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
ENST00000247003 [[19030483, 19030665], [19031388, 19031512], [19032471, 19032557], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035508], [19035690, 19035788], [19037111, 19037186], [19038574, 19038663], [19038773, 19038845], [19038936, 19039436]] [[19030550, 19030665], [19031388, 19031512], [19032471, 19032557], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035508], [19035690, 19035788], [19037111, 19037186], [19038574, 19038663], [19038773, 19038845], [19038936, 19039125]]
ENST00000599981 [[19030523, 19030665], [19031388, 19031512], [19032471, 19032788]] None
ENST00000599373 [[19030523, 19030665], [19031388, 19031512], [19031642, 19031718], [19032471, 19032901]] None
ENST00000594021 [[19030523, 19030665], [19031388, 19031512], [19031653, 19031718], [19032471, 19032557], [19032651, 19032773], [19033134, 19033316]] [[19030550, 19030665], [19031388, 19031512], [19031653, 19031718], [19032471, 19032524]]
ENST00000595858 [[19030535, 19030665], [19031388, 19031512], [19031642, 19031718], [19032471, 19032557], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035508], [19035661, 19035788], [19037111, 19037186], [19038574, 19038663], [19038773, 19038845], [19038936, 19039435]] [[19030550, 19030665], [19031388, 19031512], [19031642, 19031718], [19032471, 19032557], [19032651, 19032751]]
ENST00000438170 [[19030535, 19030665], [19031388, 19031512], [19031642, 19031718], [19032471, 19032557], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035508], [19035661, 19035788], [19037111, 19037186], [19038574, 19038663], [19038773, 19038845], [19038936, 19039435]] [[19032553, 19032557], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035508], [19035661, 19035788], [19037111, 19037141]]
ENST00000593361 [[19030536, 19030665], [19031459, 19031512], [19031642, 19031718], [19032471, 19032557], [19032651, 19032773], [19033134, 19033225]] [[19030550, 19030665], [19031459, 19031470]]
ENST00000598972 [[19030537, 19030665], [19031388, 19031512], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035091]] [[19030550, 19030665], [19031388, 19031512], [19032651, 19032751]]
ENST00000602113 [[19030546, 19030665], [19031459, 19031512], [19032471, 19032557], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035508], [19035690, 19035788], [19037111, 19037186], [19038574, 19038663], [19038773, 19038845], [19038936, 19039431]] [[19030550, 19030665], [19031459, 19031470]]
ENST00000601803 [[19032555, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035997]] None
ENST00000599156 [[19033140, 19033322], [19033506, 19033553], [19035041, 19035117], [19035431, 19035508], [19035690, 19035788], [19037111, 19037186], [19038574, 19038652]] None
ENST00000601772 [[19033518, 19033553], [19035041, 19035117], [19035431, 19035508], [19035690, 19035788], [19035938, 19035994]] None
ENST00000598277 [[19035461, 19035788], [19037111, 19037186], [19038574, 19038663], [19038773, 19038845], [19038936, 19039144]] None
ENST00000596502 [[19038552, 19038663], [19038773, 19038845], [19038936, 19039347]] None
NR_033677 [[19030483, 19030665], [19031459, 19031512], [19032471, 19032557], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035508], [19035690, 19035788], [19037111, 19037186], [19038574, 19038663], [19038773, 19038845], [19038936, 19039442]] None
NM_019070 [[19030483, 19030665], [19031388, 19031512], [19032471, 19032557], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035508], [19035690, 19035788], [19037111, 19037186], [19038574, 19038663], [19038773, 19038845], [19038936, 19039442]] [[19030550, 19030665], [19031388, 19031512], [19032471, 19032557], [19032651, 19032773], [19033134, 19033322], [19033412, 19033553], [19035041, 19035117], [19035431, 19035508], [19035690, 19035788], [19037111, 19037186], [19038574, 19038663], [19038773, 19038845], [19038936, 19039125]]
Promoter
Chrom Start End Description
chr19 19030478 19030489 CAGE_peak_2_at_DDX49_5end
chr19 19030497 19030554 CAGE_peak_1_at_DDX49_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I018372 18372122 18390078 2.91 [{'connected_gene': 'GDF15', 'score': 562.27}, {'connected_gene': 'NR2C2AP', 'score': 82.56}, {'connected_gene': 'ENSG00000268030', 'score': 76.81}, {'connected_gene': 'UPF1', 'score': 39.45}, {'connected_gene': 'ENSG00000268938', 'score': 34.8}, {'connected_gene': 'MEF2B', 'score': 33.09}, {'connected_gene': 'COLGALT1', 'score': 30.71}, {'connected_gene': 'SUGP2', 'score': 28.19}, {'connected_gene': 'MVB12A', 'score': 24.22}, {'connected_gene': 'IQCN', 'score': 23.33}, {'connected_gene': 'ENSG00000269191', 'score': 20.26}, {'connected_gene': 'TMEM161A', 'score': 18.98}, {'connected_gene': 'KXD1', 'score': 18.9}, {'connected_gene': 'IFI30', 'score': 17.63}, {'connected_gene': 'PGLS', 'score': 11.89}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'MAU2', 'score': 10.26}, {'connected_gene': 'RFXANK', 'score': 9.99}, {'connected_gene': 'ENSG00000269481', 'score': 9.96}, {'connected_gene': 'PGPEP1', 'score': 6.93}, {'connected_gene': 'SSBP4', 'score': 5.2}, {'connected_gene': 'KCNN1', 'score': 5.05}, {'connected_gene': 'LRRC25', 'score': 3.32}, {'connected_gene': 'ARRDC2', 'score': 2.44}, {'connected_gene': 'ELL', 'score': 1.93}, {'connected_gene': 'JUND', 'score': 1.44}, {'connected_gene': 'PDE4C', 'score': 1.39}, {'connected_gene': 'MIR3189', 'score': 0.44}]
chr19 GH19I019031 19031842 19034910 2.35 [{'connected_gene': 'ARMC6', 'score': 553.37}, {'connected_gene': 'SUGP2', 'score': 552.67}, {'connected_gene': 'ATP13A1', 'score': 27.04}, {'connected_gene': 'TMEM161A', 'score': 26.67}, {'connected_gene': 'MEF2B', 'score': 20.44}, {'connected_gene': 'ENSG00000268030', 'score': 18.92}, {'connected_gene': 'NR2C2AP', 'score': 15.07}, {'connected_gene': 'ENSG00000268938', 'score': 13.86}, {'connected_gene': 'UPF1', 'score': 13.82}, {'connected_gene': 'ENSG00000269191', 'score': 12.52}, {'connected_gene': 'ENSG00000267481', 'score': 12.31}, {'connected_gene': 'MAU2', 'score': 11.93}, {'connected_gene': 'IQCN', 'score': 10.23}, {'connected_gene': 'RFXANK', 'score': 10.17}, {'connected_gene': 'BORCS8', 'score': 10.17}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.17}, {'connected_gene': 'SLC25A42', 'score': 8.83}, {'connected_gene': 'SUGP1', 'score': 1.99}, {'connected_gene': 'DDX49', 'score': 1.95}, {'connected_gene': 'GC19M018978', 'score': 0.23}]
chr19 GH19I018918 18918200 18920839 2.06 [{'connected_gene': 'DDX49', 'score': 550.77}, {'connected_gene': 'COPE', 'score': 550.77}, {'connected_gene': 'UPF1', 'score': 23.26}, {'connected_gene': 'IQCN', 'score': 21.69}, {'connected_gene': 'ENSG00000268030', 'score': 18.93}, {'connected_gene': 'ATP13A1', 'score': 16.82}, {'connected_gene': 'NR2C2AP', 'score': 15.45}, {'connected_gene': 'ENSG00000268938', 'score': 13.88}, {'connected_gene': 'ENSG00000269191', 'score': 12.55}, {'connected_gene': 'ENSG00000267481', 'score': 12.3}, {'connected_gene': 'TMEM161A', 'score': 11.98}, {'connected_gene': 'MAU2', 'score': 11.92}, {'connected_gene': 'ELL', 'score': 10.6}, {'connected_gene': 'MEF2B', 'score': 10.32}, {'connected_gene': 'GDF1', 'score': 7.4}, {'connected_gene': 'HOMER3', 'score': 5.58}, {'connected_gene': 'LPAR2', 'score': 4.27}, {'connected_gene': 'ENSG00000268193', 'score': 0.39}]
chr19 GH19I018436 18436230 18442774 2.47 [{'connected_gene': 'ISYNA1', 'score': 550.77}, {'connected_gene': 'ENSG00000268199', 'score': 550.77}, {'connected_gene': 'ENSG00000268030', 'score': 28.59}, {'connected_gene': 'NR2C2AP', 'score': 25.8}, {'connected_gene': 'IQCN', 'score': 23.28}, {'connected_gene': 'ENSG00000268938', 'score': 22.29}, {'connected_gene': 'UPF1', 'score': 21.9}, {'connected_gene': 'MEF2B', 'score': 19.3}, {'connected_gene': 'SSBP4', 'score': 18.93}, {'connected_gene': 'KXD1', 'score': 14.89}, {'connected_gene': 'GATAD2A', 'score': 11.49}, {'connected_gene': 'ENSG00000269191', 'score': 11.44}, {'connected_gene': 'COLGALT1', 'score': 11.29}, {'connected_gene': 'DDX49', 'score': 10.7}, {'connected_gene': 'RFXANK', 'score': 9.99}, {'connected_gene': 'ELL', 'score': 0.18}]
chr19 GH19I018289 18289167 18295305 1.86 [{'connected_gene': 'NR2C2AP', 'score': 74.06}, {'connected_gene': 'ENSG00000268030', 'score': 70.16}, {'connected_gene': 'IQCN', 'score': 52.86}, {'connected_gene': 'SUGP2', 'score': 50.82}, {'connected_gene': 'UPF1', 'score': 46.14}, {'connected_gene': 'COLGALT1', 'score': 38.67}, {'connected_gene': 'ENSG00000268938', 'score': 36.46}, {'connected_gene': 'MVB12A', 'score': 29.85}, {'connected_gene': 'MEF2B', 'score': 28.66}, {'connected_gene': 'ENSG00000269191', 'score': 24.27}, {'connected_gene': 'GTPBP3', 'score': 22.9}, {'connected_gene': 'ELL', 'score': 21.85}, {'connected_gene': 'LOC100507551', 'score': 19.66}, {'connected_gene': 'RPL18A', 'score': 19.4}, {'connected_gene': 'JUND', 'score': 12.78}, {'connected_gene': 'IFI30', 'score': 12.73}, {'connected_gene': 'UBA52', 'score': 11.73}, {'connected_gene': 'TMEM161A', 'score': 11.06}, {'connected_gene': 'ENSG00000269815', 'score': 10.91}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'ENSG00000269481', 'score': 9.97}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'IL12RB1', 'score': 7.16}, {'connected_gene': 'ARRDC2', 'score': 5.99}, {'connected_gene': 'JAK3', 'score': 4.94}, {'connected_gene': 'RAB3A', 'score': 4.8}, {'connected_gene': 'LRRC25', 'score': 4.05}, {'connected_gene': 'KCNN1', 'score': 2.58}, {'connected_gene': 'KLHL26', 'score': 2.35}, {'connected_gene': 'PGPEP1', 'score': 2.12}, {'connected_gene': 'REX1BD', 'score': 1.39}, {'connected_gene': 'SSBP4', 'score': 1.31}, {'connected_gene': 'CRTC1', 'score': 1.28}, {'connected_gene': 'MAST3', 'score': 1.21}, {'connected_gene': 'GC19P020225', 'score': 0.77}, {'connected_gene': 'RPL39P38', 'score': 0.44}]
chr19 GH19I018300 18300390 18308620 1.84 [{'connected_gene': 'ENSG00000268030', 'score': 38.41}, {'connected_gene': 'UPF1', 'score': 37.84}, {'connected_gene': 'IQCN', 'score': 35.08}, {'connected_gene': 'ENSG00000268938', 'score': 26.94}, {'connected_gene': 'NR2C2AP', 'score': 23.89}, {'connected_gene': 'MEF2B', 'score': 18.54}, {'connected_gene': 'JUND', 'score': 18.24}, {'connected_gene': 'LSM4', 'score': 17.0}, {'connected_gene': 'COLGALT1', 'score': 15.47}, {'connected_gene': 'ENSG00000269191', 'score': 15.12}, {'connected_gene': 'MVB12A', 'score': 11.09}, {'connected_gene': 'IFI30', 'score': 10.88}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'ELL', 'score': 10.59}, {'connected_gene': 'PGPEP1', 'score': 10.33}, {'connected_gene': 'IL12RB1', 'score': 10.25}, {'connected_gene': 'GTPBP3', 'score': 10.01}, {'connected_gene': 'ENSG00000269481', 'score': 9.96}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'ARRDC2', 'score': 9.26}, {'connected_gene': 'SSBP4', 'score': 8.01}, {'connected_gene': 'JAK3', 'score': 4.27}, {'connected_gene': 'KLHL26', 'score': 3.4}, {'connected_gene': 'KCNN1', 'score': 1.58}, {'connected_gene': 'REX1BD', 'score': 1.12}, {'connected_gene': 'PIR51292', 'score': 0.44}, {'connected_gene': 'GC19P020234', 'score': 0.44}]
chr19 GH19I018931 18931393 18933525 0.97 [{'connected_gene': 'ENSG00000268193', 'score': 550.77}, {'connected_gene': 'NR2C2AP', 'score': 14.37}, {'connected_gene': 'ENSG00000269694', 'score': 5.2}, {'connected_gene': 'HOMER3', 'score': 0.44}, {'connected_gene': 'DDX49', 'score': 0.39}]

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