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
ENST00000371730 [[51819934, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51875206, 51875368], [51887457, 51887530], [51906018, 51906104], [51910560, 51910717], [51912631, 51912777], [51913717, 51913807], [51926762, 51926822], [51929344, 51929470], [51930932, 51930998], [51934144, 51934240], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51984913]] [[51822371, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51875206, 51875368], [51887457, 51887530], [51906018, 51906104], [51910560, 51910717], [51912631, 51912777], [51913717, 51913807], [51926762, 51926822], [51929344, 51929470], [51930932, 51930998], [51934144, 51934240], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51984903]]
ENST00000371733 [[51819934, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51871576, 51871780], [51873806, 51874004], [51875206, 51875368], [51887457, 51887530], [51906018, 51906104], [51910560, 51910717], [51912631, 51912777], [51913717, 51913807], [51926762, 51926822], [51929344, 51929470], [51930932, 51930998], [51934144, 51934240], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51985000]] [[51822371, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51871576, 51871780], [51873806, 51874004], [51875206, 51875368], [51887457, 51887530], [51906018, 51906104], [51910560, 51910717], [51912631, 51912777], [51913717, 51913807], [51926762, 51926822], [51929344, 51929470], [51930932, 51930998], [51934144, 51934240], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51984903]]
ENST00000396122 [[51821980, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51871576, 51871780], [51873806, 51874004], [51875206, 51875368], [51887457, 51887530], [51888879, 51888990]] [[51822371, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51871576, 51871780], [51873806, 51874004], [51875206, 51875368], [51887457, 51887530], [51888879, 51888950]]
ENST00000486505 [[51859883, 51860119], [51862782, 51862883], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869123]] None
ENST00000478657 [[51860090, 51860119], [51864703, 51864837], [51866589, 51866871]] None
ENST00000493793 [[51869100, 51869204], [51871576, 51871780], [51873806, 51874004], [51875206, 51875368], [51887457, 51887776]] None
ENST00000371727 [[51923207, 51924405], [51926762, 51926822], [51929344, 51929470], [51930932, 51930998], [51934144, 51934240], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51984917]] None
ENST00000464478 [[51924067, 51924405], [51924712, 51924820], [51926762, 51926822], [51929344, 51929470], [51930932, 51930998]] None
ENST00000471391 [[51926615, 51926822], [51929344, 51929470], [51930932, 51930998], [51934144, 51934240], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51984926]] None
ENST00000465467 [[51926794, 51926822], [51929344, 51929421], [51930938, 51930998], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51984899]] [[51929418, 51929421], [51930938, 51930998], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51984899]]
NM_001981 [[51819934, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51871576, 51871780], [51873806, 51874004], [51875206, 51875368], [51887457, 51887530], [51906018, 51906104], [51910560, 51910717], [51912631, 51912777], [51913717, 51913807], [51926762, 51926822], [51929344, 51929470], [51930932, 51930998], [51934144, 51934240], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51984995]] [[51822371, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51871576, 51871780], [51873806, 51874004], [51875206, 51875368], [51887457, 51887530], [51906018, 51906104], [51910560, 51910717], [51912631, 51912777], [51913717, 51913807], [51926762, 51926822], [51929344, 51929470], [51930932, 51930998], [51934144, 51934240], [51937361, 51937409], [51938530, 51938620], [51946944, 51946986], [51984870, 51984903]]
NM_001159969 [[51819934, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51871576, 51871780], [51873806, 51874004], [51875206, 51875368], [51887457, 51887793]] [[51822371, 51822518], [51826842, 51827027], [51829537, 51829700], [51831624, 51831701], [51860052, 51860119], [51864703, 51864837], [51866589, 51866625], [51868106, 51868197], [51869090, 51869204], [51871576, 51871780], [51873806, 51874004], [51875206, 51875368], [51887457, 51887628]]
Promoter
Chrom Start End Description
chr1 51887711 51887722 CAGE_peak_6_at_EPS15_5end
chr1 51887732 51887807 CAGE_peak_2_at_EPS15_5end
chr1 51887815 51887829 CAGE_peak_7_at_EPS15_5end
chr1 51984908 51984952 CAGE_peak_1_at_EPS15_5end
chr1 51984959 51984970 CAGE_peak_4_at_EPS15_5end
chr1 51984990 51984999 CAGE_peak_5_at_EPS15_5end
chr1 51985002 51985020 CAGE_peak_3_at_EPS15_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I051422 51422089 51422278 0.8 [{'connected_gene': 'PRPF38A', 'score': 12.86}, {'connected_gene': 'ENSG00000238140', 'score': 11.64}, {'connected_gene': 'EPS15', 'score': 11.52}, {'connected_gene': 'RNU6-877P', 'score': 11.07}, {'connected_gene': 'ENSG00000227070', 'score': 10.83}, {'connected_gene': 'TTC39A', 'score': 10.58}, {'connected_gene': 'GC01P051412', 'score': 0.44}, {'connected_gene': 'GC01M051449', 'score': 0.31}, {'connected_gene': 'GC01M051448', 'score': 0.31}]
chr1 GH01I051666 51666001 51667264 0.93 [{'connected_gene': 'NRDC', 'score': 9.73}, {'connected_gene': 'OSBPL9', 'score': 5.35}, {'connected_gene': 'EPS15', 'score': 1.6}, {'connected_gene': 'TXNDC12', 'score': 1.38}, {'connected_gene': 'GAPDHP51', 'score': 0.26}, {'connected_gene': 'LOC105378719', 'score': 0.26}]
chr1 GH01I051563 51563346 51572689 1.36 [{'connected_gene': 'NRDC', 'score': 15.7}, {'connected_gene': 'RNU6-1281P', 'score': 12.55}, {'connected_gene': 'ENSG00000266993', 'score': 12.41}, {'connected_gene': 'CDKN2C', 'score': 11.25}, {'connected_gene': 'EPS15', 'score': 11.14}, {'connected_gene': 'ENSG00000227070', 'score': 11.14}, {'connected_gene': 'RNU6-877P', 'score': 9.79}, {'connected_gene': 'CALR4P', 'score': 7.96}, {'connected_gene': 'OSBPL9', 'score': 0.44}, {'connected_gene': 'GC01P051545', 'score': 0.34}, {'connected_gene': 'LOC105378720', 'score': 0.23}]
chr1 GH01I051303 51303402 51304561 1.35 [{'connected_gene': 'TTC39A', 'score': 11.43}, {'connected_gene': 'ENSG00000236434', 'score': 10.9}, {'connected_gene': 'RNU6-877P', 'score': 10.73}, {'connected_gene': 'EPS15', 'score': 1.26}, {'connected_gene': 'GC01P051297', 'score': 0.44}, {'connected_gene': 'GC01P051316', 'score': 0.39}]
chr1 GH01I051534 51534325 51535709 1.17 [{'connected_gene': 'EPS15', 'score': 6.13}, {'connected_gene': 'CALR4P', 'score': 6.1}, {'connected_gene': 'GC01P051530', 'score': 0.77}, {'connected_gene': 'RNU6-1281P', 'score': 0.77}, {'connected_gene': 'LOC105378720', 'score': 0.37}, {'connected_gene': 'ENSG00000227070', 'score': 0.37}]
chr1 GH01I051521 51521828 51526172 0.43 [{'connected_gene': 'EPS15', 'score': 6.4}, {'connected_gene': 'CALR4P', 'score': 5.98}, {'connected_gene': 'GC01P051530', 'score': 0.44}, {'connected_gene': 'LOC105378720', 'score': 0.44}, {'connected_gene': 'ENSG00000227070', 'score': 0.44}]
chr1 GH01I050852 50852247 50854118 0.67 [{'connected_gene': 'EPS15', 'score': 6.93}, {'connected_gene': 'MRPS6P2', 'score': 0.44}, {'connected_gene': 'GC01M050858', 'score': 0.44}, {'connected_gene': 'FAF1', 'score': 0.14}]
chr1 GH01I051541 51541064 51542011 0.79 [{'connected_gene': 'EPS15', 'score': 12.9}, {'connected_gene': 'ENSG00000227070', 'score': 12.9}, {'connected_gene': 'OSBPL9', 'score': 10.88}, {'connected_gene': 'RNU6-877P', 'score': 10.77}, {'connected_gene': 'ENSG00000238140', 'score': 10.66}, {'connected_gene': 'TTC39A', 'score': 10.21}, {'connected_gene': 'GC01P051545', 'score': 0.77}, {'connected_gene': 'RNU6-1281P', 'score': 0.77}, {'connected_gene': 'LOC105378720', 'score': 0.34}]
chr1 GH01I051548 51548401 51549609 0.63 [{'connected_gene': 'EPS15', 'score': 18.59}, {'connected_gene': 'ENSG00000227070', 'score': 12.12}, {'connected_gene': 'OSBPL9', 'score': 11.86}, {'connected_gene': 'RNU6-877P', 'score': 10.4}, {'connected_gene': 'GC01P051545', 'score': 0.77}, {'connected_gene': 'LOC105378720', 'score': 0.29}]
chr1 GH01I050577 50577947 50578226 0.4 [{'connected_gene': 'EPS15', 'score': 6.71}, {'connected_gene': 'GC01P050583', 'score': 0.77}, {'connected_gene': 'GC01M050536', 'score': 0.26}, {'connected_gene': 'FAF1', 'score': 0.05}]
chr1 GH01I051429 51429588 51430951 0.95 [{'connected_gene': 'EPS15', 'score': 12.04}, {'connected_gene': 'ENSG00000227070', 'score': 12.04}, {'connected_gene': 'ENSG00000238140', 'score': 11.87}, {'connected_gene': 'RNU6-877P', 'score': 11.86}, {'connected_gene': 'TTC39A', 'score': 11.04}, {'connected_gene': 'GC01P051412', 'score': 0.37}, {'connected_gene': 'GC01M051449', 'score': 0.37}, {'connected_gene': 'GC01M051448', 'score': 0.37}]
chr1 GH01I051551 51551885 51552373 0.66 [{'connected_gene': 'EPS15', 'score': 11.6}, {'connected_gene': 'ENSG00000227070', 'score': 11.6}, {'connected_gene': 'ENSG00000238140', 'score': 10.47}, {'connected_gene': 'RNU6-877P', 'score': 9.99}, {'connected_gene': 'GC01P051545', 'score': 0.44}, {'connected_gene': 'OSBPL9', 'score': 0.31}, {'connected_gene': 'LOC105378720', 'score': 0.28}]
chr1 GH01I051433 51433402 51434600 0.99 [{'connected_gene': 'EPS15', 'score': 16.75}, {'connected_gene': 'ENSG00000227070', 'score': 12.04}, {'connected_gene': 'ENSG00000238140', 'score': 11.89}, {'connected_gene': 'RNU6-877P', 'score': 11.84}, {'connected_gene': 'GC01M051449', 'score': 0.39}, {'connected_gene': 'GC01M051448', 'score': 0.39}, {'connected_gene': 'GC01P051412', 'score': 0.34}]
chr1 GH01I051513 51513957 51521639 2.32 [{'connected_gene': 'EPS15', 'score': 557.82}, {'connected_gene': 'LOC105378720', 'score': 550.77}, {'connected_gene': 'ENSG00000227070', 'score': 550.77}, {'connected_gene': 'ENSG00000266993', 'score': 35.02}, {'connected_gene': 'KTI12', 'score': 13.89}, {'connected_gene': 'FAF1', 'score': 11.04}, {'connected_gene': 'LOC100190934', 'score': 10.91}, {'connected_gene': 'ORC1', 'score': 10.79}]
chr1 GH01I050683 50683773 50686253 0.31 [{'connected_gene': 'EPS15', 'score': 6.82}, {'connected_gene': 'CDKN2C', 'score': 4.92}, {'connected_gene': 'GC01M050672', 'score': 0.44}, {'connected_gene': 'GC01M050693', 'score': 0.34}, {'connected_gene': 'FAF1', 'score': 0.06}]
chr1 GH01I050723 50723895 50725911 0.69 [{'connected_gene': 'EPS15', 'score': 6.87}, {'connected_gene': 'CDKN2C', 'score': 4.48}, {'connected_gene': 'GC01P050735', 'score': 0.44}, {'connected_gene': 'GC01P050737', 'score': 0.44}, {'connected_gene': 'GC01P050734', 'score': 0.44}, {'connected_gene': 'GC01P050738', 'score': 0.44}, {'connected_gene': 'GC01P050733', 'score': 0.44}, {'connected_gene': 'GC01P050736', 'score': 0.44}, {'connected_gene': 'GC01P050732', 'score': 0.44}, {'connected_gene': 'GC01M050693', 'score': 0.37}, {'connected_gene': 'FAF1', 'score': 0.07}]
chr1 GH01I051670 51670819 51673485 1.09 [{'connected_gene': 'OSBPL9', 'score': 16.98}, {'connected_gene': 'ENSG00000212624', 'score': 11.71}, {'connected_gene': 'EPS15', 'score': 10.04}, {'connected_gene': 'ENSG00000227070', 'score': 10.04}, {'connected_gene': 'RNU6-877P', 'score': 9.37}, {'connected_gene': 'NRDC', 'score': 4.4}, {'connected_gene': 'GAPDHP51', 'score': 0.28}, {'connected_gene': 'LOC105378719', 'score': 0.25}]
chr1 GH01I051578 51578367 51579000 0.64 [{'connected_gene': 'OSBPL9', 'score': 550.77}, {'connected_gene': 'EPS15', 'score': 10.61}, {'connected_gene': 'ENSG00000227070', 'score': 10.59}, {'connected_gene': 'RNU6-877P', 'score': 9.35}, {'connected_gene': 'CALR4P', 'score': 6.09}, {'connected_gene': 'GC01P051592', 'score': 0.39}, {'connected_gene': 'LOC105378720', 'score': 0.21}]
chr1 GH01I051506 51506449 51507126 1.02 [{'connected_gene': 'LOC105378720', 'score': 0.44}, {'connected_gene': 'EPS15', 'score': 0.39}, {'connected_gene': 'GC01M051476', 'score': 0.37}]
chr1 GH01I051621 51621636 51623475 1.18 [{'connected_gene': 'LOC105378719', 'score': 550.77}, {'connected_gene': 'EPS15', 'score': 10.72}, {'connected_gene': 'ENSG00000227070', 'score': 10.72}, {'connected_gene': 'CALR4P', 'score': 0.31}, {'connected_gene': 'OSBPL9', 'score': 0.25}]
chr1 GH01I051623 51623529 51623678 0.52 [{'connected_gene': 'LOC105378719', 'score': 550.77}, {'connected_gene': 'EPS15', 'score': 10.57}, {'connected_gene': 'ENSG00000227070', 'score': 10.57}, {'connected_gene': 'CALR4P', 'score': 0.31}, {'connected_gene': 'OSBPL9', 'score': 0.25}]
chr1 GH01I050994 50994959 50997391 0.6 [{'connected_gene': 'CDKN2C', 'score': 11.1}, {'connected_gene': 'FAF1', 'score': 11.1}, {'connected_gene': 'EPS15', 'score': 5.05}, {'connected_gene': 'DMRTA2', 'score': 4.48}, {'connected_gene': 'GC01M050995', 'score': 0.39}, {'connected_gene': 'GC01M050992', 'score': 0.39}]
chr1 GH01I050984 50984548 50986186 0.68 [{'connected_gene': 'CDKN2C', 'score': 15.36}, {'connected_gene': 'FAF1', 'score': 11.14}, {'connected_gene': 'EPS15', 'score': 5.94}, {'connected_gene': 'DMRTA2', 'score': 4.97}, {'connected_gene': 'GC01M050995', 'score': 0.31}, {'connected_gene': 'GC01M050992', 'score': 0.31}]
chr1 GH01I051287 51287860 51288894 0.52 [{'connected_gene': 'GC01P051287', 'score': 550.77}, {'connected_gene': 'ENSG00000236434', 'score': 12.16}, {'connected_gene': 'TTC39A', 'score': 10.53}, {'connected_gene': 'RNU6-877P', 'score': 9.76}, {'connected_gene': 'RPS2P8', 'score': 5.47}, {'connected_gene': 'EPS15', 'score': 4.73}, {'connected_gene': 'GC01P051297', 'score': 0.44}]
chr1 GH01I051423 51422296 51424019 1.07 [{'connected_gene': 'ENSG00000238140', 'score': 11.64}, {'connected_gene': 'EPS15', 'score': 11.52}, {'connected_gene': 'RNU6-877P', 'score': 11.2}, {'connected_gene': 'ENSG00000227070', 'score': 10.83}, {'connected_gene': 'TTC39A', 'score': 10.78}, {'connected_gene': 'GC01P051412', 'score': 0.39}, {'connected_gene': 'GC01M051449', 'score': 0.34}, {'connected_gene': 'GC01M051448', 'score': 0.34}]
chr1 GH01I051490 51490601 51492199 0.85 [{'connected_gene': 'GC01M051476', 'score': 550.77}, {'connected_gene': 'EPS15', 'score': 12.04}, {'connected_gene': 'ENSG00000227070', 'score': 12.04}, {'connected_gene': 'ENSG00000238140', 'score': 11.07}, {'connected_gene': 'RNU6-877P', 'score': 10.49}, {'connected_gene': 'LOC105378720', 'score': 0.31}]
chr1 GH01I051504 51504676 51505684 0.76 [{'connected_gene': 'GC01M051476', 'score': 0.39}, {'connected_gene': 'EPS15', 'score': 0.39}, {'connected_gene': 'LOC105378720', 'score': 0.39}]
chr1 GH01I051500 51500985 51502100 0.91 [{'connected_gene': 'GC01M051476', 'score': 0.39}, {'connected_gene': 'EPS15', 'score': 0.37}, {'connected_gene': 'LOC105378720', 'score': 0.37}]
chr1 GH01I051008 51008963 51010358 0.2 [{'connected_gene': 'GC01M050995', 'score': 550.77}, {'connected_gene': 'GC01M050992', 'score': 550.77}, {'connected_gene': 'EPS15', 'score': 5.54}, {'connected_gene': 'CDKN2C', 'score': 0.25}]
chr1 GH01I051410 51410949 51411098 0.31 [{'connected_gene': 'GC01P051412', 'score': 550.77}, {'connected_gene': 'RNU6-877P', 'score': 0.31}, {'connected_gene': 'EPS15', 'score': 0.14}]

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