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
ENST00000316409 [[65339819, 65340431], [65340872, 65341669]] [[65340140, 65340431], [65340872, 65341112]]
ENST00000449319 [[65339932, 65340431], [65340823, 65341661]] [[65340140, 65340431], [65340823, 65340997]]
ENST00000530349 [[65339998, 65340431], [65340833, 65341663]] [[65340140, 65340431], [65340833, 65341112]]
NM_152832 [[65339819, 65340431], [65340872, 65341669]] [[65340140, 65340431], [65340872, 65341112]]
NM_001098785 [[65339819, 65340431], [65340833, 65341669]] [[65340140, 65340431], [65340833, 65341112]]
NM_001098784 [[65339819, 65340431], [65340823, 65341669]] [[65340140, 65340431], [65340823, 65340997]]
Promoter
Chrom Start End Description
chr11 65339978 65340051 CAGE_peak_1_at_FAM89B_5end
chr11 65340132 65340146 CAGE_peak_3_at_FAM89B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I065636 65636585 65644779 2.42 [{'connected_gene': 'SIPA1', 'score': 573.98}, {'connected_gene': 'EIF1AD', 'score': 38.88}, {'connected_gene': 'RBM14', 'score': 38.86}, {'connected_gene': 'SF1', 'score': 37.76}, {'connected_gene': 'ZFPL1', 'score': 33.44}, {'connected_gene': 'RBM4', 'score': 31.85}, {'connected_gene': 'PCNX3', 'score': 31.56}, {'connected_gene': 'POLA2', 'score': 26.33}, {'connected_gene': 'SART1', 'score': 24.09}, {'connected_gene': 'MUS81', 'score': 23.87}, {'connected_gene': 'ENSG00000245156', 'score': 23.26}, {'connected_gene': 'ENSG00000255320', 'score': 22.45}, {'connected_gene': 'SSSCA1', 'score': 22.28}, {'connected_gene': 'KAT5', 'score': 21.34}, {'connected_gene': 'KCNK7', 'score': 20.92}, {'connected_gene': 'ATG2A', 'score': 19.67}, {'connected_gene': 'MRPL11', 'score': 19.62}, {'connected_gene': 'RNASEH2C', 'score': 19.61}, {'connected_gene': 'FRMD8', 'score': 18.77}, {'connected_gene': 'MAP3K11', 'score': 17.95}, {'connected_gene': 'SF3B2', 'score': 17.74}, {'connected_gene': 'RAB1B', 'score': 14.54}, {'connected_gene': 'LOC105369352', 'score': 13.75}, {'connected_gene': 'RELA', 'score': 13.6}, {'connected_gene': 'EHBP1L1', 'score': 13.0}, {'connected_gene': 'SYVN1', 'score': 12.76}, {'connected_gene': 'TIGD3', 'score': 12.35}, {'connected_gene': 'SCYL1', 'score': 12.19}, {'connected_gene': 'NAALADL1', 'score': 11.94}, {'connected_gene': 'FAM89B', 'score': 11.3}, {'connected_gene': 'ENSG00000255038', 'score': 11.08}, {'connected_gene': 'VPS51', 'score': 10.86}, {'connected_gene': 'CFL1', 'score': 10.37}, {'connected_gene': 'SNX32', 'score': 10.34}, {'connected_gene': 'MEN1', 'score': 10.1}, {'connected_gene': 'BRMS1', 'score': 10.04}, {'connected_gene': 'CTSW', 'score': 7.32}, {'connected_gene': 'PACS1', 'score': 5.18}, {'connected_gene': 'AP5B1', 'score': 4.27}, {'connected_gene': 'PIR31729', 'score': 0.44}]
chr11 GH11I065609 65609733 65618264 2.52 [{'connected_gene': 'MAP3K11', 'score': 575.39}, {'connected_gene': 'PCNX3', 'score': 560.82}, {'connected_gene': 'CTSF', 'score': 21.84}, {'connected_gene': 'LOC105369352', 'score': 21.29}, {'connected_gene': 'EIF1AD', 'score': 19.71}, {'connected_gene': 'ENSG00000254461', 'score': 18.05}, {'connected_gene': 'SIPA1', 'score': 16.73}, {'connected_gene': 'RNASEH2C', 'score': 15.18}, {'connected_gene': 'SSSCA1', 'score': 12.37}, {'connected_gene': 'BBS1', 'score': 12.06}, {'connected_gene': 'SF1', 'score': 11.49}, {'connected_gene': 'SCYL1', 'score': 11.3}, {'connected_gene': 'ZNHIT2', 'score': 11.23}, {'connected_gene': 'POLA2', 'score': 11.21}, {'connected_gene': 'MRPL11', 'score': 10.18}, {'connected_gene': 'ZFPL1', 'score': 9.73}, {'connected_gene': 'ENSG00000269038', 'score': 9.68}, {'connected_gene': 'SNX32', 'score': 5.24}, {'connected_gene': 'CTSW', 'score': 4.64}, {'connected_gene': 'EFEMP2', 'score': 4.58}, {'connected_gene': 'FAM89B', 'score': 3.63}, {'connected_gene': 'C11orf68', 'score': 2.78}, {'connected_gene': 'FAU', 'score': 1.85}, {'connected_gene': 'CCDC85B', 'score': 1.74}, {'connected_gene': 'CAPN1', 'score': 1.37}, {'connected_gene': 'KCNK7', 'score': 0.37}]
chr11 GH11I065811 65811190 65813223 0.72 [{'connected_gene': 'SNX32', 'score': 29.65}, {'connected_gene': 'CTSW', 'score': 27.96}, {'connected_gene': 'MAP3K11', 'score': 21.07}, {'connected_gene': 'OVOL1-AS1', 'score': 12.38}, {'connected_gene': 'OVOL1', 'score': 12.35}, {'connected_gene': 'AP5B1', 'score': 12.33}, {'connected_gene': 'CFL1', 'score': 11.73}, {'connected_gene': 'PCNX3', 'score': 11.01}, {'connected_gene': 'CCDC85B', 'score': 10.92}, {'connected_gene': 'FIBP', 'score': 10.92}, {'connected_gene': 'SART1', 'score': 10.9}, {'connected_gene': 'EIF1AD', 'score': 10.32}, {'connected_gene': 'BANF1', 'score': 10.32}, {'connected_gene': 'CST6', 'score': 10.32}, {'connected_gene': 'KCNK7', 'score': 10.16}, {'connected_gene': 'SSSCA1', 'score': 10.16}, {'connected_gene': 'FAM89B', 'score': 10.15}, {'connected_gene': 'EHBP1L1', 'score': 10.15}, {'connected_gene': 'EFEMP2', 'score': 5.39}, {'connected_gene': 'GC11M065816', 'score': 0.44}, {'connected_gene': 'ENSG00000255404', 'score': 0.39}]
chr11 GH11I065567 65567675 65579673 2.57 [{'connected_gene': 'SSSCA1', 'score': 571.4}, {'connected_gene': 'EHBP1L1', 'score': 563.92}, {'connected_gene': 'FAM89B', 'score': 550.77}, {'connected_gene': 'PCNX3', 'score': 49.78}, {'connected_gene': 'SF1', 'score': 45.32}, {'connected_gene': 'EIF1AD', 'score': 40.15}, {'connected_gene': 'POLA2', 'score': 38.67}, {'connected_gene': 'LOC105369352', 'score': 30.44}, {'connected_gene': 'NEAT1', 'score': 28.76}, {'connected_gene': 'ZFPL1', 'score': 27.15}, {'connected_gene': 'SART1', 'score': 25.58}, {'connected_gene': 'MUS81', 'score': 24.9}, {'connected_gene': 'RELA', 'score': 24.08}, {'connected_gene': 'ENSG00000245156', 'score': 23.07}, {'connected_gene': 'ENSG00000255320', 'score': 21.71}, {'connected_gene': 'KAT5', 'score': 21.34}, {'connected_gene': 'SF3B2', 'score': 21.16}, {'connected_gene': 'SCYL1', 'score': 20.68}, {'connected_gene': 'ENSG00000255038', 'score': 20.33}, {'connected_gene': 'ATG2A', 'score': 18.84}, {'connected_gene': 'FRMD8', 'score': 18.53}, {'connected_gene': 'KCNK7', 'score': 14.44}, {'connected_gene': 'TIGD3', 'score': 13.28}, {'connected_gene': 'MAP3K11', 'score': 13.02}, {'connected_gene': 'SYVN1', 'score': 12.94}, {'connected_gene': 'FAU', 'score': 11.4}, {'connected_gene': 'ZNHIT2', 'score': 11.24}, {'connected_gene': 'CDC42EP2', 'score': 10.22}, {'connected_gene': 'MALAT1', 'score': 10.07}, {'connected_gene': 'NAALADL1', 'score': 9.94}, {'connected_gene': 'ENSG00000254461', 'score': 9.71}, {'connected_gene': 'RNASEH2C', 'score': 7.42}, {'connected_gene': 'TSGA10IP', 'score': 4.71}, {'connected_gene': 'SIPA1', 'score': 2.66}, {'connected_gene': 'AP5B1', 'score': 1.76}, {'connected_gene': 'SSSCA1-AS1', 'score': 0.77}, {'connected_gene': 'GC11M065567', 'score': 0.77}]