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
ENST00000477735 [[178865901, 178866007], [178916537, 178916676]] [[178916613, 178916676]]
ENST00000263967 [[178866310, 178866391], [178916537, 178916965], [178917477, 178917687], [178919077, 178919328], [178921331, 178921577], [178922290, 178922376], [178927382, 178927488], [178927973, 178928126], [178928218, 178928353], [178935997, 178936122], [178936983, 178937065], [178937358, 178937523], [178937736, 178937840], [178938773, 178938945], [178941868, 178941975], [178942487, 178942609], [178943749, 178943828], [178947059, 178947230], [178947791, 178947909], [178948012, 178948164], [178951881, 178957881]] [[178916613, 178916965], [178917477, 178917687], [178919077, 178919328], [178921331, 178921577], [178922290, 178922376], [178927382, 178927488], [178927973, 178928126], [178928218, 178928353], [178935997, 178936122], [178936983, 178937065], [178937358, 178937523], [178937736, 178937840], [178938773, 178938945], [178941868, 178941975], [178942487, 178942609], [178943749, 178943828], [178947059, 178947230], [178947791, 178947909], [178948012, 178948164], [178951881, 178952152]]
ENST00000468036 [[178867314, 178867504], [178916537, 178916967]] [[178916613, 178916967]]
ENST00000462255 [[178937338, 178937523], [178937736, 178937840], [178938773, 178938945], [178941868, 178941975], [178942487, 178942609], [178943749, 178943805]] None
NM_006218 [[178866310, 178866391], [178916537, 178916965], [178917477, 178917687], [178919077, 178919328], [178921331, 178921577], [178922290, 178922376], [178927382, 178927488], [178927973, 178928126], [178928218, 178928353], [178935997, 178936122], [178936983, 178937065], [178937358, 178937523], [178937736, 178937840], [178938773, 178938945], [178941868, 178941975], [178942487, 178942609], [178943749, 178943828], [178947059, 178947230], [178947791, 178947909], [178948012, 178948164], [178951881, 178957881]] [[178916613, 178916965], [178917477, 178917687], [178919077, 178919328], [178921331, 178921577], [178922290, 178922376], [178927382, 178927488], [178927973, 178928126], [178928218, 178928353], [178935997, 178936122], [178936983, 178937065], [178937358, 178937523], [178937736, 178937840], [178938773, 178938945], [178941868, 178941975], [178942487, 178942609], [178943749, 178943828], [178947059, 178947230], [178947791, 178947909], [178948012, 178948164], [178951881, 178952152]]
Promoter
Chrom Start End Description
chr3 178865887 178865938 CAGE_peak_2_at_PIK3CA_5end
chr3 178865989 178865996 CAGE_peak_6_at_PIK3CA_5end
chr3 178866130 178866177 CAGE_peak_1_at_PIK3CA_5end
chr3 178866199 178866208 CAGE_peak_3_at_PIK3CA_5end
chr3 178916550 178916554 CAGE_peak_7_at_PIK3CA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I179016 179016761 179018021 0.49 [{'connected_gene': 'ZMAT3', 'score': 11.75}, {'connected_gene': 'ZNF639', 'score': 11.68}, {'connected_gene': 'LOC101928739', 'score': 11.42}, {'connected_gene': 'PIK3CA', 'score': 11.42}, {'connected_gene': 'GC03M179018', 'score': 0.77}, {'connected_gene': 'KCNMB2-AS1', 'score': 0.1}]
chr3 GH03I179026 179026561 179028159 0.78 [{'connected_gene': 'ZMAT3', 'score': 11.8}, {'connected_gene': 'ZNF639', 'score': 10.65}, {'connected_gene': 'LOC101928739', 'score': 10.53}, {'connected_gene': 'PIK3CA', 'score': 10.53}, {'connected_gene': 'GC03M179018', 'score': 0.44}]
chr3 GH03I179068 179068806 179072628 2.27 [{'connected_gene': 'ZMAT3', 'score': 562.5}, {'connected_gene': 'LOC101928739', 'score': 11.02}, {'connected_gene': 'PIK3CA', 'score': 11.02}, {'connected_gene': 'ZNF639', 'score': 10.79}, {'connected_gene': 'GC03M179018', 'score': 0.23}]
chr3 GH03I179175 179175818 179175877 0.5 [{'connected_gene': 'PIK3CA', 'score': 561.54}, {'connected_gene': 'LOC101928739', 'score': 11.54}, {'connected_gene': 'ZNF639', 'score': 10.38}, {'connected_gene': 'ENSG00000201957', 'score': 0.44}, {'connected_gene': 'GC03P179235', 'score': 0.22}]
chr3 GH03I179321 179321381 179325640 2.03 [{'connected_gene': 'ZNF639', 'score': 567.47}, {'connected_gene': 'MFN1', 'score': 45.29}, {'connected_gene': 'ENSG00000242539', 'score': 12.25}, {'connected_gene': 'LOC101928739', 'score': 10.5}, {'connected_gene': 'PIK3CA', 'score': 10.5}, {'connected_gene': 'ENSG00000260743', 'score': 0.37}]
chr3 GH03I179064 179064033 179064182 0.71 [{'connected_gene': 'ZNF639', 'score': 10.87}, {'connected_gene': 'LOC101928739', 'score': 10.6}, {'connected_gene': 'PIK3CA', 'score': 10.6}, {'connected_gene': 'ZMAT3', 'score': 0.44}, {'connected_gene': 'GC03M179018', 'score': 0.26}]
chr3 GH03I179093 179093069 179094540 0.38 [{'connected_gene': 'ZNF639', 'score': 15.85}, {'connected_gene': 'LOC101928739', 'score': 11.19}, {'connected_gene': 'PIK3CA', 'score': 11.19}, {'connected_gene': 'KCNMB3', 'score': 4.6}, {'connected_gene': 'GC03P179098', 'score': 0.77}, {'connected_gene': 'ZMAT3', 'score': 0.34}]
chr3 GH03I179107 179107714 179108822 0.31 [{'connected_gene': 'ZNF639', 'score': 11.33}, {'connected_gene': 'LOC101928739', 'score': 11.1}, {'connected_gene': 'PIK3CA', 'score': 11.1}, {'connected_gene': 'KCNMB3', 'score': 4.69}, {'connected_gene': 'ENSG00000200616', 'score': 0.39}]
chr3 GH03I179315 179315886 179316600 0.97 [{'connected_gene': 'ZNF639', 'score': 14.87}, {'connected_gene': 'LOC101928739', 'score': 11.1}, {'connected_gene': 'PIK3CA', 'score': 11.1}, {'connected_gene': 'KCNMB3', 'score': 0.25}]
chr3 GH03I179033 179033483 179039310 1.44 [{'connected_gene': 'LOC101928739', 'score': 10.54}, {'connected_gene': 'PIK3CA', 'score': 10.54}, {'connected_gene': 'ZMAT3', 'score': 6.8}, {'connected_gene': 'KCNMB3', 'score': 3.35}, {'connected_gene': 'GC03M179018', 'score': 0.37}]
chr3 GH03I179146 179146724 179150329 2.07 [{'connected_gene': 'LOC101928739', 'score': 550.77}, {'connected_gene': 'PIK3CA', 'score': 550.77}, {'connected_gene': 'ENSG00000242539', 'score': 4.2}, {'connected_gene': 'ZNF639', 'score': 4.15}, {'connected_gene': 'ENSG00000201957', 'score': 0.34}]
chr3 GH03I179179 179179614 179182699 1.07 [{'connected_gene': 'LOC101928739', 'score': 12.03}, {'connected_gene': 'PIK3CA', 'score': 12.03}, {'connected_gene': 'KCNMB3', 'score': 8.16}, {'connected_gene': 'ENSG00000201957', 'score': 0.39}, {'connected_gene': 'GC03P179235', 'score': 0.23}]
chr3 GH03I179189 179189297 179191666 0.4 [{'connected_gene': 'LOC101928739', 'score': 11.34}, {'connected_gene': 'PIK3CA', 'score': 11.34}, {'connected_gene': 'KCNMB3', 'score': 8.99}, {'connected_gene': 'ENSG00000201957', 'score': 0.34}, {'connected_gene': 'GC03P179235', 'score': 0.25}]
chr3 GH03I179196 179195001 179195200 0.4 [{'connected_gene': 'LOC101928739', 'score': 11.15}, {'connected_gene': 'PIK3CA', 'score': 11.15}, {'connected_gene': 'KCNMB3', 'score': 9.72}, {'connected_gene': 'ENSG00000201957', 'score': 0.31}, {'connected_gene': 'GC03P179235', 'score': 0.26}]
chr3 GH03I179195 179195538 179197055 0.59 [{'connected_gene': 'LOC101928739', 'score': 11.3}, {'connected_gene': 'PIK3CA', 'score': 11.3}, {'connected_gene': 'ENSG00000201957', 'score': 0.31}, {'connected_gene': 'GC03P179235', 'score': 0.28}]
chr3 GH03I179194 179194401 179194800 0.31 [{'connected_gene': 'LOC101928739', 'score': 11.15}, {'connected_gene': 'PIK3CA', 'score': 11.15}, {'connected_gene': 'ENSG00000201957', 'score': 0.31}, {'connected_gene': 'GC03P179235', 'score': 0.26}]
chr3 GH03I179260 179260560 179262124 1.75 [{'connected_gene': 'LRRFIP1P1', 'score': 550.77}, {'connected_gene': 'ZNF639', 'score': 11.33}, {'connected_gene': 'GNB4', 'score': 1.69}, {'connected_gene': 'MFN1', 'score': 1.6}, {'connected_gene': 'PIK3CA', 'score': 1.39}, {'connected_gene': 'KCNMB3', 'score': 0.44}, {'connected_gene': 'GC03P179238', 'score': 0.34}]
chr3 GH03I179020 179020601 179020800 0.51 [{'connected_gene': 'GC03M179018', 'score': 550.77}, {'connected_gene': 'ZMAT3', 'score': 11.75}, {'connected_gene': 'ZNF639', 'score': 11.68}, {'connected_gene': 'LOC101928739', 'score': 11.43}, {'connected_gene': 'PIK3CA', 'score': 11.43}]
chr3 GH03I179098 179098400 179098971 0.67 [{'connected_gene': 'ENSG00000200616', 'score': 550.77}, {'connected_gene': 'GC03P179098', 'score': 550.77}, {'connected_gene': 'ZMAT3', 'score': 12.32}, {'connected_gene': 'LOC101928739', 'score': 10.86}, {'connected_gene': 'PIK3CA', 'score': 10.86}, {'connected_gene': 'ZNF639', 'score': 10.77}]