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
ENST00000320354 [[86600856, 86602539]] [[86600941, 86602447]]
NM_005251 [[86600856, 86602539]] [[86600941, 86602447]]
Promoter
Chrom Start End Description
chr16 86600426 86600441 CAGE_peak_1_at_FOXC2_5end
chr16 86600458 86600461 CAGE_peak_3_at_FOXC2_5end
chr16 86600870 86600921 CAGE_peak_2_at_FOXC2_5end
chr16 86601052 86601066 CAGE_peak_4_at_FOXC2_5end
chr16 86601088 86601105 CAGE_peak_5_at_FOXC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I086386 86386278 86393705 1.46 [{'connected_gene': 'LINC00917', 'score': 11.52}, {'connected_gene': 'FOXF1', 'score': 1.97}, {'connected_gene': 'FOXC2', 'score': 1.69}, {'connected_gene': 'LOC401864', 'score': 0.25}]
chr16 GH16I086519 86519753 86520510 1.1 [{'connected_gene': 'MTHFSD', 'score': 23.78}, {'connected_gene': 'LINC00917', 'score': 10.53}, {'connected_gene': 'FOXC2', 'score': 9.9}, {'connected_gene': 'FOXF1', 'score': 5.47}, {'connected_gene': 'ENSG00000270020', 'score': 0.77}]
chr16 GH16I086950 86950801 86953861 1.63 [{'connected_gene': 'MTHFSD', 'score': 40.58}, {'connected_gene': 'ZCCHC14', 'score': 40.49}, {'connected_gene': 'LOC101928659', 'score': 38.25}, {'connected_gene': 'KLHDC4', 'score': 10.43}, {'connected_gene': 'LINC02181', 'score': 7.89}, {'connected_gene': 'FOXC2', 'score': 6.31}, {'connected_gene': 'FOXL1', 'score': 1.29}, {'connected_gene': 'GC16M086906', 'score': 0.25}, {'connected_gene': 'LOC105371393', 'score': 0.14}]
chr16 GH16I087062 87062401 87063200 0.96 [{'connected_gene': 'MTHFSD', 'score': 23.62}, {'connected_gene': 'FOXC2', 'score': 11.44}, {'connected_gene': 'ENSG00000269901', 'score': 11.1}, {'connected_gene': 'LINC02181', 'score': 6.59}, {'connected_gene': 'ENSG00000261363', 'score': 0.77}]
chr16 GH16I087263 87263575 87263724 0.57 [{'connected_gene': 'MTHFSD', 'score': 10.47}, {'connected_gene': 'FOXC2', 'score': 10.47}, {'connected_gene': 'C16orf95', 'score': 5.34}, {'connected_gene': 'RPL39P30', 'score': 0.77}, {'connected_gene': 'LOC101928682', 'score': 0.31}, {'connected_gene': 'ENSG00000261651', 'score': 0.25}]
chr16 GH16I087258 87258898 87258987 0.54 [{'connected_gene': 'MTHFSD', 'score': 10.64}, {'connected_gene': 'FOXC2', 'score': 10.64}, {'connected_gene': 'RPL39P30', 'score': 0.44}, {'connected_gene': 'ENSG00000261651', 'score': 0.26}, {'connected_gene': 'C16orf95', 'score': 0.22}]
chr16 GH16I086583 86583910 86587263 1.22 [{'connected_gene': 'MTHFSD', 'score': 12.06}, {'connected_gene': 'ENSG00000270020', 'score': 6.79}, {'connected_gene': 'FOXL1', 'score': 5.09}, {'connected_gene': 'FOXC2', 'score': 2.43}, {'connected_gene': 'GC16P086582', 'score': 0.77}, {'connected_gene': 'ENSG00000279142', 'score': 0.44}]
chr16 GH16I086589 86589337 86591395 1.2 [{'connected_gene': 'MTHFSD', 'score': 24.24}, {'connected_gene': 'ENSG00000270184', 'score': 15.08}, {'connected_gene': 'RN7SL381P', 'score': 13.4}, {'connected_gene': 'FOXC2', 'score': 12.11}, {'connected_gene': 'ENSG00000269901', 'score': 11.07}, {'connected_gene': 'RNU1-103P', 'score': 10.99}, {'connected_gene': 'ENSG00000270020', 'score': 7.95}, {'connected_gene': 'ENSG00000279142', 'score': 0.77}, {'connected_gene': 'GC16P086582', 'score': 0.44}]
chr16 GH16I087059 87059931 87061200 0.69 [{'connected_gene': 'FOXC2', 'score': 11.43}, {'connected_gene': 'MTHFSD', 'score': 11.42}, {'connected_gene': 'LINC02181', 'score': 10.46}, {'connected_gene': 'ENSG00000261363', 'score': 0.44}]
chr16 GH16I087052 87052458 87053904 1.08 [{'connected_gene': 'FOXC2', 'score': 11.56}, {'connected_gene': 'MTHFSD', 'score': 11.56}, {'connected_gene': 'LOC105371393', 'score': 0.77}, {'connected_gene': 'GC16M086906', 'score': 0.11}]
chr16 GH16I087289 87289050 87289293 0.2 [{'connected_gene': 'FOXC2', 'score': 11.23}, {'connected_gene': 'MTHFSD', 'score': 11.23}, {'connected_gene': 'LOC101928682', 'score': 0.77}, {'connected_gene': 'GC16P087283', 'score': 0.44}, {'connected_gene': 'C16orf95', 'score': 0.31}]
chr16 GH16I086563 86563131 86583299 2.71 [{'connected_gene': 'FOXC2', 'score': 554.49}, {'connected_gene': 'FOXL1', 'score': 550.77}, {'connected_gene': 'MTHFSD', 'score': 12.73}, {'connected_gene': 'FOXC2-AS1', 'score': 8.58}, {'connected_gene': 'ENSG00000270020', 'score': 8.32}, {'connected_gene': 'GC16P086582', 'score': 0.44}]
chr16 GH16I086923 86923934 86927141 1.3 [{'connected_gene': 'FOXC2', 'score': 2.02}, {'connected_gene': 'GC16M086906', 'score': 0.37}, {'connected_gene': 'LOC105371393', 'score': 0.12}]
chr16 GH16I086618 86618588 86620031 0.71 [{'connected_gene': 'FOXL1', 'score': 29.58}, {'connected_gene': 'FOXC2', 'score': 11.45}, {'connected_gene': 'MTHFSD', 'score': 11.42}, {'connected_gene': 'ENSG00000260387', 'score': 0.37}, {'connected_gene': 'ENSG00000279142', 'score': 0.34}]
chr16 GH16I086651 86651644 86654628 0.31 [{'connected_gene': 'FOXL1', 'score': 11.7}, {'connected_gene': 'FOXC2', 'score': 11.15}, {'connected_gene': 'MTHFSD', 'score': 11.13}, {'connected_gene': 'ENSG00000261161', 'score': 5.79}, {'connected_gene': 'ENSG00000274478', 'score': 0.26}]
chr16 GH16I086608 86608085 86611844 0.99 [{'connected_gene': 'FOXL1', 'score': 32.35}, {'connected_gene': 'FOXC2', 'score': 11.09}, {'connected_gene': 'MTHFSD', 'score': 11.06}, {'connected_gene': 'ENSG00000279142', 'score': 0.39}, {'connected_gene': 'ENSG00000260387', 'score': 0.31}]
chr16 GH16I086604 86604015 86605400 0.83 [{'connected_gene': 'FOXL1', 'score': 18.74}, {'connected_gene': 'FOXC2', 'score': 11.1}, {'connected_gene': 'MTHFSD', 'score': 11.07}, {'connected_gene': 'ENSG00000279142', 'score': 0.44}, {'connected_gene': 'ENSG00000260387', 'score': 0.29}]
chr16 GH16I086491 86491396 86518866 2.38 [{'connected_gene': 'FOXF1', 'score': 567.28}, {'connected_gene': 'MTHFSD', 'score': 28.21}, {'connected_gene': 'LOC101928659', 'score': 18.22}, {'connected_gene': 'LINC00917', 'score': 11.32}, {'connected_gene': 'FOXC2', 'score': 11.25}, {'connected_gene': 'ZCCHC14', 'score': 9.69}, {'connected_gene': 'FENDRR', 'score': 6.22}, {'connected_gene': 'ENSG00000270020', 'score': 5.89}, {'connected_gene': 'LOC401864', 'score': 0.2}]
chr16 GH16I086661 86661421 86666302 1.59 [{'connected_gene': 'LOC101928659', 'score': 18.22}, {'connected_gene': 'FOXC2', 'score': 16.86}, {'connected_gene': 'MTHFSD', 'score': 11.0}, {'connected_gene': 'FOXL1', 'score': 9.1}, {'connected_gene': 'LINC02188', 'score': 6.54}, {'connected_gene': 'ENSG00000261161', 'score': 5.98}, {'connected_gene': 'GINS2', 'score': 4.9}, {'connected_gene': 'ENSG00000274478', 'score': 0.29}]
chr16 GH16I086530 86530634 86531899 0.4 [{'connected_gene': 'GC16M086531', 'score': 550.77}, {'connected_gene': 'PIR36172', 'score': 550.77}, {'connected_gene': 'MTHFSD', 'score': 46.52}, {'connected_gene': 'ENSG00000270020', 'score': 27.83}, {'connected_gene': 'FOXC2', 'score': 11.5}, {'connected_gene': 'PIR44709', 'score': 0.77}]
chr16 GH16I086557 86557568 86558557 0.38 [{'connected_gene': 'PIR60279', 'score': 550.77}, {'connected_gene': 'MTHFSD', 'score': 21.95}, {'connected_gene': 'FOXL1', 'score': 6.46}, {'connected_gene': 'FOXC2', 'score': 0.44}]
chr16 GH16I086679 86679402 86682174 1.25 [{'connected_gene': 'ENSG00000270184', 'score': 16.68}, {'connected_gene': 'MTHFSD', 'score': 14.01}, {'connected_gene': 'RNU1-103P', 'score': 12.06}, {'connected_gene': 'FOXC2', 'score': 1.62}, {'connected_gene': 'ENSG00000274478', 'score': 0.37}, {'connected_gene': 'ENSG00000261161', 'score': 0.29}]
chr16 GH16I086592 86592934 86598483 0.6 [{'connected_gene': 'ENSG00000279142', 'score': 550.77}, {'connected_gene': 'FOXC2', 'score': 11.43}, {'connected_gene': 'MTHFSD', 'score': 11.38}, {'connected_gene': 'ENSG00000270020', 'score': 7.71}, {'connected_gene': 'FOXL1', 'score': 5.33}, {'connected_gene': 'ENSG00000260387', 'score': 0.26}]
chr16 GH16I086558 86558682 86559532 0.38 [{'connected_gene': 'PIR60279', 'score': 0.77}, {'connected_gene': 'FOXC2', 'score': 0.44}]