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
ENST00000012443 [[46850250, 46850474], [46857004, 46857246], [46878860, 46879008], [46879709, 46879831], [46886667, 46886733], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46894109]] [[46850353, 46850474], [46857004, 46857246], [46878860, 46879008], [46879709, 46879831], [46886667, 46886733], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46893603]]
ENST00000478046 [[46850357, 46850474], [46857004, 46857246], [46878860, 46879008], [46879709, 46879831], [46886667, 46886733], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46894407, 46894515], [46895893, 46896238]] [[46850357, 46850474], [46857004, 46857246], [46878860, 46879008], [46879709, 46879831], [46886667, 46886733], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46894407, 46894431]]
ENST00000391919 [[46850364, 46850474], [46857004, 46857246], [46878860, 46879008], [46879709, 46879831], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46894109]] [[46857201, 46857246], [46878860, 46879008], [46879709, 46879831], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46893603]]
ENST00000467902 [[46878860, 46879008], [46879709, 46879960]] None
ENST00000527193 [[46878883, 46879008], [46879709, 46879831], [46886667, 46886968]] None
ENST00000487483 [[46884767, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46891705], [46891809, 46891988], [46893307, 46894103]] None
ENST00000532058 [[46884982, 46886733], [46887036, 46887255]] None
ENST00000486994 [[46886028, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46894003]] None
ENST00000467502 [[46886412, 46886733], [46887040, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46891192]] None
ENST00000493347 [[46886579, 46886733], [46887036, 46887135], [46888060, 46888166], [46890349, 46890421]] None
ENST00000595055 [[46886719, 46887135], [46888060, 46888200]] None
ENST00000491003 [[46887050, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893543]] None
ENST00000492109 [[46887633, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891852]] None
ENST00000525507 [[46889974, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46893932]] None
ENST00000527623 [[46891182, 46891988], [46893307, 46893389], [46893540, 46893867]] None
NM_001204284 [[46850250, 46850474], [46857004, 46857246], [46878860, 46879008], [46879709, 46879831], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46894232]] [[46850353, 46850474], [46857004, 46857246], [46878860, 46879008], [46879709, 46879831], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46893603]]
NM_006247 [[46850250, 46850474], [46857004, 46857246], [46878860, 46879008], [46879709, 46879831], [46886667, 46886733], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46894232]] [[46850353, 46850474], [46857004, 46857246], [46878860, 46879008], [46879709, 46879831], [46886667, 46886733], [46887036, 46887135], [46888060, 46888166], [46890349, 46890492], [46890622, 46890710], [46891664, 46891705], [46891809, 46891988], [46893307, 46893389], [46893540, 46893603]]
Promoter
Chrom Start End Description
chr19 46850254 46850285 CAGE_peak_2_at_PPP5C_5end
chr19 46850289 46850301 CAGE_peak_3_at_PPP5C_5end
chr19 46850303 46850314 CAGE_peak_4_at_PPP5C_5end
chr19 46850320 46850362 CAGE_peak_1_at_PPP5C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I046210 46210555 46212805 1.24 [{'connected_gene': 'LOC93429', 'score': 14.4}, {'connected_gene': 'ZC3H4', 'score': 12.94}, {'connected_gene': 'ENSG00000269124', 'score': 12.59}, {'connected_gene': 'ERCC2', 'score': 10.59}, {'connected_gene': 'ENSG00000268810', 'score': 10.38}, {'connected_gene': 'CCDC61', 'score': 10.09}, {'connected_gene': 'PPP5C', 'score': 10.08}, {'connected_gene': 'IGFL2-AS1', 'score': 7.73}, {'connected_gene': 'RPL12P41', 'score': 5.97}]
chr19 GH19I046410 46410632 46414605 2.24 [{'connected_gene': 'CCDC8', 'score': 561.17}, {'connected_gene': 'CCDC61', 'score': 50.74}, {'connected_gene': 'ZC3H4', 'score': 50.6}, {'connected_gene': 'ENSG00000269148', 'score': 30.13}, {'connected_gene': 'ENSG00000268810', 'score': 29.9}, {'connected_gene': 'FBXO46', 'score': 23.78}, {'connected_gene': 'CCDC9', 'score': 21.05}, {'connected_gene': 'PRKD2', 'score': 18.35}, {'connected_gene': 'SYMPK', 'score': 12.66}, {'connected_gene': 'QPCTL', 'score': 12.15}, {'connected_gene': 'SLC1A5', 'score': 12.03}, {'connected_gene': 'ENSG00000269124', 'score': 10.98}, {'connected_gene': 'HIF3A', 'score': 10.85}, {'connected_gene': 'PPP5C', 'score': 10.22}, {'connected_gene': 'DM1-AS', 'score': 9.96}, {'connected_gene': 'PNMA8A', 'score': 6.98}, {'connected_gene': 'ERCC1', 'score': 5.42}, {'connected_gene': 'LOC105372426', 'score': 0.44}]
chr19 GH19I047309 47309001 47316475 2.14 [{'connected_gene': 'C5AR1', 'score': 590.14}, {'connected_gene': 'DHX34', 'score': 65.45}, {'connected_gene': 'ZC3H4', 'score': 32.75}, {'connected_gene': 'C5AR2', 'score': 31.91}, {'connected_gene': 'NAPA', 'score': 17.67}, {'connected_gene': 'CCDC9', 'score': 15.23}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'BBC3', 'score': 1.5}]
chr19 GH19I046287 46287541 46290533 1.07 [{'connected_gene': 'HIF3A', 'score': 15.92}, {'connected_gene': 'PPP5C', 'score': 5.98}, {'connected_gene': 'IGFL1P2', 'score': 0.31}]
chr19 GH19I046295 46295845 46305236 2.62 [{'connected_gene': 'HIF3A', 'score': 565.97}, {'connected_gene': 'PPP5C', 'score': 20.92}, {'connected_gene': 'ENSG00000269124', 'score': 8.77}, {'connected_gene': 'FOSB', 'score': 5.26}, {'connected_gene': 'IGFL3', 'score': 4.57}, {'connected_gene': 'MYPOP', 'score': 1.82}, {'connected_gene': 'IRF2BP1', 'score': 1.58}, {'connected_gene': 'CCDC8', 'score': 1.49}, {'connected_gene': 'DACT3', 'score': 1.23}, {'connected_gene': 'GC19M046308', 'score': 0.44}, {'connected_gene': 'RNU6-924P', 'score': 0.44}]
chr19 GH19I046630 46630801 46631467 0.77 [{'connected_gene': 'PPP5C', 'score': 4.44}, {'connected_gene': 'GNG8', 'score': 0.77}, {'connected_gene': 'PTGIR', 'score': 0.44}]
chr19 GH19I046283 46283601 46283801 0.51 [{'connected_gene': 'PPP5C', 'score': 13.88}, {'connected_gene': 'HIF3A', 'score': 0.39}, {'connected_gene': 'IGFL1P2', 'score': 0.34}]
chr19 GH19I046371 46371114 46375060 1.25 [{'connected_gene': 'PPP5C', 'score': 37.41}, {'connected_gene': 'HIF3A', 'score': 11.27}, {'connected_gene': 'ENSG00000268810', 'score': 6.01}, {'connected_gene': 'GC19M046372', 'score': 0.37}]
chr19 GH19I046407 46407154 46409867 1.12 [{'connected_gene': 'PPP5C', 'score': 12.73}, {'connected_gene': 'PNMA8A', 'score': 12.35}, {'connected_gene': 'HIF3A', 'score': 10.86}, {'connected_gene': 'LOC105372426', 'score': 0.77}, {'connected_gene': 'CCDC8', 'score': 0.44}]
chr19 GH19I046415 46415300 46417540 1.35 [{'connected_gene': 'PPP5C', 'score': 18.68}, {'connected_gene': 'IRF2BP1', 'score': 14.21}, {'connected_gene': 'ENSG00000269124', 'score': 12.65}, {'connected_gene': 'HIF3A', 'score': 10.85}, {'connected_gene': 'CCDC8', 'score': 10.46}, {'connected_gene': 'PNMA8C', 'score': 0.39}]
chr19 GH19I046349 46349282 46352569 1.26 [{'connected_gene': 'PPP5C', 'score': 42.36}, {'connected_gene': 'ENSG00000268810', 'score': 5.91}, {'connected_gene': 'PRKD2', 'score': 1.45}]
chr19 GH19I046345 46345811 46348259 2.07 [{'connected_gene': 'PPP5C', 'score': 593.04}, {'connected_gene': 'ENSG00000268810', 'score': 33.61}, {'connected_gene': 'ZC3H4', 'score': 23.73}, {'connected_gene': 'CCDC61', 'score': 15.42}, {'connected_gene': 'ENSG00000269148', 'score': 14.28}, {'connected_gene': 'FBXO46', 'score': 14.05}, {'connected_gene': 'CCDC9', 'score': 12.29}, {'connected_gene': 'QPCTL', 'score': 10.42}, {'connected_gene': 'INAFM1', 'score': 10.35}, {'connected_gene': 'ERCC1', 'score': 9.88}]
chr19 GH19I046376 46376991 46379909 0.31 [{'connected_gene': 'PPP5C', 'score': 45.23}, {'connected_gene': 'ENSG00000268810', 'score': 5.31}, {'connected_gene': 'GC19M046372', 'score': 0.39}]
chr19 GH19I046362 46362024 46362173 0.31 [{'connected_gene': 'PPP5C', 'score': 16.02}, {'connected_gene': 'ENSG00000268810', 'score': 0.34}]
chr19 GH19I046354 46354317 46356682 0.83 [{'connected_gene': 'PPP5C', 'score': 47.42}, {'connected_gene': 'ENSG00000268810', 'score': 0.31}]
chr19 GH19I046348 46348801 46349000 0.31 [{'connected_gene': 'PPP5C', 'score': 550.77}, {'connected_gene': 'ENSG00000268810', 'score': 0.29}]
chr19 GH19I047329 47329290 47332600 1.74 [{'connected_gene': 'C5AR2', 'score': 553.12}, {'connected_gene': 'NAPA', 'score': 12.23}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'C5AR1', 'score': 4.86}, {'connected_gene': 'ZC3H4', 'score': 2.49}, {'connected_gene': 'DHX34', 'score': 2.17}, {'connected_gene': 'CCDC9', 'score': 1.97}, {'connected_gene': 'BICRA', 'score': 1.84}, {'connected_gene': 'NOP53', 'score': 1.28}]
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 GH19I046859 46859201 46867667 1.83 [{'connected_gene': 'CCDC9', 'score': 20.64}, {'connected_gene': 'CCDC61', 'score': 15.39}, {'connected_gene': 'ZC3H4', 'score': 13.62}, {'connected_gene': 'BICRA', 'score': 13.42}, {'connected_gene': 'ARHGAP35', 'score': 12.9}, {'connected_gene': 'SLC1A5', 'score': 12.74}, {'connected_gene': 'ENSG00000269124', 'score': 12.49}, {'connected_gene': 'TMEM160', 'score': 10.76}, {'connected_gene': 'ENSG00000268810', 'score': 10.16}, {'connected_gene': 'PPP5C', 'score': 9.99}, {'connected_gene': 'SAE1', 'score': 9.7}, {'connected_gene': 'AP2S1', 'score': 6.45}, {'connected_gene': 'PNMA8A', 'score': 5.92}, {'connected_gene': 'PNMA8B', 'score': 5.14}, {'connected_gene': 'CALM3', 'score': 3.96}, {'connected_gene': 'DACT3', 'score': 3.43}, {'connected_gene': 'PIR57810', 'score': 0.77}, {'connected_gene': 'GC19M046858', 'score': 0.77}]
chr19 GH19I046402 46402324 46402493 0.77 [{'connected_gene': 'ZC3H4', 'score': 33.28}, {'connected_gene': 'CCDC61', 'score': 27.9}, {'connected_gene': 'ENSG00000269148', 'score': 25.77}, {'connected_gene': 'ENSG00000268810', 'score': 24.01}, {'connected_gene': 'FBXO46', 'score': 20.65}, {'connected_gene': 'IRF2BP1', 'score': 14.22}, {'connected_gene': 'PNMA8A', 'score': 12.35}, {'connected_gene': 'ENSG00000204850', 'score': 12.23}, {'connected_gene': 'PNMA8B', 'score': 12.23}, {'connected_gene': 'CCDC9', 'score': 9.93}, {'connected_gene': 'PPP5C', 'score': 7.62}, {'connected_gene': 'LOC105372426', 'score': 0.77}, {'connected_gene': 'GC19M046401', 'score': 0.77}, {'connected_gene': 'GC19M046372', 'score': 0.39}]
chr19 GH19I045477 45477087 45479512 2.07 [{'connected_gene': 'ERCC1', 'score': 557.05}, {'connected_gene': 'PIR58452', 'score': 550.77}, {'connected_gene': 'TRU-TCA1-1', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 37.3}, {'connected_gene': 'CCDC61', 'score': 20.48}, {'connected_gene': 'CD3EAP', 'score': 19.25}, {'connected_gene': 'IRF2BP1', 'score': 14.26}, {'connected_gene': 'CLASRP', 'score': 13.84}, {'connected_gene': 'PPP1R37', 'score': 13.8}, {'connected_gene': 'ENSG00000268810', 'score': 12.93}, {'connected_gene': 'PPM1N', 'score': 12.68}, {'connected_gene': 'CEACAM19', 'score': 12.22}, {'connected_gene': 'VASP', 'score': 11.92}, {'connected_gene': 'PPP1R13L', 'score': 11.7}, {'connected_gene': 'EML2', 'score': 10.98}, {'connected_gene': 'SNRPD2', 'score': 10.84}, {'connected_gene': 'ERCC2', 'score': 10.51}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'MIR330', 'score': 10.06}, {'connected_gene': 'FOSB', 'score': 3.47}, {'connected_gene': 'RELB', 'score': 2.62}, {'connected_gene': 'GIPR', 'score': 2.57}, {'connected_gene': 'TRAPPC6A', 'score': 1.33}, {'connected_gene': 'FBXO46', 'score': 1.24}, {'connected_gene': 'GC19P045474', 'score': 0.77}]
chr19 GH19I046403 46403672 46406050 1.3 [{'connected_gene': 'LOC105372426', 'score': 550.77}, {'connected_gene': 'GC19M046401', 'score': 550.77}, {'connected_gene': 'PPP5C', 'score': 18.03}, {'connected_gene': 'ENSG00000268810', 'score': 14.6}, {'connected_gene': 'ENSG00000204850', 'score': 12.46}, {'connected_gene': 'PNMA8B', 'score': 12.45}, {'connected_gene': 'PNMA8A', 'score': 12.35}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'CCDC8', 'score': 5.65}]
chr19 GH19I045637 45637892 45644066 2.1 [{'connected_gene': 'EML2-AS1', 'score': 593.86}, {'connected_gene': 'EML2', 'score': 564.11}, {'connected_gene': 'GC19M045643', 'score': 550.77}, {'connected_gene': 'MIR330', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 29.69}, {'connected_gene': 'ENSG00000268810', 'score': 24.53}, {'connected_gene': 'IRF2BP1', 'score': 24.03}, {'connected_gene': 'ENSG00000267114', 'score': 21.1}, {'connected_gene': 'SYMPK', 'score': 20.46}, {'connected_gene': 'CLASRP', 'score': 15.84}, {'connected_gene': 'FBXO46', 'score': 15.64}, {'connected_gene': 'PPP1R37', 'score': 13.78}, {'connected_gene': 'ENSG00000269148', 'score': 13.42}, {'connected_gene': 'QPCTL', 'score': 10.62}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'ENSG00000259605', 'score': 5.07}]
chr19 GH19I046404 46402656 46402993 0.69 [{'connected_gene': 'GC19M046401', 'score': 550.77}, {'connected_gene': 'PPP5C', 'score': 16.79}, {'connected_gene': 'PNMA8A', 'score': 12.35}, {'connected_gene': 'PNMA8B', 'score': 12.23}, {'connected_gene': 'ENSG00000204850', 'score': 12.23}, {'connected_gene': 'LOC105372426', 'score': 0.77}, {'connected_gene': 'GC19M046372', 'score': 0.39}]
chr19 GH19I046390 46390685 46393572 0.94 [{'connected_gene': 'GC19M046372', 'score': 550.77}, {'connected_gene': 'PPP5C', 'score': 45.1}, {'connected_gene': 'LOC105372426', 'score': 0.39}, {'connected_gene': 'GC19M046401', 'score': 0.39}]
chr19 GH19I046771 46771024 46771193 0.93 [{'connected_gene': 'ENSG00000269124', 'score': 20.51}, {'connected_gene': 'STRN4', 'score': 17.03}, {'connected_gene': 'IRF2BP1', 'score': 14.21}, {'connected_gene': 'PRKD2', 'score': 11.08}, {'connected_gene': 'PPP5C', 'score': 10.01}, {'connected_gene': 'PIR51442', 'score': 0.39}, {'connected_gene': 'ENSG00000275719', 'score': 0.37}, {'connected_gene': 'SLC1A5', 'score': 0.37}, {'connected_gene': 'FKRP', 'score': 0.31}]
chr19 GH19I046065 46065643 46065792 0.62 [{'connected_gene': 'PIR33092', 'score': 550.77}, {'connected_gene': 'IRF2BP1', 'score': 14.3}, {'connected_gene': 'PPP1R37', 'score': 13.78}, {'connected_gene': 'ENSG00000268810', 'score': 12.96}, {'connected_gene': 'PGLYRP1', 'score': 11.51}, {'connected_gene': 'MIR769', 'score': 11.5}, {'connected_gene': 'PPP5C', 'score': 10.18}, {'connected_gene': 'HIF3A', 'score': 10.03}, {'connected_gene': 'PIR35316', 'score': 0.44}, {'connected_gene': 'LOC400706', 'score': 0.39}, {'connected_gene': 'IGFL4', 'score': 0.39}]
chr19 GH19I047078 47078944 47080534 1.19 [{'connected_gene': 'GC19P047078', 'score': 550.77}, {'connected_gene': 'SAE1', 'score': 17.82}, {'connected_gene': 'ENSG00000268810', 'score': 15.44}, {'connected_gene': 'ZC3H4', 'score': 14.53}, {'connected_gene': 'TMEM160', 'score': 12.57}, {'connected_gene': 'BICRA', 'score': 10.87}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'NAPA', 'score': 10.01}]

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