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
ENST00000367012 [[210406143, 210406356], [210411288, 210411480], [210412837, 210412953], [210414902, 210419600]] [[210411305, 210411480], [210412837, 210412953], [210414902, 210415682]]
ENST00000490620 [[210410626, 210410813], [210411288, 210411480], [210412837, 210412953], [210414902, 210415510]] None
ENST00000482421 [[210411287, 210411480], [210412837, 210412953], [210419144, 210419272], [210419916, 210419973]] None
ENST00000483884 [[210411322, 210411480], [210419112, 210419272], [210419916, 210419976]] None
NM_019605 [[210406194, 210406356], [210411288, 210411480], [210412837, 210412953], [210414902, 210416460]] [[210411305, 210411480], [210412837, 210412953], [210414902, 210415682]]
Promoter
Chrom Start End Description
chr1 210406014 210406041 CAGE_peak_5_at_SERTAD4_5end
chr1 210406121 210406162 CAGE_peak_1_at_SERTAD4_5end
chr1 210406165 210406186 CAGE_peak_4_at_SERTAD4_5end
chr1 210406223 210406234 CAGE_peak_6_at_SERTAD4_5end
chr1 210410624 210410632 CAGE_peak_3_at_SERTAD4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I210213 210213192 210213475 0.44 [{'connected_gene': 'SERTAD4-AS1', 'score': 11.51}, {'connected_gene': 'TRAF3IP3', 'score': 5.61}, {'connected_gene': 'SERTAD4', 'score': 0.37}, {'connected_gene': 'SYT14', 'score': 0.06}]
chr1 GH01I210342 210342977 210344200 1.03 [{'connected_gene': 'SERTAD4-AS1', 'score': 16.88}, {'connected_gene': 'TRAF3IP3', 'score': 12.94}, {'connected_gene': 'RCOR3', 'score': 11.99}, {'connected_gene': 'RNU5A-8P', 'score': 11.87}, {'connected_gene': 'SERTAD4', 'score': 10.86}, {'connected_gene': 'HHAT', 'score': 8.67}, {'connected_gene': 'PIR50724', 'score': 0.34}]
chr1 GH01I210259 210259871 210263913 0.96 [{'connected_gene': 'SERTAD4-AS1', 'score': 17.34}, {'connected_gene': 'SERTAD4', 'score': 11.21}, {'connected_gene': 'TRAF3IP3', 'score': 9.98}, {'connected_gene': 'IRF6', 'score': 4.78}, {'connected_gene': 'ST13P19', 'score': 0.44}, {'connected_gene': 'GC01P210243', 'score': 0.37}]
chr1 GH01I210232 210232176 210234925 1.9 [{'connected_gene': 'SERTAD4-AS1', 'score': 562.1}, {'connected_gene': 'SERTAD4', 'score': 550.77}, {'connected_gene': 'TRAF3IP3', 'score': 6.25}]
chr1 GH01I210392 210392938 210395470 1.28 [{'connected_gene': 'SERTAD4-AS1', 'score': 5.3}, {'connected_gene': 'SERTAD4', 'score': 4.8}, {'connected_gene': 'HHAT', 'score': 4.66}, {'connected_gene': 'SYT14', 'score': 1.76}, {'connected_gene': 'RNU5A-8P', 'score': 0.37}, {'connected_gene': 'GC01M210375', 'score': 0.37}, {'connected_gene': 'LOC100421537', 'score': 0.2}]
chr1 GH01I210222 210222396 210223663 0.66 [{'connected_gene': 'SERTAD4-AS1', 'score': 9.05}, {'connected_gene': 'SERTAD4', 'score': 0.44}, {'connected_gene': 'SYT14', 'score': 0.06}]
chr1 GH01I210399 210399577 210399706 0.57 [{'connected_gene': 'SERTAD4-AS1', 'score': 5.87}, {'connected_gene': 'SERTAD4', 'score': 4.22}, {'connected_gene': 'RNU5A-8P', 'score': 0.31}, {'connected_gene': 'GC01M210375', 'score': 0.31}, {'connected_gene': 'LOC100421537', 'score': 0.21}, {'connected_gene': 'HHAT', 'score': 0.19}]
chr1 GH01I210271 210271795 210273488 0.49 [{'connected_gene': 'SERTAD4-AS1', 'score': 11.08}, {'connected_gene': 'SERTAD4', 'score': 11.08}, {'connected_gene': 'ST13P19', 'score': 0.44}, {'connected_gene': 'GC01P210292', 'score': 0.37}]
chr1 GH01I210260 210259576 210259805 0.43 [{'connected_gene': 'SERTAD4-AS1', 'score': 19.68}, {'connected_gene': 'SERTAD4', 'score': 11.21}, {'connected_gene': 'ST13P19', 'score': 0.44}, {'connected_gene': 'GC01P210243', 'score': 0.37}]
chr1 GH01I210239 210239087 210240816 0.97 [{'connected_gene': 'SERTAD4-AS1', 'score': 11.49}, {'connected_gene': 'GC01P210243', 'score': 0.77}, {'connected_gene': 'SERTAD4', 'score': 0.44}]
chr1 GH01I210331 210331804 210333546 1.02 [{'connected_gene': 'SERTAD4-AS1', 'score': 15.67}, {'connected_gene': 'HHAT', 'score': 10.06}, {'connected_gene': 'SERTAD4', 'score': 9.82}, {'connected_gene': 'PIR50724', 'score': 0.29}]
chr1 GH01I211197 211197884 211199197 0.38 [{'connected_gene': 'SERTAD4', 'score': 5.45}, {'connected_gene': 'ENSG00000284376', 'score': 0.44}, {'connected_gene': 'LOC388734', 'score': 0.44}, {'connected_gene': 'ENSG00000283952', 'score': 0.39}]
chr1 GH01I210328 210328025 210329866 1.93 [{'connected_gene': 'HHAT', 'score': 557.48}, {'connected_gene': 'SERTAD4-AS1', 'score': 15.65}, {'connected_gene': 'RCOR3', 'score': 9.97}, {'connected_gene': 'SERTAD4', 'score': 9.82}, {'connected_gene': 'PIR50724', 'score': 0.28}]
chr1 GH01I210236 210236263 210238442 1.12 [{'connected_gene': 'HHAT', 'score': 11.18}, {'connected_gene': 'DIEXF', 'score': 10.74}, {'connected_gene': 'SERTAD4-AS1', 'score': 0.77}, {'connected_gene': 'SERTAD4', 'score': 0.77}, {'connected_gene': 'GC01P210243', 'score': 0.44}]
chr1 GH01I210012 210012694 210013000 0.22 [{'connected_gene': 'SYT14', 'score': 1.34}, {'connected_gene': 'SERTAD4', 'score': 0.08}]
chr1 GH01I210371 210371982 210375342 1.28 [{'connected_gene': 'RNU5A-8P', 'score': 550.77}, {'connected_gene': 'GC01M210375', 'score': 550.77}, {'connected_gene': 'RCOR3', 'score': 39.77}, {'connected_gene': 'SERTAD4-AS1', 'score': 14.9}, {'connected_gene': 'SERTAD4', 'score': 13.77}, {'connected_gene': 'ST13P19', 'score': 11.49}, {'connected_gene': 'DIEXF', 'score': 11.07}, {'connected_gene': 'HHAT', 'score': 4.4}, {'connected_gene': 'PIR50724', 'score': 0.44}]
chr1 GH01I210264 210264242 210266244 0.59 [{'connected_gene': 'ST13P19', 'score': 550.77}, {'connected_gene': 'SERTAD4-AS1', 'score': 11.19}, {'connected_gene': 'SERTAD4', 'score': 11.19}, {'connected_gene': 'TRAF3IP3', 'score': 9.93}, {'connected_gene': 'GC01P210243', 'score': 0.34}]