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
ENST00000303383 [[46614465, 46615966], [46617427, 46617569], [46617914, 46618001], [46629463, 46629582], [46633742, 46633874], [46637450, 46637571], [46637886, 46638055], [46638139, 46638373], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652116, 46652284], [46655168, 46655538]] [[46615640, 46615966], [46617427, 46617569], [46617914, 46618001], [46629463, 46629582], [46633742, 46633874], [46637450, 46637571], [46637886, 46638055], [46638139, 46638373], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652116, 46652284], [46655168, 46655271]]
ENST00000567698 [[46615824, 46615966], [46617427, 46617569], [46617914, 46618165]] None
ENST00000563219 [[46629535, 46629582], [46633742, 46633874], [46637450, 46637756]] None
ENST00000569702 [[46633840, 46633874], [46637450, 46637571], [46637886, 46638055], [46642208, 46642301], [46649857, 46649905]] [[46633840, 46633874], [46637450, 46637571], [46637886, 46638055], [46642208, 46642301], [46649857, 46649905]]
ENST00000566016 [[46637505, 46638055], [46638139, 46638373], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652116, 46652284], [46655168, 46655280]] None
ENST00000565887 [[46637901, 46638373], [46642208, 46642301], [46649857, 46649895]] None
ENST00000564272 [[46654377, 46654812], [46655168, 46655263]] None
NR_136738 [[46612502, 46615966], [46617427, 46617569], [46617914, 46618001], [46620640, 46620717], [46629463, 46629582], [46633742, 46633874], [46637450, 46637571], [46637886, 46638055], [46638139, 46638373], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652116, 46652284], [46655168, 46655314]] None
NM_001324319 [[46612502, 46615966], [46617427, 46617569], [46617914, 46618001], [46629463, 46629582], [46633742, 46633874], [46637450, 46637571], [46637886, 46638055], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652116, 46652284], [46655168, 46655314]] [[46615640, 46615966], [46617427, 46617569], [46617914, 46618001], [46629463, 46629582], [46633742, 46633874], [46637450, 46637571], [46637886, 46638055], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652116, 46652284], [46655168, 46655271]]
NM_001324318 [[46612502, 46615966], [46617427, 46617569], [46617914, 46618001], [46629463, 46629582], [46633742, 46633874], [46637450, 46637571], [46637886, 46638055], [46638139, 46638373], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652230, 46652284], [46655168, 46655314]] [[46615640, 46615966], [46617427, 46617569], [46617914, 46618001], [46629463, 46629582], [46633742, 46633874], [46637450, 46637571], [46637886, 46638055], [46638139, 46638373], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652230, 46652284], [46655168, 46655271]]
NM_024745 [[46614465, 46615966], [46617427, 46617569], [46617914, 46618001], [46629463, 46629582], [46633742, 46633874], [46637450, 46637571], [46637886, 46638055], [46638139, 46638373], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652116, 46652284], [46655168, 46655311]] [[46615640, 46615966], [46617427, 46617569], [46617914, 46618001], [46629463, 46629582], [46633742, 46633874], [46637450, 46637571], [46637886, 46638055], [46638139, 46638373], [46642208, 46642301], [46649857, 46650066], [46651545, 46651661], [46652116, 46652284], [46655168, 46655271]]
Promoter
Chrom Start End Description
chr16 46655208 46655316 CAGE_peak_1_at_SHCBP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I046746 46746478 46750226 1.76 [{'connected_gene': 'MYLK3', 'score': 566.38}, {'connected_gene': 'SHCBP1', 'score': 13.34}, {'connected_gene': 'ORC6', 'score': 11.25}, {'connected_gene': 'VPS35', 'score': 11.25}, {'connected_gene': 'GPT2', 'score': 3.82}, {'connected_gene': 'GC16M046768', 'score': 0.31}, {'connected_gene': 'GC16P046705', 'score': 0.26}]
chr16 GH16I046742 46742421 46744078 1.49 [{'connected_gene': 'MYLK3', 'score': 33.17}, {'connected_gene': 'ENSG00000261131', 'score': 12.53}, {'connected_gene': 'SHCBP1', 'score': 12.48}, {'connected_gene': 'GC16M046768', 'score': 0.29}, {'connected_gene': 'GC16P046705', 'score': 0.28}]
chr16 GH16I046735 46735361 46738937 0.38 [{'connected_gene': 'MYLK3', 'score': 12.11}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'SHCBP1', 'score': 11.3}, {'connected_gene': 'GPT2', 'score': 3.81}, {'connected_gene': 'GC16P046705', 'score': 0.29}, {'connected_gene': 'GC16M046768', 'score': 0.28}]
chr16 GH16I046882 46882074 46888251 2.29 [{'connected_gene': 'GPT2', 'score': 550.77}, {'connected_gene': 'ENSG00000261131', 'score': 21.16}, {'connected_gene': 'SHCBP1', 'score': 12.16}, {'connected_gene': 'ANKRD26P1', 'score': 3.87}, {'connected_gene': 'GC16P046894', 'score': 0.44}]
chr16 GH16I046910 46910369 46916239 0.74 [{'connected_gene': 'GPT2', 'score': 12.68}, {'connected_gene': 'SHCBP1', 'score': 11.76}, {'connected_gene': 'ENSG00000261131', 'score': 11.28}, {'connected_gene': 'GC16M046921', 'score': 0.39}, {'connected_gene': 'GC16P046894', 'score': 0.37}]
chr16 GH16I046859 46859352 46860825 1.04 [{'connected_gene': 'GPT2', 'score': 12.02}, {'connected_gene': 'SHCBP1', 'score': 9.05}, {'connected_gene': 'ENSG00000261725', 'score': 0.44}]
chr16 GH16I047523 47523133 47524304 1.02 [{'connected_gene': 'ITFG1', 'score': 10.52}, {'connected_gene': 'PHKB', 'score': 10.5}, {'connected_gene': 'SHCBP1', 'score': 5.06}, {'connected_gene': 'ENSG00000262038', 'score': 0.44}, {'connected_gene': 'RNA5SP425', 'score': 0.37}]
chr16 GH16I047459 47459225 47464187 2.26 [{'connected_gene': 'ITFG1', 'score': 550.77}, {'connected_gene': 'PHKB', 'score': 550.77}, {'connected_gene': 'ENSG00000261131', 'score': 22.99}, {'connected_gene': 'SIAH1', 'score': 11.22}, {'connected_gene': 'SHCBP1', 'score': 4.89}, {'connected_gene': 'GPT2', 'score': 4.44}, {'connected_gene': 'LONP2', 'score': 4.0}]
chr16 GH16I046864 46863976 46865111 1.31 [{'connected_gene': 'SHCBP1', 'score': 12.34}, {'connected_gene': 'MYLK3', 'score': 10.24}, {'connected_gene': 'ENSG00000261725', 'score': 0.39}, {'connected_gene': 'GPT2', 'score': 0.37}]
chr16 GH16I046727 46727729 46734556 0.38 [{'connected_gene': 'SHCBP1', 'score': 12.95}, {'connected_gene': 'MYLK3', 'score': 12.1}, {'connected_gene': 'ORC6', 'score': 11.54}, {'connected_gene': 'VPS35', 'score': 11.54}, {'connected_gene': 'ANKRD26P1', 'score': 5.55}, {'connected_gene': 'C16orf87', 'score': 4.23}, {'connected_gene': 'GC16P046705', 'score': 0.31}, {'connected_gene': 'GC16M046768', 'score': 0.26}]
chr16 GH16I046740 46740547 46742067 0.56 [{'connected_gene': 'SHCBP1', 'score': 12.94}, {'connected_gene': 'MYLK3', 'score': 12.54}, {'connected_gene': 'GC16M046768', 'score': 0.29}, {'connected_gene': 'GC16P046705', 'score': 0.28}]
chr16 GH16I046726 46726835 46727648 0.2 [{'connected_gene': 'SHCBP1', 'score': 11.31}, {'connected_gene': 'GC16P046705', 'score': 0.34}, {'connected_gene': 'GC16M046768', 'score': 0.25}, {'connected_gene': 'MYLK3', 'score': 0.21}]
chr16 GH16I046754 46754370 46755988 0.31 [{'connected_gene': 'SHCBP1', 'score': 13.36}, {'connected_gene': 'GC16M046768', 'score': 0.37}, {'connected_gene': 'MYLK3', 'score': 0.28}, {'connected_gene': 'GC16P046705', 'score': 0.23}]
chr16 GH16I046716 46716490 46718222 0.31 [{'connected_gene': 'SHCBP1', 'score': 12.36}, {'connected_gene': 'GC16P046705', 'score': 0.39}, {'connected_gene': 'GC16M046768', 'score': 0.22}, {'connected_gene': 'MYLK3', 'score': 0.19}]
chr16 GH16I046745 46745590 46746299 0.43 [{'connected_gene': 'SHCBP1', 'score': 12.12}, {'connected_gene': 'GPT2', 'score': 3.81}, {'connected_gene': 'GC16M046768', 'score': 0.31}, {'connected_gene': 'MYLK3', 'score': 0.26}, {'connected_gene': 'GC16P046705', 'score': 0.26}]
chr16 GH16I046751 46751259 46754116 0.49 [{'connected_gene': 'SHCBP1', 'score': 11.66}, {'connected_gene': 'GPT2', 'score': 4.71}, {'connected_gene': 'GC16M046768', 'score': 0.34}, {'connected_gene': 'MYLK3', 'score': 0.28}, {'connected_gene': 'GC16P046705', 'score': 0.25}]
chr16 GH16I046632 46632801 46633971 0.98 [{'connected_gene': 'SHCBP1', 'score': 12.07}, {'connected_gene': 'GPT2', 'score': 4.24}, {'connected_gene': 'RAB43P1', 'score': 0.44}, {'connected_gene': 'ENSG00000260909', 'score': 0.37}, {'connected_gene': 'GC16P046596', 'score': 0.28}, {'connected_gene': 'GC16P046597', 'score': 0.28}]
chr16 GH16I046905 46905683 46908825 0.71 [{'connected_gene': 'SHCBP1', 'score': 13.34}, {'connected_gene': 'GPT2', 'score': 12.7}, {'connected_gene': 'GC16P046894', 'score': 0.39}, {'connected_gene': 'GC16M046921', 'score': 0.37}]
chr16 GH16I046890 46890001 46890200 0.51 [{'connected_gene': 'SHCBP1', 'score': 12.32}, {'connected_gene': 'GC16P046894', 'score': 0.77}, {'connected_gene': 'GPT2', 'score': 0.44}]
chr16 GH16I046917 46917330 46921294 1.13 [{'connected_gene': 'SHCBP1', 'score': 10.72}, {'connected_gene': 'GC16M046921', 'score': 0.44}, {'connected_gene': 'GC16P046894', 'score': 0.31}, {'connected_gene': 'GPT2', 'score': 0.29}]
chr16 GH16I046855 46855710 46856560 0.6 [{'connected_gene': 'SHCBP1', 'score': 12.51}, {'connected_gene': 'ENSG00000261725', 'score': 0.44}, {'connected_gene': 'GPT2', 'score': 0.31}]
chr16 GH16I046899 46899257 46900020 0.51 [{'connected_gene': 'SHCBP1', 'score': 13.2}, {'connected_gene': 'GC16P046894', 'score': 0.44}, {'connected_gene': 'GPT2', 'score': 0.37}, {'connected_gene': 'GC16M046921', 'score': 0.31}]
chr16 GH16I046875 46875886 46877348 1.14 [{'connected_gene': 'SHCBP1', 'score': 13.08}, {'connected_gene': 'GPT2', 'score': 0.44}, {'connected_gene': 'ENSG00000261725', 'score': 0.31}]
chr16 GH16I046756 46756546 46758278 1.16 [{'connected_gene': 'SHCBP1', 'score': 14.0}, {'connected_gene': 'C16orf87', 'score': 6.53}, {'connected_gene': 'ORC6', 'score': 3.09}, {'connected_gene': 'GC16M046768', 'score': 0.37}, {'connected_gene': 'MYLK3', 'score': 0.29}, {'connected_gene': 'GC16P046705', 'score': 0.23}]
chr16 GH16I046821 46821221 46823450 0.67 [{'connected_gene': 'SHCBP1', 'score': 14.66}, {'connected_gene': 'C16orf87', 'score': 0.44}, {'connected_gene': 'GC16P046804', 'score': 0.37}]
chr16 GH16I046761 46761702 46764852 0.52 [{'connected_gene': 'SHCBP1', 'score': 13.77}, {'connected_gene': 'ANKRD26P1', 'score': 4.5}, {'connected_gene': 'GC16M046768', 'score': 0.39}, {'connected_gene': 'MYLK3', 'score': 0.31}, {'connected_gene': 'GC16P046705', 'score': 0.22}]
chr16 GH16I046857 46857294 46859187 1 [{'connected_gene': 'SHCBP1', 'score': 12.17}, {'connected_gene': 'ANKRD26P1', 'score': 4.23}, {'connected_gene': 'ENSG00000261725', 'score': 0.44}, {'connected_gene': 'GPT2', 'score': 0.31}]
chr16 GH16I046784 46784089 46788658 0.63 [{'connected_gene': 'SHCBP1', 'score': 14.78}, {'connected_gene': 'LOC100130180', 'score': 0.77}, {'connected_gene': 'MYLK3', 'score': 0.77}, {'connected_gene': 'GC16M046768', 'score': 0.39}]
chr16 GH16I046620 46620279 46622018 1.49 [{'connected_gene': 'SHCBP1', 'score': 550.77}, {'connected_gene': 'ENSG00000261131', 'score': 12.34}, {'connected_gene': 'GC16P046596', 'score': 0.34}, {'connected_gene': 'GC16P046597', 'score': 0.34}]
chr16 GH16I046623 46622269 46622418 0.46 [{'connected_gene': 'SHCBP1', 'score': 550.77}, {'connected_gene': 'GC16P046596', 'score': 0.31}, {'connected_gene': 'GC16P046597', 'score': 0.31}]
chr16 GH16I047491 47491233 47494833 1.49 [{'connected_gene': 'PHKB', 'score': 5.7}, {'connected_gene': 'LONP2', 'score': 4.11}, {'connected_gene': 'SHCBP1', 'score': 3.66}, {'connected_gene': 'PIR32661', 'score': 0.39}, {'connected_gene': 'ITFG1', 'score': 0.31}]
chr16 GH16I046828 46828768 46832167 2.03 [{'connected_gene': 'C16orf87', 'score': 550.77}, {'connected_gene': 'SHCBP1', 'score': 14.44}, {'connected_gene': 'GC16P046804', 'score': 0.31}]
chr16 GH16I046686 46686163 46691941 2.06 [{'connected_gene': 'ORC6', 'score': 550.77}, {'connected_gene': 'VPS35', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 13.88}, {'connected_gene': 'SHCBP1', 'score': 12.64}, {'connected_gene': 'ENSG00000261131', 'score': 12.39}, {'connected_gene': 'MYLK3', 'score': 10.89}, {'connected_gene': 'ANKRD26P1', 'score': 5.78}, {'connected_gene': 'ENSG00000280376', 'score': 0.37}]
chr16 GH16I046611 46611987 46612899 0.43 [{'connected_gene': 'ORC6', 'score': 11.27}, {'connected_gene': 'VPS35', 'score': 11.27}, {'connected_gene': 'SHCBP1', 'score': 0.39}, {'connected_gene': 'GC16P046596', 'score': 0.37}, {'connected_gene': 'GC16P046597', 'score': 0.37}]
chr16 GH16I046788 46788993 46791076 1.75 [{'connected_gene': 'LOC100130180', 'score': 550.77}, {'connected_gene': 'MYLK3', 'score': 550.77}, {'connected_gene': 'SHCBP1', 'score': 14.75}]
chr16 GH16I046893 46893689 46898529 1.31 [{'connected_gene': 'GC16P046894', 'score': 550.77}, {'connected_gene': 'SHCBP1', 'score': 11.8}, {'connected_gene': 'GPT2', 'score': 0.39}, {'connected_gene': 'GC16M046921', 'score': 0.31}]
chr16 GH16I046622 46622802 46624100 0.2 [{'connected_gene': 'ENSG00000261512', 'score': 550.77}, {'connected_gene': 'SHCBP1', 'score': 550.77}, {'connected_gene': 'RAB43P1', 'score': 0.77}, {'connected_gene': 'GC16P046596', 'score': 0.31}, {'connected_gene': 'GC16P046597', 'score': 0.31}]

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