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
ENST00000416695 [[33131912, 33135280], [33138210, 33138293]] [[33134325, 33135276]]
ENST00000342462 [[33131916, 33135795], [33138210, 33138293]] [[33134325, 33135687]]
NM_001039770 [[33131907, 33135795], [33138210, 33138293]] [[33134325, 33135687]]
NM_001136238 [[33131907, 33135280], [33138210, 33138293]] [[33134325, 33135276]]
Promoter
Chrom Start End Description
chr3 33138286 33138319 CAGE_peak_1_at_TMPPE_5end,CAGE_peak_3_at_GLB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I033437 33437191 33442682 2.31 [{'connected_gene': 'UBP1', 'score': 578.92}, {'connected_gene': 'PIR40256', 'score': 550.77}, {'connected_gene': 'CNOT10', 'score': 69.7}, {'connected_gene': 'PDCD6IP', 'score': 44.86}, {'connected_gene': 'FBXL2', 'score': 20.53}, {'connected_gene': 'GLB1', 'score': 20.05}, {'connected_gene': 'TMPPE', 'score': 19.35}, {'connected_gene': 'CMTM6', 'score': 9.75}, {'connected_gene': 'GC03M033417', 'score': 0.39}]
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 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 GH03I032743 32743481 32744500 0.31 [{'connected_gene': 'TMPPE', 'score': 5.1}, {'connected_gene': 'GLB1', 'score': 4.42}, {'connected_gene': 'SUGT1P2', 'score': 0.44}, {'connected_gene': 'CNOT10-AS1', 'score': 0.44}, {'connected_gene': 'CNOT10', 'score': 0.22}]
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 GH03I032963 32963911 32964290 0.58 [{'connected_gene': 'TMPPE', 'score': 10.43}, {'connected_gene': 'GLB1', 'score': 10.43}, {'connected_gene': 'TRIM71', 'score': 9.75}, {'connected_gene': 'CCR4', 'score': 4.01}, {'connected_gene': 'LOC105377022', 'score': 0.39}]
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 GH03I032734 32734785 32735520 0.2 [{'connected_gene': 'TMPPE', 'score': 5.2}, {'connected_gene': 'CNOT10-AS1', 'score': 0.77}, {'connected_gene': 'PIR58788', 'score': 0.29}, {'connected_gene': 'CNOT10', 'score': 0.23}]
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 GH03I032121 32121001 32121200 0.62 [{'connected_gene': 'GLB1', 'score': 12.23}, {'connected_gene': 'TMPPE', 'score': 11.78}, {'connected_gene': 'CNOT10', 'score': 10.96}, {'connected_gene': 'STT3B', 'score': 10.63}, {'connected_gene': 'ENSG00000236732', 'score': 10.21}, {'connected_gene': 'GPD1L', 'score': 6.72}, {'connected_gene': 'GC03M031988', 'score': 0.06}]
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 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 GH03I032832 32832968 32833621 0.96 [{'connected_gene': 'CNOT10', 'score': 53.96}, {'connected_gene': 'UBP1', 'score': 39.88}, {'connected_gene': 'PDCD6IP', 'score': 38.97}, {'connected_gene': 'FBXL2', 'score': 12.45}, {'connected_gene': 'TMPPE', 'score': 11.79}, {'connected_gene': 'GLB1', 'score': 10.3}, {'connected_gene': 'TRIM71', 'score': 0.37}, {'connected_gene': 'PIR32571', 'score': 0.26}, {'connected_gene': 'GC03M032797', 'score': 0.19}]
chr3 GH03I032684 32684049 32687361 2.06 [{'connected_gene': 'CNOT10', 'score': 575.49}, {'connected_gene': 'GLB1', 'score': 24.72}, {'connected_gene': 'TMPPE', 'score': 20.47}, {'connected_gene': 'UBP1', 'score': 11.03}, {'connected_gene': 'DYNC1LI1', 'score': 10.26}, {'connected_gene': 'RPL31P18', 'score': 10.15}, {'connected_gene': 'CMTM6', 'score': 10.15}, {'connected_gene': 'ENSG00000236732', 'score': 9.94}, {'connected_gene': 'TRIM71', 'score': 9.5}, {'connected_gene': 'PIR58788', 'score': 0.37}]
chr3 GH03I032708 32708809 32709639 0.92 [{'connected_gene': 'CNOT10', 'score': 11.53}, {'connected_gene': 'CNOT10-AS1', 'score': 11.5}, {'connected_gene': 'SUGT1P2', 'score': 11.45}, {'connected_gene': 'TRIM71', 'score': 10.34}, {'connected_gene': 'RPL31P18', 'score': 10.0}, {'connected_gene': 'CMTM6', 'score': 10.0}, {'connected_gene': 'TMPPE', 'score': 5.26}, {'connected_gene': 'PIR58788', 'score': 0.77}]
chr3 GH03I032856 32856308 32857300 0.83 [{'connected_gene': 'TRIM71', 'score': 11.76}, {'connected_gene': 'GLB1', 'score': 9.99}, {'connected_gene': 'TMPPE', 'score': 9.99}, {'connected_gene': 'PIR32571', 'score': 0.37}, {'connected_gene': 'GC03M032797', 'score': 0.25}]
chr3 GH03I032847 32847331 32852665 0.87 [{'connected_gene': 'TRIM71', 'score': 12.52}, {'connected_gene': 'CNOT10', 'score': 11.11}, {'connected_gene': 'PDCD6IP', 'score': 10.46}, {'connected_gene': 'TMPPE', 'score': 9.99}, {'connected_gene': 'GLB1', 'score': 9.99}, {'connected_gene': 'PIR32571', 'score': 0.31}, {'connected_gene': 'GC03M032797', 'score': 0.23}]
chr3 GH03I033797 33797494 33801159 2.1 [{'connected_gene': 'PDCD6IP', 'score': 595.17}, {'connected_gene': 'ENSG00000271020', 'score': 550.77}, {'connected_gene': 'LOC105377023', 'score': 550.77}, {'connected_gene': 'GC03M033793', 'score': 550.77}, {'connected_gene': 'GLB1', 'score': 10.71}, {'connected_gene': 'TMPPE', 'score': 10.64}, {'connected_gene': 'CLASP2', 'score': 10.51}, {'connected_gene': 'ENSG00000271324', 'score': 7.75}, {'connected_gene': 'LOC105377024', 'score': 0.18}]
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}]