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
ENST00000360221 [[41102542, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131680], [41131921, 41132020]] [[41102609, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131634]]
ENST00000409399 [[41102546, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131680], [41132062, 41132292], [41132382, 41132507]] [[41102609, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131680], [41132062, 41132199]]
ENST00000409103 [[41102562, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41131186, 41131285], [41131394, 41131461], [41131566, 41131680], [41131921, 41132010]] [[41102609, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41131186, 41131285], [41131394, 41131461], [41131566, 41131634]]
ENST00000421990 [[41102566, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131680], [41132062, 41132545]] [[41102609, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131680], [41132062, 41132199]]
ENST00000423601 [[41106967, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108521], [41131644, 41131702], [41132062, 41132155]] [[41108512, 41108521], [41131644, 41131702], [41132062, 41132155]]
ENST00000452752 [[41113280, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131644, 41131680]] [[41113280, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131644, 41131680]]
ENST00000454303 [[41116235, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131790], [41132062, 41132103]] [[41116235, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131634]]
NM_025267 [[41102542, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131680], [41131921, 41132020]] [[41102609, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131634]]
NM_001136042 [[41102542, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131680], [41132062, 41132545]] [[41102609, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41122305, 41122359], [41123623, 41123713], [41131186, 41131285], [41131394, 41131461], [41131566, 41131680], [41132062, 41132199]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I042832 42832071 42835211 2.1 [{'connected_gene': 'BECN1', 'score': 550.77}, {'connected_gene': 'PSME3', 'score': 550.44}, {'connected_gene': 'NKIRAS2', 'score': 15.45}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'ENSG00000212149', 'score': 12.19}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.89}, {'connected_gene': 'RPL27', 'score': 11.88}, {'connected_gene': 'CNTD1', 'score': 11.6}, {'connected_gene': 'COA3', 'score': 11.6}, {'connected_gene': 'STAT3', 'score': 10.52}, {'connected_gene': 'LOC108783654', 'score': 9.75}, {'connected_gene': 'RETREG3', 'score': 9.7}, {'connected_gene': 'AOC4P', 'score': 6.29}, {'connected_gene': 'AOC2', 'score': 0.39}]
chr17 GH17I042963 42963446 42965776 2.02 [{'connected_gene': 'AARSD1', 'score': 550.77}, {'connected_gene': 'NKIRAS2', 'score': 15.45}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'CD300LG', 'score': 10.55}, {'connected_gene': 'STAT3', 'score': 10.5}, {'connected_gene': 'RPL27', 'score': 8.2}, {'connected_gene': 'GC17M042976', 'score': 0.39}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 0.37}]
chr17 GH17I043040 43040332 43040899 0.72 [{'connected_gene': 'IFI35', 'score': 12.13}, {'connected_gene': 'RPL27', 'score': 12.09}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.31}, {'connected_gene': 'CNTD1', 'score': 9.53}, {'connected_gene': 'COA3', 'score': 9.53}, {'connected_gene': 'GC17P043420', 'score': 0.39}, {'connected_gene': 'RPL21P4', 'score': 0.28}]
chr17 GH17I042584 42584915 42585632 0.4 [{'connected_gene': 'TUBG2', 'score': 32.5}, {'connected_gene': 'TUBG1', 'score': 11.74}, {'connected_gene': 'RETREG3', 'score': 11.71}, {'connected_gene': 'AARSD1', 'score': 10.32}, {'connected_gene': 'RUNDC1', 'score': 10.32}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.32}, {'connected_gene': 'CNTD1', 'score': 10.05}, {'connected_gene': 'COA3', 'score': 10.05}, {'connected_gene': 'PIR42459', 'score': 0.77}, {'connected_gene': 'ENSG00000280183', 'score': 0.39}]
chr17 GH17I042586 42586256 42588262 0.49 [{'connected_gene': 'TUBG2', 'score': 33.35}, {'connected_gene': 'TUBG1', 'score': 11.74}, {'connected_gene': 'RETREG3', 'score': 11.74}, {'connected_gene': 'AARSD1', 'score': 10.32}, {'connected_gene': 'RUNDC1', 'score': 10.32}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.32}, {'connected_gene': 'CNTD1', 'score': 10.05}, {'connected_gene': 'COA3', 'score': 10.05}, {'connected_gene': 'PIR42459', 'score': 0.44}, {'connected_gene': 'ENSG00000280183', 'score': 0.39}]
chr17 GH17I042982 42982093 42982473 0.46 [{'connected_gene': 'RUNDC1', 'score': 550.77}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 550.77}, {'connected_gene': 'PTGES3L', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 21.29}, {'connected_gene': 'IFI35', 'score': 5.73}, {'connected_gene': 'PIR51537', 'score': 0.44}]
chr17 GH17I042823 42823221 42824933 2.04 [{'connected_gene': 'MIR6781', 'score': 550.77}, {'connected_gene': 'PSME3', 'score': 550.77}, {'connected_gene': 'BECN1', 'score': 550.44}, {'connected_gene': 'CNTD1', 'score': 11.97}, {'connected_gene': 'COA3', 'score': 11.97}, {'connected_gene': 'AOC2', 'score': 11.76}, {'connected_gene': 'AOC3', 'score': 11.73}, {'connected_gene': 'VPS25', 'score': 11.55}, {'connected_gene': 'RAMP2-AS1', 'score': 11.53}, {'connected_gene': 'RAMP2', 'score': 11.52}, {'connected_gene': 'HMGN2P15', 'score': 11.51}, {'connected_gene': 'WNK4', 'score': 11.41}, {'connected_gene': 'AARSD1', 'score': 11.15}, {'connected_gene': 'RUNDC1', 'score': 11.14}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.14}]
chr17 GH17I042984 42984002 42986400 0.86 [{'connected_gene': 'NBR2', 'score': 21.64}, {'connected_gene': 'RPL27', 'score': 8.61}, {'connected_gene': 'TUBG2', 'score': 5.06}, {'connected_gene': 'RUNDC1', 'score': 0.77}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 0.77}, {'connected_gene': 'PTGES3L', 'score': 0.77}, {'connected_gene': 'PIR51537', 'score': 0.44}]
chr17 GH17I042953 42953310 42954460 0.49 [{'connected_gene': 'NBR2', 'score': 25.28}, {'connected_gene': 'RPL27', 'score': 20.12}, {'connected_gene': 'RUNDC1', 'score': 12.65}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 12.65}, {'connected_gene': 'AOC3', 'score': 11.75}, {'connected_gene': 'AOC2', 'score': 11.75}, {'connected_gene': 'CNTD1', 'score': 10.64}, {'connected_gene': 'COA3', 'score': 10.64}, {'connected_gene': 'IFI35', 'score': 5.59}, {'connected_gene': 'GC17P043418', 'score': 0.77}, {'connected_gene': 'AARSD1', 'score': 0.39}]
chr17 GH17I043041 43041451 43042773 0.69 [{'connected_gene': 'NBR2', 'score': 49.57}, {'connected_gene': 'IFI35', 'score': 11.69}, {'connected_gene': 'RPL27', 'score': 11.67}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.28}, {'connected_gene': 'CNTD1', 'score': 9.51}, {'connected_gene': 'COA3', 'score': 9.51}, {'connected_gene': 'GC17P043420', 'score': 0.39}, {'connected_gene': 'RPL21P4', 'score': 0.28}]
chr17 GH17I043010 43010125 43012345 1.41 [{'connected_gene': 'NBR2', 'score': 21.31}, {'connected_gene': 'RUNDC1', 'score': 11.8}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.8}, {'connected_gene': 'AARSD1', 'score': 11.76}, {'connected_gene': 'MLX', 'score': 9.26}, {'connected_gene': 'CNTD1', 'score': 8.84}, {'connected_gene': 'RPL29P31', 'score': 5.58}, {'connected_gene': 'NBR1', 'score': 5.29}, {'connected_gene': 'ETV4', 'score': 1.37}, {'connected_gene': 'TUBG1', 'score': 1.35}, {'connected_gene': 'IFI35', 'score': 0.77}, {'connected_gene': 'VAT1', 'score': 0.39}]
chr17 GH17I043014 43014025 43016590 0.63 [{'connected_gene': 'NBR2', 'score': 24.93}, {'connected_gene': 'RUNDC1', 'score': 11.8}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.8}, {'connected_gene': 'AARSD1', 'score': 11.74}, {'connected_gene': 'IFI35', 'score': 5.93}, {'connected_gene': 'VAT1', 'score': 0.44}]
chr17 GH17I042979 42979100 42982024 2.04 [{'connected_gene': 'PTGES3L', 'score': 555.42}, {'connected_gene': 'RUNDC1', 'score': 550.77}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 550.77}, {'connected_gene': 'HMGN2P15', 'score': 10.22}, {'connected_gene': 'RPL27', 'score': 8.26}, {'connected_gene': 'IFI35', 'score': 6.26}, {'connected_gene': 'AARSD1', 'score': 4.88}, {'connected_gene': 'PIR51537', 'score': 0.39}]
chr17 GH17I042576 42576074 42580294 2.09 [{'connected_gene': 'GC17P042577', 'score': 550.77}, {'connected_gene': 'GC17P042580', 'score': 550.77}, {'connected_gene': 'PSMC3IP', 'score': 550.77}, {'connected_gene': 'DHX8', 'score': 47.64}, {'connected_gene': 'HMGN1P29', 'score': 41.74}, {'connected_gene': 'ENSG00000267758', 'score': 38.18}, {'connected_gene': 'TUBG2', 'score': 32.02}, {'connected_gene': 'NBR2', 'score': 26.13}, {'connected_gene': 'MLX', 'score': 24.12}, {'connected_gene': 'STAT5A', 'score': 21.97}, {'connected_gene': 'LINC00910', 'score': 21.48}, {'connected_gene': 'CNTNAP1', 'score': 21.16}, {'connected_gene': 'CNTD1', 'score': 20.29}, {'connected_gene': 'KLHL10', 'score': 15.57}, {'connected_gene': 'NAGLU', 'score': 15.08}, {'connected_gene': 'COASY', 'score': 13.89}, {'connected_gene': 'TUBG1', 'score': 11.69}, {'connected_gene': 'RETREG3', 'score': 11.69}, {'connected_gene': 'LINC00854', 'score': 11.68}, {'connected_gene': 'GHDC', 'score': 11.47}, {'connected_gene': 'DHX58', 'score': 11.43}, {'connected_gene': 'NBR1', 'score': 11.22}, {'connected_gene': 'KLHL11', 'score': 10.85}, {'connected_gene': 'AARSD1', 'score': 10.32}, {'connected_gene': 'RUNDC1', 'score': 10.32}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.32}, {'connected_gene': 'CAVIN1', 'score': 10.29}, {'connected_gene': 'PSME3', 'score': 10.28}, {'connected_gene': 'LOC108783654', 'score': 10.28}, {'connected_gene': 'VPS25', 'score': 10.21}, {'connected_gene': 'COA3', 'score': 10.05}, {'connected_gene': 'LINC00671', 'score': 5.5}]
chr17 GH17I042596 42596925 42597208 0.34 [{'connected_gene': 'ENSG00000280183', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 11.58}, {'connected_gene': 'HMGN2P15', 'score': 11.05}, {'connected_gene': 'RAMP2-AS1', 'score': 11.04}, {'connected_gene': 'RAMP2', 'score': 11.04}, {'connected_gene': 'VPS25', 'score': 11.04}, {'connected_gene': 'WNK4', 'score': 10.28}, {'connected_gene': 'AARSD1', 'score': 10.21}, {'connected_gene': 'RUNDC1', 'score': 10.21}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.21}, {'connected_gene': 'CNTD1', 'score': 10.14}, {'connected_gene': 'COA3', 'score': 10.14}, {'connected_gene': 'RNU7-97P', 'score': 9.68}, {'connected_gene': 'NAGLU', 'score': 5.79}, {'connected_gene': 'STAT5B', 'score': 2.99}, {'connected_gene': 'STAT3', 'score': 2.25}, {'connected_gene': 'RETREG3', 'score': 0.39}, {'connected_gene': 'PIR42459', 'score': 0.37}]
chr17 GH17I043079 43079182 43081835 0.65 [{'connected_gene': 'GC17P043421', 'score': 550.77}, {'connected_gene': 'RPL21P4', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 83.74}, {'connected_gene': 'VAT1', 'score': 11.88}, {'connected_gene': 'RND2', 'score': 11.88}, {'connected_gene': 'RPL27', 'score': 11.42}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.4}, {'connected_gene': 'PSMC3IP', 'score': 4.28}, {'connected_gene': 'BRCA1', 'score': 3.11}, {'connected_gene': 'GC17P043556', 'score': 0.44}]
chr17 GH17I042988 42988640 42991915 0.64 [{'connected_gene': 'PIR53885', 'score': 550.77}, {'connected_gene': 'PIR51537', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 24.54}, {'connected_gene': 'RPL27', 'score': 8.34}, {'connected_gene': 'RUNDC1', 'score': 0.44}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 0.44}, {'connected_gene': 'PTGES3L', 'score': 0.44}]

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