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
ENST00000263468 [[101785745, 101786143], [101793371, 101793491], [101814995, 101815141], [101818761, 101818873], [101828898, 101829097], [101832471, 101834611], [101849077, 101849190], [101852619, 101852695], [101857562, 101857772], [101863508, 101863573], [101868329, 101871789]] [[101786015, 101786143], [101793371, 101793491], [101814995, 101815141], [101818761, 101818873], [101828898, 101829097], [101832471, 101834611], [101849077, 101849190], [101852619, 101852695], [101857562, 101857772], [101863508, 101863573], [101868329, 101868374]]
ENST00000532529 [[101815105, 101815141], [101818761, 101818873], [101826522, 101827674], [101828898, 101829097], [101832471, 101834611], [101849077, 101849190], [101852619, 101852695], [101857562, 101857772], [101863508, 101863573], [101868329, 101868759]] [[101815105, 101815141], [101818761, 101818873], [101826522, 101827672]]
ENST00000537689 [[101827157, 101827674], [101828898, 101829097], [101832471, 101834611], [101849077, 101849190], [101852619, 101852695], [101857562, 101857772], [101863508, 101863573], [101868329, 101868759]] [[101828989, 101829097], [101832471, 101834611], [101849077, 101849190], [101852619, 101852695], [101857562, 101857772], [101863508, 101863573], [101868329, 101868374]]
ENST00000532077 [[101849132, 101849190], [101852619, 101852695], [101863508, 101863573], [101868329, 101868761]] [[101849132, 101849190], [101852619, 101852695], [101863508, 101863573], [101868329, 101868374]]
NM_020802 [[101785745, 101786143], [101793371, 101793491], [101814995, 101815141], [101818761, 101818873], [101828898, 101829097], [101832471, 101834611], [101849077, 101849190], [101852619, 101852695], [101857562, 101857772], [101863508, 101863573], [101868329, 101871796]] [[101786015, 101786143], [101793371, 101793491], [101814995, 101815141], [101818761, 101818873], [101828898, 101829097], [101832471, 101834611], [101849077, 101849190], [101852619, 101852695], [101857562, 101857772], [101863508, 101863573], [101868329, 101868374]]
Promoter
Chrom Start End Description
chr11 101785727 101785767 CAGE_peak_1_at_KIAA1377_5end
chr11 101785932 101786011 CAGE_peak_2_at_KIAA1377_5end
chr11 101786057 101786069 CAGE_peak_3_at_KIAA1377_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I102010 102010061 102012905 1.22 [{'connected_gene': 'TRPC6', 'score': 10.9}, {'connected_gene': 'CEP126', 'score': 5.27}, {'connected_gene': 'ANGPTL5', 'score': 5.24}, {'connected_gene': 'GC11P102001', 'score': 0.39}, {'connected_gene': 'C11orf70', 'score': 0.28}]
chr11 GH11I101909 101909876 101909879 0.31 [{'connected_gene': 'TRPC6', 'score': 10.96}, {'connected_gene': 'CEP126', 'score': 0.44}, {'connected_gene': 'ANGPTL5', 'score': 0.44}]
chr11 GH11I101870 101870436 101871267 0.66 [{'connected_gene': 'TRPC6', 'score': 550.77}, {'connected_gene': 'CEP126', 'score': 7.45}, {'connected_gene': 'PIR36183', 'score': 0.39}]
chr11 GH11I101861 101861969 101865134 0.92 [{'connected_gene': 'CEP126', 'score': 8.32}, {'connected_gene': 'PIR36183', 'score': 0.77}, {'connected_gene': 'TRPC6', 'score': 0.44}]
chr11 GH11I101865 101865761 101868454 0.87 [{'connected_gene': 'CEP126', 'score': 8.13}, {'connected_gene': 'PIR36183', 'score': 0.44}, {'connected_gene': 'TRPC6', 'score': 0.44}]
chr11 GH11I101816 101816944 101818326 0.2 [{'connected_gene': 'CEP126', 'score': 8.36}, {'connected_gene': 'ANGPTL5', 'score': 5.0}, {'connected_gene': 'PIR35553', 'score': 0.37}, {'connected_gene': 'PIR36183', 'score': 0.26}, {'connected_gene': 'TRPC6', 'score': 0.23}]
chr11 GH11I101911 101911762 101916745 2.22 [{'connected_gene': 'ANGPTL5', 'score': 559.81}, {'connected_gene': 'CEP126', 'score': 550.77}, {'connected_gene': 'TRPC6', 'score': 10.94}]
chr11 GH11I102108 102108529 102118217 2.47 [{'connected_gene': 'YAP1', 'score': 564.82}, {'connected_gene': 'DYNC2H1', 'score': 40.51}, {'connected_gene': 'CEP126', 'score': 23.59}, {'connected_gene': 'BIRC2', 'score': 22.23}, {'connected_gene': 'PGR', 'score': 10.08}, {'connected_gene': 'ENSG00000255504', 'score': 4.52}, {'connected_gene': 'ENSG00000277459', 'score': 0.77}, {'connected_gene': 'ENSG00000260008', 'score': 0.44}, {'connected_gene': 'ENSG00000254422', 'score': 0.13}]
chr11 GH11I101860 101860830 101861039 0.59 [{'connected_gene': 'PIR36183', 'score': 550.77}, {'connected_gene': 'CEP126', 'score': 11.93}, {'connected_gene': 'TRPC6', 'score': 0.39}]