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
ENST00000295830 [[170582663, 170584313], [170585801, 170585923], [170586086, 170586179], [170587947, 170588272]] [[170584168, 170584313], [170585801, 170585923], [170586086, 170586179], [170587947, 170587956]]
ENST00000478578 [[170583582, 170584313], [170585801, 170585970]] None
ENST00000475836 [[170584051, 170584313], [170585801, 170585990], [170586086, 170586179], [170587947, 170587984]] [[170585897, 170585990], [170586086, 170586179], [170587947, 170587956]]
ENST00000466674 [[170584052, 170584313], [170585801, 170585923], [170586086, 170586179], [170587753, 170587822]] [[170584168, 170584313], [170585801, 170585923], [170586086, 170586179], [170587753, 170587822]]
ENST00000494771 [[170584055, 170584313], [170585801, 170585990], [170586086, 170586176], [170587947, 170587997]] [[170585897, 170585990], [170586086, 170586176], [170587947, 170587956]]
ENST00000463836 [[170584056, 170584313], [170585801, 170585923], [170586086, 170586176], [170587947, 170587984]] [[170584168, 170584313], [170585801, 170585923], [170586086, 170586176], [170587947, 170587956]]
NR_135259 [[170582663, 170584313], [170585801, 170585990], [170586086, 170586179], [170587947, 170588045]] None
NM_001099645 [[170582663, 170584313], [170585801, 170585923], [170586086, 170586179], [170587947, 170588045]] [[170584168, 170584313], [170585801, 170585923], [170586086, 170586179], [170587947, 170587956]]
NM_001320451 [[170582663, 170584313], [170585801, 170585923], [170586086, 170586176], [170587947, 170588045]] [[170584168, 170584313], [170585801, 170585923], [170586086, 170586176], [170587947, 170587956]]
Promoter
Chrom Start End Description
chr3 170587815 170587826 CAGE_peak_3_at_RPL22L1_5end
chr3 170587974 170587993 CAGE_peak_1_at_RPL22L1_5end
chr3 170588163 170588181 CAGE_peak_2_at_RPL22L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I170512 170512857 170515155 0.49 [{'connected_gene': 'PHC3', 'score': 17.35}, {'connected_gene': 'MYNN', 'score': 16.98}, {'connected_gene': 'CLDN11', 'score': 13.73}, {'connected_gene': 'RPL22L1', 'score': 10.55}, {'connected_gene': 'SEC62-AS1', 'score': 10.03}, {'connected_gene': 'KRT8P13', 'score': 0.37}, {'connected_gene': 'SLC7A14', 'score': 0.19}]
chr3 GH03I170178 170178615 170182482 2.24 [{'connected_gene': 'PHC3', 'score': 561.52}, {'connected_gene': 'GPR160', 'score': 30.55}, {'connected_gene': 'MYNN', 'score': 21.55}, {'connected_gene': 'SEC62-AS1', 'score': 12.4}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'GC03P170161', 'score': 0.37}]
chr3 GH03I170006 170006732 170007600 1.06 [{'connected_gene': 'PHC3', 'score': 17.38}, {'connected_gene': 'GPR160', 'score': 17.1}, {'connected_gene': 'MYNN', 'score': 17.03}, {'connected_gene': 'LOC100128164', 'score': 16.39}, {'connected_gene': 'RNU4-38P', 'score': 11.54}, {'connected_gene': 'RPL22P1', 'score': 11.27}, {'connected_gene': 'SAMD7', 'score': 10.83}, {'connected_gene': 'LRRIQ4', 'score': 10.82}, {'connected_gene': 'LRRC34', 'score': 10.82}, {'connected_gene': 'SEC62', 'score': 10.8}, {'connected_gene': 'RPL22L1', 'score': 10.52}, {'connected_gene': 'SEC62-AS1', 'score': 10.34}]
chr3 GH03I170492 170492433 170497058 1.28 [{'connected_gene': 'KRT8P13', 'score': 550.77}, {'connected_gene': 'SLC7A14', 'score': 10.3}, {'connected_gene': 'RPL22L1', 'score': 9.72}, {'connected_gene': 'MIR6828', 'score': 0.19}, {'connected_gene': 'CLDN11', 'score': 0.18}]
chr3 GH03I171021 171021096 171030021 1.69 [{'connected_gene': 'SLC2A2', 'score': 550.77}, {'connected_gene': 'MIR569', 'score': 11.06}, {'connected_gene': 'TNIK', 'score': 10.93}, {'connected_gene': 'RPL22L1', 'score': 10.89}, {'connected_gene': 'GC03M171011', 'score': 0.29}, {'connected_gene': 'RNU1-70P', 'score': 0.29}]
chr3 GH03I171013 171013432 171020813 1.36 [{'connected_gene': 'SLC2A2', 'score': 19.49}, {'connected_gene': 'RPL22L1', 'score': 10.73}, {'connected_gene': 'GC03M171011', 'score': 0.34}, {'connected_gene': 'RNU1-70P', 'score': 0.34}]
chr3 GH03I170988 170988235 170989926 0.38 [{'connected_gene': 'SLC2A2', 'score': 10.4}, {'connected_gene': 'RPL22L1', 'score': 4.58}, {'connected_gene': 'GC03P170992', 'score': 0.77}, {'connected_gene': 'KLF7P1', 'score': 0.44}, {'connected_gene': 'GC03M170953', 'score': 0.28}]
chr3 GH03I170961 170961760 170963058 0.96 [{'connected_gene': 'SLC2A2', 'score': 10.64}, {'connected_gene': 'RPL22L1', 'score': 10.43}, {'connected_gene': 'GC03M170953', 'score': 0.44}, {'connected_gene': 'KLF7P1', 'score': 0.29}, {'connected_gene': 'GC03P170992', 'score': 0.29}]
chr3 GH03I170907 170907391 170910241 2.31 [{'connected_gene': 'EIF5A2', 'score': 555.74}, {'connected_gene': 'PHC3', 'score': 29.19}, {'connected_gene': 'SEC62-AS1', 'score': 22.35}, {'connected_gene': 'RPL22L1', 'score': 18.29}, {'connected_gene': 'PRKCI', 'score': 10.42}, {'connected_gene': 'GC03M170953', 'score': 0.25}]
chr3 GH03I170698 170698852 170700011 1.08 [{'connected_gene': 'MYNN', 'score': 18.73}, {'connected_gene': 'PHC3', 'score': 14.02}, {'connected_gene': 'SEC62-AS1', 'score': 12.07}, {'connected_gene': 'PRKCI', 'score': 10.44}, {'connected_gene': 'RPL22L1', 'score': 9.8}, {'connected_gene': 'CLDN11', 'score': 6.63}, {'connected_gene': 'LOC101928583', 'score': 0.26}, {'connected_gene': 'ENSG00000239739', 'score': 0.26}]
chr3 GH03I170729 170729961 170730822 1.18 [{'connected_gene': 'MYNN', 'score': 18.73}, {'connected_gene': 'PHC3', 'score': 14.02}, {'connected_gene': 'SEC62-AS1', 'score': 12.07}, {'connected_gene': 'PRKCI', 'score': 10.43}, {'connected_gene': 'RPL22L1', 'score': 9.82}, {'connected_gene': 'LOC101928583', 'score': 5.81}, {'connected_gene': 'ENSG00000239739', 'score': 0.39}, {'connected_gene': 'CLDN11', 'score': 0.06}]
chr3 GH03I170764 170764990 170767781 1.19 [{'connected_gene': 'MYNN', 'score': 18.73}, {'connected_gene': 'PHC3', 'score': 14.02}, {'connected_gene': 'SEC62-AS1', 'score': 12.07}, {'connected_gene': 'PRKCI', 'score': 10.42}, {'connected_gene': 'RPL22L1', 'score': 9.86}, {'connected_gene': 'LOC101928583', 'score': 6.11}, {'connected_gene': 'LOC105374211', 'score': 0.77}, {'connected_gene': 'ENSG00000239739', 'score': 0.31}, {'connected_gene': 'CLDN11', 'score': 0.05}]
chr3 GH03I170370 170370070 170373256 0.54 [{'connected_gene': 'MYNN', 'score': 21.53}, {'connected_gene': 'SEC62-AS1', 'score': 12.37}, {'connected_gene': 'PHC3', 'score': 10.83}, {'connected_gene': 'RPL22L1', 'score': 9.97}, {'connected_gene': 'ENSG00000239628', 'score': 5.99}, {'connected_gene': 'SKIL', 'score': 5.57}, {'connected_gene': 'ENSG00000242578', 'score': 0.28}]
chr3 GH03I170367 170367201 170367400 0.69 [{'connected_gene': 'MYNN', 'score': 21.53}, {'connected_gene': 'SEC62-AS1', 'score': 12.36}, {'connected_gene': 'PHC3', 'score': 10.83}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'SKIL', 'score': 0.44}, {'connected_gene': 'ENSG00000242578', 'score': 0.26}]
chr3 GH03I170363 170363201 170364000 0.66 [{'connected_gene': 'MYNN', 'score': 21.53}, {'connected_gene': 'SEC62-AS1', 'score': 12.36}, {'connected_gene': 'PHC3', 'score': 10.83}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'SKIL', 'score': 0.44}, {'connected_gene': 'ENSG00000242578', 'score': 0.25}]
chr3 GH03I171804 171804047 171813327 2.79 [{'connected_gene': 'PLD1', 'score': 569.14}, {'connected_gene': 'FNDC3B', 'score': 14.25}, {'connected_gene': 'TMEM212', 'score': 11.06}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'ECT2', 'score': 4.9}, {'connected_gene': 'TNIK', 'score': 4.36}, {'connected_gene': 'ENSG00000234594', 'score': 0.06}]
chr3 GH03I170221 170221601 170225000 2.53 [{'connected_gene': 'PRKCI', 'score': 562.12}, {'connected_gene': 'ENSG00000270096', 'score': 29.99}, {'connected_gene': 'MYNN', 'score': 28.9}, {'connected_gene': 'SEC62-AS1', 'score': 25.1}, {'connected_gene': 'PHC3', 'score': 19.86}, {'connected_gene': 'RPL22P1', 'score': 12.17}, {'connected_gene': 'GPR160', 'score': 11.14}, {'connected_gene': 'RPL22L1', 'score': 10.62}, {'connected_gene': 'SLC7A14', 'score': 10.16}, {'connected_gene': 'LRRC34', 'score': 9.77}, {'connected_gene': 'ENSG00000270135', 'score': 9.69}, {'connected_gene': 'LRRIQ4', 'score': 1.58}, {'connected_gene': 'GC03P170245', 'score': 0.34}]
chr3 GH03I170808 170808243 170814832 1.43 [{'connected_gene': 'CLDN11', 'score': 16.53}, {'connected_gene': 'ENSG00000242578', 'score': 11.32}, {'connected_gene': 'RPL22L1', 'score': 11.1}, {'connected_gene': 'LOC101928583', 'score': 5.15}, {'connected_gene': 'EIF5A2', 'score': 3.5}, {'connected_gene': 'RNY5P3', 'score': 0.29}, {'connected_gene': 'LOC105374211', 'score': 0.26}]
chr3 GH03I170866 170866860 170871683 2.34 [{'connected_gene': 'RPL22L1', 'score': 580.44}, {'connected_gene': 'PHC3', 'score': 13.27}, {'connected_gene': 'SEC62-AS1', 'score': 11.15}, {'connected_gene': 'RNY5P3', 'score': 0.31}]
chr3 GH03I171009 171009033 171013391 0.86 [{'connected_gene': 'RPL22L1', 'score': 10.54}, {'connected_gene': 'SLC2A2', 'score': 0.37}, {'connected_gene': 'GC03M171011', 'score': 0.37}, {'connected_gene': 'RNU1-70P', 'score': 0.37}]
chr3 GH03I171044 171044233 171046427 0.95 [{'connected_gene': 'RPL22L1', 'score': 7.01}, {'connected_gene': 'SLC2A2', 'score': 0.37}, {'connected_gene': 'LOC105374216', 'score': 0.22}]
chr3 GH03I170965 170965274 170969191 0.71 [{'connected_gene': 'RPL22L1', 'score': 20.33}, {'connected_gene': 'SLC2A2', 'score': 11.26}, {'connected_gene': 'GC03M170953', 'score': 0.39}, {'connected_gene': 'KLF7P1', 'score': 0.31}, {'connected_gene': 'GC03P170992', 'score': 0.31}]
chr3 GH03I170816 170816832 170816981 0.38 [{'connected_gene': 'RPL22L1', 'score': 10.71}, {'connected_gene': 'CLDN11', 'score': 10.56}, {'connected_gene': 'ENSG00000242578', 'score': 10.56}, {'connected_gene': 'RNY5P3', 'score': 0.31}, {'connected_gene': 'LOC105374211', 'score': 0.25}]
chr3 GH03I170815 170815492 170815701 0.79 [{'connected_gene': 'RPL22L1', 'score': 10.85}, {'connected_gene': 'CLDN11', 'score': 10.6}, {'connected_gene': 'ENSG00000242578', 'score': 10.59}, {'connected_gene': 'RNY5P3', 'score': 0.31}, {'connected_gene': 'LOC105374211', 'score': 0.25}]
chr3 GH03I171320 171320408 171325964 1.46 [{'connected_gene': 'RPL22L1', 'score': 9.97}, {'connected_gene': 'TNIK', 'score': 6.73}, {'connected_gene': 'ENSG00000222506', 'score': 0.13}, {'connected_gene': 'MIR569', 'score': 0.08}]
chr3 GH03I170857 170857660 170857801 0.43 [{'connected_gene': 'RPL22L1', 'score': 0.39}, {'connected_gene': 'RNY5P3', 'score': 0.37}, {'connected_gene': 'CLDN11', 'score': 0.05}]
chr3 GH03I170825 170825631 170826409 0.31 [{'connected_gene': 'RPL22L1', 'score': 19.9}, {'connected_gene': 'RNY5P3', 'score': 0.37}, {'connected_gene': 'LOC105374211', 'score': 0.22}, {'connected_gene': 'CLDN11', 'score': 0.05}]
chr3 GH03I170819 170819798 170820046 0.22 [{'connected_gene': 'RPL22L1', 'score': 16.41}, {'connected_gene': 'RNY5P3', 'score': 0.34}, {'connected_gene': 'LOC105374211', 'score': 0.23}, {'connected_gene': 'CLDN11', 'score': 0.05}]
chr3 GH03I170867 170865532 170865561 0.59 [{'connected_gene': 'RPL22L1', 'score': 0.77}, {'connected_gene': 'RNY5P3', 'score': 0.34}]
chr3 GH03I170861 170861720 170861742 0.26 [{'connected_gene': 'RPL22L1', 'score': 0.44}, {'connected_gene': 'RNY5P3', 'score': 0.37}]
chr3 GH03I170864 170864772 170864821 0.38 [{'connected_gene': 'RPL22L1', 'score': 0.44}, {'connected_gene': 'RNY5P3', 'score': 0.34}]
chr3 GH03I170865 170865292 170865441 0.59 [{'connected_gene': 'RPL22L1', 'score': 0.44}, {'connected_gene': 'RNY5P3', 'score': 0.34}]
chr3 GH03I170975 170975563 170979695 1.18 [{'connected_gene': 'RPL22L1', 'score': 4.34}, {'connected_gene': 'KLF7P1', 'score': 0.37}, {'connected_gene': 'GC03P170992', 'score': 0.37}, {'connected_gene': 'GC03M170953', 'score': 0.34}]
chr3 GH03I171099 171099478 171104354 0.49 [{'connected_gene': 'LOC105374216', 'score': 550.77}, {'connected_gene': 'RPL22L1', 'score': 5.15}, {'connected_gene': 'TNIK', 'score': 4.64}, {'connected_gene': 'MIR569', 'score': 0.77}]
chr3 GH03I170723 170723803 170729463 1.7 [{'connected_gene': 'LOC101928583', 'score': 5.81}, {'connected_gene': 'EIF5A2', 'score': 5.52}, {'connected_gene': 'CLDN11', 'score': 2.86}, {'connected_gene': 'RPL22L1', 'score': 1.72}, {'connected_gene': 'ENSG00000239739', 'score': 0.39}]
chr3 GH03I169964 169964985 169968909 2.29 [{'connected_gene': 'LOC100128164', 'score': 565.04}, {'connected_gene': 'SEC62', 'score': 550.77}, {'connected_gene': 'MYNN', 'score': 21.59}, {'connected_gene': 'SEC62-AS1', 'score': 12.68}, {'connected_gene': 'LRRC31', 'score': 11.65}, {'connected_gene': 'GPR160', 'score': 11.54}, {'connected_gene': 'PHC3', 'score': 10.82}, {'connected_gene': 'RPL22L1', 'score': 9.95}]
chr3 GH03I170739 170739944 170743126 1.12 [{'connected_gene': 'ENSG00000239739', 'score': 550.77}, {'connected_gene': 'MYNN', 'score': 28.21}, {'connected_gene': 'SEC62-AS1', 'score': 21.34}, {'connected_gene': 'PHC3', 'score': 17.07}, {'connected_gene': 'RPL22L1', 'score': 14.64}, {'connected_gene': 'SLC7A14', 'score': 10.02}, {'connected_gene': 'LOC101928583', 'score': 6.24}, {'connected_gene': 'LOC105374211', 'score': 0.31}, {'connected_gene': 'CLDN11', 'score': 0.05}]

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