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
ENST00000513146 [[180681416, 180681985], [180687001, 180687195]] None
ENST00000327767 [[180682146, 180684495], [180687001, 180688119]] [[180684414, 180684495], [180687001, 180687814]]
ENST00000510796 [[180683484, 180683860], [180687001, 180687258]] None
ENST00000503005 [[180684009, 180684055], [180687001, 180687325]] None
ENST00000514805 [[180686261, 180686907], [180687001, 180688082]] None
NM_032765 [[180682146, 180684495], [180687001, 180688119]] [[180684414, 180684495], [180687001, 180687814]]
NM_001346050 [[180682146, 180684229], [180687001, 180688119]] [[180684208, 180684229], [180687001, 180687814]]
NM_001346051 [[180682146, 180684055], [180687001, 180688119]] [[180684049, 180684055], [180687001, 180687814]]
NM_001346048 [[180682146, 180683860], [180687001, 180688119]] [[180683809, 180683860], [180687001, 180687814]]
NM_001346049 [[180682146, 180683516], [180687001, 180688119]] [[180683471, 180683516], [180687001, 180687814]]
Promoter
Chrom Start End Description
chr5 180688079 180688104 CAGE_peak_2_at_TRIM52_5end
chr5 180688105 180688162 CAGE_peak_1_at_TRIM52_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I181046 181046265 181046624 0.8 [{'connected_gene': 'TRIM52', 'score': 42.73}, {'connected_gene': 'ENSG00000233937', 'score': 35.06}, {'connected_gene': 'ZFP62', 'score': 26.19}, {'connected_gene': 'CNOT6', 'score': 20.9}, {'connected_gene': 'BTNL9', 'score': 20.1}, {'connected_gene': 'SNORD96A', 'score': 19.3}, {'connected_gene': 'RACK1', 'score': 11.21}, {'connected_gene': 'MGAT1', 'score': 10.97}, {'connected_gene': 'BTNL8', 'score': 7.25}, {'connected_gene': 'BTNL3', 'score': 6.78}, {'connected_gene': 'MIR8089', 'score': 0.77}, {'connected_gene': 'PIR56545', 'score': 0.39}]
chr5 GH05I181258 181258600 181258801 0.68 [{'connected_gene': 'TRIM52', 'score': 0.77}, {'connected_gene': 'RACK1', 'score': 0.39}, {'connected_gene': 'ENSG00000233937', 'score': 0.39}]
chr5 GH05I181202 181202890 181208530 2.31 [{'connected_gene': 'TRIM7', 'score': 579.59}, {'connected_gene': 'ENSG00000248514', 'score': 575.67}, {'connected_gene': 'GC05P181245', 'score': 550.77}, {'connected_gene': 'TRA-TGC3-1', 'score': 550.77}, {'connected_gene': 'PIR42038', 'score': 550.77}, {'connected_gene': 'TRIM52', 'score': 36.1}, {'connected_gene': 'ENSG00000233937', 'score': 25.44}, {'connected_gene': 'ZFP62', 'score': 25.09}, {'connected_gene': 'CNOT6', 'score': 21.77}, {'connected_gene': 'RACK1', 'score': 20.81}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'RASGEF1C', 'score': 11.26}, {'connected_gene': 'ENSG00000248367', 'score': 10.59}, {'connected_gene': 'MGAT1', 'score': 9.82}, {'connected_gene': 'TRIM52-AS1', 'score': 5.69}, {'connected_gene': 'MAPK9', 'score': 4.58}, {'connected_gene': 'TRK-CTT2-2', 'score': 0.77}, {'connected_gene': 'PIR62062', 'score': 0.77}, {'connected_gene': 'PIR58457', 'score': 0.77}, {'connected_gene': 'ENSG00000250900', 'score': 0.39}]
chr5 GH05I181168 181168921 181170800 1.42 [{'connected_gene': 'TRV-AAC1-3', 'score': 550.77}, {'connected_gene': 'ZFP62', 'score': 23.51}, {'connected_gene': 'CNOT6', 'score': 13.54}, {'connected_gene': 'ENSG00000248514', 'score': 13.17}, {'connected_gene': 'TRIM52', 'score': 11.7}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'ENSG00000233937', 'score': 11.26}, {'connected_gene': 'ENSG00000248103', 'score': 10.36}, {'connected_gene': 'RACK1', 'score': 8.27}, {'connected_gene': 'TRV-CAC1-4', 'score': 0.77}]
chr5 GH05I181215 181215869 181219200 1.53 [{'connected_gene': 'TRV-AAC1-4', 'score': 550.77}, {'connected_gene': 'ENSG00000233937', 'score': 77.6}, {'connected_gene': 'RACK1', 'score': 45.24}, {'connected_gene': 'TRIM52', 'score': 40.98}, {'connected_gene': 'TRIM52-AS1', 'score': 30.54}, {'connected_gene': 'ZFP62', 'score': 27.72}, {'connected_gene': 'CNOT6', 'score': 22.53}, {'connected_gene': 'SNORD96A', 'score': 19.56}, {'connected_gene': 'MGAT1', 'score': 19.03}, {'connected_gene': 'TRIM7', 'score': 14.35}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'ENSG00000248367', 'score': 10.59}, {'connected_gene': 'PIR62062', 'score': 0.44}]
chr5 GH05I180859 180859850 180862200 2.06 [{'connected_gene': 'ZFP62', 'score': 580.54}, {'connected_gene': 'ENSG00000233937', 'score': 44.58}, {'connected_gene': 'TRIM52', 'score': 30.31}, {'connected_gene': 'SNORD96A', 'score': 28.14}, {'connected_gene': 'CNOT6', 'score': 27.43}, {'connected_gene': 'MRNIP', 'score': 27.31}, {'connected_gene': 'GFPT2', 'score': 11.26}, {'connected_gene': 'LINC00847', 'score': 5.41}, {'connected_gene': 'GC05P181054', 'score': 0.77}]
chr5 GH05I181133 181133761 181134001 1.03 [{'connected_gene': 'ZFP62', 'score': 16.73}, {'connected_gene': 'TRIM52', 'score': 12.62}, {'connected_gene': 'CNOT6', 'score': 11.46}, {'connected_gene': 'OR2V1', 'score': 0.77}, {'connected_gene': 'OR2V2', 'score': 0.39}]
chr5 GH05I180493 180493273 180497459 2.08 [{'connected_gene': 'CNOT6', 'score': 561.51}, {'connected_gene': 'HNRNPH1', 'score': 38.3}, {'connected_gene': 'MAML1', 'score': 34.94}, {'connected_gene': 'MRNIP', 'score': 33.77}, {'connected_gene': 'ENSG00000233937', 'score': 28.43}, {'connected_gene': 'TRIM52', 'score': 25.22}, {'connected_gene': 'ZFP62', 'score': 17.33}, {'connected_gene': 'RUFY1', 'score': 16.78}, {'connected_gene': 'RACK1', 'score': 15.53}, {'connected_gene': 'LOC100996419', 'score': 12.85}, {'connected_gene': 'ENSG00000248367', 'score': 12.21}, {'connected_gene': 'MAPK9', 'score': 11.67}, {'connected_gene': 'LOC101928445', 'score': 10.05}, {'connected_gene': 'SNORD96A', 'score': 9.97}, {'connected_gene': 'SCGB3A1', 'score': 7.07}, {'connected_gene': 'BTNL3', 'score': 5.92}, {'connected_gene': 'LOC102725231', 'score': 0.31}, {'connected_gene': 'LOC100329129', 'score': 0.28}]
chr5 GH05I181027 181027721 181028610 1.13 [{'connected_gene': 'BTNL3', 'score': 72.14}, {'connected_gene': 'ENSG00000233937', 'score': 24.05}, {'connected_gene': 'MGAT1', 'score': 19.49}, {'connected_gene': 'RACK1', 'score': 13.1}, {'connected_gene': 'TRIM52', 'score': 11.21}, {'connected_gene': 'BTNL8', 'score': 7.03}, {'connected_gene': 'BTNL9', 'score': 0.39}, {'connected_gene': 'RNU6-1036P', 'score': 0.34}]
chr5 GH05I181187 181187000 181193459 2.15 [{'connected_gene': 'LOC105377769', 'score': 550.77}, {'connected_gene': 'TRT-TGT6-1', 'score': 550.77}, {'connected_gene': 'PIR54518', 'score': 550.77}, {'connected_gene': 'TRV-AAC2-1', 'score': 550.77}, {'connected_gene': 'TRP-TGG3-1', 'score': 550.77}, {'connected_gene': 'LINC01962', 'score': 550.77}, {'connected_gene': 'GC05M181234', 'score': 550.77}, {'connected_gene': 'GC05M181233', 'score': 550.77}, {'connected_gene': 'TRIM52', 'score': 41.74}, {'connected_gene': 'ENSG00000233937', 'score': 32.7}, {'connected_gene': 'ZFP62', 'score': 25.92}, {'connected_gene': 'ENSG00000248514', 'score': 23.75}, {'connected_gene': 'CNOT6', 'score': 22.08}, {'connected_gene': 'TRIM7', 'score': 20.26}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'RASGEF1C', 'score': 11.26}, {'connected_gene': 'ENSG00000248367', 'score': 10.59}, {'connected_gene': 'SNORD96A', 'score': 10.3}, {'connected_gene': 'TRIM52-AS1', 'score': 4.21}, {'connected_gene': 'TRIM41', 'score': 2.21}, {'connected_gene': 'TRL-AAG2-1', 'score': 0.77}, {'connected_gene': 'PIR48234', 'score': 0.77}]
chr5 GH05I181259 181259400 181262970 2.1 [{'connected_gene': 'TRIM52-AS1', 'score': 628.69}, {'connected_gene': 'TRIM52', 'score': 562.18}, {'connected_gene': 'RACK1', 'score': 11.77}, {'connected_gene': 'ENSG00000233937', 'score': 11.35}, {'connected_gene': 'SNORD96A', 'score': 10.43}, {'connected_gene': 'CNOT6', 'score': 10.32}]
chr5 GH05I181172 181172801 181174607 1.44 [{'connected_gene': 'TRV-CAC1-4', 'score': 550.77}, {'connected_gene': 'PIR55575', 'score': 550.77}, {'connected_gene': 'TRL-AAG1-3', 'score': 550.77}, {'connected_gene': 'TRIM52', 'score': 37.82}, {'connected_gene': 'ZFP62', 'score': 34.16}, {'connected_gene': 'CNOT6', 'score': 21.96}, {'connected_gene': 'ENSG00000248514', 'score': 18.09}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'ENSG00000233937', 'score': 11.27}, {'connected_gene': 'RASGEF1C', 'score': 11.26}]
chr5 GH05I181163 181163241 181165096 1.28 [{'connected_gene': 'TRL-AAG7-1', 'score': 550.77}, {'connected_gene': 'TRV-AAC1-2', 'score': 550.77}, {'connected_gene': 'ENSG00000233937', 'score': 17.04}, {'connected_gene': 'ZFP62', 'score': 14.43}, {'connected_gene': 'ENSG00000248514', 'score': 13.83}, {'connected_gene': 'TRIM52', 'score': 13.32}, {'connected_gene': 'CNOT6', 'score': 10.77}, {'connected_gene': 'SNORD96A', 'score': 10.13}, {'connected_gene': 'RACK1', 'score': 6.62}, {'connected_gene': 'TRIM7', 'score': 5.1}]
chr5 GH05I181045 181045837 181046231 0.84 [{'connected_gene': 'ENSG00000233937', 'score': 49.47}, {'connected_gene': 'TRIM52', 'score': 42.73}, {'connected_gene': 'ZFP62', 'score': 26.2}, {'connected_gene': 'RACK1', 'score': 24.92}, {'connected_gene': 'CNOT6', 'score': 20.9}, {'connected_gene': 'SNORD96A', 'score': 19.3}, {'connected_gene': 'MGAT1', 'score': 10.97}, {'connected_gene': 'BTNL9', 'score': 3.91}, {'connected_gene': 'MIR8089', 'score': 0.77}, {'connected_gene': 'PIR56545', 'score': 0.39}]
chr5 GH05I181236 181236001 181236010 0.68 [{'connected_gene': 'ENSG00000233937', 'score': 16.29}, {'connected_gene': 'RACK1', 'score': 13.42}, {'connected_gene': 'TRIM52', 'score': 11.45}, {'connected_gene': 'MGAT1', 'score': 9.82}, {'connected_gene': 'ENSG00000247049', 'score': 0.44}, {'connected_gene': 'GC05M181242', 'score': 0.44}]
chr5 GH05I181183 181183201 181185329 1.75 [{'connected_gene': 'ENSG00000233937', 'score': 39.66}, {'connected_gene': 'RACK1', 'score': 19.34}, {'connected_gene': 'ENSG00000248514', 'score': 18.35}, {'connected_gene': 'CNOT6', 'score': 18.34}, {'connected_gene': 'ZFP62', 'score': 15.54}, {'connected_gene': 'TRIM7', 'score': 15.22}, {'connected_gene': 'TRIM52', 'score': 14.42}, {'connected_gene': 'SNORD96A', 'score': 10.29}, {'connected_gene': 'MGAT1', 'score': 1.96}, {'connected_gene': 'TRL-AAG2-1', 'score': 0.77}, {'connected_gene': 'GC05P181179', 'score': 0.44}]
chr5 GH05I181240 181240715 181249682 2.32 [{'connected_gene': 'ENSG00000233937', 'score': 625.6}, {'connected_gene': 'RACK1', 'score': 614.07}, {'connected_gene': 'GC05M181246', 'score': 550.77}, {'connected_gene': 'GC05M181245', 'score': 550.77}, {'connected_gene': 'CTC-338M12.4', 'score': 550.77}, {'connected_gene': 'SNORD95', 'score': 550.77}, {'connected_gene': 'GC05M181244', 'score': 550.77}, {'connected_gene': 'GC05M181247', 'score': 550.77}, {'connected_gene': 'TRIM52-AS1', 'score': 63.54}, {'connected_gene': 'TRIM52', 'score': 23.56}, {'connected_gene': 'MGAT1', 'score': 19.88}, {'connected_gene': 'ENSG00000248367', 'score': 12.15}, {'connected_gene': 'MAPK9', 'score': 11.61}, {'connected_gene': 'GC05M181242', 'score': 0.77}, {'connected_gene': 'SNORD96A', 'score': 0.77}]
chr5 GH05I181221 181221077 181225426 2.36 [{'connected_gene': 'PIR33457', 'score': 550.77}, {'connected_gene': 'MIR4638', 'score': 550.77}, {'connected_gene': 'TRK-CTT2-3', 'score': 550.77}, {'connected_gene': 'PIR62653', 'score': 550.77}, {'connected_gene': 'TRV-CAC1-5', 'score': 550.77}, {'connected_gene': 'TRIM41', 'score': 550.77}, {'connected_gene': 'ENSG00000233937', 'score': 74.78}, {'connected_gene': 'RACK1', 'score': 46.34}, {'connected_gene': 'TRIM52', 'score': 41.75}, {'connected_gene': 'TRIM52-AS1', 'score': 36.83}, {'connected_gene': 'CNOT6', 'score': 22.09}, {'connected_gene': 'ENSG00000248367', 'score': 20.99}, {'connected_gene': 'GFPT2', 'score': 20.88}, {'connected_gene': 'MGAT1', 'score': 18.24}, {'connected_gene': 'ZFP62', 'score': 15.18}, {'connected_gene': 'MAPK9', 'score': 11.61}, {'connected_gene': 'SNORD96A', 'score': 10.43}, {'connected_gene': 'ENSG00000248103', 'score': 10.31}, {'connected_gene': 'TRIM7', 'score': 7.39}, {'connected_gene': 'ENSG00000247049', 'score': 0.44}]
chr5 GH05I181280 181280320 181282476 1.13 [{'connected_gene': 'ENSG00000248103', 'score': 550.77}, {'connected_gene': 'TRIM52-AS1', 'score': 91.21}, {'connected_gene': 'RACK1', 'score': 23.54}, {'connected_gene': 'TRIM52', 'score': 12.55}, {'connected_gene': 'ENSG00000233937', 'score': 11.29}, {'connected_gene': 'ENSG00000247049', 'score': 10.95}, {'connected_gene': 'TRIM41', 'score': 10.94}, {'connected_gene': 'TRIM7', 'score': 10.7}, {'connected_gene': 'ENSG00000250900', 'score': 10.62}, {'connected_gene': 'ENSG00000274525', 'score': 0.39}]