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
ENST00000471702 [[132276985, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132339975, 132340136], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363735], [132400757, 132400934], [132401546, 132401662], [132402242, 132402368], [132403397, 132403638], [132405103, 132405231], [132405994, 132406070], [132407493, 132407735], [132407917, 132408107], [132409371, 132409494], [132410035, 132410130], [132411497, 132411662], [132413670, 132413809], [132415574, 132415657], [132416103, 132416206], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132440806, 132441303]] [[132416182, 132416206], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132440806, 132441199]]
ENST00000474871 [[132399452, 132400934], [132401546, 132401662], [132402242, 132402368], [132403397, 132405231], [132405994, 132406070], [132407493, 132407735], [132407917, 132408107], [132409371, 132409494], [132410035, 132410130], [132411497, 132411662], [132413670, 132413714]] None
ENST00000326682 [[132399453, 132400934], [132401546, 132401662], [132402242, 132402368], [132403397, 132403638], [132405103, 132405231], [132405994, 132406070], [132407493, 132407735], [132407917, 132408107], [132409371, 132409494], [132410035, 132410130], [132411497, 132411662], [132413670, 132413809], [132416103, 132416206], [132418196, 132418294], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132440806, 132441276]] [[132413782, 132413809], [132416103, 132416206], [132418196, 132418294], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132440806, 132441199]]
ENST00000493732 [[132400125, 132401662], [132402242, 132402368], [132403397, 132403667]] None
ENST00000490993 [[132400274, 132400934], [132401546, 132401662], [132402242, 132402368], [132403397, 132403638], [132405103, 132405231], [132405994, 132406070], [132407493, 132407735], [132407917, 132408107], [132409371, 132409494], [132410035, 132410130], [132411497, 132412709], [132413670, 132413809], [132415574, 132415657], [132416103, 132416206], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132436199]] None
ENST00000465756 [[132400468, 132400934], [132401546, 132401662], [132402242, 132402368], [132403397, 132403638], [132405103, 132405231], [132405994, 132406070], [132407493, 132407735], [132407917, 132408107], [132409371, 132409494], [132410035, 132410130], [132411497, 132411662], [132413670, 132413809], [132416103, 132416206], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132441100, 132441248]] [[132416182, 132416206], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132441100, 132441199]]
ENST00000512094 [[132400471, 132400934], [132402242, 132402368], [132403397, 132403529]] [[132400928, 132400934], [132402242, 132402368], [132403397, 132403529]]
ENST00000337331 [[132400471, 132400934], [132401546, 132401662], [132402242, 132402368], [132403397, 132403638], [132405103, 132405231], [132405994, 132406070], [132407493, 132407735], [132407917, 132408107], [132409371, 132409494], [132410035, 132410130], [132411497, 132411662], [132413670, 132413809], [132415574, 132415657], [132416103, 132416206], [132418196, 132418294], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132440806, 132441286]] [[132400753, 132400934], [132401546, 132401662], [132402242, 132402368], [132403397, 132403638], [132405103, 132405231], [132405994, 132406070], [132407493, 132407735], [132407917, 132408107], [132409371, 132409494], [132410035, 132410130], [132411497, 132411662], [132413670, 132413809], [132415574, 132415657], [132416103, 132416206], [132418196, 132418294], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132440806, 132441199]]
ENST00000515289 [[132410069, 132410130], [132411497, 132411662], [132413670, 132414000]] None
ENST00000469232 [[132418847, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132436798, 132436961], [132437837, 132437988], [132438548, 132438674], [132440806, 132440851]] [[132436911, 132436961], [132437837, 132437988], [132438548, 132438674], [132440806, 132440851]]
ENST00000476742 [[132424517, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435657]] None
ENST00000471145 [[132436836, 132436961], [132437837, 132437988], [132438548, 132438674], [132440518, 132440551]] None
ENST00000343113 [[132436911, 132436961], [132437837, 132437988], [132438548, 132438674], [132440806, 132441276]] [[132436911, 132436961], [132437837, 132437988], [132438548, 132438674], [132440806, 132441199]]
ENST00000383282 [[132440558, 132440618], [132440806, 132441232]] [[132440558, 132440618], [132440806, 132441199]]
NM_153240 [[132399452, 132400934], [132401546, 132401662], [132402242, 132402368], [132403397, 132403638], [132405103, 132405231], [132405994, 132406070], [132407493, 132407735], [132407917, 132408107], [132409371, 132409494], [132410035, 132410130], [132411497, 132411662], [132413670, 132413809], [132415574, 132415657], [132416103, 132416206], [132418196, 132418294], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132440806, 132441303]] [[132400753, 132400934], [132401546, 132401662], [132402242, 132402368], [132403397, 132403638], [132405103, 132405231], [132405994, 132406070], [132407493, 132407735], [132407917, 132408107], [132409371, 132409494], [132410035, 132410130], [132411497, 132411662], [132413670, 132413809], [132415574, 132415657], [132416103, 132416206], [132418196, 132418294], [132418761, 132418905], [132419177, 132419292], [132420273, 132420377], [132423041, 132423215], [132424583, 132424658], [132426944, 132427101], [132431969, 132432130], [132433928, 132434062], [132435600, 132435753], [132437837, 132437988], [132438548, 132438674], [132440806, 132441199]]
Promoter
Chrom Start End Description
chr3 132441209 132441286 CAGE_peak_1_at_NPHP3_5end
chr3 132441355 132441366 CAGE_peak_2_at_NPHP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I132731 132731257 132731326 0.52 [{'connected_gene': 'BFSP2', 'score': 10.18}, {'connected_gene': 'TFP1', 'score': 9.7}, {'connected_gene': 'TOPBP1', 'score': 9.7}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.44}, {'connected_gene': 'NPHP3-AS1', 'score': 0.44}, {'connected_gene': 'NPHP3', 'score': 0.44}, {'connected_gene': 'LOC105374115', 'score': 0.19}]
chr3 GH03I132657 132657665 132662187 2.04 [{'connected_gene': 'ACAD11', 'score': 567.63}, {'connected_gene': 'UBA5', 'score': 550.44}, {'connected_gene': 'NPHP3', 'score': 29.95}, {'connected_gene': 'DNAJC13', 'score': 9.81}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.21}]
chr3 GH03I132636 132636879 132638380 0.31 [{'connected_gene': 'ACAD11', 'score': 10.72}, {'connected_gene': 'NPHP3', 'score': 9.39}, {'connected_gene': 'HSPA8P19', 'score': 0.44}, {'connected_gene': 'ACKR4', 'score': 0.26}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.18}]
chr3 GH03I132540 132540979 132544446 1.09 [{'connected_gene': 'UBA5', 'score': 11.66}, {'connected_gene': 'ACKR4', 'score': 10.77}, {'connected_gene': 'NPHP3', 'score': 9.86}, {'connected_gene': 'DNAJC13', 'score': 7.53}]
chr3 GH03I132654 132654098 132656272 1.27 [{'connected_gene': 'UBA5', 'score': 550.77}, {'connected_gene': 'NPHP3', 'score': 9.44}, {'connected_gene': 'ACAD11', 'score': 6.44}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.2}]
chr3 GH03I132267 132267147 132268410 0.31 [{'connected_gene': 'RPL7P16', 'score': 9.88}, {'connected_gene': 'NPHP3', 'score': 5.41}, {'connected_gene': 'CPNE4', 'score': 0.37}]
chr3 GH03I132782 132782539 132784067 0.31 [{'connected_gene': 'TMEM108', 'score': 4.55}, {'connected_gene': 'LOC105374115', 'score': 0.34}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.21}, {'connected_gene': 'NPHP3-AS1', 'score': 0.21}, {'connected_gene': 'NPHP3', 'score': 0.21}]
chr3 GH03I133568 133567881 133576833 2.48 [{'connected_gene': 'CDV3', 'score': 556.32}, {'connected_gene': 'SRPRB', 'score': 9.46}, {'connected_gene': 'TFP1', 'score': 6.32}, {'connected_gene': 'RAB6B', 'score': 5.0}, {'connected_gene': 'NPHP3', 'score': 4.62}, {'connected_gene': 'UBA5', 'score': 4.14}, {'connected_gene': 'GC03P133569', 'score': 0.77}]
chr3 GH03I132771 132771882 132773720 0.2 [{'connected_gene': 'NPHP3', 'score': 12.08}, {'connected_gene': 'BFSP2', 'score': 10.47}, {'connected_gene': 'TMEM108', 'score': 4.42}, {'connected_gene': 'LOC105374115', 'score': 0.29}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-AS1', 'score': 0.23}]
chr3 GH03I133404 133404254 133405411 0.2 [{'connected_gene': 'NPHP3', 'score': 4.89}, {'connected_gene': 'BFSP2', 'score': 0.77}, {'connected_gene': 'ENSG00000249820', 'score': 0.44}]
chr3 GH03I132667 132667457 132669164 0.67 [{'connected_gene': 'NPHP3', 'score': 4.36}, {'connected_gene': 'ACAD11', 'score': 0.44}, {'connected_gene': 'UBA5', 'score': 0.39}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-AS1', 'score': 0.23}]
chr3 GH03I132593 132593181 132595472 0.69 [{'connected_gene': 'NPHP3', 'score': 14.22}, {'connected_gene': 'ACAD11', 'score': 6.52}, {'connected_gene': 'ACKR4', 'score': 0.77}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.13}, {'connected_gene': 'DNAJC13', 'score': 0.1}]
chr3 GH03I132205 132205098 132206211 0.2 [{'connected_gene': 'NPHP3', 'score': 5.12}, {'connected_gene': 'RPL7P16', 'score': 5.03}, {'connected_gene': 'GC03M132230', 'score': 0.34}, {'connected_gene': 'TRC-GCA6-1', 'score': 0.34}, {'connected_gene': 'LOC729674', 'score': 0.29}, {'connected_gene': 'CPNE4', 'score': 0.18}]
chr3 GH03I132776 132776689 132777970 0.2 [{'connected_gene': 'NPHP3', 'score': 8.28}, {'connected_gene': 'TMEM108', 'score': 4.33}, {'connected_gene': 'LOC105374115', 'score': 0.31}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-AS1', 'score': 0.22}]
chr3 GH03I133535 133535337 133537340 0.96 [{'connected_gene': 'NPHP3', 'score': 12.7}, {'connected_gene': 'CDV3', 'score': 5.23}, {'connected_gene': 'ENSG00000272832', 'score': 0.44}, {'connected_gene': 'GC03P133492', 'score': 0.25}]
chr3 GH03I132447 132447568 132449699 0.73 [{'connected_gene': 'NPHP3', 'score': 7.38}, {'connected_gene': 'ACKR4', 'score': 5.37}, {'connected_gene': 'DNAJC13', 'score': 3.27}]
chr3 GH03I132869 132869653 132873573 0.31 [{'connected_gene': 'NPHP3', 'score': 7.89}, {'connected_gene': 'GC03P132823', 'score': 0.25}, {'connected_gene': 'NPHP3-AS1', 'score': 0.11}, {'connected_gene': 'ENSG00000249725', 'score': 0.1}]
chr3 GH03I132404 132404422 132406079 0.38 [{'connected_gene': 'NPHP3', 'score': 6.97}, {'connected_gene': 'DNAJC13', 'score': 6.32}, {'connected_gene': 'ACKR4', 'score': 4.4}, {'connected_gene': 'NIP7P2', 'score': 0.77}]
chr3 GH03I132446 132444001 132444400 0.31 [{'connected_gene': 'NPHP3', 'score': 7.08}, {'connected_gene': 'DNAJC13', 'score': 0.31}, {'connected_gene': 'ACKR4', 'score': 0.1}]
chr3 GH03I132549 132549800 132551201 0.89 [{'connected_gene': 'NPHP3', 'score': 9.83}, {'connected_gene': 'DNAJC13', 'score': 7.63}, {'connected_gene': 'ACKR4', 'score': 0.25}]
chr3 GH03I132787 132787257 132789056 0.83 [{'connected_gene': 'NPHP3', 'score': 8.35}, {'connected_gene': 'LOC105374115', 'score': 0.37}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.2}, {'connected_gene': 'NPHP3-AS1', 'score': 0.2}]
chr3 GH03I132721 132721000 132724084 1.95 [{'connected_gene': 'NPHP3', 'score': 589.66}, {'connected_gene': 'NPHP3-ACAD11', 'score': 550.77}, {'connected_gene': 'NPHP3-AS1', 'score': 550.77}, {'connected_gene': 'LOC105374115', 'score': 0.18}]
chr3 GH03I132911 132911511 132912602 0.59 [{'connected_gene': 'NPHP3', 'score': 4.64}, {'connected_gene': 'GC03P132823', 'score': 0.17}, {'connected_gene': 'ENSG00000249725', 'score': 0.13}]
chr3 GH03I132415 132415745 132419843 2.19 [{'connected_gene': 'DNAJC13', 'score': 553.51}, {'connected_gene': 'NPHP3', 'score': 7.16}, {'connected_gene': 'ACKR4', 'score': 0.1}]
chr3 GH03I132803 132803665 132805428 0.43 [{'connected_gene': 'LOC105374115', 'score': 550.77}, {'connected_gene': 'NPHP3', 'score': 10.74}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.18}, {'connected_gene': 'NPHP3-AS1', 'score': 0.18}]
chr3 GH03I132726 132726437 132726586 0.62 [{'connected_gene': 'NPHP3-ACAD11', 'score': 0.77}, {'connected_gene': 'NPHP3-AS1', 'score': 0.77}, {'connected_gene': 'NPHP3', 'score': 0.77}, {'connected_gene': 'LOC105374115', 'score': 0.18}]
chr3 GH03I132703 132703817 132703966 0.2 [{'connected_gene': 'TFP1', 'score': 10.38}, {'connected_gene': 'TOPBP1', 'score': 10.38}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.37}, {'connected_gene': 'NPHP3-AS1', 'score': 0.37}, {'connected_gene': 'NPHP3', 'score': 0.37}, {'connected_gene': 'ACAD11', 'score': 0.26}]
chr3 GH03I132867 132867566 132868641 0.38 [{'connected_gene': 'ENSG00000249725', 'score': 9.76}, {'connected_gene': 'TMEM108', 'score': 9.75}, {'connected_gene': 'NPHP3', 'score': 7.89}, {'connected_gene': 'GC03P132823', 'score': 0.26}, {'connected_gene': 'NPHP3-AS1', 'score': 0.11}]
chr3 GH03I133408 133408614 133409610 0.51 [{'connected_gene': 'ENSG00000249820', 'score': 550.77}, {'connected_gene': 'NPHP3', 'score': 4.48}, {'connected_gene': 'SRPRB', 'score': 4.06}, {'connected_gene': 'BFSP2', 'score': 0.44}]

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