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
ENST00000305533 [[52262625, 52263217], [52263676, 52263798], [52263935, 52264086], [52264885, 52265011], [52265142, 52265247], [52265459, 52265555], [52265959, 52266138], [52269044, 52269122], [52273007, 52273276]] [[52263049, 52263217], [52263676, 52263798], [52263935, 52264086], [52264885, 52265011], [52265142, 52265247], [52265459, 52265555], [52265959, 52266138], [52269044, 52269122], [52273007, 52273032]]
ENST00000499914 [[52262663, 52263217], [52263935, 52264086], [52264885, 52265011], [52265142, 52265247], [52265459, 52265555], [52265959, 52266138], [52269044, 52269122], [52273007, 52273158]] [[52263212, 52263217], [52263935, 52264086], [52264885, 52265011], [52265142, 52265247], [52265459, 52265555], [52265959, 52266138], [52269044, 52269122], [52273007, 52273032]]
ENST00000472755 [[52264913, 52265011], [52265142, 52265247], [52265459, 52265555], [52265959, 52266244]] None
NM_007284 [[52262625, 52263217], [52263676, 52263798], [52263935, 52264086], [52264885, 52265011], [52265142, 52265247], [52265459, 52265555], [52265959, 52266138], [52269044, 52269122], [52273007, 52273183]] [[52263049, 52263217], [52263676, 52263798], [52263935, 52264086], [52264885, 52265011], [52265142, 52265247], [52265459, 52265555], [52265959, 52266138], [52269044, 52269122], [52273007, 52273032]]
Promoter
Chrom Start End Description
chr3 52273098 52273181 CAGE_peak_1_at_TWF2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I052385 52385285 52385454 0.67 [{'connected_gene': 'BAP1', 'score': 12.71}, {'connected_gene': 'PHF7', 'score': 12.68}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.18}, {'connected_gene': 'LOC101929054', 'score': 11.18}, {'connected_gene': 'TWF2', 'score': 11.18}, {'connected_gene': 'ENSG00000173366', 'score': 11.18}, {'connected_gene': 'MIR135A1', 'score': 11.18}, {'connected_gene': 'TLR9', 'score': 11.18}, {'connected_gene': 'WDR82', 'score': 11.17}, {'connected_gene': 'GLYCTK', 'score': 11.17}, {'connected_gene': 'SEMA3G', 'score': 10.71}, {'connected_gene': 'PPM1M', 'score': 10.39}, {'connected_gene': 'PPP2R5CP', 'score': 0.39}, {'connected_gene': 'PIR54826', 'score': 0.34}, {'connected_gene': 'DNAH1', 'score': 0.2}]
chr3 GH03I052168 52167524 52167694 0.31 [{'connected_gene': 'TLR9', 'score': 10.71}, {'connected_gene': 'ENSG00000173366', 'score': 10.7}, {'connected_gene': 'LOC101929054', 'score': 10.68}, {'connected_gene': 'TWF2', 'score': 10.68}, {'connected_gene': 'WDR82', 'score': 10.54}, {'connected_gene': 'DUSP7', 'score': 10.22}, {'connected_gene': 'POC1A', 'score': 0.39}, {'connected_gene': 'ALDOAP1', 'score': 0.31}]
chr3 GH03I052167 52167245 52167434 0.43 [{'connected_gene': 'TLR9', 'score': 10.71}, {'connected_gene': 'ENSG00000173366', 'score': 10.7}, {'connected_gene': 'LOC101929054', 'score': 10.68}, {'connected_gene': 'TWF2', 'score': 10.68}, {'connected_gene': 'WDR82', 'score': 10.54}, {'connected_gene': 'DUSP7', 'score': 10.22}, {'connected_gene': 'POC1A', 'score': 0.39}, {'connected_gene': 'ALDOAP1', 'score': 0.31}]
chr3 GH03I052202 52201428 52203740 0.83 [{'connected_gene': 'TLR9', 'score': 12.44}, {'connected_gene': 'ENSG00000173366', 'score': 12.41}, {'connected_gene': 'LOC101929054', 'score': 12.38}, {'connected_gene': 'TWF2', 'score': 12.38}, {'connected_gene': 'GLYCTK', 'score': 11.0}, {'connected_gene': 'WDR82', 'score': 11.0}, {'connected_gene': 'MIR135A1', 'score': 10.99}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.98}, {'connected_gene': 'NT5DC2', 'score': 10.59}, {'connected_gene': 'DUSP7', 'score': 10.44}, {'connected_gene': 'PIR51375', 'score': 0.77}, {'connected_gene': 'GC03P052204', 'score': 0.77}, {'connected_gene': 'ALAS1', 'score': 0.77}]
chr3 GH03I052171 52171318 52172139 0.97 [{'connected_gene': 'TLR9', 'score': 10.46}, {'connected_gene': 'ENSG00000173366', 'score': 10.45}, {'connected_gene': 'LOC101929054', 'score': 10.43}, {'connected_gene': 'TWF2', 'score': 10.43}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.26}, {'connected_gene': 'MIR135A1', 'score': 10.25}, {'connected_gene': 'PCBP4', 'score': 10.15}, {'connected_gene': 'WDR82', 'score': 9.66}, {'connected_gene': 'GLYCTK', 'score': 9.66}, {'connected_gene': 'GPR62', 'score': 9.47}, {'connected_gene': 'POC1A', 'score': 0.37}, {'connected_gene': 'ALDOAP1', 'score': 0.34}]
chr3 GH03I052234 52233877 52236124 0.57 [{'connected_gene': 'ITIH4', 'score': 15.75}, {'connected_gene': 'PPM1M', 'score': 15.0}, {'connected_gene': 'NT5DC2', 'score': 7.51}, {'connected_gene': 'RFT1', 'score': 4.41}, {'connected_gene': 'LOC101929054', 'score': 0.77}, {'connected_gene': 'ENSG00000173366', 'score': 0.77}, {'connected_gene': 'TWF2', 'score': 0.77}]
chr3 GH03I052497 52497745 52499409 1.07 [{'connected_gene': 'ITIH4', 'score': 18.1}, {'connected_gene': 'NISCH', 'score': 6.81}, {'connected_gene': 'NEK4', 'score': 4.84}, {'connected_gene': 'STAB1', 'score': 3.0}, {'connected_gene': 'WDR82', 'score': 2.45}, {'connected_gene': 'TWF2', 'score': 2.28}, {'connected_gene': 'PBRM1', 'score': 2.2}, {'connected_gene': 'GLYCTK', 'score': 2.12}, {'connected_gene': 'PPM1M', 'score': 1.94}, {'connected_gene': 'PIR41495', 'score': 0.31}]
chr3 GH03I052339 52339600 52340001 1.08 [{'connected_gene': 'DNAH1', 'score': 12.44}, {'connected_gene': 'GLYCTK-AS1', 'score': 12.19}, {'connected_gene': 'MIR135A1', 'score': 12.17}, {'connected_gene': 'WDR82', 'score': 12.16}, {'connected_gene': 'GLYCTK', 'score': 12.16}, {'connected_gene': 'LOC101929054', 'score': 11.64}, {'connected_gene': 'TWF2', 'score': 11.64}, {'connected_gene': 'ENSG00000173366', 'score': 11.63}, {'connected_gene': 'TLR9', 'score': 11.62}, {'connected_gene': 'PPM1M', 'score': 11.38}, {'connected_gene': 'SEMA3G', 'score': 10.6}, {'connected_gene': 'PPP2R5CP', 'score': 0.29}]
chr3 GH03I052183 52183705 52185130 0.38 [{'connected_gene': 'POC1A', 'score': 12.51}, {'connected_gene': 'DUSP7', 'score': 10.42}, {'connected_gene': 'WDR82', 'score': 10.39}, {'connected_gene': 'GLYCTK', 'score': 10.39}, {'connected_gene': 'MIR135A1', 'score': 10.38}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.38}, {'connected_gene': 'PCBP4', 'score': 10.25}, {'connected_gene': 'GPR62', 'score': 9.99}, {'connected_gene': 'TWF2', 'score': 7.39}, {'connected_gene': 'ALDOAP1', 'score': 0.44}]
chr3 GH03I052044 52044628 52058616 2.78 [{'connected_gene': 'DUSP7', 'score': 561.07}, {'connected_gene': 'DCAF1', 'score': 24.9}, {'connected_gene': 'GPR62', 'score': 23.38}, {'connected_gene': 'RAD54L2', 'score': 19.36}, {'connected_gene': 'PHF7', 'score': 14.38}, {'connected_gene': 'NT5DC2', 'score': 13.65}, {'connected_gene': 'RPL29', 'score': 12.2}, {'connected_gene': 'PCBP4', 'score': 10.99}, {'connected_gene': 'WDR82', 'score': 10.3}, {'connected_gene': 'SFMBT1', 'score': 10.08}, {'connected_gene': 'NISCH', 'score': 9.77}, {'connected_gene': 'TWF2', 'score': 1.92}, {'connected_gene': 'ACY1', 'score': 1.61}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I052243 52243437 52248334 2.45 [{'connected_gene': 'PPM1M', 'score': 568.16}, {'connected_gene': 'PBRM1', 'score': 18.78}, {'connected_gene': 'LOC101929054', 'score': 16.73}, {'connected_gene': 'GLYCTK', 'score': 16.24}, {'connected_gene': 'IQCF2', 'score': 14.8}, {'connected_gene': 'IQCF5', 'score': 14.46}, {'connected_gene': 'PHF7', 'score': 14.39}, {'connected_gene': 'IQCF6', 'score': 13.91}, {'connected_gene': 'IQCF1', 'score': 13.7}, {'connected_gene': 'WDR82', 'score': 13.64}, {'connected_gene': 'MIR135A1', 'score': 11.7}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.69}, {'connected_gene': 'MUSTN1', 'score': 4.88}, {'connected_gene': 'RPL29', 'score': 4.6}, {'connected_gene': 'GLT8D1', 'score': 1.88}, {'connected_gene': 'DNAH1', 'score': 1.81}, {'connected_gene': 'TWF2', 'score': 1.7}, {'connected_gene': 'GC03M052258', 'score': 0.39}, {'connected_gene': 'GC03M052257', 'score': 0.39}, {'connected_gene': 'PIR61179', 'score': 0.39}]
chr3 GH03I052274 52274220 52291489 2.5 [{'connected_gene': 'GLYCTK', 'score': 568.52}, {'connected_gene': 'WDR82', 'score': 550.44}, {'connected_gene': 'LOC101929054', 'score': 28.2}, {'connected_gene': 'PPM1M', 'score': 28.18}, {'connected_gene': 'TWF2', 'score': 23.58}, {'connected_gene': 'ITIH4', 'score': 20.35}, {'connected_gene': 'PBRM1', 'score': 19.2}, {'connected_gene': 'ENSG00000173366', 'score': 11.39}, {'connected_gene': 'TLR9', 'score': 11.37}, {'connected_gene': 'SEMA3G', 'score': 10.74}, {'connected_gene': 'NT5DC2', 'score': 8.65}, {'connected_gene': 'RPL29', 'score': 4.61}, {'connected_gene': 'ITIH3', 'score': 4.47}, {'connected_gene': 'RFT1', 'score': 4.37}, {'connected_gene': 'NEK4', 'score': 4.18}, {'connected_gene': 'GC03P052278', 'score': 0.77}, {'connected_gene': 'GC03M052276', 'score': 0.44}, {'connected_gene': 'GC03M052275', 'score': 0.44}, {'connected_gene': 'GLYCTK-AS1', 'score': 0.37}]
chr3 GH03I052201 52201094 52201275 0.27 [{'connected_gene': 'GLYCTK', 'score': 12.77}, {'connected_gene': 'TLR9', 'score': 11.97}, {'connected_gene': 'ENSG00000173366', 'score': 11.92}, {'connected_gene': 'LOC101929054', 'score': 11.91}, {'connected_gene': 'TWF2', 'score': 11.91}, {'connected_gene': 'WDR82', 'score': 10.75}, {'connected_gene': 'MIR135A1', 'score': 10.35}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.35}, {'connected_gene': 'PBRM1', 'score': 1.82}, {'connected_gene': 'DNAH1', 'score': 1.45}, {'connected_gene': 'PIR51375', 'score': 0.77}, {'connected_gene': 'GC03P052204', 'score': 0.77}, {'connected_gene': 'ALAS1', 'score': 0.77}]
chr3 GH03I052265 52265485 52265634 0.72 [{'connected_gene': 'TWF2', 'score': 12.65}, {'connected_gene': 'MIRLET7G', 'score': 0.77}, {'connected_gene': 'PIR44903', 'score': 0.44}, {'connected_gene': 'WDR82', 'score': 0.34}]
chr3 GH03I052236 52236187 52241390 2.51 [{'connected_gene': 'LOC101929054', 'score': 567.28}, {'connected_gene': 'TWF2', 'score': 552.75}, {'connected_gene': 'GLYCTK', 'score': 30.07}, {'connected_gene': 'RAD54L2', 'score': 26.53}, {'connected_gene': 'PBRM1', 'score': 25.12}, {'connected_gene': 'RRP9', 'score': 20.38}, {'connected_gene': 'WDR82', 'score': 14.44}, {'connected_gene': 'RFT1', 'score': 12.39}, {'connected_gene': 'MIR135A1', 'score': 11.4}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.39}, {'connected_gene': 'ABHD14B', 'score': 10.42}, {'connected_gene': 'PPM1M', 'score': 2.27}, {'connected_gene': 'ENSG00000173366', 'score': 0.44}]
chr3 GH03I052298 52298201 52301103 1.34 [{'connected_gene': 'GLYCTK-AS1', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 19.26}, {'connected_gene': 'GLYCTK', 'score': 18.49}, {'connected_gene': 'PPM1M', 'score': 16.5}, {'connected_gene': 'RFT1', 'score': 13.51}, {'connected_gene': 'RRP9', 'score': 13.07}, {'connected_gene': 'TWF2', 'score': 6.4}, {'connected_gene': 'DNAH1', 'score': 0.37}]
chr3 GH03I052231 52231300 52232255 0.76 [{'connected_gene': 'ENSG00000173366', 'score': 550.77}, {'connected_gene': 'NEK4', 'score': 4.82}, {'connected_gene': 'RFT1', 'score': 4.49}, {'connected_gene': 'LOC101929054', 'score': 0.44}, {'connected_gene': 'TWF2', 'score': 0.44}]
chr3 GH03I052205 52205081 52205429 0.2 [{'connected_gene': 'PIR51375', 'score': 550.77}, {'connected_gene': 'GC03P052204', 'score': 550.77}, {'connected_gene': 'TLR9', 'score': 13.08}, {'connected_gene': 'ENSG00000173366', 'score': 13.05}, {'connected_gene': 'LOC101929054', 'score': 13.03}, {'connected_gene': 'TWF2', 'score': 13.03}, {'connected_gene': 'WDR82', 'score': 11.39}, {'connected_gene': 'PPM1M', 'score': 11.24}, {'connected_gene': 'GLYCTK', 'score': 11.12}, {'connected_gene': 'MIR135A1', 'score': 11.11}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.1}, {'connected_gene': 'DUSP7', 'score': 10.41}, {'connected_gene': 'ALAS1', 'score': 0.44}, {'connected_gene': 'ENSG00000280003', 'score': 0.39}]
chr3 GH03I052204 52204109 52204624 0.65 [{'connected_gene': 'PIR51375', 'score': 550.77}, {'connected_gene': 'GC03P052204', 'score': 550.77}, {'connected_gene': 'TLR9', 'score': 12.44}, {'connected_gene': 'ENSG00000173366', 'score': 12.41}, {'connected_gene': 'LOC101929054', 'score': 12.4}, {'connected_gene': 'TWF2', 'score': 12.4}, {'connected_gene': 'WDR82', 'score': 11.01}, {'connected_gene': 'GLYCTK', 'score': 11.0}, {'connected_gene': 'MIR135A1', 'score': 11.0}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.99}, {'connected_gene': 'DUSP7', 'score': 10.35}, {'connected_gene': 'ALAS1', 'score': 0.44}]
chr3 GH03I052215 52215619 52221037 1.28 [{'connected_gene': 'ENSG00000280003', 'score': 550.77}, {'connected_gene': 'GLYCTK', 'score': 22.57}, {'connected_gene': 'PPM1M', 'score': 16.2}, {'connected_gene': 'WDR82', 'score': 11.62}, {'connected_gene': 'MIR135A1', 'score': 11.42}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.42}, {'connected_gene': 'DUSP7', 'score': 10.33}, {'connected_gene': 'TWF2', 'score': 8.4}, {'connected_gene': 'PARP3', 'score': 5.15}, {'connected_gene': 'SERBP1P3', 'score': 4.15}, {'connected_gene': 'PIR51375', 'score': 0.39}, {'connected_gene': 'GC03P052204', 'score': 0.39}]
chr3 GH03I052210 52210043 52212147 1.36 [{'connected_gene': 'ENSG00000173366', 'score': 13.08}, {'connected_gene': 'LOC101929054', 'score': 13.05}, {'connected_gene': 'TWF2', 'score': 13.05}, {'connected_gene': 'PPM1M', 'score': 11.57}, {'connected_gene': 'WDR82', 'score': 11.4}, {'connected_gene': 'MIR135A1', 'score': 11.34}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.33}, {'connected_gene': 'GLYCTK', 'score': 11.12}, {'connected_gene': 'POC1A', 'score': 11.09}, {'connected_gene': 'DUSP7', 'score': 11.05}, {'connected_gene': 'PIR51375', 'score': 0.44}, {'connected_gene': 'GC03P052204', 'score': 0.44}, {'connected_gene': 'ENSG00000280003', 'score': 0.44}, {'connected_gene': 'ALAS1', 'score': 0.39}]
chr3 GH03I052233 52233067 52233074 0.52 [{'connected_gene': 'ENSG00000173366', 'score': 550.77}, {'connected_gene': 'LOC101929054', 'score': 0.44}, {'connected_gene': 'TWF2', 'score': 0.44}]

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