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
ENST00000263856 [[86730553, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86769374, 86769435], [86790426, 86790600]] [[86732926, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86769374, 86769435], [86790426, 86790471]]
ENST00000409727 [[86731650, 86733072], [86734601, 86734716], [86737480, 86737552], [86756410, 86756520], [86769374, 86769435], [86790426, 86790497]] [[86732926, 86733072], [86734601, 86734716], [86737480, 86737552], [86756410, 86756520], [86769374, 86769435], [86790426, 86790471]]
ENST00000409225 [[86732566, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86790426, 86790602]] [[86732926, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756428]]
ENST00000439940 [[86732790, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86769374, 86769435], [86847452, 86847592], [86915354, 86915448], [86948104, 86948245]] [[86732926, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86769374, 86769435], [86847452, 86847584]]
ENST00000393773 [[86732897, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86769374, 86769435], [86790215, 86790289]] None
ENST00000409810 [[86733051, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86769374, 86769435], [86769910, 86769970]] None
ENST00000486404 [[86737500, 86737602], [86756340, 86756520], [86769374, 86769435], [86788757, 86789064]] None
ENST00000485465 [[86767765, 86768487], [86769374, 86769435], [86790426, 86790563]] None
ENST00000494623 [[86734170, 86734716], [86737480, 86739658]] None
ENST00000466032 [[86754170, 86754364], [86756340, 86756520], [86769374, 86769436]] None
NM_016079 [[86730552, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86769374, 86769435], [86790426, 86790620]] [[86732926, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86769374, 86769435], [86790426, 86790471]]
NM_001193517 [[86730552, 86733072], [86734601, 86734716], [86737480, 86737552], [86756410, 86756520], [86769374, 86769435], [86790426, 86790620]] [[86732926, 86733072], [86734601, 86734716], [86737480, 86737552], [86756410, 86756520], [86769374, 86769435], [86790426, 86790471]]
NM_001005753 [[86730552, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756520], [86790426, 86790620]] [[86732926, 86733072], [86734601, 86734716], [86737480, 86737602], [86756340, 86756428]]
NR_036454 [[86730552, 86733072], [86734601, 86734716], [86737480, 86737602], [86790426, 86790620]] None
Promoter
Chrom Start End Description
chr2 86769939 86769942 CAGE_peak_17_at_RNF103-CHMP3_5end,CAGE_peak_19_at_CHMP3_5end
chr2 86789052 86789062 CAGE_peak_16_at_RNF103-CHMP3_5end,CAGE_peak_18_at_CHMP3_5end
chr2 86790420 86790427 CAGE_peak_6_at_CHMP3_5end,CAGE_peak_6_at_RNF103-CHMP3_5end
chr2 86790472 86790504 CAGE_peak_2_at_CHMP3_5end,CAGE_peak_2_at_RNF103-CHMP3_5end
chr2 86790505 86790579 CAGE_peak_1_at_CHMP3_5end,CAGE_peak_1_at_RNF103-CHMP3_5end
chr2 86790580 86790591 CAGE_peak_4_at_CHMP3_5end,CAGE_peak_4_at_RNF103-CHMP3_5end
chr2 86790593 86790614 CAGE_peak_3_at_CHMP3_5end,CAGE_peak_3_at_RNF103-CHMP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I086805 86805212 86810495 2.51 [{'connected_gene': 'CD8A', 'score': 584.78}, {'connected_gene': 'CD8B', 'score': 18.85}, {'connected_gene': 'SNORD94', 'score': 9.83}, {'connected_gene': 'CHMP3', 'score': 9.68}, {'connected_gene': 'RNU6-640P', 'score': 9.68}, {'connected_gene': 'REEP1', 'score': 5.72}, {'connected_gene': 'PLGLB1', 'score': 4.07}, {'connected_gene': 'LOC105374846', 'score': 0.39}]
chr2 GH02I086783 86783119 86795755 1.98 [{'connected_gene': 'CD8A', 'score': 591.87}, {'connected_gene': 'CD8B', 'score': 21.15}, {'connected_gene': 'CHMP3', 'score': 20.0}, {'connected_gene': 'RNU6-640P', 'score': 10.07}, {'connected_gene': 'REEP1', 'score': 6.93}, {'connected_gene': 'ENSG00000231259', 'score': 6.74}, {'connected_gene': 'RMND5A', 'score': 4.65}, {'connected_gene': 'KDM3A', 'score': 2.11}, {'connected_gene': 'RNF103', 'score': 1.51}, {'connected_gene': 'LOC105374846', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.23}]
chr2 GH02I086769 86769130 86772348 0.31 [{'connected_gene': 'CD8A', 'score': 7.3}, {'connected_gene': 'RMND5A', 'score': 6.5}, {'connected_gene': 'ENSG00000231259', 'score': 5.63}, {'connected_gene': 'PLGLB1', 'score': 5.39}, {'connected_gene': 'CHMP3', 'score': 4.18}, {'connected_gene': 'LOC105374846', 'score': 0.34}, {'connected_gene': 'GC02M086689', 'score': 0.28}]
chr2 GH02I086776 86776341 86778386 0.2 [{'connected_gene': 'CD8A', 'score': 12.13}, {'connected_gene': 'CHMP3', 'score': 9.95}, {'connected_gene': 'RNU6-640P', 'score': 9.94}, {'connected_gene': 'ENSG00000202537', 'score': 9.45}, {'connected_gene': 'RMND5A', 'score': 7.39}, {'connected_gene': 'LOC105374846', 'score': 0.37}, {'connected_gene': 'GC02M086689', 'score': 0.26}]
chr2 GH02I086620 86620959 86624662 2.03 [{'connected_gene': 'RNF103', 'score': 550.77}, {'connected_gene': 'RNF103-CHMP3', 'score': 550.15}, {'connected_gene': 'CHMP3', 'score': 15.97}, {'connected_gene': 'RNU6-640P', 'score': 11.4}, {'connected_gene': 'MRPL35', 'score': 7.75}, {'connected_gene': 'POLR1A', 'score': 7.29}, {'connected_gene': 'PLGLB1', 'score': 6.38}, {'connected_gene': 'IMMT', 'score': 4.56}, {'connected_gene': 'GC02P086607', 'score': 0.37}, {'connected_gene': 'GC02P086603', 'score': 0.37}]
chr2 GH02I086694 86694668 86696122 1.61 [{'connected_gene': 'SNORD94', 'score': 41.53}, {'connected_gene': 'LOC102724642', 'score': 34.49}, {'connected_gene': 'RNF103-CHMP3', 'score': 10.88}, {'connected_gene': 'RNF103', 'score': 10.76}, {'connected_gene': 'POLR1A', 'score': 10.21}, {'connected_gene': 'CHMP3', 'score': 9.95}, {'connected_gene': 'RNU6-640P', 'score': 9.92}, {'connected_gene': 'RMND5A', 'score': 6.78}, {'connected_gene': 'CD8A', 'score': 5.64}, {'connected_gene': 'ENSG00000231259', 'score': 5.56}, {'connected_gene': 'GC02P086686', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.26}]
chr2 GH02I086392 86392914 86394514 0.96 [{'connected_gene': 'REEP1', 'score': 18.44}, {'connected_gene': 'ENSG00000251974', 'score': 11.78}, {'connected_gene': 'KDM3A', 'score': 10.63}, {'connected_gene': 'ENSG00000202537', 'score': 10.49}, {'connected_gene': 'RNU6-640P', 'score': 9.63}, {'connected_gene': 'CHMP3', 'score': 9.61}, {'connected_gene': 'POLR1A', 'score': 7.9}, {'connected_gene': 'MRPL35', 'score': 5.95}, {'connected_gene': 'GC02P086411', 'score': 0.37}]
chr2 GH02I086534 86534177 86534224 0.23 [{'connected_gene': 'REEP1', 'score': 2.07}, {'connected_gene': 'GC02M086516', 'score': 0.37}, {'connected_gene': 'RNU6-640P', 'score': 0.37}, {'connected_gene': 'LOC105374845', 'score': 0.31}, {'connected_gene': 'CHMP3', 'score': 0.31}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.09}]
chr2 GH02I086440 86440207 86443843 2.36 [{'connected_gene': 'KDM3A', 'score': 571.69}, {'connected_gene': 'GC02M086437', 'score': 550.77}, {'connected_gene': 'SNORD94', 'score': 78.34}, {'connected_gene': 'LOC102724642', 'score': 68.26}, {'connected_gene': 'C2orf68', 'score': 34.8}, {'connected_gene': 'ENSG00000231259', 'score': 34.4}, {'connected_gene': 'LOC100420889', 'score': 29.61}, {'connected_gene': 'USP39', 'score': 21.66}, {'connected_gene': 'PTCD3', 'score': 13.64}, {'connected_gene': 'LOC105374845', 'score': 11.35}, {'connected_gene': 'CHMP3', 'score': 10.68}, {'connected_gene': 'POLR1A', 'score': 10.23}, {'connected_gene': 'MAT2A', 'score': 10.13}, {'connected_gene': 'RNF103', 'score': 9.73}, {'connected_gene': 'MRPL35', 'score': 6.32}, {'connected_gene': 'GC02P086423', 'score': 0.37}, {'connected_gene': 'GC02M086424', 'score': 0.31}]
chr2 GH02I086413 86413601 86414200 0.6 [{'connected_gene': 'KDM3A', 'score': 12.22}, {'connected_gene': 'MRPL35', 'score': 7.45}, {'connected_gene': 'IMMT', 'score': 6.2}, {'connected_gene': 'CHMP3', 'score': 5.44}, {'connected_gene': 'GC02P086411', 'score': 0.77}, {'connected_gene': 'GC02P086423', 'score': 0.44}]
chr2 GH02I086824 86824001 86828199 0.71 [{'connected_gene': 'CHMP3', 'score': 8.47}, {'connected_gene': 'ENSG00000231259', 'score': 8.22}, {'connected_gene': 'CD8B', 'score': 5.08}, {'connected_gene': 'CD8A', 'score': 0.37}, {'connected_gene': 'ANAPC1P1', 'score': 0.28}]
chr2 GH02I086462 86462927 86465856 0.31 [{'connected_gene': 'CHMP3', 'score': 22.71}, {'connected_gene': 'RNF103', 'score': 14.59}, {'connected_gene': 'RNU6-640P', 'score': 11.75}, {'connected_gene': 'KDM3A', 'score': 11.4}, {'connected_gene': 'RNF103-CHMP3', 'score': 10.24}, {'connected_gene': 'CD8A', 'score': 4.06}, {'connected_gene': 'GC02M086424', 'score': 0.77}, {'connected_gene': 'GC02M086437', 'score': 0.34}, {'connected_gene': 'GC02P086423', 'score': 0.26}]
chr2 GH02I086475 86475139 86478469 0.46 [{'connected_gene': 'CHMP3', 'score': 21.16}, {'connected_gene': 'KDM3A', 'score': 11.48}, {'connected_gene': 'RNU6-640P', 'score': 10.99}, {'connected_gene': 'IMMT', 'score': 5.19}, {'connected_gene': 'LOC105374845', 'score': 4.22}, {'connected_gene': 'GC02M086424', 'score': 0.44}, {'connected_gene': 'GC02P086487', 'score': 0.39}, {'connected_gene': 'GC02P086423', 'score': 0.23}]
chr2 GH02I086366 86366873 86368800 0.89 [{'connected_gene': 'CHMP3', 'score': 9.54}, {'connected_gene': 'MRPL35', 'score': 7.99}, {'connected_gene': 'REEP1', 'score': 6.48}, {'connected_gene': 'ENSG00000251974', 'score': 0.77}, {'connected_gene': 'GC02P086411', 'score': 0.26}]
chr2 GH02I086764 86764669 86765487 0.82 [{'connected_gene': 'CHMP3', 'score': 10.75}, {'connected_gene': 'RNU6-640P', 'score': 10.73}, {'connected_gene': 'CD8A', 'score': 7.69}, {'connected_gene': 'GC02M086689', 'score': 0.31}, {'connected_gene': 'LOC105374846', 'score': 0.29}, {'connected_gene': 'RMND5A', 'score': 0.26}]
chr2 GH02I086631 86631361 86633725 0.79 [{'connected_gene': 'CHMP3', 'score': 14.5}, {'connected_gene': 'RNU6-640P', 'score': 10.15}, {'connected_gene': 'REEP1', 'score': 6.8}, {'connected_gene': 'POLR1A', 'score': 4.03}, {'connected_gene': 'RNF103', 'score': 0.44}, {'connected_gene': 'GC02P086686', 'score': 0.23}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.17}]
chr2 GH02I086490 86490798 86493082 0.65 [{'connected_gene': 'CHMP3', 'score': 22.97}, {'connected_gene': 'RNU6-640P', 'score': 11.57}, {'connected_gene': 'ENSG00000202537', 'score': 9.48}, {'connected_gene': 'GC02P086487', 'score': 0.77}, {'connected_gene': 'GC02M086516', 'score': 0.34}, {'connected_gene': 'KDM3A', 'score': 0.23}, {'connected_gene': 'GC02P086423', 'score': 0.2}]
chr2 GH02I086457 86457787 86459197 0.2 [{'connected_gene': 'CHMP3', 'score': 21.95}, {'connected_gene': 'RNU6-640P', 'score': 11.74}, {'connected_gene': 'GC02M086424', 'score': 0.44}, {'connected_gene': 'GC02M086437', 'score': 0.37}, {'connected_gene': 'KDM3A', 'score': 0.37}, {'connected_gene': 'GC02P086423', 'score': 0.28}]
chr2 GH02I086675 86675798 86675927 0.66 [{'connected_gene': 'CHMP3', 'score': 10.48}, {'connected_gene': 'RNU6-640P', 'score': 10.44}, {'connected_gene': 'LOC102724642', 'score': 5.04}, {'connected_gene': 'GC02P086686', 'score': 0.39}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.25}, {'connected_gene': 'RNF103', 'score': 0.23}]
chr2 GH02I086498 86498998 86499147 0.76 [{'connected_gene': 'CHMP3', 'score': 6.48}, {'connected_gene': 'ENSG00000273080', 'score': 4.36}, {'connected_gene': 'GC02P086487', 'score': 0.39}, {'connected_gene': 'GC02M086516', 'score': 0.37}, {'connected_gene': 'RNU6-640P', 'score': 0.37}]
chr2 GH02I086562 86562192 86564226 2.1 [{'connected_gene': 'CHMP3', 'score': 563.72}, {'connected_gene': 'LOC105374845', 'score': 562.49}, {'connected_gene': 'LOC102724642', 'score': 16.53}, {'connected_gene': 'LOC100420889', 'score': 15.84}, {'connected_gene': 'SNORD94', 'score': 14.71}, {'connected_gene': 'ENSG00000231259', 'score': 14.55}, {'connected_gene': 'C2orf68', 'score': 11.04}, {'connected_gene': 'USP39', 'score': 10.43}, {'connected_gene': 'MRPL35', 'score': 5.63}, {'connected_gene': 'REEP1', 'score': 4.41}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.1}]
chr2 GH02I085587 85587211 85592442 1.49 [{'connected_gene': 'GGCX', 'score': 24.36}, {'connected_gene': 'VAMP8', 'score': 22.58}, {'connected_gene': 'C2orf68', 'score': 12.07}, {'connected_gene': 'USP39', 'score': 11.95}, {'connected_gene': 'CHMP3', 'score': 4.36}, {'connected_gene': 'VAMP5', 'score': 2.19}, {'connected_gene': 'RNF181', 'score': 0.44}]
chr2 GH02I086215 86215483 86216564 0.69 [{'connected_gene': 'IMMT', 'score': 11.67}, {'connected_gene': 'ENSG00000251974', 'score': 11.52}, {'connected_gene': 'REEP1', 'score': 11.09}, {'connected_gene': 'ENSG00000202537', 'score': 10.51}, {'connected_gene': 'KDM3A', 'score': 10.06}, {'connected_gene': 'POLR1A', 'score': 7.54}, {'connected_gene': 'CHMP3', 'score': 5.85}, {'connected_gene': 'GC02M086172', 'score': 0.44}, {'connected_gene': 'MRPL35', 'score': 0.37}]
chr2 GH02I086494 86494891 86495269 0.26 [{'connected_gene': 'RNU6-640P', 'score': 12.09}, {'connected_gene': 'CHMP3', 'score': 11.95}, {'connected_gene': 'MRPL35', 'score': 4.83}, {'connected_gene': 'RMND5A', 'score': 1.54}, {'connected_gene': 'GC02P086487', 'score': 0.44}, {'connected_gene': 'GC02M086516', 'score': 0.34}, {'connected_gene': 'GC02P086423', 'score': 0.19}]
chr2 GH02I086453 86453958 86454107 0.43 [{'connected_gene': 'RNU6-640P', 'score': 10.69}, {'connected_gene': 'CHMP3', 'score': 10.63}, {'connected_gene': 'MRPL35', 'score': 7.96}, {'connected_gene': 'GC02M086424', 'score': 0.39}, {'connected_gene': 'GC02M086437', 'score': 0.39}, {'connected_gene': 'KDM3A', 'score': 0.39}, {'connected_gene': 'GC02P086423', 'score': 0.29}]
chr2 GH02I085817 85817419 85820129 0.66 [{'connected_gene': 'RN7SKP83', 'score': 550.77}, {'connected_gene': 'LOC284950', 'score': 5.88}, {'connected_gene': 'CHMP3', 'score': 4.48}]
chr2 GH02I086541 86541458 86541607 0.38 [{'connected_gene': 'LOC105374845', 'score': 0.34}, {'connected_gene': 'CHMP3', 'score': 0.34}, {'connected_gene': 'GC02M086516', 'score': 0.31}, {'connected_gene': 'RNU6-640P', 'score': 0.31}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.1}]
chr2 GH02I086566 86566148 86566652 0.54 [{'connected_gene': 'LOC105374845', 'score': 0.77}, {'connected_gene': 'CHMP3', 'score': 0.77}, {'connected_gene': 'GC02M086575', 'score': 0.37}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.1}]
chr2 GH02I086747 86747437 86748912 0.68 [{'connected_gene': 'RNF103-CHMP3', 'score': 11.92}, {'connected_gene': 'RNF103', 'score': 11.74}, {'connected_gene': 'CHMP3', 'score': 11.06}, {'connected_gene': 'RNU6-640P', 'score': 11.04}, {'connected_gene': 'CD8A', 'score': 7.03}, {'connected_gene': 'RMND5A', 'score': 5.96}, {'connected_gene': 'IMMT', 'score': 4.68}, {'connected_gene': 'GC02M086689', 'score': 0.39}, {'connected_gene': 'LOC105374846', 'score': 0.25}]
chr2 GH02I086671 86671698 86671847 0.71 [{'connected_gene': 'RNF103-CHMP3', 'score': 11.9}, {'connected_gene': 'RNF103', 'score': 11.9}, {'connected_gene': 'CHMP3', 'score': 10.64}, {'connected_gene': 'RNU6-640P', 'score': 10.6}, {'connected_gene': 'GC02P086686', 'score': 0.39}]
chr2 GH02I086583 86583733 86584976 1.02 [{'connected_gene': 'GC02M086575', 'score': 550.77}, {'connected_gene': 'RNF103', 'score': 12.0}, {'connected_gene': 'RNF103-CHMP3', 'score': 11.84}, {'connected_gene': 'LOC105374845', 'score': 0.34}, {'connected_gene': 'CHMP3', 'score': 0.34}]
chr2 GH02I086372 86372998 86373147 0.56 [{'connected_gene': 'ENSG00000202537', 'score': 11.48}, {'connected_gene': 'REEP1', 'score': 11.4}, {'connected_gene': 'KDM3A', 'score': 10.61}, {'connected_gene': 'IMMT', 'score': 10.44}, {'connected_gene': 'MRPL35', 'score': 10.44}, {'connected_gene': 'RNU6-640P', 'score': 9.63}, {'connected_gene': 'CHMP3', 'score': 9.61}, {'connected_gene': 'ENSG00000251974', 'score': 0.44}, {'connected_gene': 'GC02P086411', 'score': 0.28}]
chr2 GH02I086397 86397754 86398426 0.7 [{'connected_gene': 'ENSG00000251974', 'score': 11.25}, {'connected_gene': 'KDM3A', 'score': 11.22}, {'connected_gene': 'ENSG00000202537', 'score': 10.18}, {'connected_gene': 'RNU6-640P', 'score': 10.1}, {'connected_gene': 'CHMP3', 'score': 10.07}, {'connected_gene': 'REEP1', 'score': 9.97}, {'connected_gene': 'POLR1A', 'score': 7.79}, {'connected_gene': 'MRPL35', 'score': 5.25}, {'connected_gene': 'GC02P086411', 'score': 0.39}]
chr2 GH02I086398 86398638 86398787 0.46 [{'connected_gene': 'ENSG00000251974', 'score': 11.25}, {'connected_gene': 'KDM3A', 'score': 11.22}, {'connected_gene': 'ENSG00000202537', 'score': 10.18}, {'connected_gene': 'RNU6-640P', 'score': 10.1}, {'connected_gene': 'CHMP3', 'score': 10.07}, {'connected_gene': 'REEP1', 'score': 9.96}, {'connected_gene': 'POLR1A', 'score': 7.47}, {'connected_gene': 'GC02P086411', 'score': 0.39}]
chr2 GH02I086847 86847225 86848876 0.2 [{'connected_gene': 'ENSG00000231259', 'score': 20.41}, {'connected_gene': 'CHMP3', 'score': 5.94}, {'connected_gene': 'CD8B', 'score': 0.39}, {'connected_gene': 'ANAPC1P1', 'score': 0.39}, {'connected_gene': 'CD8A', 'score': 0.28}]
chr2 GH02I086465 86465992 86471238 0.46 [{'connected_gene': 'GC02M086424', 'score': 550.77}, {'connected_gene': 'CHMP3', 'score': 21.88}, {'connected_gene': 'KDM3A', 'score': 11.38}, {'connected_gene': 'RNU6-640P', 'score': 11.36}, {'connected_gene': 'RNF103', 'score': 10.27}, {'connected_gene': 'RNF103-CHMP3', 'score': 10.24}, {'connected_gene': 'MRPL35', 'score': 5.78}, {'connected_gene': 'GC02P086487', 'score': 0.37}, {'connected_gene': 'GC02P086423', 'score': 0.25}]
chr2 GH02I086480 86480665 86490256 0.43 [{'connected_gene': 'GC02P086487', 'score': 550.77}, {'connected_gene': 'CHMP3', 'score': 22.74}, {'connected_gene': 'RNU6-640P', 'score': 11.44}, {'connected_gene': 'MRPL35', 'score': 7.96}, {'connected_gene': 'PLGLB1', 'score': 4.59}, {'connected_gene': 'REEP1', 'score': 4.46}, {'connected_gene': 'GC02M086424', 'score': 0.37}, {'connected_gene': 'KDM3A', 'score': 0.26}, {'connected_gene': 'GC02P086423', 'score': 0.21}]

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