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
ENST00000604011 [[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]]
ENST00000440757 [[86737546, 86737602], [86756340, 86756520], [86769374, 86769435], [86847452, 86847592], [86849783, 86850151]] [[86737546, 86737602], [86756340, 86756520], [86769374, 86769435], [86847452, 86847592], [86849783, 86850009]]
NM_001198954 [[86730552, 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]]
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 GH02I086648 86648656 86650165 0.79 [{'connected_gene': 'CD8A', 'score': 4.48}, {'connected_gene': 'RNF103', 'score': 0.31}, {'connected_gene': 'GC02P086686', 'score': 0.28}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.19}]
chr2 GH02I086728 86728814 86730101 0.2 [{'connected_gene': 'CD8A', 'score': 6.68}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.44}, {'connected_gene': 'RMND5A', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.44}]
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 GH02I086628 86628046 86628476 0.78 [{'connected_gene': 'RNF103', 'score': 0.77}, {'connected_gene': 'GC02P086686', 'score': 0.22}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.16}]
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 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 GH02I086719 86719400 86721875 2.14 [{'connected_gene': 'RMND5A', 'score': 555.44}, {'connected_gene': 'RNF103-CHMP3', 'score': 550.77}, {'connected_gene': 'CD8A', 'score': 5.49}, {'connected_gene': 'ENSG00000231259', 'score': 5.3}, {'connected_gene': 'GC02M086689', 'score': 0.37}]
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 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 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 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 GH02I086732 86732601 86733201 0.31 [{'connected_gene': 'POLR1A', 'score': 4.58}, {'connected_gene': 'GC02M086689', 'score': 0.77}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.39}, {'connected_gene': 'RMND5A', 'score': 0.39}]
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 GH02I086714 86714201 86715799 0.74 [{'connected_gene': 'LOC102724642', 'score': 19.04}, {'connected_gene': 'SNORD94', 'score': 15.7}, {'connected_gene': 'ENSG00000231259', 'score': 15.23}, {'connected_gene': 'LOC100420889', 'score': 13.38}, {'connected_gene': 'LOC730268', 'score': 11.64}, {'connected_gene': 'PTCD3', 'score': 10.8}, {'connected_gene': 'LOC105374845', 'score': 10.22}, {'connected_gene': 'RMND5A', 'score': 7.71}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.34}, {'connected_gene': 'GC02P086686', 'score': 0.31}]
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 GH02I086724 86724001 86724400 0.2 [{'connected_gene': 'RNF103-CHMP3', 'score': 0.77}, {'connected_gene': 'RMND5A', 'score': 0.77}, {'connected_gene': 'GC02M086689', 'score': 0.39}]
chr2 GH02I086727 86727469 86728604 0.2 [{'connected_gene': 'RNF103-CHMP3', 'score': 0.44}, {'connected_gene': 'RMND5A', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.44}]
chr2 GH02I086734 86734401 86735800 0.4 [{'connected_gene': 'GC02M086689', 'score': 550.77}, {'connected_gene': 'CD8A', 'score': 6.14}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.39}, {'connected_gene': 'RMND5A', '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 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 GH02I086703 86703073 86706214 1.26 [{'connected_gene': 'ENSG00000272564', 'score': 4.0}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.37}, {'connected_gene': 'RMND5A', 'score': 0.37}, {'connected_gene': 'GC02P086686', 'score': 0.37}, {'connected_gene': 'GC02M086689', 'score': 0.29}]
chr2 GH02I086733 86733601 86734000 0.2 [{'connected_gene': 'GC02M086689', 'score': 550.77}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.39}, {'connected_gene': 'RMND5A', 'score': 0.39}]