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
ENST00000602017 [[46984052, 46984697], [47028919, 47029041], [47030181, 47030329], [47104139, 47104189]] [[46984640, 46984697], [47028919, 47029041], [47030181, 47030329], [47104139, 47104189]]
ENST00000414155 [[47021935, 47023229], [47028919, 47029041], [47030181, 47030329], [47104139, 47104457]] [[47023070, 47023229], [47028919, 47029041], [47030181, 47030329], [47104139, 47104226]]
ENST00000593359 [[47028732, 47029041], [47030181, 47030329], [47104139, 47104188]] None
ENST00000595691 [[46984341, 46984697], [46993122, 46993377]] None
ENST00000594701 [[47101405, 47104182]] None
NM_001205281 [[46984044, 46984697], [47028919, 47029041], [47030181, 47030329], [47104139, 47104457]] [[46984640, 46984697], [47028919, 47029041], [47030181, 47030329], [47104139, 47104226]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I046522 46522370 46523634 0.7 [{'connected_gene': 'GNG8', 'score': 10.7}, {'connected_gene': 'PNMA8A', 'score': 6.37}, {'connected_gene': 'PNMA8B', 'score': 4.99}, {'connected_gene': 'CCDC8', 'score': 4.86}, {'connected_gene': 'PTGIR', 'score': 1.34}, {'connected_gene': 'GC19M046472', 'score': 0.77}, {'connected_gene': 'GC19M046508', 'score': 0.39}, {'connected_gene': 'PPP5D1', 'score': 0.18}]
chr19 GH19I046542 46542764 46542953 0.75 [{'connected_gene': 'GNG8', 'score': 10.66}, {'connected_gene': 'LOC101928145', 'score': 0.44}, {'connected_gene': 'GAPDHP38', 'score': 0.37}, {'connected_gene': 'PPP5D1', 'score': 0.22}]
chr19 GH19I046559 46559105 46559287 0.25 [{'connected_gene': 'GAPDHP38', 'score': 550.77}, {'connected_gene': 'GNG8', 'score': 11.03}, {'connected_gene': 'PIR33284', 'score': 0.34}, {'connected_gene': 'ENSG00000268423', 'score': 0.26}, {'connected_gene': 'PPP5D1', 'score': 0.26}]
chr19 GH19I045927 45927303 45928417 1.23 [{'connected_gene': 'CCDC61', 'score': 40.95}, {'connected_gene': 'SYMPK', 'score': 34.19}, {'connected_gene': 'CLASRP', 'score': 32.18}, {'connected_gene': 'ENSG00000269148', 'score': 22.3}, {'connected_gene': 'ENSG00000268810', 'score': 19.02}, {'connected_gene': 'PNMA8A', 'score': 17.23}, {'connected_gene': 'PPP5D1', 'score': 14.77}, {'connected_gene': 'FBXO46', 'score': 14.11}, {'connected_gene': 'MYPOP', 'score': 12.68}, {'connected_gene': 'QPCTL', 'score': 12.19}, {'connected_gene': 'IRF2BP1', 'score': 11.28}, {'connected_gene': 'FOXA3', 'score': 10.96}, {'connected_gene': 'PNMA8B', 'score': 10.82}, {'connected_gene': 'SNRPD2', 'score': 10.23}, {'connected_gene': 'NOVA2', 'score': 10.04}, {'connected_gene': 'DM1-AS', 'score': 10.02}, {'connected_gene': 'ENSG00000269124', 'score': 9.77}, {'connected_gene': 'FKRP', 'score': 4.67}, {'connected_gene': 'NANOS2', 'score': 0.39}, {'connected_gene': 'GC19M045925', 'score': 0.31}]
chr19 GH19I046782 46782400 46789163 2.34 [{'connected_gene': 'SLC1A5', 'score': 575.06}, {'connected_gene': 'CCDC61', 'score': 72.39}, {'connected_gene': 'ZC3H4', 'score': 67.02}, {'connected_gene': 'CCDC9', 'score': 46.72}, {'connected_gene': 'BICRA', 'score': 46.57}, {'connected_gene': 'NOP53-AS1', 'score': 37.1}, {'connected_gene': 'ENSG00000269148', 'score': 36.78}, {'connected_gene': 'PRKD2', 'score': 31.3}, {'connected_gene': 'SNORD23', 'score': 29.51}, {'connected_gene': 'ENSG00000268810', 'score': 22.26}, {'connected_gene': 'NOP53', 'score': 21.72}, {'connected_gene': 'STRN4', 'score': 14.95}, {'connected_gene': 'IRF2BP1', 'score': 12.93}, {'connected_gene': 'SYMPK', 'score': 12.01}, {'connected_gene': 'LOC105372421', 'score': 11.94}, {'connected_gene': 'PNMA8A', 'score': 11.84}, {'connected_gene': 'IGFL4', 'score': 11.22}, {'connected_gene': 'PPP5D1', 'score': 11.18}, {'connected_gene': 'MEIS3', 'score': 10.85}, {'connected_gene': 'LOC93429', 'score': 10.56}, {'connected_gene': 'NOVA2', 'score': 10.46}, {'connected_gene': 'FKRP', 'score': 10.11}, {'connected_gene': 'ENSG00000268746', 'score': 9.8}, {'connected_gene': 'CCDC8', 'score': 5.54}, {'connected_gene': 'ENSG00000275719', 'score': 0.77}, {'connected_gene': 'PIR51442', 'score': 0.31}]
chr19 GH19I046494 46494924 46496628 1.27 [{'connected_gene': 'PNMA8B', 'score': 550.77}, {'connected_gene': 'ENSG00000204850', 'score': 550.77}, {'connected_gene': 'PNMA8A', 'score': 19.35}, {'connected_gene': 'DM1-AS', 'score': 10.45}, {'connected_gene': 'ENSG00000259605', 'score': 9.97}, {'connected_gene': 'GC19M046472', 'score': 0.29}, {'connected_gene': 'PPP5D1', 'score': 0.14}]
chr19 GH19I046504 46504097 46504422 0.48 [{'connected_gene': 'PNMA8A', 'score': 18.59}, {'connected_gene': 'PNMA8B', 'score': 4.77}, {'connected_gene': 'DACT3', 'score': 3.18}, {'connected_gene': 'CALM3', 'score': 2.58}, {'connected_gene': 'GC19P046501', 'score': 0.77}, {'connected_gene': 'GC19M046508', 'score': 0.44}, {'connected_gene': 'GC19M046472', 'score': 0.34}, {'connected_gene': 'PPP5D1', 'score': 0.15}]
chr19 GH19I046489 46489264 46490643 0.77 [{'connected_gene': 'PNMA8A', 'score': 27.89}, {'connected_gene': 'ENSG00000204850', 'score': 0.77}, {'connected_gene': 'PNMA8B', 'score': 0.44}, {'connected_gene': 'GC19P046479', 'score': 0.39}, {'connected_gene': 'GC19M046472', 'score': 0.28}, {'connected_gene': 'PPP5D1', 'score': 0.14}]
chr19 GH19I046487 46487388 46488573 1.4 [{'connected_gene': 'PNMA8A', 'score': 27.83}, {'connected_gene': 'DM1-AS', 'score': 10.45}, {'connected_gene': 'ENSG00000259605', 'score': 9.98}, {'connected_gene': 'GC19P046479', 'score': 0.44}, {'connected_gene': 'PNMA8B', 'score': 0.44}, {'connected_gene': 'ENSG00000204850', 'score': 0.44}, {'connected_gene': 'GC19M046472', 'score': 0.28}, {'connected_gene': 'PPP5D1', 'score': 0.14}]
chr19 GH19I046529 46529401 46530993 1.13 [{'connected_gene': 'PNMA8A', 'score': 19.61}, {'connected_gene': 'LOC101928145', 'score': 0.77}, {'connected_gene': 'GC19M046472', 'score': 0.77}, {'connected_gene': 'PPP5D1', 'score': 0.19}]
chr19 GH19I047225 47225267 47233495 2.37 [{'connected_gene': 'BBC3', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 286.1}, {'connected_gene': 'BICRA', 'score': 161.17}, {'connected_gene': 'ENSG00000268810', 'score': 144.14}, {'connected_gene': 'NOP53-AS1', 'score': 116.07}, {'connected_gene': 'CCDC9', 'score': 84.67}, {'connected_gene': 'NOP53', 'score': 66.53}, {'connected_gene': 'SNORD23', 'score': 37.42}, {'connected_gene': 'PPP5D1', 'score': 33.65}, {'connected_gene': 'ENSG00000269124', 'score': 29.52}, {'connected_gene': 'PRKD2', 'score': 27.11}, {'connected_gene': 'PNMA8A', 'score': 24.57}, {'connected_gene': 'SLC1A5', 'score': 22.8}, {'connected_gene': 'ENSG00000268746', 'score': 20.33}, {'connected_gene': 'INAFM1', 'score': 20.32}, {'connected_gene': 'LIG1', 'score': 19.63}, {'connected_gene': 'ZSWIM9', 'score': 12.69}, {'connected_gene': 'STRN4', 'score': 11.81}, {'connected_gene': 'EHD2', 'score': 10.98}, {'connected_gene': 'MEIS3', 'score': 10.91}, {'connected_gene': 'PNMA8B', 'score': 10.81}, {'connected_gene': 'SLC8A2', 'score': 10.67}, {'connected_gene': 'PPP5C', 'score': 9.99}, {'connected_gene': 'MIR3191', 'score': 0.77}, {'connected_gene': 'MIR3190', 'score': 0.77}]
chr19 GH19I046263 46263024 46263173 0.92 [{'connected_gene': 'IRF2BP1', 'score': 42.8}, {'connected_gene': 'ZC3H4', 'score': 34.37}, {'connected_gene': 'CCDC61', 'score': 31.02}, {'connected_gene': 'PPP5D1', 'score': 24.38}, {'connected_gene': 'ENSG00000269124', 'score': 20.65}, {'connected_gene': 'NOVA2', 'score': 19.99}, {'connected_gene': 'ENSG00000268810', 'score': 19.74}, {'connected_gene': 'PNMA8A', 'score': 14.63}, {'connected_gene': 'HIF3A', 'score': 11.73}, {'connected_gene': 'IGFL4', 'score': 11.22}, {'connected_gene': 'MIR769', 'score': 11.06}, {'connected_gene': 'PGLYRP1', 'score': 11.06}, {'connected_gene': 'PNMA8B', 'score': 10.86}, {'connected_gene': 'DM1-AS', 'score': 10.47}, {'connected_gene': 'SAE1', 'score': 10.41}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'ENSG00000259605', 'score': 9.99}, {'connected_gene': 'IGFL1P2', 'score': 0.77}]
chr19 GH19I047034 47034854 47036894 1.5 [{'connected_gene': 'ZC3H4', 'score': 26.18}, {'connected_gene': 'BICRA', 'score': 15.37}, {'connected_gene': 'PNMA8A', 'score': 11.81}, {'connected_gene': 'SAE1', 'score': 11.61}, {'connected_gene': 'PPP5D1', 'score': 11.13}, {'connected_gene': 'ENSG00000268810', 'score': 9.72}, {'connected_gene': 'PIR57310', 'score': 0.39}, {'connected_gene': 'TMEM160', 'score': 0.39}, {'connected_gene': 'NPAS1', 'score': 0.37}]
chr19 GH19I047105 47105710 47114883 2.68 [{'connected_gene': 'ZC3H4', 'score': 618.89}, {'connected_gene': 'ENSG00000268810', 'score': 44.26}, {'connected_gene': 'BICRA', 'score': 32.41}, {'connected_gene': 'C5AR2', 'score': 32.07}, {'connected_gene': 'PRKD2', 'score': 25.22}, {'connected_gene': 'CCDC9', 'score': 25.19}, {'connected_gene': 'NOP53-AS1', 'score': 22.55}, {'connected_gene': 'SNORD23', 'score': 20.88}, {'connected_gene': 'ENSG00000268746', 'score': 20.42}, {'connected_gene': 'DHX34', 'score': 19.13}, {'connected_gene': 'EHD2', 'score': 13.25}, {'connected_gene': 'PNMA8A', 'score': 11.81}, {'connected_gene': 'TMEM160', 'score': 11.39}, {'connected_gene': 'PPP5D1', 'score': 11.12}, {'connected_gene': 'ENSG00000269124', 'score': 10.82}, {'connected_gene': 'C5AR1', 'score': 10.52}, {'connected_gene': 'INAFM1', 'score': 10.36}, {'connected_gene': 'NOP53', 'score': 10.1}, {'connected_gene': 'BBC3', 'score': 6.52}, {'connected_gene': 'NAPA', 'score': 6.5}, {'connected_gene': 'SAE1', 'score': 5.53}, {'connected_gene': 'STRN4', 'score': 1.59}, {'connected_gene': 'PTGIR', 'score': 1.47}, {'connected_gene': 'GC19P047078', 'score': 0.29}]
chr19 GH19I046546 46546201 46547253 1.11 [{'connected_gene': 'ZC3H4', 'score': 15.71}, {'connected_gene': 'ENSG00000268810', 'score': 14.02}, {'connected_gene': 'DM1-AS', 'score': 12.27}, {'connected_gene': 'CCDC61', 'score': 11.84}, {'connected_gene': 'GNG8', 'score': 10.93}, {'connected_gene': 'ENSG00000259605', 'score': 10.04}, {'connected_gene': 'LOC101928145', 'score': 0.39}, {'connected_gene': 'GAPDHP38', 'score': 0.39}, {'connected_gene': 'ENSG00000268423', 'score': 0.23}, {'connected_gene': 'PPP5D1', 'score': 0.23}]
chr19 GH19I046884 46884844 46888949 0.6 [{'connected_gene': 'AP2S1', 'score': 18.32}, {'connected_gene': 'ARHGAP35', 'score': 11.91}, {'connected_gene': 'STRN4', 'score': 10.67}, {'connected_gene': 'FKRP', 'score': 10.67}, {'connected_gene': 'PRKD2', 'score': 10.44}, {'connected_gene': 'PPP5D1', 'score': 10.43}, {'connected_gene': 'GC19M046858', 'score': 0.34}]
chr19 GH19I046600 46600083 46604706 2.33 [{'connected_gene': 'PPP5D1', 'score': 565.51}, {'connected_gene': 'CALM3', 'score': 556.9}, {'connected_gene': 'ENSG00000268423', 'score': 550.77}, {'connected_gene': 'GC19M046598', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 65.44}, {'connected_gene': 'ENSG00000268810', 'score': 43.08}, {'connected_gene': 'CCDC61', 'score': 40.01}, {'connected_gene': 'ENSG00000269148', 'score': 36.1}, {'connected_gene': 'FBXO46', 'score': 30.44}, {'connected_gene': 'CCDC9', 'score': 22.26}, {'connected_gene': 'IRF2BP1', 'score': 21.24}, {'connected_gene': 'PNMA8A', 'score': 14.67}, {'connected_gene': 'DM1-AS', 'score': 13.24}, {'connected_gene': 'GNG8', 'score': 12.29}, {'connected_gene': 'SLC1A5', 'score': 12.06}, {'connected_gene': 'INAFM1', 'score': 11.49}, {'connected_gene': 'PNMA8B', 'score': 10.93}, {'connected_gene': 'ENSG00000269124', 'score': 10.85}, {'connected_gene': 'SLC8A2', 'score': 10.63}, {'connected_gene': 'SAE1', 'score': 10.42}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ENSG00000259605', 'score': 10.18}, {'connected_gene': 'PRKD2', 'score': 10.14}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'SNRPD2', 'score': 9.67}, {'connected_gene': 'ENSG00000269292', 'score': 0.44}]
chr19 GH19I047321 47321601 47322200 0.54 [{'connected_gene': 'PPP5D1', 'score': 10.39}, {'connected_gene': 'C5AR2', 'score': 0.44}, {'connected_gene': 'C5AR1', 'score': 0.29}]
chr19 GH19I046537 46537604 46537753 0.59 [{'connected_gene': 'MIR320E', 'score': 10.74}, {'connected_gene': 'LOC101928145', 'score': 0.77}, {'connected_gene': 'GAPDHP38', 'score': 0.34}, {'connected_gene': 'PPP5D1', 'score': 0.21}]
chr19 GH19I046478 46478106 46483180 1.03 [{'connected_gene': 'GC19P046479', 'score': 550.77}, {'connected_gene': 'PNMA8A', 'score': 29.79}, {'connected_gene': 'PNMA8B', 'score': 8.58}, {'connected_gene': 'ENSG00000204850', 'score': 0.39}, {'connected_gene': 'GC19M046472', 'score': 0.25}, {'connected_gene': 'PPP5D1', 'score': 0.13}]
chr19 GH19I046492 46492428 46494586 0.63 [{'connected_gene': 'ENSG00000204850', 'score': 550.77}, {'connected_gene': 'PNMA8A', 'score': 19.81}, {'connected_gene': 'PNMA8B', 'score': 0.77}, {'connected_gene': 'GC19P046479', 'score': 0.39}, {'connected_gene': 'GC19M046472', 'score': 0.29}, {'connected_gene': 'PPP5D1', 'score': 0.14}]
chr19 GH19I046131 46131394 46135049 1.3 [{'connected_gene': 'GC19P046133', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 96.09}, {'connected_gene': 'CCDC61', 'score': 69.82}, {'connected_gene': 'LOC93429', 'score': 29.78}, {'connected_gene': 'ENSG00000269148', 'score': 28.91}, {'connected_gene': 'ENSG00000268810', 'score': 28.19}, {'connected_gene': 'FBXO46', 'score': 25.8}, {'connected_gene': 'IGFL3', 'score': 12.52}, {'connected_gene': 'SYMPK', 'score': 12.44}, {'connected_gene': 'SLC1A5', 'score': 12.01}, {'connected_gene': 'PPP5D1', 'score': 11.41}, {'connected_gene': 'IRF2BP1', 'score': 11.36}, {'connected_gene': 'SNRPD2', 'score': 10.21}, {'connected_gene': 'ERCC2', 'score': 10.14}, {'connected_gene': 'PRKD2', 'score': 10.04}, {'connected_gene': 'ERCC1', 'score': 9.89}, {'connected_gene': 'ENSG00000267922', 'score': 0.29}, {'connected_gene': 'IGFL2', 'score': 0.23}]
chr19 GH19I047489 47489882 47491435 0.81 [{'connected_gene': 'ENSG00000279861', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 14.97}, {'connected_gene': 'PPP5D1', 'score': 14.76}, {'connected_gene': 'BICRA', 'score': 13.04}, {'connected_gene': 'ZSWIM9', 'score': 12.7}, {'connected_gene': 'NAPA', 'score': 12.61}, {'connected_gene': 'SLC1A5', 'score': 12.57}, {'connected_gene': 'SLC8A2', 'score': 10.97}, {'connected_gene': 'PNMA8B', 'score': 10.81}, {'connected_gene': 'GRWD1', 'score': 10.76}, {'connected_gene': 'CCDC9', 'score': 10.12}, {'connected_gene': 'ZNF541', 'score': 5.45}, {'connected_gene': 'TMEM143', 'score': 5.36}, {'connected_gene': 'NAPA-AS1', 'score': 0.44}]
chr19 GH19I046520 46520784 46520855 0.52 [{'connected_gene': 'GC19M046472', 'score': 0.44}, {'connected_gene': 'GC19M046508', 'score': 0.39}, {'connected_gene': 'PPP5D1', 'score': 0.18}]
chr19 GH19I046513 46513524 46513713 0.85 [{'connected_gene': 'GC19M046508', 'score': 0.77}, {'connected_gene': 'GC19M046472', 'score': 0.39}, {'connected_gene': 'PPP5D1', 'score': 0.17}]

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