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
ENST00000462401 [[126152959, 126153048], [126160697, 126160856], [126161167, 126161464]] None
ENST00000488598 [[126152967, 126153048], [126159559, 126159728], [126160356, 126160480], [126160697, 126160856], [126161319, 126161464], [126162371, 126162582]] [[126160789, 126160856], [126161319, 126161402]]
ENST00000392679 [[126152981, 126153048], [126160356, 126160480], [126160697, 126160856], [126162371, 126162950], [126163562, 126164828]] [[126160789, 126160856], [126162371, 126162950], [126163562, 126163582]]
ENST00000467006 [[126153000, 126153048], [126158337, 126158468], [126159559, 126159728], [126160356, 126160480], [126160697, 126160792]] None
ENST00000392678 [[126153004, 126153048], [126159559, 126159728], [126160356, 126160480], [126160697, 126160856], [126162371, 126163139]] [[126160789, 126160856], [126162371, 126163012]]
ENST00000392680 [[126153012, 126153048], [126159559, 126159712], [126160356, 126160480], [126160697, 126160856], [126162371, 126162950], [126163562, 126164579]] [[126160789, 126160856], [126162371, 126162950], [126163562, 126163582]]
ENST00000479770 [[126160750, 126160856], [126162371, 126162950], [126163562, 126164534], [126168152, 126168740]] [[126160789, 126160856], [126162371, 126162950], [126163562, 126163582]]
NM_001318776 [[126152981, 126153048], [126160356, 126160480], [126160697, 126160856], [126162371, 126163071]] [[126160789, 126160856], [126162371, 126163012]]
NM_148910 [[126152981, 126153048], [126159559, 126159728], [126160356, 126160480], [126160697, 126160856], [126162371, 126163071]] [[126160789, 126160856], [126162371, 126163012]]
NM_001318777 [[126152981, 126153048], [126160356, 126160480], [126160697, 126160856], [126162371, 126162950], [126163562, 126164828]] [[126160789, 126160856], [126162371, 126162950], [126163562, 126163582]]
NM_001039661 [[126152981, 126153048], [126159559, 126159712], [126160356, 126160480], [126160697, 126160856], [126162371, 126162950], [126163562, 126164828]] [[126160789, 126160856], [126162371, 126162950], [126163562, 126163582]]
Promoter
Chrom Start End Description
chr11 126152941 126152949 CAGE_peak_3_at_TIRAP_5end
chr11 126152954 126152999 CAGE_peak_1_at_TIRAP_5end
chr11 126153001 126153014 CAGE_peak_2_at_TIRAP_5end
chr11 126153015 126153018 CAGE_peak_4_at_TIRAP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I126350 126350337 126361823 2.44 [{'connected_gene': 'ST3GAL4', 'score': 561.62}, {'connected_gene': 'GSEC', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 46.58}, {'connected_gene': 'TIRAP', 'score': 37.84}, {'connected_gene': 'STT3A', 'score': 30.19}, {'connected_gene': 'FOXRED1', 'score': 15.3}, {'connected_gene': 'DCPS', 'score': 11.91}, {'connected_gene': 'FAM118B', 'score': 9.93}, {'connected_gene': 'ENSG00000278215', 'score': 0.34}]
chr11 GH11I126399 126399433 126407664 1.34 [{'connected_gene': 'ST3GAL4', 'score': 558.72}, {'connected_gene': 'TIRAP', 'score': 12.48}, {'connected_gene': 'HP11014', 'score': 10.95}, {'connected_gene': 'FOXRED1', 'score': 6.46}, {'connected_gene': 'FAM118B', 'score': 5.65}, {'connected_gene': 'ENSG00000278215', 'score': 0.31}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.11}]
chr11 GH11I126310 126310266 126313287 1.41 [{'connected_gene': 'FOXRED1', 'score': 42.74}, {'connected_gene': 'FAM118B', 'score': 25.5}, {'connected_gene': 'DCPS', 'score': 10.57}, {'connected_gene': 'TIRAP', 'score': 5.2}, {'connected_gene': 'SRPRA', 'score': 1.54}, {'connected_gene': 'HP11014', 'score': 0.44}, {'connected_gene': 'PIR55528', 'score': 0.31}]
chr11 GH11I126266 126266902 126270172 2.04 [{'connected_gene': 'FOXRED1', 'score': 604.88}, {'connected_gene': 'SRPRA', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 32.42}, {'connected_gene': 'TIRAP', 'score': 12.75}, {'connected_gene': 'HP11014', 'score': 11.07}, {'connected_gene': 'RN7SL351P', 'score': 0.34}]
chr11 GH11I126317 126317184 126320389 1.34 [{'connected_gene': 'FOXRED1', 'score': 48.76}, {'connected_gene': 'ST3GAL4', 'score': 12.36}, {'connected_gene': 'TIRAP', 'score': 12.16}, {'connected_gene': 'ENSG00000254694', 'score': 10.88}, {'connected_gene': 'SRPRA', 'score': 10.37}, {'connected_gene': 'DCPS', 'score': 6.32}, {'connected_gene': 'FAM118B', 'score': 4.61}, {'connected_gene': 'HYLS1', 'score': 1.24}, {'connected_gene': 'HP11014', 'score': 0.39}, {'connected_gene': 'PIR55528', 'score': 0.34}]
chr11 GH11I126060 126060635 126064105 2.24 [{'connected_gene': 'CDON', 'score': 556.09}, {'connected_gene': 'TIRAP', 'score': 27.29}, {'connected_gene': 'STT3A', 'score': 25.54}, {'connected_gene': 'TMEM218', 'score': 25.1}, {'connected_gene': 'FEZ1', 'score': 11.29}, {'connected_gene': 'SRPRA', 'score': 10.12}, {'connected_gene': 'PIR48177', 'score': 0.23}]
chr11 GH11I125591 125591163 125594304 2.08 [{'connected_gene': 'STT3A', 'score': 562.43}, {'connected_gene': 'STT3A-AS1', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 38.61}, {'connected_gene': 'TMEM218', 'score': 22.92}, {'connected_gene': 'CHEK1', 'score': 22.75}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'TIRAP', 'score': 12.38}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'EI24', 'score': 11.93}, {'connected_gene': 'CDON', 'score': 10.0}, {'connected_gene': 'DDX25', 'score': 7.52}, {'connected_gene': 'FEZ1', 'score': 5.59}, {'connected_gene': 'PUS3', 'score': 4.47}]
chr11 GH11I126339 126339374 126350222 1.64 [{'connected_gene': 'DCPS', 'score': 21.02}, {'connected_gene': 'FOXRED1', 'score': 18.43}, {'connected_gene': 'TIRAP', 'score': 16.08}, {'connected_gene': 'FAM118B', 'score': 13.82}, {'connected_gene': 'STT3A', 'score': 13.33}, {'connected_gene': 'HP11014', 'score': 12.24}, {'connected_gene': 'ST3GAL4', 'score': 7.23}, {'connected_gene': 'GC11P126349', 'score': 0.77}, {'connected_gene': 'PIR55528', 'score': 0.44}, {'connected_gene': 'GSEC', 'score': 0.39}]
chr11 GH11I126083 126083837 126084886 0.69 [{'connected_gene': 'TIRAP', 'score': 6.33}, {'connected_gene': 'NAP1L1P1', 'score': 0.37}, {'connected_gene': 'ENSG00000261257', 'score': 0.37}]
chr11 GH11I126280 126280368 126284525 1.95 [{'connected_gene': 'TIRAP', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 53.11}, {'connected_gene': 'FAM118B', 'score': 42.33}, {'connected_gene': 'ENSG00000254694', 'score': 21.8}, {'connected_gene': 'DCPS', 'score': 18.95}, {'connected_gene': 'HP11014', 'score': 11.65}, {'connected_gene': 'RPUSD4', 'score': 10.74}, {'connected_gene': 'RNU4-86P', 'score': 10.04}, {'connected_gene': 'ENSG00000254905', 'score': 0.39}]
chr11 GH11I126437 126437737 126438691 0.59 [{'connected_gene': 'TIRAP', 'score': 18.47}, {'connected_gene': 'STT3A', 'score': 15.18}, {'connected_gene': 'DCPS', 'score': 11.72}, {'connected_gene': 'HP11014', 'score': 11.72}, {'connected_gene': 'ST3GAL4', 'score': 11.15}, {'connected_gene': 'SRPRA', 'score': 10.14}, {'connected_gene': 'LOC105369558', 'score': 9.33}, {'connected_gene': 'ENSG00000278215', 'score': 0.21}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.14}, {'connected_gene': 'KIRREL3', 'score': 0.03}]
chr11 GH11I126307 126307668 126309059 0.46 [{'connected_gene': 'TIRAP', 'score': 4.94}, {'connected_gene': 'DCPS', 'score': 0.77}, {'connected_gene': 'HP11014', 'score': 0.77}, {'connected_gene': 'PIR55528', 'score': 0.29}]
chr11 GH11I126284 126284848 126285155 0.74 [{'connected_gene': 'TIRAP', 'score': 0.77}, {'connected_gene': 'ENSG00000254905', 'score': 0.44}]
chr11 GH11I125624 125624374 125627766 2.11 [{'connected_gene': 'CHEK1', 'score': 562.92}, {'connected_gene': 'HP11014', 'score': 35.3}, {'connected_gene': 'TMEM218', 'score': 34.82}, {'connected_gene': 'TIRAP', 'score': 26.43}, {'connected_gene': 'MSANTD2', 'score': 21.8}, {'connected_gene': 'FEZ1', 'score': 15.73}, {'connected_gene': 'STT3A', 'score': 13.6}, {'connected_gene': 'CCDC15', 'score': 12.93}, {'connected_gene': 'ACRV1', 'score': 4.89}, {'connected_gene': 'PUS3', 'score': 4.8}, {'connected_gene': 'RNU2-35P', 'score': 0.34}]
chr11 GH11I126478 126478001 126478200 0.31 [{'connected_gene': 'HP11014', 'score': 12.15}, {'connected_gene': 'ENSG00000254905', 'score': 12.14}, {'connected_gene': 'TIRAP', 'score': 12.14}, {'connected_gene': 'FOXRED1', 'score': 9.53}, {'connected_gene': 'SRPRA', 'score': 9.53}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.2}, {'connected_gene': 'ENSG00000278215', 'score': 0.15}, {'connected_gene': 'ST3GAL4', 'score': 0.13}, {'connected_gene': 'KIRREL3', 'score': 0.03}]
chr11 GH11I126480 126480401 126481495 1.27 [{'connected_gene': 'HP11014', 'score': 12.15}, {'connected_gene': 'ENSG00000254905', 'score': 12.14}, {'connected_gene': 'TIRAP', 'score': 12.14}, {'connected_gene': 'DCPS', 'score': 11.13}, {'connected_gene': 'KIRREL3', 'score': 9.68}, {'connected_gene': 'FOXRED1', 'score': 9.52}, {'connected_gene': 'SRPRA', 'score': 9.52}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.21}, {'connected_gene': 'ENSG00000278215', 'score': 0.15}, {'connected_gene': 'ST3GAL4', 'score': 0.13}]