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
ENST00000476041 [[36856838, 36857205], [36857958, 36858088], [36859366, 36859754], [36863367, 36863488]] None
ENST00000315732 [[36859030, 36859754], [36863367, 36863493]] [[36859358, 36859730]]
ENST00000489912 [[36859614, 36859754], [36863218, 36863479]] None
NM_032881 [[36859020, 36859754], [36863367, 36863560]] [[36859358, 36859730]]
Promoter
Chrom Start End Description
chr1 36863481 36863527 CAGE_peak_1_at_LSM10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I036231 36231694 36231753 0.7 [{'connected_gene': 'THRAP3', 'score': 550.44}, {'connected_gene': 'TRAPPC3', 'score': 11.14}, {'connected_gene': 'MAP7D1', 'score': 11.14}, {'connected_gene': 'COL8A2', 'score': 10.98}, {'connected_gene': 'LSM10', 'score': 10.02}, {'connected_gene': 'RNU4-27P', 'score': 10.01}, {'connected_gene': 'SNORA63C', 'score': 9.9}, {'connected_gene': 'OSCP1', 'score': 9.89}, {'connected_gene': 'UBE2V2P4', 'score': 0.39}]
chr1 GH01I036222 36222062 36226721 2.32 [{'connected_gene': 'THRAP3', 'score': 550.77}, {'connected_gene': 'TRAPPC3', 'score': 11.94}, {'connected_gene': 'MAP7D1', 'score': 11.94}, {'connected_gene': 'COL8A2', 'score': 10.99}, {'connected_gene': 'ADPRHL2', 'score': 10.7}, {'connected_gene': 'LOC100128093', 'score': 10.69}, {'connected_gene': 'TEKT2', 'score': 10.69}, {'connected_gene': 'LSM10', 'score': 10.21}, {'connected_gene': 'RNU4-27P', 'score': 10.01}, {'connected_gene': 'SNORA63C', 'score': 9.9}, {'connected_gene': 'OSCP1', 'score': 9.89}, {'connected_gene': 'ENSG00000116883', 'score': 7.94}, {'connected_gene': 'GC01M036206', 'score': 0.37}]
chr1 GH01I036396 36396264 36398757 2.27 [{'connected_gene': 'LSM10', 'score': 556.61}, {'connected_gene': 'AGO3', 'score': 12.56}, {'connected_gene': 'EVA1B', 'score': 10.2}, {'connected_gene': 'LOC105378647', 'score': 10.07}, {'connected_gene': 'OSCP1', 'score': 10.0}, {'connected_gene': 'COL8A2', 'score': 9.88}, {'connected_gene': 'STK40', 'score': 0.39}]
chr1 GH01I036384 36384249 36392017 2.33 [{'connected_gene': 'STK40', 'score': 556.91}, {'connected_gene': 'EVA1B', 'score': 37.82}, {'connected_gene': 'THRAP3', 'score': 30.35}, {'connected_gene': 'LOC105378647', 'score': 27.8}, {'connected_gene': 'TRAPPC3', 'score': 21.85}, {'connected_gene': 'AGO3', 'score': 21.83}, {'connected_gene': 'ENSG00000116883', 'score': 17.38}, {'connected_gene': 'SH3D21', 'score': 16.86}, {'connected_gene': 'SNORA63C', 'score': 11.53}, {'connected_gene': 'OSCP1', 'score': 11.45}, {'connected_gene': 'COL8A2', 'score': 9.88}, {'connected_gene': 'LSM10', 'score': 0.44}]
chr1 GH01I036299 36299384 36308182 2.48 [{'connected_gene': 'SH3D21', 'score': 558.66}, {'connected_gene': 'STK40', 'score': 13.0}, {'connected_gene': 'SNORA63C', 'score': 11.09}, {'connected_gene': 'OSCP1', 'score': 11.06}, {'connected_gene': 'TRAPPC3', 'score': 10.92}, {'connected_gene': 'MAP7D1', 'score': 10.92}, {'connected_gene': 'LSM10', 'score': 10.9}, {'connected_gene': 'RNU4-27P', 'score': 10.89}, {'connected_gene': 'LOC100128093', 'score': 10.33}, {'connected_gene': 'TEKT2', 'score': 10.33}, {'connected_gene': 'ADPRHL2', 'score': 10.33}, {'connected_gene': 'AGO3', 'score': 10.11}, {'connected_gene': 'EVA1B', 'score': 9.6}, {'connected_gene': 'ENSG00000116883', 'score': 7.93}, {'connected_gene': 'THRAP3', 'score': 7.08}, {'connected_gene': 'UBE2V2P4', 'score': 0.21}]
chr1 GH01I036169 36169608 36179686 1.37 [{'connected_gene': 'MAP7D1', 'score': 30.7}, {'connected_gene': 'ENSG00000116883', 'score': 19.21}, {'connected_gene': 'COL8A2', 'score': 11.3}, {'connected_gene': 'ADPRHL2', 'score': 10.77}, {'connected_gene': 'LOC100128093', 'score': 10.76}, {'connected_gene': 'TEKT2', 'score': 10.76}, {'connected_gene': 'SH3D21', 'score': 10.7}, {'connected_gene': 'EVA1B', 'score': 10.7}, {'connected_gene': 'RNU4-27P', 'score': 10.32}, {'connected_gene': 'LSM10', 'score': 10.32}, {'connected_gene': 'SNORA63C', 'score': 9.81}, {'connected_gene': 'OSCP1', 'score': 9.81}, {'connected_gene': 'TRAPPC3', 'score': 0.37}, {'connected_gene': 'RN7SL131P', 'score': 0.37}]
chr1 GH01I036290 36290455 36291989 0.31 [{'connected_gene': 'EVA1B', 'score': 15.62}, {'connected_gene': 'ENSG00000116883', 'score': 11.66}, {'connected_gene': 'SNORA63C', 'score': 10.61}, {'connected_gene': 'OSCP1', 'score': 10.58}, {'connected_gene': 'LSM10', 'score': 10.02}, {'connected_gene': 'SH3D21', 'score': 0.39}, {'connected_gene': 'UBE2V2P4', 'score': 0.25}, {'connected_gene': 'THRAP3', 'score': 0.2}]
chr1 GH01I036133 36133341 36138173 1.26 [{'connected_gene': 'TRAPPC3', 'score': 30.16}, {'connected_gene': 'MAP7D1', 'score': 22.17}, {'connected_gene': 'ZMYM4', 'score': 16.16}, {'connected_gene': 'AGO3', 'score': 12.81}, {'connected_gene': 'SFPQ', 'score': 12.53}, {'connected_gene': 'ADPRHL2', 'score': 11.54}, {'connected_gene': 'TEKT2', 'score': 11.52}, {'connected_gene': 'LOC100128093', 'score': 11.52}, {'connected_gene': 'LSM10', 'score': 10.37}, {'connected_gene': 'COL8A2', 'score': 0.44}]
chr1 GH01I036285 36285520 36285729 0.9 [{'connected_gene': 'TRAPPC3', 'score': 12.12}, {'connected_gene': 'MAP7D1', 'score': 12.11}, {'connected_gene': 'LSM10', 'score': 10.58}, {'connected_gene': 'ADPRHL2', 'score': 10.35}, {'connected_gene': 'LOC100128093', 'score': 10.35}, {'connected_gene': 'TEKT2', 'score': 10.35}, {'connected_gene': 'ENSG00000116883', 'score': 7.32}, {'connected_gene': 'SH3D21', 'score': 0.34}, {'connected_gene': 'UBE2V2P4', 'score': 0.26}, {'connected_gene': 'THRAP3', 'score': 0.21}]
chr1 GH01I036281 36281583 36282075 0.31 [{'connected_gene': 'TRAPPC3', 'score': 11.46}, {'connected_gene': 'MAP7D1', 'score': 11.46}, {'connected_gene': 'SH3D21', 'score': 10.97}, {'connected_gene': 'ENSG00000116883', 'score': 10.89}, {'connected_gene': 'EVA1B', 'score': 10.89}, {'connected_gene': 'COL8A2', 'score': 10.43}, {'connected_gene': 'LSM10', 'score': 9.96}, {'connected_gene': 'RNU4-27P', 'score': 9.95}, {'connected_gene': 'SNORA63C', 'score': 9.84}, {'connected_gene': 'OSCP1', 'score': 9.82}, {'connected_gene': 'UBE2V2P4', 'score': 0.28}, {'connected_gene': 'THRAP3', 'score': 0.22}]
chr1 GH01I036232 36231260 36231409 0.4 [{'connected_gene': 'TRAPPC3', 'score': 11.14}, {'connected_gene': 'MAP7D1', 'score': 11.14}, {'connected_gene': 'COL8A2', 'score': 10.98}, {'connected_gene': 'LSM10', 'score': 10.02}, {'connected_gene': 'RNU4-27P', 'score': 10.01}, {'connected_gene': 'SNORA63C', 'score': 9.9}, {'connected_gene': 'OSCP1', 'score': 9.89}, {'connected_gene': 'THRAP3', 'score': 0.44}, {'connected_gene': 'UBE2V2P4', 'score': 0.39}]
chr1 GH01I036233 36233450 36234466 0.31 [{'connected_gene': 'TRAPPC3', 'score': 11.14}, {'connected_gene': 'MAP7D1', 'score': 11.14}, {'connected_gene': 'COL8A2', 'score': 10.98}, {'connected_gene': 'RNU4-27P', 'score': 10.02}, {'connected_gene': 'LSM10', 'score': 10.01}, {'connected_gene': 'SNORA63C', 'score': 9.9}, {'connected_gene': 'OSCP1', 'score': 9.89}, {'connected_gene': 'UBE2V2P4', 'score': 0.44}, {'connected_gene': 'THRAP3', 'score': 0.44}]
chr1 GH01I036370 36370802 36381358 1.82 [{'connected_gene': 'CSF3R', 'score': 36.49}, {'connected_gene': 'STK40', 'score': 25.95}, {'connected_gene': 'AGO3', 'score': 14.24}, {'connected_gene': 'LSM10', 'score': 13.02}, {'connected_gene': 'RNU4-27P', 'score': 11.67}, {'connected_gene': 'SNORA63C', 'score': 11.64}, {'connected_gene': 'OSCP1', 'score': 11.57}, {'connected_gene': 'ENSG00000223944', 'score': 10.98}, {'connected_gene': 'EVA1B', 'score': 10.24}, {'connected_gene': 'LOC105378647', 'score': 10.08}, {'connected_gene': 'AGO1', 'score': 8.65}, {'connected_gene': 'ENSG00000116883', 'score': 8.38}, {'connected_gene': 'THRAP3', 'score': 8.37}, {'connected_gene': 'SH3D21', 'score': 7.0}, {'connected_gene': 'MAP7D1', 'score': 5.66}, {'connected_gene': 'PIR50342', 'score': 0.34}]
chr1 GH01I036358 36358882 36360997 1.06 [{'connected_gene': 'CSF3R', 'score': 33.53}, {'connected_gene': 'SH3D21', 'score': 13.27}, {'connected_gene': 'ENSG00000116883', 'score': 12.22}, {'connected_gene': 'EVA1B', 'score': 12.22}, {'connected_gene': 'SNORA63C', 'score': 11.88}, {'connected_gene': 'OSCP1', 'score': 11.82}, {'connected_gene': 'LSM10', 'score': 11.37}, {'connected_gene': 'RNU4-27P', 'score': 11.36}, {'connected_gene': 'THRAP3', 'score': 10.17}, {'connected_gene': 'STK40', 'score': 6.57}, {'connected_gene': 'AGO3', 'score': 6.53}, {'connected_gene': 'MAP7D1', 'score': 5.29}, {'connected_gene': 'AGO1', 'score': 4.01}, {'connected_gene': 'PIR50342', 'score': 0.44}]
chr1 GH01I036159 36159275 36168121 2.24 [{'connected_gene': 'CSF3R', 'score': 37.96}, {'connected_gene': 'MAP7D1', 'score': 33.63}, {'connected_gene': 'THRAP3', 'score': 31.67}, {'connected_gene': 'AGO4', 'score': 22.13}, {'connected_gene': 'SFPQ', 'score': 17.2}, {'connected_gene': 'STK40', 'score': 13.36}, {'connected_gene': 'RPL5P4', 'score': 13.34}, {'connected_gene': 'LOC105378647', 'score': 12.22}, {'connected_gene': 'COL8A2', 'score': 11.31}, {'connected_gene': 'EVA1B', 'score': 11.2}, {'connected_gene': 'AGO3', 'score': 11.17}, {'connected_gene': 'AGO1', 'score': 6.15}, {'connected_gene': 'TRAPPC3', 'score': 5.08}, {'connected_gene': 'SH3D21', 'score': 2.67}, {'connected_gene': 'LSM10', 'score': 1.47}, {'connected_gene': 'ADPRHL2', 'score': 1.34}, {'connected_gene': 'RN7SL131P', 'score': 0.31}]
chr1 GH01I036484 36484954 36489119 1.44 [{'connected_gene': 'CSF3R', 'score': 46.65}, {'connected_gene': 'OSCP1', 'score': 15.51}, {'connected_gene': 'MRPS15', 'score': 12.17}, {'connected_gene': 'SNORA63C', 'score': 10.26}, {'connected_gene': 'THRAP3', 'score': 9.01}, {'connected_gene': 'STK40', 'score': 8.77}, {'connected_gene': 'MAP7D1', 'score': 5.05}, {'connected_gene': 'SH3D21', 'score': 1.44}, {'connected_gene': 'LSM10', 'score': 1.41}, {'connected_gene': 'GC01M036518', 'score': 0.25}]
chr1 GH01I036446 36446401 36447000 0.66 [{'connected_gene': 'CSF3R', 'score': 11.65}, {'connected_gene': 'SNORA63C', 'score': 11.04}, {'connected_gene': 'LSM10', 'score': 10.74}, {'connected_gene': 'OSCP1', 'score': 7.26}, {'connected_gene': 'GC01M036420', 'score': 0.31}]
chr1 GH01I036392 36392156 36394197 0.38 [{'connected_gene': 'OSCP1', 'score': 9.75}, {'connected_gene': 'LSM10', 'score': 0.77}, {'connected_gene': 'STK40', 'score': 0.44}]
chr1 GH01I036457 36457601 36459259 0.77 [{'connected_gene': 'OSCP1', 'score': 11.42}, {'connected_gene': 'LSM10', 'score': 10.47}, {'connected_gene': 'GC01P036455', 'score': 0.77}, {'connected_gene': 'MRPS15', 'score': 0.44}]
chr1 GH01I036408 36408241 36409206 0.9 [{'connected_gene': 'OSCP1', 'score': 12.0}, {'connected_gene': 'LSM10', 'score': 6.19}, {'connected_gene': 'RNU4-27P', 'score': 0.44}, {'connected_gene': 'GC01M036420', 'score': 0.44}, {'connected_gene': 'SNORA63C', 'score': 0.44}]
chr1 GH01I036449 36449801 36451562 1.97 [{'connected_gene': 'OSCP1', 'score': 557.26}, {'connected_gene': 'SNORA63C', 'score': 10.5}, {'connected_gene': 'LSM10', 'score': 9.96}, {'connected_gene': 'AGO3', 'score': 9.66}, {'connected_gene': 'GC01P036455', 'score': 0.77}]
chr1 GH01I036450 36449149 36449429 0.2 [{'connected_gene': 'OSCP1', 'score': 557.26}, {'connected_gene': 'SNORA63C', 'score': 10.5}, {'connected_gene': 'LSM10', 'score': 9.96}, {'connected_gene': 'GC01M036420', 'score': 0.29}]
chr1 GH01I036492 36492700 36492849 0.82 [{'connected_gene': 'OSCP1', 'score': 10.75}, {'connected_gene': 'RNU4-27P', 'score': 9.93}, {'connected_gene': 'LSM10', 'score': 9.92}, {'connected_gene': 'CSF3R', 'score': 0.44}, {'connected_gene': 'GC01M036518', 'score': 0.28}]
chr1 GH01I036400 36400446 36402400 1.72 [{'connected_gene': 'RNU4-27P', 'score': 550.77}, {'connected_gene': 'OSCP1', 'score': 10.25}, {'connected_gene': 'LSM10', 'score': 2.02}]
chr1 GH01I036253 36253081 36256236 0.7 [{'connected_gene': 'ENSG00000116883', 'score': 23.58}, {'connected_gene': 'THRAP3', 'score': 12.22}, {'connected_gene': 'SH3D21', 'score': 11.52}, {'connected_gene': 'EVA1B', 'score': 11.5}, {'connected_gene': 'COL8A2', 'score': 11.23}, {'connected_gene': 'TRAPPC3', 'score': 11.05}, {'connected_gene': 'MAP7D1', 'score': 11.05}, {'connected_gene': 'LSM10', 'score': 10.61}, {'connected_gene': 'ADPRHL2', 'score': 10.41}, {'connected_gene': 'LOC100128093', 'score': 10.4}, {'connected_gene': 'TEKT2', 'score': 10.4}, {'connected_gene': 'SNORA63C', 'score': 10.38}, {'connected_gene': 'OSCP1', 'score': 10.37}, {'connected_gene': 'UBE2V2P4', 'score': 0.39}]
chr1 GH01I036237 36237594 36241352 1.35 [{'connected_gene': 'ENSG00000116883', 'score': 17.85}, {'connected_gene': 'ZMYM4', 'score': 16.46}, {'connected_gene': 'AGO3', 'score': 14.14}, {'connected_gene': 'COL8A2', 'score': 11.32}, {'connected_gene': 'TRAPPC3', 'score': 10.84}, {'connected_gene': 'MAP7D1', 'score': 10.84}, {'connected_gene': 'SH3D21', 'score': 10.84}, {'connected_gene': 'EVA1B', 'score': 10.81}, {'connected_gene': 'ADPRHL2', 'score': 10.45}, {'connected_gene': 'LOC100128093', 'score': 10.45}, {'connected_gene': 'TEKT2', 'score': 10.45}, {'connected_gene': 'SNORA63C', 'score': 10.26}, {'connected_gene': 'OSCP1', 'score': 10.24}, {'connected_gene': 'LSM10', 'score': 10.06}, {'connected_gene': 'RNU4-27P', 'score': 10.06}, {'connected_gene': 'UBE2V2P4', 'score': 0.77}, {'connected_gene': 'THRAP3', 'score': 0.37}]
chr1 GH01I036257 36257057 36259409 1.03 [{'connected_gene': 'ENSG00000116883', 'score': 18.54}, {'connected_gene': 'SH3D21', 'score': 11.54}, {'connected_gene': 'EVA1B', 'score': 11.5}, {'connected_gene': 'TRAPPC3', 'score': 11.04}, {'connected_gene': 'MAP7D1', 'score': 11.04}, {'connected_gene': 'LSM10', 'score': 10.62}, {'connected_gene': 'ADPRHL2', 'score': 10.29}, {'connected_gene': 'LOC100128093', 'score': 10.29}, {'connected_gene': 'TEKT2', 'score': 10.29}, {'connected_gene': 'SNORA63C', 'score': 9.97}, {'connected_gene': 'OSCP1', 'score': 9.96}, {'connected_gene': 'UBE2V2P4', 'score': 0.37}, {'connected_gene': 'THRAP3', 'score': 0.29}]
chr1 GH01I036339 36339060 36345842 1.14 [{'connected_gene': 'PIR49451', 'score': 550.77}, {'connected_gene': 'SH3D21', 'score': 18.44}, {'connected_gene': 'SNORA63C', 'score': 12.3}, {'connected_gene': 'OSCP1', 'score': 12.26}, {'connected_gene': 'LSM10', 'score': 11.62}, {'connected_gene': 'RNU4-27P', 'score': 11.61}, {'connected_gene': 'TRAPPC3', 'score': 10.3}, {'connected_gene': 'MAP7D1', 'score': 10.3}, {'connected_gene': 'ENSG00000116883', 'score': 7.79}, {'connected_gene': 'PIR56403', 'score': 0.77}, {'connected_gene': 'STK40', 'score': 0.26}]
chr1 GH01I036234 36231813 36233325 0.43 [{'connected_gene': 'ENSG00000116883', 'score': 16.3}, {'connected_gene': 'TRAPPC3', 'score': 11.14}, {'connected_gene': 'MAP7D1', 'score': 11.14}, {'connected_gene': 'COL8A2', 'score': 10.98}, {'connected_gene': 'LSM10', 'score': 10.02}, {'connected_gene': 'RNU4-27P', 'score': 10.01}, {'connected_gene': 'SNORA63C', 'score': 9.9}, {'connected_gene': 'OSCP1', 'score': 9.89}, {'connected_gene': 'UBE2V2P4', 'score': 0.44}, {'connected_gene': 'THRAP3', 'score': 0.44}]

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