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
ENST00000441199 [[4688579, 4688954], [4689195, 4689347], [4689452, 4689666]] [[4689197, 4689347], [4689452, 4689647]]
ENST00000416307 [[4688579, 4688954], [4689251, 4689347], [4689452, 4689693]] [[4688936, 4688954], [4689251, 4689347], [4689452, 4689647]]
ENST00000328739 [[4688579, 4688954], [4689231, 4689347], [4689452, 4689727]] [[4688656, 4688954], [4689231, 4689347], [4689452, 4689647]]
ENST00000354194 [[4688579, 4688954], [4689452, 4689728]] [[4688936, 4688954], [4689452, 4689647]]
NM_001144939 [[4688579, 4688954], [4689195, 4689347], [4689452, 4689729]] [[4689197, 4689347], [4689452, 4689647]]
NM_182566 [[4688579, 4688954], [4689231, 4689347], [4689452, 4689729]] [[4688656, 4688954], [4689231, 4689347], [4689452, 4689647]]
NM_001144940 [[4688579, 4688954], [4689251, 4689347], [4689452, 4689729]] [[4688936, 4688954], [4689251, 4689347], [4689452, 4689647]]
NM_001144941 [[4688579, 4688954], [4689452, 4689729]] [[4688936, 4688954], [4689452, 4689647]]
Promoter
Chrom Start End Description
chr17 4689649 4689671 CAGE_peak_1_at_VMO1_5end
chr17 4689735 4689745 CAGE_peak_2_at_VMO1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I004769 4769754 4772839 1.85 [{'connected_gene': 'TM4SF5', 'score': 550.77}, {'connected_gene': 'CXCL16', 'score': 16.17}, {'connected_gene': 'ZMYND15', 'score': 9.46}, {'connected_gene': 'VMO1', 'score': 8.49}, {'connected_gene': 'ENSG00000262165', 'score': 6.03}, {'connected_gene': 'ARRB2', 'score': 4.92}, {'connected_gene': 'SPAG7', 'score': 1.99}, {'connected_gene': 'MINK1', 'score': 1.55}, {'connected_gene': 'SCIMP', 'score': 1.49}, {'connected_gene': 'GC17M004737', 'score': 0.21}]
chr17 GH17I004747 4747456 4748800 0.99 [{'connected_gene': 'ZNF594', 'score': 18.13}, {'connected_gene': 'CXCL16', 'score': 17.26}, {'connected_gene': 'LOC100130950', 'score': 16.45}, {'connected_gene': 'ZMYND15', 'score': 12.82}, {'connected_gene': 'RNU6-955P', 'score': 11.03}, {'connected_gene': 'PELP1', 'score': 10.11}, {'connected_gene': 'ENO3', 'score': 9.64}, {'connected_gene': 'PFN1', 'score': 9.64}, {'connected_gene': 'ARRB2', 'score': 8.79}, {'connected_gene': 'SCIMP', 'score': 7.27}, {'connected_gene': 'LOC102724009', 'score': 5.26}, {'connected_gene': 'C17orf107', 'score': 1.52}, {'connected_gene': 'VMO1', 'score': 1.43}, {'connected_gene': 'MINK1', 'score': 1.4}, {'connected_gene': 'TM4SF5', 'score': 0.34}, {'connected_gene': 'GC17M004737', 'score': 0.18}]
chr17 GH17I004764 4764202 4767600 1.03 [{'connected_gene': 'ZMYND15', 'score': 18.78}, {'connected_gene': 'CXCL16', 'score': 17.73}, {'connected_gene': 'ARRB2', 'score': 16.22}, {'connected_gene': 'C17orf107', 'score': 11.75}, {'connected_gene': 'VMO1', 'score': 7.98}, {'connected_gene': 'ENSG00000262165', 'score': 6.16}, {'connected_gene': 'SCIMP', 'score': 3.3}, {'connected_gene': 'MINK1', 'score': 2.49}, {'connected_gene': 'SPAG7', 'score': 1.76}, {'connected_gene': 'TM4SF5', 'score': 0.44}, {'connected_gene': 'GC17M004737', 'score': 0.2}]
chr17 GH17I004846 4846866 4847015 0.69 [{'connected_gene': 'PLD2', 'score': 12.83}, {'connected_gene': 'ARRB2', 'score': 11.7}, {'connected_gene': 'GLTPD2', 'score': 11.69}, {'connected_gene': 'PELP1', 'score': 11.69}, {'connected_gene': 'LOC101559451', 'score': 11.69}, {'connected_gene': 'RPS12P29', 'score': 11.69}, {'connected_gene': 'VMO1', 'score': 11.68}, {'connected_gene': 'CXCL16', 'score': 10.6}, {'connected_gene': 'ZMYND15', 'score': 10.6}, {'connected_gene': 'MINK1', 'score': 0.39}, {'connected_gene': 'ATP6V0CP1', 'score': 0.39}]
chr17 GH17I004583 4583432 4589752 2.07 [{'connected_gene': 'SMTNL2', 'score': 567.91}, {'connected_gene': 'GGT6', 'score': 19.65}, {'connected_gene': 'RNU6-955P', 'score': 12.79}, {'connected_gene': 'ALOX15', 'score': 12.45}, {'connected_gene': 'SHPK', 'score': 11.62}, {'connected_gene': 'DERL2', 'score': 10.37}, {'connected_gene': 'VMO1', 'score': 5.21}, {'connected_gene': 'LINC01996', 'score': 0.34}]
chr17 GH17I004780 4780437 4781080 0.31 [{'connected_gene': 'VMO1', 'score': 9.41}, {'connected_gene': 'TM4SF5', 'score': 0.44}, {'connected_gene': 'GC17M004737', 'score': 0.23}]
chr17 GH17I004759 4759433 4760423 1.15 [{'connected_gene': 'VMO1', 'score': 6.15}, {'connected_gene': 'ZNF232', 'score': 3.38}, {'connected_gene': 'ZMYND15', 'score': 3.1}, {'connected_gene': 'SCIMP', 'score': 2.26}, {'connected_gene': 'ARRB2', 'score': 2.04}, {'connected_gene': 'CXCL16', 'score': 1.96}, {'connected_gene': 'TM4SF5', 'score': 0.39}, {'connected_gene': 'GC17M004737', 'score': 0.19}]
chr17 GH17I004786 4786093 4791385 2.07 [{'connected_gene': 'VMO1', 'score': 564.08}, {'connected_gene': 'ENSG00000280254', 'score': 550.77}, {'connected_gene': 'GLTPD2', 'score': 550.77}, {'connected_gene': 'ZNF594', 'score': 18.14}, {'connected_gene': 'LOC100130950', 'score': 16.45}, {'connected_gene': 'PELP1', 'score': 10.03}, {'connected_gene': 'RNF167', 'score': 5.81}, {'connected_gene': 'PSMB6', 'score': 0.44}, {'connected_gene': 'GC17M004737', 'score': 0.26}]
chr17 GH17I004842 4842801 4846199 1.09 [{'connected_gene': 'CHRNE', 'score': 36.89}, {'connected_gene': 'ARRB2', 'score': 19.83}, {'connected_gene': 'ZMYND15', 'score': 16.86}, {'connected_gene': 'CXCL16', 'score': 13.78}, {'connected_gene': 'C17orf107', 'score': 13.68}, {'connected_gene': 'PLD2', 'score': 12.83}, {'connected_gene': 'ENO3', 'score': 12.74}, {'connected_gene': 'PSMB6', 'score': 11.92}, {'connected_gene': 'RPS12P29', 'score': 11.7}, {'connected_gene': 'VMO1', 'score': 11.69}, {'connected_gene': 'GLTPD2', 'score': 11.69}, {'connected_gene': 'PELP1', 'score': 11.69}, {'connected_gene': 'LOC101559451', 'score': 11.69}, {'connected_gene': 'SCIMP', 'score': 2.9}, {'connected_gene': 'MINK1', 'score': 2.67}, {'connected_gene': 'ATP6V0CP1', 'score': 0.39}]
chr17 GH17I004837 4837162 4841055 1.05 [{'connected_gene': 'CHRNE', 'score': 38.43}, {'connected_gene': 'ENO3', 'score': 21.15}, {'connected_gene': 'SPAG7', 'score': 16.88}, {'connected_gene': 'PLD2', 'score': 12.23}, {'connected_gene': 'VMO1', 'score': 11.4}, {'connected_gene': 'GLTPD2', 'score': 11.4}, {'connected_gene': 'CXCL16', 'score': 11.03}, {'connected_gene': 'ZMYND15', 'score': 11.03}, {'connected_gene': 'ENSG00000234203', 'score': 10.7}, {'connected_gene': 'PFN1', 'score': 10.62}, {'connected_gene': 'SLC25A11', 'score': 10.49}, {'connected_gene': 'RNF167', 'score': 10.49}, {'connected_gene': 'CAMTA2', 'score': 10.12}, {'connected_gene': 'ENSG00000262165', 'score': 8.85}, {'connected_gene': 'ZNF594', 'score': 4.96}, {'connected_gene': 'MINK1', 'score': 0.44}, {'connected_gene': 'ATP6V0CP1', 'score': 0.37}]
chr17 GH17I004847 4847426 4851837 1.33 [{'connected_gene': 'CHRNE', 'score': 39.43}, {'connected_gene': 'ENO3', 'score': 22.59}, {'connected_gene': 'PFN1', 'score': 15.0}, {'connected_gene': 'ZMYND15', 'score': 14.98}, {'connected_gene': 'ARRB2', 'score': 14.73}, {'connected_gene': 'C17orf107', 'score': 14.25}, {'connected_gene': 'PLD2', 'score': 12.81}, {'connected_gene': 'CXCL16', 'score': 12.37}, {'connected_gene': 'PELP1', 'score': 11.69}, {'connected_gene': 'LOC101559451', 'score': 11.69}, {'connected_gene': 'RPS12P29', 'score': 11.69}, {'connected_gene': 'VMO1', 'score': 11.68}, {'connected_gene': 'GLTPD2', 'score': 11.68}, {'connected_gene': 'RNU6-955P', 'score': 10.19}, {'connected_gene': 'ENSG00000262165', 'score': 6.83}, {'connected_gene': 'MINK1', 'score': 3.19}, {'connected_gene': 'RNF167', 'score': 2.66}, {'connected_gene': 'UBE2G1', 'score': 2.22}, {'connected_gene': 'ZNF232', 'score': 1.83}, {'connected_gene': 'RABEP1', 'score': 1.28}, {'connected_gene': 'CAMTA2', 'score': 1.27}, {'connected_gene': 'ATP6V0CP1', 'score': 0.44}]