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
ENST00000320954 [[33155470, 33156040], [33161835, 33161985], [33165899, 33166071], [33171430, 33171559], [33174046, 33174192], [33175673, 33175757], [33183886, 33189265]] [[33155569, 33156040], [33161835, 33161985], [33165899, 33166071], [33171430, 33171559], [33174046, 33174192], [33175673, 33175757], [33183886, 33183940]]
ENST00000449224 [[33155545, 33156040], [33161835, 33161985], [33165899, 33166071], [33174046, 33174192], [33175673, 33175757], [33183886, 33184650]] [[33155569, 33156040], [33161835, 33161985], [33165899, 33166071], [33174046, 33174192], [33175673, 33175757], [33183886, 33183940]]
ENST00000485310 [[33156766, 33156831], [33161835, 33161985], [33165899, 33166071], [33171430, 33171559], [33174046, 33174092]] None
NM_006371 [[33155449, 33156040], [33161835, 33161985], [33165899, 33166071], [33171430, 33171559], [33174046, 33174192], [33175673, 33175757], [33183886, 33189265]] [[33155569, 33156040], [33161835, 33161985], [33165899, 33166071], [33171430, 33171559], [33174046, 33174192], [33175673, 33175757], [33183886, 33183940]]
Promoter
Chrom Start End Description
chr3 33155444 33155492 CAGE_peak_2_at_CRTAP_5end
chr3 33155500 33155519 CAGE_peak_3_at_CRTAP_5end
chr3 33155525 33155561 CAGE_peak_1_at_CRTAP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I033385 33385019 33386992 0.78 [{'connected_gene': 'UBP1', 'score': 17.1}, {'connected_gene': 'FBXL2', 'score': 12.13}, {'connected_gene': 'CRTAP', 'score': 10.57}, {'connected_gene': 'SUSD5', 'score': 10.04}, {'connected_gene': 'CLASP2', 'score': 9.54}, {'connected_gene': 'TMPPE', 'score': 4.96}, {'connected_gene': 'RNU7-110P', 'score': 0.31}]
chr3 GH03I033377 33377611 33378486 0.43 [{'connected_gene': 'UBP1', 'score': 18.84}, {'connected_gene': 'CRTAP', 'score': 10.58}, {'connected_gene': 'SUSD5', 'score': 10.04}, {'connected_gene': 'CLASP2', 'score': 9.46}, {'connected_gene': 'RNU7-110P', 'score': 0.28}, {'connected_gene': 'FBXL2', 'score': 0.15}]
chr3 GH03I033054 33054133 33055837 1.34 [{'connected_gene': 'TMPPE', 'score': 11.29}, {'connected_gene': 'GLB1', 'score': 11.29}, {'connected_gene': 'SUGT1P2', 'score': 10.58}, {'connected_gene': 'CNOT10-AS1', 'score': 10.58}, {'connected_gene': 'CNOT10', 'score': 10.58}, {'connected_gene': 'CRTAP', 'score': 8.7}, {'connected_gene': 'SUMO2P10', 'score': 0.34}, {'connected_gene': 'SEC13P1', 'score': 0.34}]
chr3 GH03I033131 33131309 33132250 0.85 [{'connected_gene': 'TMPPE', 'score': 11.32}, {'connected_gene': 'GLB1', 'score': 11.32}, {'connected_gene': 'SUSD5', 'score': 10.69}, {'connected_gene': 'CLASP2', 'score': 9.53}, {'connected_gene': 'PIR55934', 'score': 0.39}, {'connected_gene': 'CRTAP', 'score': 0.37}, {'connected_gene': 'GC03P033114', 'score': 0.37}]
chr3 GH03I033124 33124320 33124886 0.2 [{'connected_gene': 'TMPPE', 'score': 11.25}, {'connected_gene': 'GLB1', 'score': 11.25}, {'connected_gene': 'SUSD5', 'score': 10.68}, {'connected_gene': 'CRTAP', 'score': 5.87}, {'connected_gene': 'GC03P033114', 'score': 0.39}, {'connected_gene': 'PIR55934', 'score': 0.37}]
chr3 GH03I033130 33130040 33130437 0.2 [{'connected_gene': 'TMPPE', 'score': 11.24}, {'connected_gene': 'GLB1', 'score': 11.24}, {'connected_gene': 'SUSD5', 'score': 10.69}, {'connected_gene': 'CRTAP', 'score': 4.57}, {'connected_gene': 'PIR55934', 'score': 0.39}, {'connected_gene': 'GC03P033114', 'score': 0.37}]
chr3 GH03I033074 33074569 33074718 0.74 [{'connected_gene': 'TMPPE', 'score': 11.96}, {'connected_gene': 'GLB1', 'score': 11.96}, {'connected_gene': 'CRTAP', 'score': 10.97}, {'connected_gene': 'SUGT1P2', 'score': 10.46}, {'connected_gene': 'CNOT10-AS1', 'score': 10.46}, {'connected_gene': 'CNOT10', 'score': 10.46}, {'connected_gene': 'SUMO2P10', 'score': 0.77}, {'connected_gene': 'SEC13P1', 'score': 0.26}]
chr3 GH03I033067 33067569 33067678 0.83 [{'connected_gene': 'TMPPE', 'score': 10.87}, {'connected_gene': 'GLB1', 'score': 10.87}, {'connected_gene': 'CRTAP', 'score': 10.34}, {'connected_gene': 'SUMO2P10', 'score': 0.44}, {'connected_gene': 'SEC13P1', 'score': 0.29}]
chr3 GH03I033119 33119507 33120308 0.2 [{'connected_gene': 'TMPPE', 'score': 11.59}, {'connected_gene': 'GLB1', 'score': 11.59}, {'connected_gene': 'CRTAP', 'score': 7.73}, {'connected_gene': 'GC03P033114', 'score': 0.44}, {'connected_gene': 'PIR55934', 'score': 0.34}]
chr3 GH03I033118 33118432 33119191 0.31 [{'connected_gene': 'TMPPE', 'score': 11.59}, {'connected_gene': 'GLB1', 'score': 11.59}, {'connected_gene': 'CRTAP', 'score': 6.25}, {'connected_gene': 'GC03P033114', 'score': 0.77}, {'connected_gene': 'PIR55934', 'score': 0.31}]
chr3 GH03I033019 33019303 33019636 0.39 [{'connected_gene': 'CCR4', 'score': 22.02}, {'connected_gene': 'SUGT1P2', 'score': 10.78}, {'connected_gene': 'CNOT10-AS1', 'score': 10.77}, {'connected_gene': 'CNOT10', 'score': 10.77}, {'connected_gene': 'TMPPE', 'score': 10.57}, {'connected_gene': 'GLB1', 'score': 10.57}, {'connected_gene': 'CRTAP', 'score': 4.31}, {'connected_gene': 'SEC13P1', 'score': 0.39}, {'connected_gene': 'LOC105377022', 'score': 0.26}]
chr3 GH03I033044 33044587 33044934 0.78 [{'connected_gene': 'CCR4', 'score': 18.48}, {'connected_gene': 'TMPPE', 'score': 10.55}, {'connected_gene': 'GLB1', 'score': 10.55}, {'connected_gene': 'CRTAP', 'score': 5.28}, {'connected_gene': 'SEC13P1', 'score': 0.39}, {'connected_gene': 'SUMO2P10', 'score': 0.29}]
chr3 GH03I033095 33095512 33098564 2.05 [{'connected_gene': 'GLB1', 'score': 557.27}, {'connected_gene': 'TMPPE', 'score': 550.77}, {'connected_gene': 'CNOT10', 'score': 10.51}, {'connected_gene': 'CRTAP', 'score': 8.62}, {'connected_gene': 'GC03P033091', 'score': 0.44}, {'connected_gene': 'GC03M033097', 'score': 0.39}]
chr3 GH03I033061 33061964 33064023 0.66 [{'connected_gene': 'GLB1', 'score': 20.16}, {'connected_gene': 'CRTAP', 'score': 18.54}, {'connected_gene': 'TMPPE', 'score': 10.98}, {'connected_gene': 'SUGT1P2', 'score': 10.51}, {'connected_gene': 'CNOT10-AS1', 'score': 10.51}, {'connected_gene': 'CNOT10', 'score': 10.5}, {'connected_gene': 'SUMO2P10', 'score': 0.39}, {'connected_gene': 'SEC13P1', 'score': 0.31}]
chr3 GH03I033060 33060104 33061378 0.4 [{'connected_gene': 'GLB1', 'score': 22.21}, {'connected_gene': 'CRTAP', 'score': 19.85}, {'connected_gene': 'TMPPE', 'score': 11.24}, {'connected_gene': 'SUGT1P2', 'score': 10.51}, {'connected_gene': 'CNOT10-AS1', 'score': 10.51}, {'connected_gene': 'CNOT10', 'score': 10.5}, {'connected_gene': 'SUMO2P10', 'score': 0.37}, {'connected_gene': 'SEC13P1', 'score': 0.31}]
chr3 GH03I033086 33086707 33086766 0.68 [{'connected_gene': 'GLB1', 'score': 550.39}, {'connected_gene': 'CRTAP', 'score': 10.8}, {'connected_gene': 'GC03P033091', 'score': 0.77}, {'connected_gene': 'SUMO2P10', 'score': 0.44}]
chr3 GH03I033111 33111001 33111800 0.56 [{'connected_gene': 'GLB1', 'score': 10.57}, {'connected_gene': 'CRTAP', 'score': 9.07}, {'connected_gene': 'GC03M033097', 'score': 0.77}]
chr3 GH03I033158 33158034 33160743 0.31 [{'connected_gene': 'SUSD5', 'score': 16.27}, {'connected_gene': 'CRTAP', 'score': 15.71}, {'connected_gene': 'TMPPE', 'score': 10.32}, {'connected_gene': 'GLB1', 'score': 10.32}, {'connected_gene': 'PIR50801', 'score': 0.44}, {'connected_gene': 'ENSG00000230119', 'score': 0.29}]
chr3 GH03I033167 33167226 33168294 0.38 [{'connected_gene': 'SUSD5', 'score': 11.03}, {'connected_gene': 'CRTAP', 'score': 4.61}, {'connected_gene': 'PIR50801', 'score': 0.39}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033169 33169398 33170090 0.2 [{'connected_gene': 'SUSD5', 'score': 11.04}, {'connected_gene': 'CRTAP', 'score': 4.65}, {'connected_gene': 'PIR50801', 'score': 0.37}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033166 33166286 33167024 0.2 [{'connected_gene': 'SUSD5', 'score': 10.77}, {'connected_gene': 'CRTAP', 'score': 10.56}, {'connected_gene': 'PIR50801', 'score': 0.39}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033156 33156869 33158015 0.31 [{'connected_gene': 'SUSD5', 'score': 15.25}, {'connected_gene': 'CRTAP', 'score': 5.25}, {'connected_gene': 'PIR50801', 'score': 0.77}, {'connected_gene': 'ENSG00000230119', 'score': 0.29}]
chr3 GH03I033171 33171550 33172776 0.52 [{'connected_gene': 'SUSD5', 'score': 11.53}, {'connected_gene': 'CRTAP', 'score': 4.64}, {'connected_gene': 'PIR50801', 'score': 0.37}, {'connected_gene': 'ENSG00000230119', 'score': 0.37}]
chr3 GH03I033170 33170116 33171031 0.31 [{'connected_gene': 'SUSD5', 'score': 11.04}, {'connected_gene': 'CRTAP', 'score': 4.63}, {'connected_gene': 'PIR50801', 'score': 0.37}, {'connected_gene': 'ENSG00000230119', 'score': 0.37}]
chr3 GH03I033165 33165744 33166263 0.2 [{'connected_gene': 'SUSD5', 'score': 10.77}, {'connected_gene': 'CRTAP', 'score': 10.56}, {'connected_gene': 'PIR50801', 'score': 0.39}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033173 33173031 33175439 0.38 [{'connected_gene': 'SUSD5', 'score': 16.35}, {'connected_gene': 'CRTAP', 'score': 4.62}, {'connected_gene': 'ENSG00000230119', 'score': 0.37}, {'connected_gene': 'PIR50801', 'score': 0.34}]
chr3 GH03I033168 33168367 33169350 0.2 [{'connected_gene': 'SUSD5', 'score': 11.03}, {'connected_gene': 'CRTAP', 'score': 5.09}, {'connected_gene': 'PIR50801', 'score': 0.37}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033218 33218358 33219400 1.78 [{'connected_gene': 'SUSD5', 'score': 567.59}, {'connected_gene': 'CRTAP', 'score': 4.77}, {'connected_gene': 'PIR48292', 'score': 0.77}]
chr3 GH03I033113 33113167 33116246 2.06 [{'connected_gene': 'CRTAP', 'score': 564.86}, {'connected_gene': 'GC03P033114', 'score': 550.77}, {'connected_gene': 'CNOT10', 'score': 31.91}, {'connected_gene': 'PDCD6IP', 'score': 25.19}, {'connected_gene': 'GLB1', 'score': 21.05}, {'connected_gene': 'UBP1', 'score': 11.49}, {'connected_gene': 'PIR55934', 'score': 0.31}]
chr3 GH03I033032 33032169 33033646 0.67 [{'connected_gene': 'SEC13P1', 'score': 550.77}, {'connected_gene': 'TMPPE', 'score': 10.51}, {'connected_gene': 'GLB1', 'score': 10.51}, {'connected_gene': 'SUGT1P2', 'score': 9.34}, {'connected_gene': 'CNOT10-AS1', 'score': 9.34}, {'connected_gene': 'CNOT10', 'score': 9.33}, {'connected_gene': 'SUSD5', 'score': 9.05}, {'connected_gene': 'CRTAP', 'score': 5.1}, {'connected_gene': 'LOC105377022', 'score': 0.22}]
chr3 GH03I033022 33022809 33024110 0.38 [{'connected_gene': 'SEC13P1', 'score': 6.21}, {'connected_gene': 'CRTAP', 'score': 5.2}, {'connected_gene': 'LOC105377022', 'score': 0.25}, {'connected_gene': 'GLB1', 'score': 0.19}]
chr3 GH03I033149 33149282 33149964 0.58 [{'connected_gene': 'ENSG00000272149', 'score': 550.77}, {'connected_gene': 'SUSD5', 'score': 10.74}, {'connected_gene': 'CRTAP', 'score': 7.25}, {'connected_gene': 'ENSG00000271324', 'score': 4.42}, {'connected_gene': 'PIR50801', 'score': 0.77}]
chr3 GH03I033152 33152319 33154079 0.49 [{'connected_gene': 'PIR50801', 'score': 550.77}, {'connected_gene': 'SUSD5', 'score': 11.05}, {'connected_gene': 'CRTAP', 'score': 7.47}, {'connected_gene': 'ENSG00000272149', 'score': 0.44}]
chr3 GH03I033089 33089192 33090298 0.77 [{'connected_gene': 'GC03P033091', 'score': 550.77}, {'connected_gene': 'CRTAP', 'score': 9.46}, {'connected_gene': 'GLB1', 'score': 8.51}, {'connected_gene': 'SUMO2P10', 'score': 0.39}]
chr3 GH03I033141 33141484 33142594 0.2 [{'connected_gene': 'PIR55934', 'score': 550.77}, {'connected_gene': 'CRTAP', 'score': 11.12}, {'connected_gene': 'SUSD5', 'score': 10.71}, {'connected_gene': 'GC03P033114', 'score': 0.31}]
chr3 GH03I032902 32902401 32903450 0.87 [{'connected_gene': 'GC03M032797', 'score': 550.77}, {'connected_gene': 'CRTAP', 'score': 4.26}, {'connected_gene': 'GC03P032897', 'score': 0.44}]
chr3 GH03I033146 33146503 33147777 0.99 [{'connected_gene': 'GC03P033145', 'score': 550.77}, {'connected_gene': 'ENSG00000272149', 'score': 550.77}, {'connected_gene': 'CRTAP', 'score': 0.29}]