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
ENST00000222139 [[11488235, 11489271], [11489366, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493772, 11493908], [11494768, 11494988]] [[11488659, 11489271], [11489366, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493772, 11493908], [11494768, 11494883]]
ENST00000592375 [[11488300, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493772, 11493908], [11494768, 11494988]] [[11489294, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493772, 11493908], [11494768, 11494883]]
ENST00000588681 [[11488438, 11489271], [11489366, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493522, 11493908], [11494768, 11495018]] None
ENST00000591958 [[11488541, 11489271], [11489366, 11489454], [11491559, 11491647], [11491731, 11491989], [11492367, 11492525], [11492605, 11492781], [11493772, 11493908], [11494106, 11494211], [11494768, 11494960]] [[11491848, 11491989], [11492367, 11492525], [11492605, 11492781], [11493772, 11493908], [11494106, 11494211], [11494768, 11494883]]
ENST00000588859 [[11488541, 11489271], [11489366, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493522, 11493625], [11493772, 11493908], [11494768, 11494960]] [[11492775, 11492781], [11493522, 11493625], [11493772, 11493908], [11494768, 11494883]]
ENST00000586890 [[11488549, 11489271], [11489366, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493522, 11493658], [11493772, 11493908], [11494768, 11494960]] [[11492775, 11492781], [11493522, 11493658], [11493772, 11493908], [11494768, 11494883]]
ENST00000590927 [[11488931, 11489454], [11491559, 11491914]] None
ENST00000589402 [[11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493522, 11493908], [11494106, 11494130]] None
NR_033663 [[11487880, 11489271], [11489366, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493522, 11493908], [11494768, 11495018]] None
NM_000121 [[11487880, 11489271], [11489366, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493772, 11493908], [11494768, 11495018]] [[11488659, 11489271], [11489366, 11489454], [11491559, 11491647], [11491731, 11491885], [11492367, 11492525], [11492605, 11492781], [11493772, 11493908], [11494768, 11494883]]
Promoter
Chrom Start End Description
chr19 11491892 11491905 CAGE_peak_1_at_EPOR_5end
chr19 11494150 11494164 CAGE_peak_9_at_EPOR_5end
chr19 11494171 11494199 CAGE_peak_8_at_EPOR_5end
chr19 11494940 11494972 CAGE_peak_3_at_EPOR_5end
chr19 11494975 11495003 CAGE_peak_2_at_EPOR_5end
chr19 11495009 11495031 CAGE_peak_4_at_EPOR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I011386 11386805 11387914 0.8 [{'connected_gene': 'RGL3', 'score': 20.78}, {'connected_gene': 'PLPPR2', 'score': 18.14}, {'connected_gene': 'KANK2', 'score': 5.13}, {'connected_gene': 'EPOR', 'score': 0.77}, {'connected_gene': 'GC19P011409', 'score': 0.34}]
chr19 GH19I011360 11360605 11362839 0.92 [{'connected_gene': 'RGL3', 'score': 17.44}, {'connected_gene': 'PLPPR2', 'score': 13.0}, {'connected_gene': 'EPOR', 'score': 12.19}, {'connected_gene': 'TSPAN16', 'score': 11.82}, {'connected_gene': 'SWSAP1', 'score': 0.39}]
chr19 GH19I011404 11404504 11407000 0.84 [{'connected_gene': 'RGL3', 'score': 15.35}, {'connected_gene': 'PRKCSH', 'score': 5.81}, {'connected_gene': 'GC19P011409', 'score': 0.77}, {'connected_gene': 'EPOR', 'score': 0.34}]
chr19 GH19I011380 11379565 11379714 0.49 [{'connected_gene': 'TMEM205', 'score': 12.18}, {'connected_gene': 'CCDC159', 'score': 12.18}, {'connected_gene': 'RAB3D', 'score': 12.18}, {'connected_gene': 'EPOR', 'score': 0.77}, {'connected_gene': 'PIR61774', 'score': 0.77}]
chr19 GH19I011293 11293365 11294620 1.52 [{'connected_gene': 'ILF3', 'score': 54.09}, {'connected_gene': 'ENSG00000267174', 'score': 47.68}, {'connected_gene': 'KRI1', 'score': 41.84}, {'connected_gene': 'ZNF136', 'score': 39.14}, {'connected_gene': 'RAVER1', 'score': 29.1}, {'connected_gene': 'ZNF627', 'score': 27.83}, {'connected_gene': 'ZNF700', 'score': 27.07}, {'connected_gene': 'CDC37', 'score': 26.02}, {'connected_gene': 'ZNF844', 'score': 19.82}, {'connected_gene': 'ZNF823', 'score': 13.39}, {'connected_gene': 'ZNF763', 'score': 13.03}, {'connected_gene': 'ZNF878', 'score': 12.75}, {'connected_gene': 'ZNF625', 'score': 12.66}, {'connected_gene': 'ZNF491', 'score': 12.32}, {'connected_gene': 'ZNF439', 'score': 11.63}, {'connected_gene': 'ZNF20', 'score': 11.59}, {'connected_gene': 'ZNF887P', 'score': 11.17}, {'connected_gene': 'PRKCSH', 'score': 11.08}, {'connected_gene': 'ZNF441', 'score': 10.79}, {'connected_gene': 'SWSAP1', 'score': 10.59}, {'connected_gene': 'RPL28P5', 'score': 10.46}, {'connected_gene': 'TYK2', 'score': 10.41}, {'connected_gene': 'ZNF433-AS1', 'score': 10.02}, {'connected_gene': 'ATG4D', 'score': 9.76}, {'connected_gene': 'QTRT1', 'score': 9.73}, {'connected_gene': 'ENSG00000242615', 'score': 9.73}, {'connected_gene': 'RPL18AP13', 'score': 9.7}, {'connected_gene': 'PLPPR2', 'score': 8.03}, {'connected_gene': 'EPOR', 'score': 6.92}, {'connected_gene': 'DOCK6', 'score': 5.8}, {'connected_gene': 'CCDC159', 'score': 4.31}, {'connected_gene': 'C19orf38', 'score': 3.43}, {'connected_gene': 'ACP5', 'score': 1.5}, {'connected_gene': 'TSPAN16', 'score': 0.77}]
chr19 GH19I011379 11379797 11384934 2.3 [{'connected_gene': 'EPOR', 'score': 550.77}, {'connected_gene': 'KRI1', 'score': 50.83}, {'connected_gene': 'ILF3', 'score': 48.58}, {'connected_gene': 'TIMM29', 'score': 33.13}, {'connected_gene': 'ZNF44', 'score': 30.47}, {'connected_gene': 'ZNF136', 'score': 28.81}, {'connected_gene': 'ZNF433', 'score': 22.96}, {'connected_gene': 'ZNF878', 'score': 22.76}, {'connected_gene': 'ZNF20', 'score': 20.78}, {'connected_gene': 'ZNF563', 'score': 18.33}, {'connected_gene': 'ZNF763', 'score': 17.76}, {'connected_gene': 'CDC37', 'score': 15.06}, {'connected_gene': 'ZNF700', 'score': 14.29}, {'connected_gene': 'ZNF844', 'score': 14.28}, {'connected_gene': 'ZNF441', 'score': 14.11}, {'connected_gene': 'RGL3', 'score': 14.08}, {'connected_gene': 'ZNF627', 'score': 13.75}, {'connected_gene': 'SWSAP1', 'score': 12.63}, {'connected_gene': 'ENSG00000242615', 'score': 12.32}, {'connected_gene': 'TMEM205', 'score': 12.16}, {'connected_gene': 'CCDC159', 'score': 12.16}, {'connected_gene': 'RAB3D', 'score': 12.16}, {'connected_gene': 'ZNF442', 'score': 12.03}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'CARM1', 'score': 10.9}, {'connected_gene': 'LOC100289333', 'score': 9.76}, {'connected_gene': 'KANK2', 'score': 4.69}, {'connected_gene': 'PIR61774', 'score': 0.44}]
chr19 GH19I011452 11452484 11454996 1 [{'connected_gene': 'ELAVL3', 'score': 13.16}, {'connected_gene': 'TSPAN16', 'score': 12.11}, {'connected_gene': 'EPOR', 'score': 12.1}, {'connected_gene': 'SWSAP1', 'score': 11.34}, {'connected_gene': 'GC19M011460', 'score': 0.44}, {'connected_gene': 'CCDC151', 'score': 0.37}]
chr19 GH19I011450 11450578 11451345 0.58 [{'connected_gene': 'ELAVL3', 'score': 13.26}, {'connected_gene': 'EPOR', 'score': 12.24}, {'connected_gene': 'PRKCSH', 'score': 5.72}, {'connected_gene': 'GC19M011460', 'score': 0.39}, {'connected_gene': 'CCDC151', 'score': 0.37}]
chr19 GH19I011443 11443714 11449426 0.82 [{'connected_gene': 'ELAVL3', 'score': 13.26}, {'connected_gene': 'EPOR', 'score': 12.81}, {'connected_gene': 'TSPAN16', 'score': 11.98}, {'connected_gene': 'KANK2', 'score': 11.16}, {'connected_gene': 'PRKCSH', 'score': 6.01}, {'connected_gene': 'ENSG00000267174', 'score': 5.09}, {'connected_gene': 'CCDC159', 'score': 4.57}, {'connected_gene': 'CCDC151', 'score': 0.39}, {'connected_gene': 'GC19M011460', 'score': 0.37}]
chr19 GH19I011451 11451526 11451675 0.4 [{'connected_gene': 'ELAVL3', 'score': 13.28}, {'connected_gene': 'EPOR', 'score': 12.24}, {'connected_gene': 'CCDC159', 'score': 4.24}, {'connected_gene': 'GC19M011460', 'score': 0.39}, {'connected_gene': 'CCDC151', 'score': 0.37}]
chr19 GH19I011264 11264002 11266875 1.64 [{'connected_gene': 'ENSG00000267174', 'score': 28.78}, {'connected_gene': 'ILF3', 'score': 15.0}, {'connected_gene': 'TIMM29', 'score': 14.82}, {'connected_gene': 'ZNF844', 'score': 14.28}, {'connected_gene': 'ZNF433', 'score': 13.92}, {'connected_gene': 'ZNF627', 'score': 13.71}, {'connected_gene': 'KRI1', 'score': 13.35}, {'connected_gene': 'ZNF136', 'score': 11.75}, {'connected_gene': 'ZNF441', 'score': 11.4}, {'connected_gene': 'DOCK6', 'score': 9.08}, {'connected_gene': 'EPOR', 'score': 6.06}, {'connected_gene': 'TSPAN16', 'score': 0.29}]
chr19 GH19I011279 11279556 11280634 0.94 [{'connected_gene': 'ENSG00000267174', 'score': 34.55}, {'connected_gene': 'ILF3', 'score': 17.18}, {'connected_gene': 'ZNF136', 'score': 16.9}, {'connected_gene': 'CDC37', 'score': 14.45}, {'connected_gene': 'KRI1', 'score': 12.64}, {'connected_gene': 'EPOR', 'score': 11.97}, {'connected_gene': 'ZNF700', 'score': 10.71}, {'connected_gene': 'RAVER1', 'score': 10.24}, {'connected_gene': 'ZNF844', 'score': 10.19}, {'connected_gene': 'ZNF627', 'score': 9.94}, {'connected_gene': 'DOCK6', 'score': 0.37}, {'connected_gene': 'TSPAN16', 'score': 0.37}]
chr19 GH19I011286 11286201 11287200 0.59 [{'connected_gene': 'ENSG00000267174', 'score': 36.0}, {'connected_gene': 'EPOR', 'score': 8.07}, {'connected_gene': 'DOCK6', 'score': 7.64}, {'connected_gene': 'TSPAN16', 'score': 0.44}]
chr19 GH19I011373 11373205 11379434 2.53 [{'connected_gene': 'PIR61774', 'score': 550.77}, {'connected_gene': 'ENSG00000267277', 'score': 550.77}, {'connected_gene': 'SWSAP1', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 48.6}, {'connected_gene': 'KRI1', 'score': 43.59}, {'connected_gene': 'ZNF627', 'score': 37.21}, {'connected_gene': 'ZNF136', 'score': 35.31}, {'connected_gene': 'ZNF442', 'score': 35.14}, {'connected_gene': 'ZNF844', 'score': 34.32}, {'connected_gene': 'ZNF44', 'score': 29.56}, {'connected_gene': 'TIMM29', 'score': 29.24}, {'connected_gene': 'ZNF625', 'score': 24.43}, {'connected_gene': 'ZNF823', 'score': 23.77}, {'connected_gene': 'ZNF491', 'score': 23.26}, {'connected_gene': 'ZNF563', 'score': 22.85}, {'connected_gene': 'ZNF20', 'score': 21.65}, {'connected_gene': 'ZNF763', 'score': 18.75}, {'connected_gene': 'ZNF441', 'score': 12.34}, {'connected_gene': 'TMEM205', 'score': 12.2}, {'connected_gene': 'CCDC159', 'score': 12.18}, {'connected_gene': 'RAB3D', 'score': 12.18}, {'connected_gene': 'YIPF2', 'score': 12.07}, {'connected_gene': 'ZNF878', 'score': 11.83}, {'connected_gene': 'HNRNPA1P10', 'score': 11.52}, {'connected_gene': 'ZNF887P', 'score': 11.18}, {'connected_gene': 'CARM1', 'score': 10.9}, {'connected_gene': 'ZNF700', 'score': 10.41}, {'connected_gene': 'RPL18AP13', 'score': 9.74}, {'connected_gene': 'QTRT1', 'score': 9.73}, {'connected_gene': 'CDC37', 'score': 9.73}, {'connected_gene': 'PLPPR2', 'score': 7.81}, {'connected_gene': 'ELAVL3', 'score': 6.16}, {'connected_gene': 'PRKCSH', 'score': 5.16}, {'connected_gene': 'ZNF439', 'score': 2.17}, {'connected_gene': 'CCDC151', 'score': 2.05}, {'connected_gene': 'ZNF653', 'score': 2.01}, {'connected_gene': 'SMARCA4', 'score': 1.58}, {'connected_gene': 'EPOR', 'score': 0.44}]
chr19 GH19I011317 11317601 11326163 1.23 [{'connected_gene': 'ENSG00000267576', 'score': 550.77}, {'connected_gene': 'HSPC102', 'score': 550.77}, {'connected_gene': 'ENSG00000267174', 'score': 65.2}, {'connected_gene': 'TSPAN16', 'score': 24.62}, {'connected_gene': 'ILF3', 'score': 15.0}, {'connected_gene': 'TIMM29', 'score': 14.82}, {'connected_gene': 'ZNF844', 'score': 14.28}, {'connected_gene': 'ZNF433', 'score': 13.91}, {'connected_gene': 'ZNF627', 'score': 13.72}, {'connected_gene': 'KRI1', 'score': 13.35}, {'connected_gene': 'SWSAP1', 'score': 12.14}, {'connected_gene': 'ZNF136', 'score': 11.74}, {'connected_gene': 'EPOR', 'score': 11.7}, {'connected_gene': 'ZNF44', 'score': 10.39}, {'connected_gene': 'DOCK6', 'score': 7.18}, {'connected_gene': 'RGL3', 'score': 7.02}, {'connected_gene': 'RAB3D', 'score': 5.18}]

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