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
ENST00000301838 [[70049268, 70049851], [70052238, 70053496]] [[70049565, 70049851], [70052238, 70052579]]
NM_003824 [[70049268, 70049851], [70052238, 70053508]] [[70049565, 70049851], [70052238, 70052579]]
Promoter
Chrom Start End Description
chr11 70049367 70049379 CAGE_peak_3_at_FADD_5end
chr11 70049394 70049445 CAGE_peak_1_at_FADD_5end
chr11 70049448 70049466 CAGE_peak_2_at_FADD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I069947 69947607 69950765 1.62 [{'connected_gene': 'FADD', 'score': 12.18}, {'connected_gene': 'ENSG00000254721', 'score': 10.72}, {'connected_gene': 'ANO1', 'score': 10.63}, {'connected_gene': 'ANO1-AS1', 'score': 10.59}, {'connected_gene': 'ENSG00000260679', 'score': 0.34}, {'connected_gene': 'ENSG00000255191', 'score': 0.28}]
chr11 GH11I070202 70202324 70206109 2.24 [{'connected_gene': 'FADD', 'score': 550.77}, {'connected_gene': 'ENSG00000254721', 'score': 0.77}]
chr11 GH11I070242 70242646 70246866 0.76 [{'connected_gene': 'PPFIA1', 'score': 18.58}, {'connected_gene': 'FADD', 'score': 17.3}, {'connected_gene': 'ENSG00000254721', 'score': 11.57}, {'connected_gene': 'LOC105369373', 'score': 11.0}, {'connected_gene': 'ANO1-AS1', 'score': 10.47}, {'connected_gene': 'CTTN', 'score': 10.45}, {'connected_gene': 'ENSG00000246889', 'score': 10.45}, {'connected_gene': 'GC11M070237', 'score': 0.44}, {'connected_gene': 'GC11P070255', 'score': 0.39}]
chr11 GH11I070232 70232899 70234612 1.19 [{'connected_gene': 'PPFIA1', 'score': 17.42}, {'connected_gene': 'CTTN', 'score': 15.9}, {'connected_gene': 'FADD', 'score': 14.25}, {'connected_gene': 'ENSG00000254721', 'score': 11.61}, {'connected_gene': 'LOC105369373', 'score': 10.98}, {'connected_gene': 'ANO1-AS1', 'score': 10.49}, {'connected_gene': 'ENSG00000246889', 'score': 10.44}, {'connected_gene': 'ANO1', 'score': 1.52}, {'connected_gene': 'GC11M070237', 'score': 0.77}, {'connected_gene': 'PIR45158', 'score': 0.34}, {'connected_gene': 'GC11P070210', 'score': 0.34}]
chr11 GH11I070414 70414374 70416411 0.8 [{'connected_gene': 'PPFIA1', 'score': 28.34}, {'connected_gene': 'LOC105369373', 'score': 11.22}, {'connected_gene': 'ENSG00000254721', 'score': 10.93}, {'connected_gene': 'FADD', 'score': 10.93}, {'connected_gene': 'ENSG00000254495', 'score': 10.79}, {'connected_gene': 'CTTN', 'score': 10.03}, {'connected_gene': 'ENSG00000246889', 'score': 0.37}, {'connected_gene': 'GC11P070444', 'score': 0.31}]
chr11 GH11I069355 69355387 69357549 0.81 [{'connected_gene': 'PPP6R3', 'score': 28.37}, {'connected_gene': 'ORAOV1', 'score': 23.91}, {'connected_gene': 'MYEOV', 'score': 23.03}, {'connected_gene': 'MRGPRF', 'score': 18.54}, {'connected_gene': 'ENSG00000260808', 'score': 13.88}, {'connected_gene': 'TPCN2', 'score': 12.98}, {'connected_gene': 'MRGPRF-AS1', 'score': 11.58}, {'connected_gene': 'FADD', 'score': 11.4}, {'connected_gene': 'ENSG00000261625', 'score': 11.02}, {'connected_gene': 'ANO1', 'score': 9.95}, {'connected_gene': 'GC11P069370', 'score': 0.39}, {'connected_gene': 'IFITM9P', 'score': 0.23}, {'connected_gene': 'LOC105369370', 'score': 0.22}]
chr11 GH11I069434 69434220 69438335 1.33 [{'connected_gene': 'PPP6R3', 'score': 18.43}, {'connected_gene': 'ENSG00000260808', 'score': 13.88}, {'connected_gene': 'TPCN2', 'score': 12.97}, {'connected_gene': 'ORAOV1', 'score': 11.55}, {'connected_gene': 'FADD', 'score': 11.4}, {'connected_gene': 'MRGPRF', 'score': 9.77}, {'connected_gene': 'PPFIA1', 'score': 4.8}, {'connected_gene': 'ENSG00000255606', 'score': 0.44}, {'connected_gene': 'LOC102724265', 'score': 0.39}]
chr11 GH11I070048 70048655 70048984 1.19 [{'connected_gene': 'ANO1', 'score': 8.31}, {'connected_gene': 'FADD', 'score': 4.92}, {'connected_gene': 'LOC101928443', 'score': 0.37}, {'connected_gene': 'ENSG00000254605', 'score': 0.31}]
chr11 GH11I069292 69292828 69304385 2.31 [{'connected_gene': 'MYEOV', 'score': 550.77}, {'connected_gene': 'LOC105369370', 'score': 550.77}, {'connected_gene': 'ORAOV1', 'score': 53.11}, {'connected_gene': 'TPCN2', 'score': 32.88}, {'connected_gene': 'PPP6R3', 'score': 31.91}, {'connected_gene': 'ENSG00000260808', 'score': 22.89}, {'connected_gene': 'FADD', 'score': 19.91}, {'connected_gene': 'IGHMBP2', 'score': 14.28}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'ANO1', 'score': 9.95}, {'connected_gene': 'MRGPRF-AS1', 'score': 9.81}, {'connected_gene': 'MRGPRF', 'score': 9.78}, {'connected_gene': 'ENSG00000260877', 'score': 5.06}, {'connected_gene': 'LOC338694', 'score': 4.39}, {'connected_gene': 'IFITM9P', 'score': 0.44}]
chr11 GH11I069842 69842213 69842362 0.57 [{'connected_gene': 'FGF3', 'score': 12.57}, {'connected_gene': 'FGF4', 'score': 11.47}, {'connected_gene': 'FADD', 'score': 10.31}, {'connected_gene': 'ENSG00000254721', 'score': 10.31}, {'connected_gene': 'ENSG00000260348', 'score': 0.2}]
chr11 GH11I069843 69843193 69843322 0.2 [{'connected_gene': 'FGF3', 'score': 12.57}, {'connected_gene': 'FGF4', 'score': 11.47}, {'connected_gene': 'FADD', 'score': 10.31}, {'connected_gene': 'ENSG00000254721', 'score': 10.31}, {'connected_gene': 'ENSG00000260348', 'score': 0.2}]
chr11 GH11I070090 70090708 70093205 0.67 [{'connected_gene': 'ORAOV1', 'score': 11.53}, {'connected_gene': 'FADD', 'score': 11.51}, {'connected_gene': 'LOC101928443', 'score': 5.54}, {'connected_gene': 'ANO1', 'score': 5.21}, {'connected_gene': 'ENSG00000255143', 'score': 0.28}]
chr11 GH11I069273 69273699 69275471 1.28 [{'connected_gene': 'ORAOV1', 'score': 32.22}, {'connected_gene': 'PPP6R3', 'score': 31.15}, {'connected_gene': 'ENSG00000260808', 'score': 22.96}, {'connected_gene': 'TPCN2', 'score': 20.96}, {'connected_gene': 'FADD', 'score': 11.4}, {'connected_gene': 'MRGPRF-AS1', 'score': 11.34}, {'connected_gene': 'IGHMBP2', 'score': 10.53}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'ANO1', 'score': 9.95}, {'connected_gene': 'MRGPRF', 'score': 9.79}, {'connected_gene': 'GC11M069240', 'score': 0.77}, {'connected_gene': 'MYEOV', 'score': 0.37}]
chr11 GH11I070419 70419417 70421502 0.98 [{'connected_gene': 'CTTN', 'score': 9.51}, {'connected_gene': 'FADD', 'score': 4.89}, {'connected_gene': 'ENSG00000246889', 'score': 0.34}, {'connected_gene': 'GC11P070444', 'score': 0.34}]
chr11 GH11I070396 70396956 70401200 2.35 [{'connected_gene': 'CTTN', 'score': 561.05}, {'connected_gene': 'ENSG00000246889', 'score': 550.77}, {'connected_gene': 'PPFIA1', 'score': 46.9}, {'connected_gene': 'FADD', 'score': 1.98}, {'connected_gene': 'ANO1', 'score': 1.71}, {'connected_gene': 'GC11P070444', 'score': 0.25}]
chr11 GH11I070174 70174420 70175636 0.38 [{'connected_gene': 'LOC101928473', 'score': 550.77}, {'connected_gene': 'FADD', 'score': 11.65}, {'connected_gene': 'ENSG00000254721', 'score': 11.63}, {'connected_gene': 'GC11P070167', 'score': 0.44}, {'connected_gene': 'ANO1', 'score': 0.15}]
chr11 GH11I070646 70646396 70646740 0.62 [{'connected_gene': 'SHANK2-AS2', 'score': 550.77}, {'connected_gene': 'ORAOV1', 'score': 47.31}, {'connected_gene': 'NADSYN1', 'score': 22.82}, {'connected_gene': 'FADD', 'score': 11.79}, {'connected_gene': 'CTTN', 'score': 10.59}, {'connected_gene': 'ENSG00000254495', 'score': 10.33}, {'connected_gene': 'GC11M070662', 'score': 0.37}, {'connected_gene': 'SHANK2', 'score': 0.03}]
chr11 GH11I070191 70191635 70191784 0.74 [{'connected_gene': 'ANO1-AS1', 'score': 0.77}, {'connected_gene': 'FADD', 'score': 0.39}, {'connected_gene': 'GC11P070167', 'score': 0.31}]
chr11 GH11I070196 70196215 70196364 0.81 [{'connected_gene': 'ANO1-AS1', 'score': 0.44}, {'connected_gene': 'FADD', 'score': 0.44}, {'connected_gene': 'GC11P070167', 'score': 0.29}]
chr11 GH11I070154 70154965 70161060 1.04 [{'connected_gene': 'ANO1-AS1', 'score': 11.49}, {'connected_gene': 'FGF4', 'score': 9.83}, {'connected_gene': 'ANO1', 'score': 7.38}, {'connected_gene': 'PPFIA1', 'score': 2.05}, {'connected_gene': 'CTTN', 'score': 1.85}, {'connected_gene': 'FADD', 'score': 1.5}, {'connected_gene': 'GC11P070167', 'score': 0.44}, {'connected_gene': 'LOC105369372', 'score': 0.37}]