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
ENST00000371721 [[92500577, 92502285], [92503607, 92503705], [92508595, 92509351], [92616889, 92617671]] [[92502238, 92502285], [92503607, 92503705], [92508595, 92509351], [92616889, 92617428]]
ENST00000277874 [[92500579, 92502285], [92508595, 92509351], [92616889, 92617455]] [[92502242, 92502285], [92508595, 92509351], [92616889, 92617428]]
ENST00000336152 [[92500579, 92502285], [92503349, 92503447], [92508595, 92509351], [92616889, 92617455]] [[92502238, 92502285], [92503349, 92503447], [92508595, 92509351], [92616889, 92617428]]
ENST00000371719 [[92500579, 92502285], [92508590, 92509351], [92616889, 92617455]] [[92508591, 92509351], [92616889, 92617428]]
NM_019860 [[92500574, 92502285], [92508590, 92509351], [92616889, 92617671]] [[92508591, 92509351], [92616889, 92617428]]
NM_019859 [[92500574, 92502285], [92503349, 92503447], [92508595, 92509351], [92616889, 92617671]] [[92502238, 92502285], [92503349, 92503447], [92508595, 92509351], [92616889, 92617428]]
NM_000872 [[92500574, 92502285], [92508595, 92509351], [92616889, 92617671]] [[92502242, 92502285], [92508595, 92509351], [92616889, 92617428]]
Promoter
Chrom Start End Description
chr10 92617421 92617432 CAGE_peak_11_at_HTR7_5end
chr10 92617437 92617456 CAGE_peak_4_at_HTR7_5end
chr10 92617481 92617488 CAGE_peak_10_at_HTR7_5end
chr10 92617497 92617515 CAGE_peak_3_at_HTR7_5end
chr10 92617531 92617541 CAGE_peak_8_at_HTR7_5end
chr10 92617740 92617801 CAGE_peak_1_at_HTR7_5end
chr10 92618148 92618173 CAGE_peak_9_at_HTR7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I089887 89887166 89890867 0.77 [{'connected_gene': 'IFIT1', 'score': 6.27}, {'connected_gene': 'HTR7', 'score': 4.9}, {'connected_gene': 'LINC00865', 'score': 4.83}, {'connected_gene': 'LIPA', 'score': 4.48}, {'connected_gene': 'GC10M089924', 'score': 0.28}, {'connected_gene': 'PIR54261', 'score': 0.25}]
chr10 GH10I090923 90923994 90926230 0.52 [{'connected_gene': 'HTR7', 'score': 14.65}, {'connected_gene': 'HECTD2', 'score': 4.0}, {'connected_gene': 'RNU6-740P', 'score': 0.77}, {'connected_gene': 'GC10M090939', 'score': 0.23}]
chr10 GH10I090855 90855586 90860273 2.02 [{'connected_gene': 'HTR7', 'score': 559.88}, {'connected_gene': 'HECTD2', 'score': 4.12}, {'connected_gene': 'RPP30', 'score': 0.39}]
chr10 GH10I090911 90911184 90913273 1.17 [{'connected_gene': 'HTR7', 'score': 15.76}, {'connected_gene': 'RPP30', 'score': 10.87}, {'connected_gene': 'GC10M090914', 'score': 0.77}, {'connected_gene': 'ANKRD1', 'score': 0.44}, {'connected_gene': 'PIR41318', 'score': 0.39}]
chr10 GH10I090751 90751504 90751653 0.64 [{'connected_gene': 'HTR7', 'score': 17.62}, {'connected_gene': 'RPP30', 'score': 12.32}, {'connected_gene': 'GC10M090738', 'score': 0.39}, {'connected_gene': 'GC10M090739', 'score': 0.39}, {'connected_gene': 'GC10M090736', 'score': 0.39}, {'connected_gene': 'GC10M090737', 'score': 0.39}, {'connected_gene': 'PIR51660', 'score': 0.29}]
chr10 GH10I090908 90908506 90911157 0.31 [{'connected_gene': 'HTR7', 'score': 16.09}, {'connected_gene': 'RPP30', 'score': 10.89}, {'connected_gene': 'GC10M090914', 'score': 0.44}, {'connected_gene': 'PIR41318', 'score': 0.39}]
chr10 GH10I090741 90741681 90742252 0.38 [{'connected_gene': 'HTR7', 'score': 15.21}, {'connected_gene': 'RPP30', 'score': 10.83}, {'connected_gene': 'GC10M090738', 'score': 0.44}, {'connected_gene': 'GC10M090739', 'score': 0.44}, {'connected_gene': 'GC10M090736', 'score': 0.44}, {'connected_gene': 'GC10M090737', 'score': 0.44}, {'connected_gene': 'PIR51660', 'score': 0.26}]
chr10 GH10I090833 90833930 90835060 0.4 [{'connected_gene': 'HTR7', 'score': 18.8}, {'connected_gene': 'RPP30', 'score': 11.08}, {'connected_gene': 'PIR38191', 'score': 0.77}]
chr10 GH10I090602 90602622 90604012 0.2 [{'connected_gene': 'HTR7', 'score': 6.53}, {'connected_gene': 'LOC101926942', 'score': 4.66}, {'connected_gene': 'ENSG00000283053', 'score': 0.34}, {'connected_gene': 'GC10M090527', 'score': 0.23}]
chr10 GH10I090816 90816456 90818918 0.63 [{'connected_gene': 'HTR7', 'score': 19.53}, {'connected_gene': 'PIR38191', 'score': 0.39}, {'connected_gene': 'PIR51660', 'score': 0.29}]
chr10 GH10I090742 90742304 90742473 0.52 [{'connected_gene': 'HTR7', 'score': 10.99}, {'connected_gene': 'GC10M090738', 'score': 0.44}, {'connected_gene': 'GC10M090739', 'score': 0.44}, {'connected_gene': 'GC10M090736', 'score': 0.44}, {'connected_gene': 'GC10M090737', 'score': 0.44}, {'connected_gene': 'PIR51660', 'score': 0.26}]
chr10 GH10I090804 90804304 90804453 0.2 [{'connected_gene': 'HTR7', 'score': 4.41}, {'connected_gene': 'PIR51660', 'score': 0.37}, {'connected_gene': 'PIR38191', 'score': 0.31}]
chr10 GH10I090674 90674363 90676516 0.31 [{'connected_gene': 'HTR7', 'score': 4.27}, {'connected_gene': 'GC10M090644', 'score': 0.37}, {'connected_gene': 'GC10M090738', 'score': 0.21}, {'connected_gene': 'GC10M090739', 'score': 0.21}, {'connected_gene': 'GC10M090736', 'score': 0.21}, {'connected_gene': 'GC10M090737', 'score': 0.21}]
chr10 GH10I090813 90813142 90814501 0.2 [{'connected_gene': 'HTR7', 'score': 16.31}, {'connected_gene': 'PIR38191', 'score': 0.37}, {'connected_gene': 'PIR51660', 'score': 0.31}]
chr10 GH10I090822 90822564 90822713 0.31 [{'connected_gene': 'HECTD2', 'score': 12.15}, {'connected_gene': 'HTR7', 'score': 11.53}, {'connected_gene': 'RPP30', 'score': 11.32}, {'connected_gene': 'PIR38191', 'score': 0.44}, {'connected_gene': 'PIR51660', 'score': 0.28}]
chr10 GH10I090775 90775185 90776093 0.63 [{'connected_gene': 'RPP30', 'score': 11.27}, {'connected_gene': 'HTR7', 'score': 11.04}, {'connected_gene': 'PIR51660', 'score': 0.39}, {'connected_gene': 'GC10M090738', 'score': 0.28}, {'connected_gene': 'GC10M090739', 'score': 0.28}, {'connected_gene': 'GC10M090736', 'score': 0.28}, {'connected_gene': 'GC10M090737', 'score': 0.28}]
chr10 GH10I090846 90846298 90851322 0.86 [{'connected_gene': 'RPP30', 'score': 11.71}, {'connected_gene': 'HTR7', 'score': 10.51}, {'connected_gene': 'PIR38191', 'score': 0.37}]
chr10 GH10I090884 90884003 90886414 0.43 [{'connected_gene': 'PIR59702', 'score': 550.77}, {'connected_gene': 'HTR7', 'score': 10.76}, {'connected_gene': 'ANKRD1', 'score': 10.41}, {'connected_gene': 'RNU6-740P', 'score': 10.41}, {'connected_gene': 'PIR41318', 'score': 0.39}, {'connected_gene': 'RPP30', 'score': 0.39}]
chr10 GH10I090880 90880184 90880333 0.6 [{'connected_gene': 'ENSG00000222305', 'score': 550.77}, {'connected_gene': 'HTR7', 'score': 10.69}, {'connected_gene': 'PIR59702', 'score': 0.77}, {'connected_gene': 'RPP30', 'score': 0.44}]
chr10 GH10I090805 90805344 90805573 0.38 [{'connected_gene': 'PIR51660', 'score': 0.37}, {'connected_gene': 'PIR38191', 'score': 0.31}, {'connected_gene': 'HTR7', 'score': 0.23}]
chr10 GH10I090914 90914878 90922751 1.88 [{'connected_gene': 'GC10M090914', 'score': 550.77}, {'connected_gene': 'ANKRD1', 'score': 550.77}, {'connected_gene': 'HTR7', 'score': 6.43}, {'connected_gene': 'HECTD2', 'score': 4.69}, {'connected_gene': 'RNU6-740P', 'score': 0.77}]