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
ENST00000224784 [[90694830, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708710], [90712487, 90712530]] [[90694979, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708687]]
ENST00000458208 [[90694832, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708710], [90750695, 90751147]] [[90694979, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708687]]
ENST00000480297 [[90700757, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708710], [90712487, 90712504]] None
ENST00000458159 [[90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708710], [90750778, 90751045]] [[90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708687]]
ENST00000415557 [[90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708710], [90750695, 90751096]] [[90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708687]]
ENST00000488967 [[90706576, 90707143], [90708558, 90708710], [90712487, 90712530]] None
ENST00000482085 [[90707998, 90708710], [90712487, 90712530]] None
NM_001613 [[90694830, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708710], [90712487, 90712580]] [[90694979, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708687]]
NM_001141945 [[90694830, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708710], [90750695, 90751154]] [[90694979, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708687]]
NM_001320855 [[90694830, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708710], [90750778, 90751154]] [[90694979, 90695123], [90697817, 90697999], [90699263, 90699455], [90700985, 90701147], [90701541, 90701626], [90703553, 90703664], [90707014, 90707143], [90708558, 90708687]]
Promoter
Chrom Start End Description
chr10 90708582 90708630 CAGE_peak_3_at_ACTA2_5end
chr10 90708633 90708655 CAGE_peak_10_at_ACTA2_5end
chr10 90712520 90712536 CAGE_peak_1_at_ACTA2_5end
chr10 90750752 90750755 CAGE_peak_14_at_ACTA2_5end
chr10 90750896 90750925 CAGE_peak_5_at_ACTA2_5end
chr10 90750930 90750941 CAGE_peak_13_at_ACTA2_5end
chr10 90750948 90750976 CAGE_peak_6_at_ACTA2_5end
chr10 90750982 90750999 CAGE_peak_4_at_ACTA2_5end
chr10 90751002 90751013 CAGE_peak_7_at_ACTA2_5end
chr10 90751021 90751032 CAGE_peak_11_at_ACTA2_5end
chr10 90751038 90751131 CAGE_peak_2_at_ACTA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I088979 88979001 88980000 1.11 [{'connected_gene': 'KIF20B', 'score': 9.75}, {'connected_gene': 'FAS', 'score': 5.4}, {'connected_gene': 'ACTA2', 'score': 0.39}, {'connected_gene': 'GC10M088853', 'score': 0.34}]
chr10 GH10I089029 89029713 89030281 0.88 [{'connected_gene': 'CH25H', 'score': 12.37}, {'connected_gene': 'ACTA2-AS1', 'score': 11.51}, {'connected_gene': 'ACTA2', 'score': 11.18}, {'connected_gene': 'FAS', 'score': 11.11}, {'connected_gene': 'GC10P089027', 'score': 0.77}, {'connected_gene': 'MIR4679-1', 'score': 0.29}]
chr10 GH10I088949 88949908 88954174 2.23 [{'connected_gene': 'ACTA2', 'score': 556.99}, {'connected_gene': 'STAMBPL1', 'score': 10.99}, {'connected_gene': 'CH25H', 'score': 5.98}, {'connected_gene': 'LIPF', 'score': 2.44}, {'connected_gene': 'FAS', 'score': 0.37}, {'connected_gene': 'ACTA2-AS1', 'score': 0.37}, {'connected_gene': 'GC10M088853', 'score': 0.25}]
chr10 GH10I088986 88986744 88986973 0.88 [{'connected_gene': 'ACTA2', 'score': 23.0}, {'connected_gene': 'GC10M088853', 'score': 0.39}, {'connected_gene': 'FAS', 'score': 0.37}]
chr10 GH10I088987 88987401 88987800 0.82 [{'connected_gene': 'ACTA2', 'score': 22.1}, {'connected_gene': 'FAS', 'score': 20.5}, {'connected_gene': 'GC10M088853', 'score': 0.39}]
chr10 GH10I088989 88987044 88987233 0.62 [{'connected_gene': 'ACTA2', 'score': 0.77}, {'connected_gene': 'GC10M088853', 'score': 0.39}, {'connected_gene': 'FAS', 'score': 0.37}]
chr10 GH10I088981 88981601 88981800 0.4 [{'connected_gene': 'ACTA2', 'score': 0.44}, {'connected_gene': 'FAS', 'score': 0.39}, {'connected_gene': 'GC10M088853', 'score': 0.34}]
chr10 GH10I088982 88982818 88983122 0.2 [{'connected_gene': 'ACTA2', 'score': 0.44}, {'connected_gene': 'FAS', 'score': 0.39}, {'connected_gene': 'GC10M088853', 'score': 0.37}]
chr10 GH10I088983 88983780 88984117 0.2 [{'connected_gene': 'ACTA2', 'score': 0.44}, {'connected_gene': 'FAS', 'score': 0.39}, {'connected_gene': 'GC10M088853', 'score': 0.37}]
chr10 GH10I088985 88985228 88985996 0.2 [{'connected_gene': 'ACTA2', 'score': 13.5}, {'connected_gene': 'FAS', 'score': 5.12}, {'connected_gene': 'GC10M088853', 'score': 0.37}]
chr10 GH10I088984 88984177 88985021 0.43 [{'connected_gene': 'ACTA2', 'score': 17.48}, {'connected_gene': 'FAS', 'score': 0.39}, {'connected_gene': 'GC10M088853', 'score': 0.37}]
chr10 GH10I088963 88963463 88963922 0.31 [{'connected_gene': 'STAMBPL1', 'score': 6.58}, {'connected_gene': 'FAS', 'score': 0.44}, {'connected_gene': 'ACTA2', 'score': 0.31}, {'connected_gene': 'ACTA2-AS1', 'score': 0.29}, {'connected_gene': 'GC10M088853', 'score': 0.28}]
chr10 GH10I088974 88974001 88974201 0.51 [{'connected_gene': 'STAMBPL1', 'score': 5.0}, {'connected_gene': 'FAS', 'score': 0.77}, {'connected_gene': 'ACTA2', 'score': 0.37}, {'connected_gene': 'GC10M088853', 'score': 0.31}]
chr10 GH10I088934 88934802 88936093 1.18 [{'connected_gene': 'STAMBPL1', 'score': 10.93}, {'connected_gene': 'ACTA2-AS1', 'score': 0.77}, {'connected_gene': 'FAS', 'score': 0.29}, {'connected_gene': 'ACTA2', 'score': 0.22}, {'connected_gene': 'GC10M088853', 'score': 0.2}]
chr10 GH10I088948 88948685 88949393 0.38 [{'connected_gene': 'FAS', 'score': 12.01}, {'connected_gene': 'CH25H', 'score': 9.82}, {'connected_gene': 'ACTA2-AS1', 'score': 0.37}, {'connected_gene': 'ACTA2', 'score': 0.26}, {'connected_gene': 'GC10M088853', 'score': 0.23}, {'connected_gene': 'STAMBPL1', 'score': 0.2}]
chr10 GH10I088946 88946989 88947555 0.2 [{'connected_gene': 'FAS', 'score': 12.01}, {'connected_gene': 'CH25H', 'score': 9.82}, {'connected_gene': 'ACTA2-AS1', 'score': 0.39}, {'connected_gene': 'ACTA2', 'score': 0.26}, {'connected_gene': 'GC10M088853', 'score': 0.23}, {'connected_gene': 'STAMBPL1', 'score': 0.2}]
chr10 GH10I089030 89030991 89033219 0.99 [{'connected_gene': 'FAS', 'score': 16.14}, {'connected_gene': 'CH25H', 'score': 12.37}, {'connected_gene': 'ACTA2-AS1', 'score': 11.51}, {'connected_gene': 'ACTA2', 'score': 11.16}, {'connected_gene': 'GC10P089027', 'score': 0.77}, {'connected_gene': 'MIR4679-1', 'score': 0.29}]
chr10 GH10I088936 88936912 88937663 0.31 [{'connected_gene': 'FAS', 'score': 11.68}, {'connected_gene': 'ACTA2', 'score': 11.22}, {'connected_gene': 'CH25H', 'score': 10.15}, {'connected_gene': 'ANKRD22', 'score': 5.66}, {'connected_gene': 'ACTA2-AS1', 'score': 0.77}, {'connected_gene': 'STAMBPL1', 'score': 0.22}, {'connected_gene': 'GC10M088853', 'score': 0.21}]
chr10 GH10I088939 88937817 88938793 0.31 [{'connected_gene': 'FAS', 'score': 11.92}, {'connected_gene': 'ACTA2', 'score': 11.22}, {'connected_gene': 'STAMBPL1', 'score': 11.05}, {'connected_gene': 'CH25H', 'score': 10.16}, {'connected_gene': 'ACTA2-AS1', 'score': 0.44}, {'connected_gene': 'GC10M088853', 'score': 0.21}]
chr10 GH10I088976 88974204 88974353 0.51 [{'connected_gene': 'FAS', 'score': 0.77}, {'connected_gene': 'ACTA2', 'score': 0.37}, {'connected_gene': 'GC10M088853', 'score': 0.31}, {'connected_gene': 'STAMBPL1', 'score': 0.16}]
chr10 GH10I088971 88970167 88970710 0.2 [{'connected_gene': 'FAS', 'score': 550.77}, {'connected_gene': 'ACTA2', 'score': 0.34}, {'connected_gene': 'GC10M088853', 'score': 0.29}, {'connected_gene': 'STAMBPL1', 'score': 0.16}]
chr10 GH10I088975 88974438 88976000 1.02 [{'connected_gene': 'FAS', 'score': 0.44}, {'connected_gene': 'ACTA2', 'score': 0.37}, {'connected_gene': 'GC10M088853', 'score': 0.31}, {'connected_gene': 'STAMBPL1', 'score': 0.15}]
chr10 GH10I088988 88988929 88997555 2.41 [{'connected_gene': 'FAS', 'score': 585.66}, {'connected_gene': 'ACTA2', 'score': 577.5}, {'connected_gene': 'ENSG00000275693', 'score': 550.77}, {'connected_gene': 'FAS-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000240996', 'score': 11.42}, {'connected_gene': 'ACTA2-AS1', 'score': 11.2}, {'connected_gene': 'CH25H', 'score': 9.93}, {'connected_gene': 'GC10M088853', 'score': 0.44}]
chr10 GH10I088968 88968443 88969194 0.4 [{'connected_gene': 'FAS', 'score': 550.77}, {'connected_gene': 'ACTA2', 'score': 0.34}, {'connected_gene': 'GC10M088853', 'score': 0.29}, {'connected_gene': 'ACTA2-AS1', 'score': 0.28}, {'connected_gene': 'STAMBPL1', 'score': 0.17}]
chr10 GH10I088964 88964296 88965213 0.2 [{'connected_gene': 'FAS', 'score': 0.44}, {'connected_gene': 'ACTA2', 'score': 0.31}, {'connected_gene': 'ACTA2-AS1', 'score': 0.29}, {'connected_gene': 'GC10M088853', 'score': 0.28}, {'connected_gene': 'STAMBPL1', 'score': 0.17}]
chr10 GH10I088978 88978455 88978880 0.2 [{'connected_gene': 'FAS', 'score': 0.44}, {'connected_gene': 'ACTA2', 'score': 0.39}, {'connected_gene': 'GC10M088853', 'score': 0.34}]
chr10 GH10I088980 88980201 88981400 0.4 [{'connected_gene': 'FAS', 'score': 6.65}, {'connected_gene': 'ACTA2', 'score': 0.39}, {'connected_gene': 'GC10M088853', 'score': 0.34}]
chr10 GH10I088970 88970762 88972548 0.2 [{'connected_gene': 'FAS', 'score': 550.77}, {'connected_gene': 'STAMBPL1', 'score': 5.32}, {'connected_gene': 'ACTA2', 'score': 0.37}, {'connected_gene': 'GC10M088853', 'score': 0.29}]
chr10 GH10I088940 88940994 88943317 0.2 [{'connected_gene': 'FAS', 'score': 11.93}, {'connected_gene': 'LIPM', 'score': 6.06}, {'connected_gene': 'ACTA2-AS1', 'score': 0.44}, {'connected_gene': 'ACTA2', 'score': 0.25}, {'connected_gene': 'GC10M088853', 'score': 0.22}, {'connected_gene': 'STAMBPL1', 'score': 0.21}]
chr10 GH10I088969 88969246 88969632 0.2 [{'connected_gene': 'FAS', 'score': 550.77}, {'connected_gene': 'ANKRD22', 'score': 4.8}, {'connected_gene': 'ACTA2', 'score': 0.34}, {'connected_gene': 'GC10M088853', 'score': 0.29}, {'connected_gene': 'ACTA2-AS1', 'score': 0.28}, {'connected_gene': 'STAMBPL1', 'score': 0.16}]
chr10 GH10I088943 88943443 88944391 0.2 [{'connected_gene': 'FAS', 'score': 11.93}, {'connected_gene': 'ACTA2-AS1', 'score': 0.39}, {'connected_gene': 'ACTA2', 'score': 0.25}, {'connected_gene': 'GC10M088853', 'score': 0.22}, {'connected_gene': 'STAMBPL1', 'score': 0.21}]
chr10 GH10I088938 88938861 88940823 0.2 [{'connected_gene': 'FAS', 'score': 11.93}, {'connected_gene': 'ACTA2-AS1', 'score': 0.44}, {'connected_gene': 'ACTA2', 'score': 0.23}, {'connected_gene': 'GC10M088853', 'score': 0.21}, {'connected_gene': 'STAMBPL1', 'score': 0.21}]
chr10 GH10I088944 88944478 88944862 0.57 [{'connected_gene': 'FAS', 'score': 12.34}, {'connected_gene': 'ACTA2-AS1', 'score': 0.39}, {'connected_gene': 'ACTA2', 'score': 0.25}, {'connected_gene': 'GC10M088853', 'score': 0.22}, {'connected_gene': 'STAMBPL1', 'score': 0.2}]
chr10 GH10I088955 88955180 88955870 0.38 [{'connected_gene': 'FAS', 'score': 0.39}, {'connected_gene': 'ACTA2-AS1', 'score': 0.34}, {'connected_gene': 'ACTA2', 'score': 0.28}, {'connected_gene': 'GC10M088853', 'score': 0.25}, {'connected_gene': 'STAMBPL1', 'score': 0.18}]
chr10 GH10I088965 88965302 88967868 0.2 [{'connected_gene': 'ANKRD22', 'score': 5.37}, {'connected_gene': 'LINC00865', 'score': 4.19}, {'connected_gene': 'FAS', 'score': 0.77}, {'connected_gene': 'ACTA2', 'score': 0.34}, {'connected_gene': 'ACTA2-AS1', 'score': 0.29}, {'connected_gene': 'GC10M088853', 'score': 0.28}, {'connected_gene': 'STAMBPL1', 'score': 0.17}]
chr10 GH10I089215 89213364 89213493 0.85 [{'connected_gene': 'ACTA2-AS1', 'score': 11.76}, {'connected_gene': 'ACTA2', 'score': 10.85}, {'connected_gene': 'FAS', 'score': 10.85}, {'connected_gene': 'GC10P089210', 'score': 0.77}, {'connected_gene': 'IFIT2', 'score': 0.19}]
chr10 GH10I089213 89213633 89214433 0.38 [{'connected_gene': 'ACTA2-AS1', 'score': 11.76}, {'connected_gene': 'ACTA2', 'score': 10.85}, {'connected_gene': 'FAS', 'score': 10.85}, {'connected_gene': 'LIPA', 'score': 7.78}, {'connected_gene': 'GC10P089210', 'score': 0.77}, {'connected_gene': 'IFIT2', 'score': 0.2}]
chr10 GH10I089214 89214920 89216012 0.4 [{'connected_gene': 'ACTA2-AS1', 'score': 11.77}, {'connected_gene': 'ACTA2', 'score': 10.85}, {'connected_gene': 'FAS', 'score': 10.84}, {'connected_gene': 'LIPA', 'score': 7.46}, {'connected_gene': 'GC10P089210', 'score': 0.44}, {'connected_gene': 'IFIT2', 'score': 0.2}]
chr10 GH10I088937 88936104 88936113 0.51 [{'connected_gene': 'ACTA2-AS1', 'score': 0.77}, {'connected_gene': 'FAS', 'score': 0.29}, {'connected_gene': 'ACTA2', 'score': 0.22}, {'connected_gene': 'STAMBPL1', 'score': 0.22}, {'connected_gene': 'GC10M088853', 'score': 0.2}]

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