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
ENST00000456996 [[87011728, 87013094], [87015652, 87015683], [87016762, 87016873], [87017450, 87017804], [87017899, 87018218], [87028633, 87028780], [87034569, 87034905], [87035241, 87035519]] [[87013042, 87013094], [87015652, 87015683], [87016762, 87016873], [87017450, 87017804], [87017899, 87017948]]
ENST00000409511 [[87011733, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87018218], [87028633, 87028780], [87034569, 87034905], [87035241, 87035519]] [[87013042, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87017948]]
ENST00000352580 [[87011732, 87013094], [87015652, 87015683], [87016762, 87016873], [87017450, 87017804], [87017899, 87018018]] [[87013042, 87013094], [87015652, 87015683], [87016762, 87016873], [87017450, 87017804], [87017899, 87017948]]
ENST00000283635 [[87011732, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87018803]] [[87013042, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87017948]]
ENST00000538832 [[87012961, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87018218], [87018632, 87018803]] [[87013042, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87018071]]
ENST00000409781 [[87013042, 87013094], [87015652, 87015683], [87016445, 87016556], [87017450, 87017804], [87017899, 87017948]] [[87013042, 87013094], [87015652, 87015683], [87016445, 87016556], [87017450, 87017804], [87017899, 87017948]]
NM_001145873 [[87011727, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87018218], [87028633, 87028780], [87034569, 87034905], [87035241, 87035519]] [[87013042, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87017948]]
NM_001768 [[87011727, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87018837]] [[87013042, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87017948]]
NM_171827 [[87011727, 87013094], [87015652, 87015683], [87016762, 87016873], [87017450, 87017804], [87017899, 87018837]] [[87013042, 87013094], [87015652, 87015683], [87016762, 87016873], [87017450, 87017804], [87017899, 87017948]]
NR_027353 [[87011727, 87013094], [87015652, 87015683], [87016445, 87016556], [87016762, 87016873], [87017450, 87017804], [87017899, 87018218], [87018632, 87018837]] None
Promoter
Chrom Start End Description
chr2 87017971 87017982 CAGE_peak_4_at_CD8A_5end
chr2 87017985 87018050 CAGE_peak_1_at_CD8A_5end
chr2 87018060 87018074 CAGE_peak_2_at_CD8A_5end
chr2 87018281 87018294 CAGE_peak_5_at_CD8A_5end
chr2 87018380 87018390 CAGE_peak_6_at_CD8A_5end
chr2 87018470 87018477 CAGE_peak_7_at_CD8A_5end
chr2 87018784 87018809 CAGE_peak_3_at_CD8A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I086828 86828443 86829123 0.2 [{'connected_gene': 'CD8B', 'score': 5.11}, {'connected_gene': 'CD8A', 'score': 0.34}, {'connected_gene': 'ANAPC1P1', 'score': 0.29}]
chr2 GH02I086829 86829266 86830089 0.31 [{'connected_gene': 'CD8B', 'score': 5.11}, {'connected_gene': 'PLGLB1', 'score': 4.98}, {'connected_gene': 'CD8A', 'score': 4.79}, {'connected_gene': 'ENSG00000231259', 'score': 4.14}, {'connected_gene': 'ANAPC1P1', 'score': 0.29}]
chr2 GH02I086854 86854015 86854922 0.2 [{'connected_gene': 'CD8B', 'score': 0.44}, {'connected_gene': 'ANAPC1P1', 'score': 0.44}, {'connected_gene': 'CD8A', 'score': 0.25}]
chr2 GH02I086844 86844715 86845455 0.2 [{'connected_gene': 'CD8B', 'score': 0.37}, {'connected_gene': 'ANAPC1P1', 'score': 0.37}, {'connected_gene': 'CD8A', 'score': 0.28}]
chr2 GH02I086848 86848881 86849867 0.2 [{'connected_gene': 'CD8B', 'score': 0.39}, {'connected_gene': 'ANAPC1P1', 'score': 0.39}, {'connected_gene': 'CD8A', 'score': 0.26}]
chr2 GH02I086842 86842378 86843109 0.4 [{'connected_gene': 'CD8B', 'score': 0.37}, {'connected_gene': 'ANAPC1P1', 'score': 0.37}, {'connected_gene': 'CD8A', 'score': 0.29}]
chr2 GH02I086856 86856001 86856400 0.69 [{'connected_gene': 'CD8B', 'score': 0.44}, {'connected_gene': 'ANAPC1P1', 'score': 0.44}, {'connected_gene': 'CD8A', 'score': 0.25}]
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 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 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 GH02I086772 86772365 86776328 0.2 [{'connected_gene': 'CD8A', 'score': 7.56}, {'connected_gene': 'RMND5A', 'score': 6.5}, {'connected_gene': 'LOC105374846', 'score': 0.34}, {'connected_gene': 'GC02M086689', 'score': 0.28}]
chr2 GH02I086741 86741368 86743305 0.31 [{'connected_gene': 'CD8A', 'score': 7.76}, {'connected_gene': 'GC02M086689', 'score': 0.44}, {'connected_gene': 'RMND5A', 'score': 0.34}, {'connected_gene': 'LOC105374846', 'score': 0.23}]
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 GH02I086821 86821394 86822255 0.4 [{'connected_gene': 'CD8A', 'score': 4.4}, {'connected_gene': 'LOC105374846', 'score': 0.31}, {'connected_gene': 'CD8B', 'score': 0.26}, {'connected_gene': 'ANAPC1P1', 'score': 0.26}]
chr2 GH02I086814 86814621 86816692 0.4 [{'connected_gene': 'CD8A', 'score': 0.44}, {'connected_gene': 'LOC105374846', 'score': 0.34}, {'connected_gene': 'CD8B', 'score': 0.25}, {'connected_gene': 'ANAPC1P1', 'score': 0.25}]
chr2 GH02I086819 86819826 86820368 0.4 [{'connected_gene': 'CD8A', 'score': 6.01}, {'connected_gene': 'LOC105374846', 'score': 0.34}, {'connected_gene': 'CD8B', 'score': 0.26}, {'connected_gene': 'ANAPC1P1', 'score': 0.26}]
chr2 GH02I086818 86818857 86819203 0.2 [{'connected_gene': 'CD8A', 'score': 0.39}, {'connected_gene': 'LOC105374846', 'score': 0.34}, {'connected_gene': 'CD8B', 'score': 0.26}, {'connected_gene': 'ANAPC1P1', 'score': 0.26}]
chr2 GH02I086811 86811068 86814574 0.31 [{'connected_gene': 'CD8A', 'score': 5.55}, {'connected_gene': 'LOC105374846', 'score': 0.37}, {'connected_gene': 'ANAPC1P1', 'score': 0.25}]
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 GH02I086187 86187478 86187624 0.51 [{'connected_gene': 'SNORD94', 'score': 11.2}, {'connected_gene': 'KDM3A', 'score': 9.81}, {'connected_gene': 'CD8A', 'score': 4.26}, {'connected_gene': 'IMMT', 'score': 0.44}, {'connected_gene': 'MIR4779', 'score': 0.44}, {'connected_gene': 'ENSG00000200241', 'score': 0.31}, {'connected_gene': 'GC02M086160', 'score': 0.31}, {'connected_gene': 'GC02M086172', 'score': 0.28}]
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 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 GH02I086835 86835756 86838649 0.96 [{'connected_gene': 'PLGLB1', 'score': 7.17}, {'connected_gene': 'LOC730268', 'score': 5.13}, {'connected_gene': 'CD8B', 'score': 0.34}, {'connected_gene': 'ANAPC1P1', 'score': 0.34}, {'connected_gene': 'CD8A', 'score': 0.31}]
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 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 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 GH02I086831 86831191 86833508 0.31 [{'connected_gene': 'ENSG00000231259', 'score': 8.76}, {'connected_gene': 'CD8B', 'score': 5.14}, {'connected_gene': 'CD8A', 'score': 0.34}, {'connected_gene': 'ANAPC1P1', 'score': 0.31}]
chr2 GH02I086857 86857622 86860109 0.2 [{'connected_gene': 'ENSG00000231259', 'score': 23.45}, {'connected_gene': 'CD8B', 'score': 0.77}, {'connected_gene': 'ANAPC1P1', 'score': 0.77}, {'connected_gene': 'CD8A', 'score': 0.23}]
chr2 GH02I086845 86845743 86846870 0.2 [{'connected_gene': 'ENSG00000231259', 'score': 15.59}, {'connected_gene': 'CD8B', 'score': 0.37}, {'connected_gene': 'ANAPC1P1', 'score': 0.37}, {'connected_gene': 'CD8A', 'score': 0.28}]
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 GH02I086849 86849876 86853252 0.31 [{'connected_gene': 'ENSG00000231259', 'score': 19.13}, {'connected_gene': 'PLGLB1', 'score': 9.98}, {'connected_gene': 'CD8B', 'score': 0.39}, {'connected_gene': 'ANAPC1P1', 'score': 0.39}, {'connected_gene': 'CD8A', 'score': 0.26}]
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}]