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
ENST00000592204 [[12936291, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945302, 12945390]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945302, 12945314]]
ENST00000393233 [[12936292, 12937480], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945598, 12945660], [12945896, 12946242]] [[12937143, 12937480], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940669]]
ENST00000589272 [[12936292, 12937480], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945598, 12945660], [12945896, 12946242]] [[12937420, 12937480], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945598, 12945660], [12945896, 12945912]]
ENST00000322912 [[12936295, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945598, 12945660], [12945896, 12946230]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945598, 12945660], [12945896, 12945912]]
ENST00000458671 [[12936296, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12941095, 12941230]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940793]]
ENST00000586969 [[12936567, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940799], [12941425, 12941469]] [[12936567, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940793]]
ENST00000589681 [[12936611, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939749], [12940624, 12940799], [12941425, 12941476]] [[12936611, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939749], [12940624, 12940793]]
ENST00000589808 [[12936650, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12941425, 12941489]] [[12936650, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940793]]
ENST00000590404 [[12936655, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940799], [12945302, 12945362]] [[12936655, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940799], [12945302, 12945314]]
ENST00000585384 [[12937603, 12937685], [12939470, 12939581], [12939682, 12939842], [12940624, 12940811], [12941425, 12941477]] [[12937603, 12937685], [12939470, 12939581], [12939682, 12939842], [12940624, 12940793]]
ENST00000589567 [[12937659, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940799], [12941095, 12941163]] [[12937659, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940793]]
ENST00000591512 [[12939706, 12939749], [12940624, 12940811], [12945598, 12946229]] [[12939706, 12939749], [12940624, 12940793]]
ENST00000587549 [[12939766, 12939842], [12940624, 12940811], [12945598, 12945660], [12945896, 12946229]] [[12939766, 12939842], [12940624, 12940811], [12945598, 12945660], [12945896, 12945912]]
NM_001080997 [[12936290, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12941095, 12941230]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940793]]
NM_001270443 [[12936290, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12941425, 12941489]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940793]]
NM_001270445 [[12936290, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939749], [12940624, 12940811], [12941425, 12941489]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939749], [12940624, 12940793]]
NM_001270444 [[12936290, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940799], [12941425, 12941489]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940793]]
NM_001270441 [[12936290, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945302, 12945390]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945302, 12945314]]
NM_001270442 [[12936290, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940799], [12945302, 12945390]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940799], [12945302, 12945314]]
NM_001270440 [[12936290, 12937480], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945598, 12945660], [12945896, 12946242]] [[12937420, 12937480], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945598, 12945660], [12945896, 12945912]]
NM_031429 [[12936290, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945598, 12945660], [12945896, 12946242]] [[12936519, 12936747], [12937588, 12937685], [12939470, 12939581], [12939682, 12939767], [12940624, 12940811], [12945598, 12945660], [12945896, 12945912]]
Promoter
Chrom Start End Description
chr19 12941129 12941138 CAGE_peak_11_at_RTBDN_5end
chr19 12941180 12941203 CAGE_peak_9_at_RTBDN_5end
chr19 12941215 12941224 CAGE_peak_14_at_RTBDN_5end
chr19 12941237 12941246 CAGE_peak_15_at_RTBDN_5end
chr19 12941455 12941458 CAGE_peak_7_at_RTBDN_5end
chr19 12941474 12941498 CAGE_peak_1_at_RTBDN_5end
chr19 12941503 12941506 CAGE_peak_8_at_RTBDN_5end
chr19 12941510 12941515 CAGE_peak_4_at_RTBDN_5end
chr19 12945329 12945340 CAGE_peak_5_at_RTBDN_5end
chr19 12945382 12945400 CAGE_peak_2_at_RTBDN_5end
chr19 12945478 12945499 CAGE_peak_6_at_RTBDN_5end
chr19 12946215 12946224 CAGE_peak_10_at_RTBDN_5end
chr19 12946236 12946262 CAGE_peak_3_at_RTBDN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I012839 12839207 12839336 0.68 [{'connected_gene': 'RTBDN', 'score': 550.77}, {'connected_gene': 'GC19M012844', 'score': 0.77}, {'connected_gene': 'MAST1', 'score': 0.44}, {'connected_gene': 'HOOK2', 'score': 0.29}]
chr19 GH19I012838 12838327 12838601 1.79 [{'connected_gene': 'RTBDN', 'score': 550.77}, {'connected_gene': 'MAST1', 'score': 550.77}, {'connected_gene': 'GC19M012844', 'score': 0.44}, {'connected_gene': 'HOOK2', 'score': 0.29}]
chr19 GH19I012833 12833747 12834767 1.84 [{'connected_gene': 'RTBDN', 'score': 550.77}, {'connected_gene': 'MAST1', 'score': 550.77}, {'connected_gene': 'HOOK2', 'score': 0.28}]
chr19 GH19I012835 12835287 12836800 1.94 [{'connected_gene': 'RTBDN', 'score': 550.77}, {'connected_gene': 'DNASE2', 'score': 10.81}, {'connected_gene': 'GCDH', 'score': 5.44}, {'connected_gene': 'MAST1', 'score': 2.72}, {'connected_gene': 'HOOK2', 'score': 0.28}]
chr19 GH19I012830 12830607 12830728 1.15 [{'connected_gene': 'RTBDN', 'score': 550.44}, {'connected_gene': 'LOC105372281', 'score': 0.77}, {'connected_gene': 'GC19M012828', 'score': 0.77}, {'connected_gene': 'MAST1', 'score': 0.77}, {'connected_gene': 'HOOK2', 'score': 0.26}]
chr19 GH19I012831 12830309 12830368 0.5 [{'connected_gene': 'RTBDN', 'score': 550.44}, {'connected_gene': 'LOC105372281', 'score': 0.77}, {'connected_gene': 'GC19M012828', 'score': 0.77}, {'connected_gene': 'MAST1', 'score': 0.77}, {'connected_gene': 'HOOK2', 'score': 0.26}]
chr19 GH19I013632 13632413 13634079 1.35 [{'connected_gene': 'CACNA1A', 'score': 560.74}, {'connected_gene': 'CCDC130', 'score': 88.08}, {'connected_gene': 'MRI1', 'score': 65.19}, {'connected_gene': 'WDR83OS', 'score': 64.4}, {'connected_gene': 'TRMT1', 'score': 45.04}, {'connected_gene': 'TRIR', 'score': 41.36}, {'connected_gene': 'RPS6P25', 'score': 31.1}, {'connected_gene': 'RFX1', 'score': 29.8}, {'connected_gene': 'DCAF15', 'score': 23.95}, {'connected_gene': 'DDX39A', 'score': 20.91}, {'connected_gene': 'MAN2B1', 'score': 19.56}, {'connected_gene': 'SNRPGP15', 'score': 18.49}, {'connected_gene': 'ADGRL1', 'score': 14.71}, {'connected_gene': 'DHPS', 'score': 11.94}, {'connected_gene': 'TNPO2', 'score': 11.84}, {'connected_gene': 'RTBDN', 'score': 11.29}, {'connected_gene': 'ZNF490', 'score': 11.08}, {'connected_gene': 'SYCE2', 'score': 10.46}, {'connected_gene': 'FBXW9', 'score': 9.97}, {'connected_gene': 'GC19M013679', 'score': 0.25}]
chr19 GH19I012609 12609971 12614750 2.58 [{'connected_gene': 'ZNF490', 'score': 573.37}, {'connected_gene': 'ZNF791', 'score': 564.8}, {'connected_gene': 'PIR37932', 'score': 550.77}, {'connected_gene': 'ZNF136', 'score': 77.63}, {'connected_gene': 'ZNF44', 'score': 52.16}, {'connected_gene': 'ZNF20', 'score': 49.68}, {'connected_gene': 'ZNF700', 'score': 48.64}, {'connected_gene': 'ZNF799', 'score': 46.77}, {'connected_gene': 'ZNF442', 'score': 43.24}, {'connected_gene': 'ZNF844', 'score': 38.85}, {'connected_gene': 'ZNF564', 'score': 37.17}, {'connected_gene': 'TRMT1', 'score': 36.14}, {'connected_gene': 'WDR83OS', 'score': 35.16}, {'connected_gene': 'ZNF441', 'score': 32.69}, {'connected_gene': 'ZNF625', 'score': 26.21}, {'connected_gene': 'TRIR', 'score': 26.08}, {'connected_gene': 'ZNF763', 'score': 22.3}, {'connected_gene': 'ZNF823', 'score': 21.97}, {'connected_gene': 'FBXW9', 'score': 21.18}, {'connected_gene': 'ZNF491', 'score': 20.96}, {'connected_gene': 'RPS6P25', 'score': 17.79}, {'connected_gene': 'HNRNPA1P10', 'score': 15.11}, {'connected_gene': 'JUNB', 'score': 13.75}, {'connected_gene': 'ZNF433', 'score': 13.34}, {'connected_gene': 'ZNF563', 'score': 12.19}, {'connected_gene': 'ZNF878', 'score': 12.15}, {'connected_gene': 'RNASEH2A', 'score': 12.07}, {'connected_gene': 'LOC105372278', 'score': 11.68}, {'connected_gene': 'RTBDN', 'score': 11.34}, {'connected_gene': 'ZNF887P', 'score': 11.15}, {'connected_gene': 'ZNF443', 'score': 10.82}, {'connected_gene': 'RPL28P5', 'score': 10.71}, {'connected_gene': 'ZNF709', 'score': 10.5}, {'connected_gene': 'ZNF440', 'score': 9.7}, {'connected_gene': 'PGK1P2', 'score': 9.12}, {'connected_gene': 'MAN2B1', 'score': 2.1}]
chr19 GH19I012720 12720285 12724467 2.11 [{'connected_gene': 'TNPO2', 'score': 555.43}, {'connected_gene': 'ZNF136', 'score': 47.07}, {'connected_gene': 'TRMT1', 'score': 47.05}, {'connected_gene': 'ZNF44', 'score': 35.89}, {'connected_gene': 'ZNF700', 'score': 34.96}, {'connected_gene': 'ZNF564', 'score': 34.86}, {'connected_gene': 'ZNF799', 'score': 34.15}, {'connected_gene': 'WDR83OS', 'score': 30.81}, {'connected_gene': 'ZNF763', 'score': 28.79}, {'connected_gene': 'ZNF791', 'score': 28.1}, {'connected_gene': 'ZNF442', 'score': 27.2}, {'connected_gene': 'ZNF20', 'score': 25.06}, {'connected_gene': 'ZNF625', 'score': 24.43}, {'connected_gene': 'ZNF823', 'score': 23.74}, {'connected_gene': 'ZNF878', 'score': 23.74}, {'connected_gene': 'ZNF844', 'score': 23.66}, {'connected_gene': 'TRIR', 'score': 23.49}, {'connected_gene': 'ZNF491', 'score': 22.25}, {'connected_gene': 'ZNF441', 'score': 20.43}, {'connected_gene': 'RPS6P25', 'score': 19.75}, {'connected_gene': 'ZNF490', 'score': 12.5}, {'connected_gene': 'ZNF439', 'score': 11.63}, {'connected_gene': 'RTBDN', 'score': 11.39}, {'connected_gene': 'ZNF433-AS1', 'score': 11.19}, {'connected_gene': 'MAN2B1', 'score': 10.74}, {'connected_gene': 'ZNF709', 'score': 10.42}, {'connected_gene': 'ZNF440', 'score': 10.4}, {'connected_gene': 'ENSG00000242615', 'score': 9.73}, {'connected_gene': 'GC19M012777', 'score': 0.77}]
chr19 GH19I012760 12760600 12760836 0.88 [{'connected_gene': 'ZNF844', 'score': 14.28}, {'connected_gene': 'ZNF433', 'score': 13.91}, {'connected_gene': 'JUNB', 'score': 12.87}, {'connected_gene': 'HOOK2', 'score': 12.71}, {'connected_gene': 'ASNA1', 'score': 12.57}, {'connected_gene': 'TRIR', 'score': 12.54}, {'connected_gene': 'TNPO2', 'score': 12.51}, {'connected_gene': 'MAST1', 'score': 12.3}, {'connected_gene': 'ZNF442', 'score': 12.06}, {'connected_gene': 'RNASEH2A', 'score': 11.98}, {'connected_gene': 'RTBDN', 'score': 11.87}, {'connected_gene': 'ZNF136', 'score': 11.75}, {'connected_gene': 'ZNF791', 'score': 11.39}, {'connected_gene': 'WDR83OS', 'score': 11.25}, {'connected_gene': 'MAN2B1', 'score': 11.24}, {'connected_gene': 'WDR83', 'score': 11.24}, {'connected_gene': 'ZNF44', 'score': 10.41}, {'connected_gene': 'ZNF563', 'score': 9.88}, {'connected_gene': 'GC19M012789', 'score': 0.44}, {'connected_gene': 'GC19M012776', 'score': 0.44}, {'connected_gene': 'BEST2', 'score': 0.44}]
chr19 GH19I012836 12833467 12833616 0.38 [{'connected_gene': 'MAST1', 'score': 550.77}, {'connected_gene': 'RTBDN', 'score': 0.77}, {'connected_gene': 'GC19M012828', 'score': 0.44}, {'connected_gene': 'HOOK2', 'score': 0.28}]
chr19 GH19I012834 12832307 12832416 0.88 [{'connected_gene': 'MAST1', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 26.34}, {'connected_gene': 'ZNF564', 'score': 21.49}, {'connected_gene': 'WDR83OS', 'score': 19.8}, {'connected_gene': 'ZNF791', 'score': 18.93}, {'connected_gene': 'MRI1', 'score': 18.09}, {'connected_gene': 'ZNF700', 'score': 16.59}, {'connected_gene': 'ZNF44', 'score': 15.33}, {'connected_gene': 'TRMT1', 'score': 14.87}, {'connected_gene': 'ZNF799', 'score': 14.76}, {'connected_gene': 'ZNF136', 'score': 14.39}, {'connected_gene': 'TRIR', 'score': 14.23}, {'connected_gene': 'RPS6P25', 'score': 13.17}, {'connected_gene': 'ZNF442', 'score': 11.36}, {'connected_gene': 'ZNF763', 'score': 10.85}, {'connected_gene': 'ZNF878', 'score': 10.71}, {'connected_gene': 'MAN2B1', 'score': 9.84}, {'connected_gene': 'GCDH', 'score': 5.12}, {'connected_gene': 'GC19M012828', 'score': 0.44}, {'connected_gene': 'LOC105372281', 'score': 0.44}, {'connected_gene': 'RTBDN', 'score': 0.44}, {'connected_gene': 'HOOK2', 'score': 0.26}]
chr19 GH19I012832 12832507 12832676 1.04 [{'connected_gene': 'MAST1', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 26.34}, {'connected_gene': 'ZNF564', 'score': 21.49}, {'connected_gene': 'WDR83OS', 'score': 19.8}, {'connected_gene': 'ZNF791', 'score': 18.93}, {'connected_gene': 'MRI1', 'score': 18.09}, {'connected_gene': 'ZNF700', 'score': 16.59}, {'connected_gene': 'ZNF44', 'score': 15.33}, {'connected_gene': 'TRMT1', 'score': 14.86}, {'connected_gene': 'ZNF799', 'score': 14.76}, {'connected_gene': 'ZNF136', 'score': 14.39}, {'connected_gene': 'TRIR', 'score': 14.23}, {'connected_gene': 'RPS6P25', 'score': 13.17}, {'connected_gene': 'ZNF442', 'score': 11.36}, {'connected_gene': 'ZNF763', 'score': 10.85}, {'connected_gene': 'ZNF878', 'score': 10.71}, {'connected_gene': 'MAN2B1', 'score': 9.84}, {'connected_gene': 'GC19M012828', 'score': 0.44}, {'connected_gene': 'LOC105372281', 'score': 0.44}, {'connected_gene': 'RTBDN', 'score': 0.44}, {'connected_gene': 'HOOK2', 'score': 0.26}]
chr19 GH19I012840 12840082 12841896 1.04 [{'connected_gene': 'DNASE2', 'score': 27.45}, {'connected_gene': 'MAST1', 'score': 4.97}, {'connected_gene': 'RTBDN', 'score': 0.77}, {'connected_gene': 'GC19M012844', 'score': 0.77}, {'connected_gene': 'HOOK2', 'score': 0.29}]
chr19 GH19I012825 12825127 12826516 1.11 [{'connected_gene': 'LOC105372281', 'score': 550.77}, {'connected_gene': 'GC19M012828', 'score': 550.77}, {'connected_gene': 'PRDX2', 'score': 12.32}, {'connected_gene': 'BEST2', 'score': 11.96}, {'connected_gene': 'GCDH', 'score': 5.42}, {'connected_gene': 'RTBDN', 'score': 0.39}, {'connected_gene': 'HOOK2', 'score': 0.25}]
chr19 GH19I012805 12805933 12807577 2.07 [{'connected_gene': 'RNASEH2A', 'score': 569.53}, {'connected_gene': 'ZNF136', 'score': 42.08}, {'connected_gene': 'ZNF20', 'score': 30.27}, {'connected_gene': 'ZNF763', 'score': 30.19}, {'connected_gene': 'CCDC130', 'score': 28.3}, {'connected_gene': 'TRMT1', 'score': 27.35}, {'connected_gene': 'ZNF700', 'score': 22.89}, {'connected_gene': 'ZNF44', 'score': 22.42}, {'connected_gene': 'ZNF442', 'score': 20.17}, {'connected_gene': 'ZNF625', 'score': 18.23}, {'connected_gene': 'ZNF799', 'score': 18.22}, {'connected_gene': 'ZNF490', 'score': 16.06}, {'connected_gene': 'ZNF439', 'score': 15.1}, {'connected_gene': 'ZNF788', 'score': 14.69}, {'connected_gene': 'ZNF564', 'score': 14.12}, {'connected_gene': 'ZNF844', 'score': 13.84}, {'connected_gene': 'ZNF709', 'score': 13.55}, {'connected_gene': 'ZNF791', 'score': 13.48}, {'connected_gene': 'ENSG00000242615', 'score': 13.31}, {'connected_gene': 'WDR83OS', 'score': 13.15}, {'connected_gene': 'MAST1', 'score': 12.78}, {'connected_gene': 'RTBDN', 'score': 12.74}, {'connected_gene': 'ZNF878', 'score': 12.72}, {'connected_gene': 'BEST2', 'score': 11.87}, {'connected_gene': 'TRIR', 'score': 11.44}, {'connected_gene': 'DNASE2', 'score': 11.24}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'RPS6P25', 'score': 11.06}, {'connected_gene': 'RPL28P5', 'score': 10.69}, {'connected_gene': 'MAN2B1', 'score': 10.64}, {'connected_gene': 'FBXW9', 'score': 10.56}, {'connected_gene': 'DHPS', 'score': 10.3}, {'connected_gene': 'ZNF440', 'score': 9.69}, {'connected_gene': 'PRDX2', 'score': 5.15}, {'connected_gene': 'THSD8', 'score': 0.77}, {'connected_gene': 'LOC105372281', 'score': 0.37}, {'connected_gene': 'HOOK2', 'score': 0.2}]
chr19 GH19I012757 12757323 12758518 1.29 [{'connected_gene': 'JUNB', 'score': 12.87}, {'connected_gene': 'HOOK2', 'score': 12.71}, {'connected_gene': 'ASNA1', 'score': 12.57}, {'connected_gene': 'TRIR', 'score': 12.57}, {'connected_gene': 'TNPO2', 'score': 12.52}, {'connected_gene': 'MAST1', 'score': 12.29}, {'connected_gene': 'RNASEH2A', 'score': 11.98}, {'connected_gene': 'RTBDN', 'score': 11.86}, {'connected_gene': 'WDR83OS', 'score': 11.25}, {'connected_gene': 'MAN2B1', 'score': 11.24}, {'connected_gene': 'WDR83', 'score': 11.24}, {'connected_gene': 'BEST2', 'score': 0.44}, {'connected_gene': 'GC19M012789', 'score': 0.39}, {'connected_gene': 'GC19M012776', 'score': 0.39}]
chr19 GH19I012828 12828401 12829000 0.94 [{'connected_gene': 'GC19M012828', 'score': 550.77}, {'connected_gene': 'PRDX2', 'score': 9.72}, {'connected_gene': 'LOC105372281', 'score': 0.77}, {'connected_gene': 'RTBDN', 'score': 0.44}, {'connected_gene': 'MAST1', 'score': 0.44}, {'connected_gene': 'HOOK2', 'score': 0.26}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.