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
ENST00000534478 [[211431718, 211431867], [211432920, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449677]] [[211433457, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449677]]
ENST00000533469 [[211431749, 211431832], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451565]] [[211433457, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451565]]
ENST00000367006 [[211432620, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486765, 211487933]] [[211432902, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486765, 211487001]]
ENST00000452621 [[211432729, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486640]] [[211432902, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486336]]
ENST00000528926 [[211432737, 211433068], [211433449, 211433506], [211441116, 211441212], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211464865, 211464941], [211469017, 211469095], [211477424, 211477482], [211486061, 211486146]] [[211432902, 211433068], [211433449, 211433506], [211441116, 211441212], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211464865, 211464941], [211469017, 211469031]]
ENST00000419091 [[211432774, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486303], [211486765, 211487361]] [[211432902, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486303], [211486765, 211487110]]
ENST00000528408 [[211432894, 211433068], [211433449, 211433506], [211444573, 211444912]] None
ENST00000472734 [[211432947, 211433068], [211433449, 211433506], [211434270, 211434544]] None
ENST00000529572 [[211433288, 211433506], [211444573, 211444651], [211444869, 211445216], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452618]] [[211433457, 211433506], [211444573, 211444651], [211444869, 211444877]]
ENST00000367005 [[211433316, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486303], [211486765, 211489727]] [[211433457, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486303], [211486765, 211487110]]
ENST00000534460 [[211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211486765, 211486816]] [[211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211486765, 211486816]]
ENST00000529763 [[211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486177], [211486765, 211487014]] [[211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486177], [211486765, 211487014]]
ENST00000485186 [[211462673, 211462738], [211469017, 211469095], [211477424, 211477482], [211485696, 211485829], [211486061, 211486161]] [[211462673, 211462738], [211469017, 211469095], [211477424, 211477482], [211485696, 211485719]]
ENST00000486666 [[211474802, 211477482], [211486061, 211486303], [211486765, 211487929]] None
ENST00000528066 [[211477352, 211477482], [211485696, 211485829], [211486061, 211486367]] None
ENST00000526255 [[211485578, 211485829], [211486061, 211486303], [211486765, 211487181]] None
NM_001136225 [[211432707, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486655]] [[211432902, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486336]]
NM_001136224 [[211432707, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486765, 211489727]] [[211432902, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486765, 211487001]]
NM_001136223 [[211432707, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486303], [211486765, 211489727]] [[211432902, 211433068], [211433449, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486303], [211486765, 211487110]]
NM_018254 [[211433288, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486303], [211486765, 211489727]] [[211433457, 211433506], [211444573, 211444651], [211447551, 211447604], [211449598, 211449760], [211451458, 211451583], [211452579, 211452658], [211462519, 211462738], [211469017, 211469095], [211477424, 211477482], [211486061, 211486303], [211486765, 211487110]]
Promoter
Chrom Start End Description
chr1 211432593 211432642 CAGE_peak_6_at_RCOR3_5end
chr1 211432643 211432652 CAGE_peak_20_at_RCOR3_5end
chr1 211432700 211432753 CAGE_peak_1_at_RCOR3_5end
chr1 211432784 211432796 CAGE_peak_8_at_RCOR3_5end
chr1 211432810 211432817 CAGE_peak_9_at_RCOR3_5end
chr1 211432823 211432851 CAGE_peak_3_at_RCOR3_5end
chr1 211432862 211432871 CAGE_peak_10_at_RCOR3_5end
chr1 211432872 211432883 CAGE_peak_7_at_RCOR3_5end
chr1 211432887 211432903 CAGE_peak_4_at_RCOR3_5end
chr1 211433151 211433191 CAGE_peak_5_at_RCOR3_5end
chr1 211433275 211433335 CAGE_peak_2_at_RCOR3_5end
chr1 211433417 211433428 CAGE_peak_17_at_RCOR3_5end
chr1 211433429 211433441 CAGE_peak_14_at_RCOR3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I211674 211674469 211676736 2.11 [{'connected_gene': 'LOC91548', 'score': 556.95}, {'connected_gene': 'NEK2', 'score': 550.77}, {'connected_gene': 'RCOR3', 'score': 20.37}, {'connected_gene': 'SNX25P1', 'score': 10.53}, {'connected_gene': 'RPL21P28', 'score': 10.52}, {'connected_gene': 'DTL', 'score': 10.35}, {'connected_gene': 'INTS7', 'score': 10.35}, {'connected_gene': 'SLC30A1', 'score': 10.11}, {'connected_gene': 'FDPSP8', 'score': 0.39}]
chr1 GH01I211309 211309139 211314398 0.7 [{'connected_gene': 'LINC00467', 'score': 16.38}, {'connected_gene': 'SLC30A1', 'score': 10.04}, {'connected_gene': 'GC01M211316', 'score': 0.44}, {'connected_gene': 'GC01P211304', 'score': 0.44}, {'connected_gene': 'RCOR3', 'score': 0.23}]
chr1 GH01I211513 211513754 211518166 1.71 [{'connected_gene': 'SLC30A1', 'score': 17.38}, {'connected_gene': 'TRAF5', 'score': 12.18}, {'connected_gene': 'RCOR3', 'score': 11.17}, {'connected_gene': 'LINC00467', 'score': 6.43}, {'connected_gene': 'RD3', 'score': 0.34}, {'connected_gene': 'GC01M211578', 'score': 0.21}]
chr1 GH01I211630 211630048 211631761 1.43 [{'connected_gene': 'SLC30A1', 'score': 12.9}, {'connected_gene': 'RCOR3', 'score': 10.0}, {'connected_gene': 'LINC01740', 'score': 4.06}, {'connected_gene': 'LINC01693', 'score': 0.44}, {'connected_gene': 'LOC105372903', 'score': 0.34}]
chr1 GH01I211632 211632157 211633803 1.17 [{'connected_gene': 'SLC30A1', 'score': 13.08}, {'connected_gene': 'RCOR3', 'score': 11.52}, {'connected_gene': 'RPL21P28', 'score': 10.52}, {'connected_gene': 'LINC01693', 'score': 0.44}, {'connected_gene': 'LOC105372903', 'score': 0.34}]
chr1 GH01I211610 211610802 211615095 1.42 [{'connected_gene': 'SLC30A1', 'score': 13.07}, {'connected_gene': 'RCOR3', 'score': 12.18}, {'connected_gene': 'RPL21P28', 'score': 10.09}, {'connected_gene': 'LOC105372903', 'score': 0.77}, {'connected_gene': 'LINC01693', 'score': 0.31}]
chr1 GH01I211326 211326170 211330695 2.43 [{'connected_gene': 'TRAF5', 'score': 558.12}, {'connected_gene': 'LINC00467', 'score': 17.62}, {'connected_gene': 'RCOR3', 'score': 11.72}, {'connected_gene': 'PPP2R5A', 'score': 4.75}]
chr1 GH01I211348 211348881 211350311 0.31 [{'connected_gene': 'TRAF5', 'score': 12.96}, {'connected_gene': 'LINC00467', 'score': 9.08}, {'connected_gene': 'RCOR3', 'score': 4.9}]
chr1 GH01I211358 211358834 211361831 0.43 [{'connected_gene': 'TRAF5', 'score': 12.53}, {'connected_gene': 'LINC00467', 'score': 6.9}, {'connected_gene': 'RCOR3', 'score': 4.89}]
chr1 GH01I211351 211351692 211354600 1.17 [{'connected_gene': 'TRAF5', 'score': 12.94}, {'connected_gene': 'RCOR3', 'score': 4.9}, {'connected_gene': 'LINC00467', 'score': 0.31}]
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 GH01I211889 211889206 211890268 0.72 [{'connected_gene': 'RCOR3', 'score': 9.84}, {'connected_gene': 'LPGAT1', 'score': 8.81}, {'connected_gene': 'INTS7', 'score': 7.84}, {'connected_gene': 'PIR53279', 'score': 0.37}, {'connected_gene': 'ENSG00000233626', 'score': 0.25}]
chr1 GH01I211371 211371539 211371688 0.77 [{'connected_gene': 'RCOR3', 'score': 14.04}, {'connected_gene': 'LINC00467', 'score': 0.39}, {'connected_gene': 'TRAF5', 'score': 0.25}]
chr1 GH01I211332 211332990 211334382 0.76 [{'connected_gene': 'RCOR3', 'score': 12.15}, {'connected_gene': 'LINC00467', 'score': 5.17}, {'connected_gene': 'TRAF5', 'score': 0.44}]
chr1 GH01I211248 211248059 211248208 0.6 [{'connected_gene': 'RCOR3', 'score': 12.52}, {'connected_gene': 'LINC00467', 'score': 11.22}, {'connected_gene': 'RPL21P28', 'score': 10.07}, {'connected_gene': 'GC01M211207', 'score': 0.26}]
chr1 GH01I211256 211256621 211261676 2.13 [{'connected_gene': 'RCOR3', 'score': 581.17}, {'connected_gene': 'LOC105372902', 'score': 550.77}, {'connected_gene': 'LINC00467', 'score': 12.6}, {'connected_gene': 'HHAT', 'score': 11.05}, {'connected_gene': 'RPL21P28', 'score': 10.08}]
chr1 GH01I211843 211843001 211843400 0.52 [{'connected_gene': 'RCOR3', 'score': 10.27}, {'connected_gene': 'LOC102723727', 'score': 0.39}, {'connected_gene': 'LPGAT1', 'score': 0.39}, {'connected_gene': 'GC01M211858', 'score': 0.31}]
chr1 GH01I210537 210537062 210537292 0.45 [{'connected_gene': 'RCOR3', 'score': 11.32}, {'connected_gene': 'LOC100421537', 'score': 0.19}, {'connected_gene': 'ENSG00000279333', 'score': 0.11}, {'connected_gene': 'HHAT', 'score': 0.08}]
chr1 GH01I211525 211525562 211531723 0.78 [{'connected_gene': 'RCOR3', 'score': 12.18}, {'connected_gene': 'RPL21P28', 'score': 10.08}, {'connected_gene': 'LINC00467', 'score': 7.75}, {'connected_gene': 'RD3', 'score': 0.28}, {'connected_gene': 'GC01M211578', 'score': 0.25}]
chr1 GH01I211222 211222059 211223318 0.93 [{'connected_gene': 'RCOR3', 'score': 22.18}, {'connected_gene': 'RPL21P28', 'score': 13.67}, {'connected_gene': 'LINC00467', 'score': 8.08}, {'connected_gene': 'GC01M211207', 'score': 0.37}]
chr1 GH01I212151 212151883 212153938 0.99 [{'connected_gene': 'RCOR3', 'score': 19.64}, {'connected_gene': 'GC01P212144', 'score': 0.44}, {'connected_gene': 'ENSG00000229983', 'score': 0.37}]
chr1 GH01I211250 211250482 211250701 0.22 [{'connected_gene': 'RCOR3', 'score': 0.44}, {'connected_gene': 'GC01M211207', 'score': 0.26}]
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 GH01I212029 212029937 212032471 1.37 [{'connected_gene': 'DTL', 'score': 10.63}, {'connected_gene': 'NEK2', 'score': 10.36}, {'connected_gene': 'LOC91548', 'score': 10.36}, {'connected_gene': 'RCOR3', 'score': 10.27}, {'connected_gene': 'INTS7', 'score': 9.19}, {'connected_gene': 'ENSG00000212187', 'score': 0.44}]
chr1 GH01I211228 211228985 211229837 0.58 [{'connected_gene': 'LOC388734', 'score': 11.96}, {'connected_gene': 'RCOR3', 'score': 11.84}, {'connected_gene': 'LINC00467', 'score': 8.06}, {'connected_gene': 'GC01M211207', 'score': 0.34}]
chr1 GH01I212033 212033933 212038524 2.32 [{'connected_gene': 'INTS7', 'score': 559.2}, {'connected_gene': 'DTL', 'score': 550.77}, {'connected_gene': 'RCOR3', 'score': 57.06}, {'connected_gene': 'RPL21P28', 'score': 10.84}, {'connected_gene': 'ANGEL2', 'score': 10.47}, {'connected_gene': 'NEK2', 'score': 10.36}, {'connected_gene': 'LOC91548', 'score': 10.36}, {'connected_gene': 'LPGAT1', 'score': 4.52}]
chr1 GH01I211927 211927600 211931314 1.43 [{'connected_gene': 'LOC102723727', 'score': 19.68}, {'connected_gene': 'RCOR3', 'score': 12.15}, {'connected_gene': 'LPGAT1', 'score': 11.49}, {'connected_gene': 'NEK2', 'score': 10.96}, {'connected_gene': 'LOC91548', 'score': 10.96}, {'connected_gene': 'SNX25P1', 'score': 10.76}, {'connected_gene': 'ENSG00000212187', 'score': 10.57}, {'connected_gene': 'RPL21P28', 'score': 10.18}, {'connected_gene': 'INTS7', 'score': 9.98}, {'connected_gene': 'ENSG00000233626', 'score': 0.44}, {'connected_gene': 'PIR53279', 'score': 0.22}]
chr1 GH01I212234 212234130 212239721 1.38 [{'connected_gene': 'LOC101929541', 'score': 17.92}, {'connected_gene': 'TMEM206', 'score': 15.24}, {'connected_gene': 'RCOR3', 'score': 12.15}, {'connected_gene': 'RPL21P28', 'score': 10.14}, {'connected_gene': 'GC01P212241', 'score': 0.77}, {'connected_gene': 'GC01M212205', 'score': 0.29}]
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}]

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