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
ENST00000394532 [[64037301, 64037809], [64039084, 64039275], [64051653, 64052111]] [[64037680, 64037809], [64039084, 64039275], [64051653, 64051840]]
ENST00000309032 [[64037305, 64037809], [64039084, 64039275], [64051653, 64051848], [64052102, 64052141]] [[64037680, 64037809], [64039084, 64039275], [64051653, 64051840]]
ENST00000544785 [[64037472, 64037809], [64051653, 64051841]] [[64037522, 64037809]]
ENST00000394531 [[64037727, 64037809], [64039084, 64039275], [64044375, 64044515], [64051653, 64051848], [64052102, 64052125]] [[64039110, 64039275], [64044375, 64044515], [64051653, 64051840]]
ENST00000493798 [[64037740, 64037809], [64039084, 64039340]] [[64037740, 64037809], [64039084, 64039207]]
ENST00000492141 [[64037779, 64037809], [64039084, 64039275], [64040190, 64040328]] [[64037779, 64037809], [64039084, 64039207]]
ENST00000544271 [[64044232, 64044515], [64051653, 64051848], [64052102, 64052176]] None
NM_004322 [[64037299, 64037809], [64039084, 64039275], [64051653, 64052176]] [[64037680, 64037809], [64039084, 64039275], [64051653, 64051840]]
NM_032989 [[64037299, 64037809], [64039084, 64039275], [64051653, 64051848], [64052102, 64052176]] [[64037680, 64037809], [64039084, 64039275], [64051653, 64051840]]
Promoter
Chrom Start End Description
chr11 64052012 64052026 CAGE_peak_3_at_BAD_5end
chr11 64052114 64052210 CAGE_peak_1_at_BAD_5end
chr11 64052523 64052542 CAGE_peak_6_at_BAD_5end
chr11 64052561 64052571 CAGE_peak_12_at_BAD_5end
chr11 64052579 64052597 CAGE_peak_5_at_BAD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I064354 64354689 64361259 2.72 [{'connected_gene': 'RPS6KA4', 'score': 559.68}, {'connected_gene': 'LOC102723878', 'score': 20.26}, {'connected_gene': 'PLCB3', 'score': 13.55}, {'connected_gene': 'ENSG00000231680', 'score': 6.78}, {'connected_gene': 'TRPT1', 'score': 4.82}, {'connected_gene': 'MARK2', 'score': 4.13}, {'connected_gene': 'PPP1R14B', 'score': 3.69}, {'connected_gene': 'ESRRA', 'score': 3.36}, {'connected_gene': 'PRDX5', 'score': 2.81}, {'connected_gene': 'TRMT112', 'score': 2.76}, {'connected_gene': 'BAD', 'score': 2.56}, {'connected_gene': 'NUDT22', 'score': 2.25}, {'connected_gene': 'CDC42BPG', 'score': 1.9}, {'connected_gene': 'FKBP2', 'score': 1.29}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.37}]
chr11 GH11I064204 64204109 64205258 0.93 [{'connected_gene': 'FERMT3', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 27.84}, {'connected_gene': 'NUDT22', 'score': 12.24}, {'connected_gene': 'DNAJC4', 'score': 12.21}, {'connected_gene': 'ENSG00000257086', 'score': 11.67}, {'connected_gene': 'PLCB3', 'score': 11.66}, {'connected_gene': 'MACROD1', 'score': 11.44}, {'connected_gene': 'GPR137', 'score': 11.34}, {'connected_gene': 'BAD', 'score': 11.31}, {'connected_gene': 'GC11M064182', 'score': 0.37}, {'connected_gene': 'STIP1', 'score': 0.37}]
chr11 GH11I064205 64205396 64209794 2.19 [{'connected_gene': 'FERMT3', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 25.79}, {'connected_gene': 'ZFPL1', 'score': 25.16}, {'connected_gene': 'PLCB3', 'score': 22.46}, {'connected_gene': 'SF1', 'score': 21.61}, {'connected_gene': 'TRMT112', 'score': 12.31}, {'connected_gene': 'ENSG00000257086', 'score': 11.65}, {'connected_gene': 'GPR137', 'score': 11.57}, {'connected_gene': 'BAD', 'score': 11.55}, {'connected_gene': 'KCNK4-TEX40', 'score': 11.54}, {'connected_gene': 'KCNK4', 'score': 11.54}, {'connected_gene': 'ENSG00000207024', 'score': 11.53}, {'connected_gene': 'CATSPERZ', 'score': 11.52}, {'connected_gene': 'ESRRA', 'score': 11.52}, {'connected_gene': 'FAU', 'score': 10.3}, {'connected_gene': 'SYVN1', 'score': 9.66}, {'connected_gene': 'CCDC88B', 'score': 8.56}, {'connected_gene': 'ENSG00000256116', 'score': 5.75}, {'connected_gene': 'NUDT22', 'score': 0.37}]
chr11 GH11I064282 64282937 64286697 2.22 [{'connected_gene': 'BAD', 'score': 550.77}, {'connected_gene': 'GPR137', 'score': 550.37}, {'connected_gene': 'LOC102723878', 'score': 24.8}, {'connected_gene': 'SF1', 'score': 21.65}, {'connected_gene': 'TRMT112', 'score': 21.15}, {'connected_gene': 'POLA2', 'score': 19.77}, {'connected_gene': 'ZFPL1', 'score': 14.52}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'PLCB3', 'score': 11.1}, {'connected_gene': 'ENSG00000257086', 'score': 10.96}, {'connected_gene': 'FAU', 'score': 10.31}, {'connected_gene': 'DNAJC4', 'score': 9.87}, {'connected_gene': 'NRXN2', 'score': 6.6}, {'connected_gene': 'FERMT3', 'score': 5.36}, {'connected_gene': 'KCNK4', 'score': 0.44}]
chr11 GH11I064267 64267086 64274313 1.82 [{'connected_gene': 'GPR137', 'score': 550.77}, {'connected_gene': 'ZFPL1', 'score': 34.68}, {'connected_gene': 'SF1', 'score': 32.9}, {'connected_gene': 'POLA2', 'score': 32.78}, {'connected_gene': 'PLCB3', 'score': 27.53}, {'connected_gene': 'TRMT112', 'score': 23.09}, {'connected_gene': 'DNAJC4', 'score': 21.3}, {'connected_gene': 'ENSG00000257086', 'score': 20.68}, {'connected_gene': 'FAU', 'score': 20.2}, {'connected_gene': 'LOC102723878', 'score': 19.24}, {'connected_gene': 'TRPT1', 'score': 17.08}, {'connected_gene': 'NAALADL1', 'score': 15.12}, {'connected_gene': 'NRXN2', 'score': 13.07}, {'connected_gene': 'KCNK4', 'score': 12.91}, {'connected_gene': 'SPINDOC', 'score': 12.7}, {'connected_gene': 'ATL3', 'score': 12.19}, {'connected_gene': 'ESRRA', 'score': 11.38}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'RCOR2', 'score': 11.14}, {'connected_gene': 'PRDX5', 'score': 10.91}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'C11orf95', 'score': 10.12}, {'connected_gene': 'ENSG00000231680', 'score': 9.23}, {'connected_gene': 'CCDC88B', 'score': 4.54}, {'connected_gene': 'GC11P064262', 'score': 0.44}, {'connected_gene': 'BAD', 'score': 0.39}]
chr11 GH11I064281 64281177 64281861 0.2 [{'connected_gene': 'PLCB3', 'score': 16.63}, {'connected_gene': 'BAD', 'score': 0.77}, {'connected_gene': 'GPR137', 'score': 0.39}]
chr11 GH11I064320 64320461 64325778 1.06 [{'connected_gene': 'PLCB3', 'score': 28.32}, {'connected_gene': 'LOC102723878', 'score': 25.84}, {'connected_gene': 'CATSPERZ', 'score': 12.21}, {'connected_gene': 'ENSG00000207024', 'score': 12.19}, {'connected_gene': 'KCNK4-TEX40', 'score': 12.17}, {'connected_gene': 'KCNK4', 'score': 12.17}, {'connected_gene': 'BAD', 'score': 12.15}, {'connected_gene': 'GPR137', 'score': 12.11}, {'connected_gene': 'ENSG00000257086', 'score': 11.39}, {'connected_gene': 'TRMT112', 'score': 10.65}, {'connected_gene': 'ENSG00000231680', 'score': 8.94}, {'connected_gene': 'FLRT1', 'score': 4.27}, {'connected_gene': 'ENSG00000256116', 'score': 4.2}, {'connected_gene': 'PIR36303', 'score': 0.77}, {'connected_gene': 'PRDX5', 'score': 0.44}, {'connected_gene': 'GC11P064331', 'score': 0.44}]
chr11 GH11I064237 64237035 64253602 2.32 [{'connected_gene': 'PPP1R14B', 'score': 572.68}, {'connected_gene': 'FKBP2', 'score': 550.77}, {'connected_gene': 'LOC105369340', 'score': 550.77}, {'connected_gene': 'PLCB3', 'score': 550.44}, {'connected_gene': 'TRPT1', 'score': 23.86}, {'connected_gene': 'LOC102723878', 'score': 22.35}, {'connected_gene': 'VEGFB', 'score': 19.71}, {'connected_gene': 'TRMT112', 'score': 17.45}, {'connected_gene': 'FERMT3', 'score': 12.7}, {'connected_gene': 'GPR137', 'score': 11.63}, {'connected_gene': 'BAD', 'score': 11.57}, {'connected_gene': 'ENSG00000257086', 'score': 6.66}, {'connected_gene': 'ENSG00000256116', 'score': 5.79}, {'connected_gene': 'FLRT1', 'score': 5.1}, {'connected_gene': 'PIR60417', 'score': 0.44}]
chr11 GH11I064215 64215169 64215258 0.49 [{'connected_gene': 'FKBP2', 'score': 12.56}, {'connected_gene': 'LOC105369340', 'score': 12.55}, {'connected_gene': 'ENSG00000257086', 'score': 12.55}, {'connected_gene': 'PPP1R14B', 'score': 12.55}, {'connected_gene': 'PLCB3', 'score': 12.53}, {'connected_gene': 'GPR137', 'score': 11.59}, {'connected_gene': 'BAD', 'score': 11.56}, {'connected_gene': 'MACROD1', 'score': 10.78}, {'connected_gene': 'FERMT3', 'score': 0.44}, {'connected_gene': 'NUDT22', 'score': 0.39}]
chr11 GH11I064274 64274879 64277731 0.82 [{'connected_gene': 'LOC102723878', 'score': 22.76}, {'connected_gene': 'DNAJC4', 'score': 11.65}, {'connected_gene': 'ESRRA', 'score': 11.4}, {'connected_gene': 'PRDX5', 'score': 10.92}, {'connected_gene': 'TRMT112', 'score': 10.92}, {'connected_gene': 'ENSG00000231680', 'score': 9.18}, {'connected_gene': 'BAD', 'score': 0.44}, {'connected_gene': 'GPR137', 'score': 0.44}]
chr11 GH11I064347 64347430 64349332 0.76 [{'connected_gene': 'LOC102723878', 'score': 22.34}, {'connected_gene': 'MIR1237', 'score': 11.87}, {'connected_gene': 'PRDX5', 'score': 11.82}, {'connected_gene': 'TRMT112', 'score': 11.82}, {'connected_gene': 'ESRRA', 'score': 11.79}, {'connected_gene': 'CATSPERZ', 'score': 11.5}, {'connected_gene': 'ENSG00000207024', 'score': 11.48}, {'connected_gene': 'KCNK4-TEX40', 'score': 11.47}, {'connected_gene': 'KCNK4', 'score': 11.47}, {'connected_gene': 'BAD', 'score': 11.46}, {'connected_gene': 'GPR137', 'score': 11.43}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.44}, {'connected_gene': 'MIR7155', 'score': 0.44}]