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
ENST00000322247 [[13663345, 13666712], [13671860, 13671972], [13681603, 13682104], [13697545, 13697673], [13726327, 13726559]] [[13666478, 13666712], [13671860, 13671972], [13681603, 13682076]]
ENST00000402563 [[13663349, 13666712], [13671860, 13671972], [13681603, 13682104], [13726327, 13726591]] [[13666478, 13666712], [13671860, 13671972], [13681603, 13682076]]
ENST00000585785 [[13665881, 13666712], [13726327, 13726591]] None
ENST00000588475 [[13666001, 13666712], [13681603, 13682104], [13726327, 13726504]] None
ENST00000589346 [[13666229, 13666712], [13670869, 13670967], [13671860, 13671938]] [[13666684, 13666712], [13670869, 13670967], [13671860, 13671938]]
ENST00000592976 [[13666492, 13666712], [13671860, 13671972], [13681603, 13682104], [13726327, 13726585]] [[13666492, 13666712], [13671860, 13671972], [13681603, 13682076]]
ENST00000591269 [[13671910, 13671972], [13681603, 13682104], [13687741, 13687881], [13726327, 13726662]] [[13671910, 13671972], [13681603, 13682076]]
NM_001098801 [[13663345, 13666712], [13671860, 13671972], [13681603, 13682104], [13687741, 13687881], [13726327, 13726591]] [[13666478, 13666712], [13671860, 13671972], [13681603, 13682076]]
NM_152352 [[13663345, 13666712], [13671860, 13671972], [13681603, 13682104], [13726327, 13726591]] [[13666478, 13666712], [13671860, 13671972], [13681603, 13682076]]
Promoter
Chrom Start End Description
chr18 13726426 13726439 CAGE_peak_4_at_FAM210A_5end
chr18 13726440 13726453 CAGE_peak_2_at_FAM210A_5end
chr18 13726457 13726468 CAGE_peak_3_at_FAM210A_5end
chr18 13726472 13726475 CAGE_peak_5_at_FAM210A_5end
chr18 13726510 13726598 CAGE_peak_1_at_FAM210A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I013725 13725071 13728249 2.07 [{'connected_gene': 'RNMT', 'score': 567.11}, {'connected_gene': 'FAM210A', 'score': 555.24}, {'connected_gene': 'PTPN2', 'score': 12.71}, {'connected_gene': 'CEP192', 'score': 11.99}]
chr18 GH18I013717 13717265 13717691 0.31 [{'connected_gene': 'RNMT', 'score': 16.77}, {'connected_gene': 'RN7SL362P', 'score': 0.77}, {'connected_gene': 'FAM210A', 'score': 0.44}]
chr18 GH18I013610 13610476 13617031 2.07 [{'connected_gene': 'LDLRAD4', 'score': 564.02}, {'connected_gene': 'RNMT', 'score': 3.58}, {'connected_gene': 'FAM210A', 'score': 1.77}, {'connected_gene': 'MIR4526', 'score': 0.77}, {'connected_gene': 'ENSG00000266954', 'score': 0.29}]
chr18 GH18I013579 13579202 13580595 0.83 [{'connected_gene': 'LDLRAD4', 'score': 3.78}, {'connected_gene': 'RNMT', 'score': 2.64}, {'connected_gene': 'FAM210A', 'score': 2.36}, {'connected_gene': 'ENSG00000267503', 'score': 0.39}, {'connected_gene': 'MIR4526', 'score': 0.29}]
chr18 GH18I013576 13576395 13578868 1.52 [{'connected_gene': 'LDLRAD4', 'score': 4.25}, {'connected_gene': 'RNMT', 'score': 2.44}, {'connected_gene': 'FAM210A', 'score': 2.26}, {'connected_gene': 'ENSG00000267503', 'score': 0.39}, {'connected_gene': 'MIR4526', 'score': 0.29}]
chr18 GH18I013565 13565202 13569799 1.58 [{'connected_gene': 'PSMG2', 'score': 5.14}, {'connected_gene': 'LDLRAD4', 'score': 4.81}, {'connected_gene': 'RNMT', 'score': 2.12}, {'connected_gene': 'FAM210A', 'score': 1.97}, {'connected_gene': 'ENSG00000267503', 'score': 0.77}, {'connected_gene': 'MIR4526', 'score': 0.26}]
chr18 GH18I013647 13647219 13650798 0.43 [{'connected_gene': 'FAM210A', 'score': 4.84}, {'connected_gene': 'ENSG00000266954', 'score': 0.77}, {'connected_gene': 'ENSG00000279962', 'score': 0.21}, {'connected_gene': 'LDLRAD4', 'score': 0.04}]
chr18 GH18I013700 13700640 13700699 0.5 [{'connected_gene': 'FAM210A', 'score': 550.31}, {'connected_gene': 'ENSG00000279962', 'score': 0.44}, {'connected_gene': 'ENSG00000266954', 'score': 0.23}]
chr18 GH18I013653 13653307 13655145 0.2 [{'connected_gene': 'FAM210A', 'score': 6.06}, {'connected_gene': 'ENSG00000266954', 'score': 0.44}, {'connected_gene': 'ENSG00000279962', 'score': 0.22}]
chr18 GH18I013675 13675001 13675200 0.31 [{'connected_gene': 'FAM210A', 'score': 4.41}, {'connected_gene': 'ENSG00000266954', 'score': 0.31}, {'connected_gene': 'ENSG00000279962', 'score': 0.28}]
chr18 GH18I013709 13709667 13711987 0.52 [{'connected_gene': 'ENSG00000279962', 'score': 550.77}, {'connected_gene': 'RNMT', 'score': 12.27}, {'connected_gene': 'FAM210A', 'score': 5.08}, {'connected_gene': 'RN7SL362P', 'score': 0.77}]
chr18 GH18I013562 13562026 13564808 1.5 [{'connected_gene': 'ENSG00000267503', 'score': 550.77}, {'connected_gene': 'PIR42063', 'score': 550.77}, {'connected_gene': 'LDLRAD4', 'score': 19.11}, {'connected_gene': 'PSMG2', 'score': 4.53}, {'connected_gene': 'FAM210A', 'score': 2.71}, {'connected_gene': 'RNMT', 'score': 2.35}]
chr18 GH18I013673 13673401 13673800 0.31 [{'connected_gene': 'ENSG00000266954', 'score': 0.31}, {'connected_gene': 'ENSG00000279962', 'score': 0.28}, {'connected_gene': 'FAM210A', 'score': 0.23}]