score': 0.23}, {'connected_gene': 'NCALD', 'score': 0.17}]
chr8 GH08I102022 102022595 102024756 0.58 [{'connected_gene': 'LOC104054148', 'score': 0.28}, {'connected_gene': 'NCALD', 'score': 0.15}]
chr8 GH08I101930 101930359 101932271 0.43 [{'connected_gene': 'LOC104054148', 'score': 0.23}, {'connected_gene': 'PDCL3P2', 'score': 0.22}, {'connected_gene': 'NCALD', 'score': 0.08}]
chr8 GH08I101949 101949347 101950857 0.63 [{'connected_gene': 'LOC104054148', 'score': 0.29}, {'connected_gene': 'PDCL3P2', 'score': 0.18}, {'connected_gene': 'NCALD', 'score': 0.09}]
chr8 GH08I101332 101332493 101333720 1.26 [{'connected_gene': 'LOC101927172', 'score': 10.75}, {'connected_gene': 'GRHL2', 'score': 10.75}, {'connected_gene': 'NCALD', 'score': 9.47}, {'connected_gene': 'ENSG00000271560', 'score': 0.77}, {'connected_gene': 'RNU7-67P', 'score': 0.31}]
chr8 GH08I101888 101888638 101889802 0.52 [{'connected_gene': 'AZIN1-AS1', 'score': 4.5}, {'connected_gene': 'PDCL3P2', 'score': 0.37}, {'connected_gene': 'LOC104054148', 'score': 0.15}, {'connected_gene': 'NCALD', 'score': 0.07}]
chr8 GH08I101866 101866790 101866928 0.22 [{'connected_gene': 'ENSG00000253629', 'score': 9.9}, {'connected_gene': 'NCALD', 'score': 7.46}, {'connected_gene': 'PDCL3P2', 'score': 0.44}, {'connected_gene': 'ENSG00000238372', 'score': 0.37}]
chr8 GH08I101851 101851863 101854812 0.79 [{'connected_gene': 'ENSG00000253629', 'score': 10.29}, {'connected_gene': 'NCALD', 'score': 4.91}, {'connected_gene': 'ENSG00000238372', 'score': 0.44}, {'connected_gene': 'PDCL3P2', 'score': 0.37}]
chr8 GH08I102065 102065533 102065682 0.2 [{'connected_gene': 'ENSG00000253629', 'score': 9.46}, {'connected_gene': 'NCALD', 'score': 0.22}, {'connected_gene': 'LOC104054148', 'score': 0.18}]
chr8 GH08I102060 102060255 102062713 0.38 [{'connected_gene': 'ENSG00000253629', 'score': 9.93}, {'connected_gene': 'NCALD', 'score': 0.21}, {'connected_gene': 'LOC104054148', 'score': 0.18}]
chr8 GH08I102064 102064626 102064697 0.43 [{'connected_gene': 'ENSG00000253629', 'score': 9.46}, {'connected_gene': 'NCALD', 'score': 0.21}, {'connected_gene': 'LOC104054148', 'score': 0.18}]
chr8 GH08I101829 101829982 101829996 0.22 [{'connected_gene': 'ENSG00000238372', 'score': 0.37}, {'connected_gene': 'ENSG00000253629', 'score': 0.11}, {'connected_gene': 'NCALD', 'score': 0.06}]
chr8 GH08I101786 101786773 101788029 0.31 [{'connected_gene': 'ENSG00000253629', 'score': 10.82}, {'connected_gene': 'NCALD', 'score': 8.78}, {'connected_gene': 'ENSG00000238372', 'score': 0.22}]
chr8 GH08I102127 102127878 102130487 1.08 [{'connected_gene': 'GC08P102128', 'score': 550.77}, {'connected_gene': 'NCALD', 'score': 7.87}, {'connected_gene': 'ENSG00000254492', 'score': 0.31}]
chr8 GH08I101831 101831709 101832600 0.63 [{'connected_gene': 'ENSG00000238372', 'score': 0.37}, {'connected_gene': 'ENSG00000253629', 'score': 0.11}, {'connected_gene': 'NCALD', 'score': 0.06}]
chr8 GH08I101702 101702913 101703082 0.69 [{'connected_gene': 'ENSG00000253629', 'score': 0.37}, {'connected_gene': 'ENSG00000238372', 'score': 0.11}, {'connected_gene': 'NCALD', 'score': 0.05}]
chr8 GH08I101719 101719553 101719702 0.2 [{'connected_gene': 'ENSG00000253629', 'score': 10.35}, {'connected_gene': 'ENSG00000238372', 'score': 0.13}, {'connected_gene': 'NCALD', 'score': 0.05}]
chr8 GH08I101716 101716589 101717773 0.38 [{'connected_gene': 'ENSG00000253629', 'score': 11.02}, {'connected_gene': 'ENSG00000238372', 'score': 0.12}, {'connected_gene': 'NCALD', 'score': 0.05}]
chr8 GH08I101721 101721709 101723144 0.73 [{'connected_gene': 'ENSG00000253629', 'score': 10.5}, {'connected_gene': 'ENSG00000238372', 'score': 0.13}, {'connected_gene': 'NCALD', 'score': 0.05}]
chr8 GH08I101832 101832773 101832922 0.52 [{'connected_gene': 'ENSG00000238372', 'score': 0.39}, {'connected_gene': 'ENSG00000253629', 'score': 0.11}, {'connected_gene': 'NCALD', 'score': 0.06}]
chr8 GH08I101773 101773316 101774625 0.49 [{'connected_gene': 'ENSG00000238372', 'score': 0.19}, {'connected_gene': 'ENSG00000253629', 'score': 0.17}, {'connected_gene': 'NCALD', 'score': 0.05}]
chr8 GH08I101857 101857273 101857422 0.4 [{'connected_gene': 'ENSG00000253629', 'score': 9.8}, {'connected_gene': 'ENSG00000238372', 'score': 0.44}, {'connected_gene': 'PDCL3P2', 'score': 0.37}, {'connected_gene': 'NCALD', 'score': 0.06}]
chr8 GH08I101849 101849351 101850706 0.52 [{'connected_gene': 'ENSG00000238372', 'score': 0.77}, {'connected_gene': 'PDCL3P2', 'score': 0.34}, {'connected_gene': 'NCALD', 'score': 0.06}]
chr8 GH08I101883 101883925 101885798 0.38 [{'connected_gene': 'ENSG00000238372', 'score': 11.96}, {'connected_gene': 'PDCL3P2', 'score': 0.39}, {'connected_gene': 'LOC104054148', 'score': 0.15}, {'connected_gene': 'NCALD', 'score': 0.07}]
chr8 GH08I101980 101980001 101981208 0.92 [{'connected_gene': 'ENSG00000253629', 'score': 9.44}, {'connected_gene': 'LOC104054148', 'score': 0.77}, {'connected_gene': 'PDCL3P2', 'score': 0.14}, {'connected_gene': 'NCALD', 'score': 0.11}]
chr8 GH08I101979 101979593 101979742 0.2 [{'connected_gene': 'ENSG00000253629', 'score': 9.44}, {'connected_gene': 'LOC104054148', 'score': 0.77}, {'connected_gene': 'PDCL3P2', 'score': 0.14}, {'connected_gene': 'NCALD', 'score': 0.11}]

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