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
ENST00000540080 [[36190852, 36191270], [36204064, 36204176], [36211599, 36212058]] [[36191053, 36191270], [36204064, 36204176], [36211599, 36211771]]
ENST00000433436 [[36190852, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36210621, 36210658], [36211600, 36212058]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36210621, 36210658], [36211600, 36211771]]
ENST00000538225 [[36190852, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36210621, 36210658], [36211600, 36212058]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36210621, 36210658], [36211600, 36211771]]
ENST00000345519 [[36190919, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36211599, 36212053]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36211599, 36211771]]
ENST00000464497 [[36190927, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36263194, 36263439], [36265417, 36265571], [36298735, 36298900], [36304063, 36304778]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36263194, 36263439], [36265417, 36265470]]
ENST00000470744 [[36190928, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36210621, 36210657], [36211599, 36212055]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36210621, 36210657], [36211599, 36211771]]
ENST00000242285 [[36190933, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36210621, 36210657], [36211599, 36212056]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36210621, 36210657], [36211599, 36211771]]
ENST00000466396 [[36190959, 36191270], [36204064, 36204176], [36209263, 36209317], [36210621, 36210657], [36211599, 36211781]] [[36191053, 36191270], [36204064, 36204176], [36209263, 36209317], [36210621, 36210657], [36211599, 36211771]]
ENST00000396603 [[36190959, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36211599, 36212056]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36211599, 36211771]]
ENST00000493185 [[36191161, 36191270], [36197547, 36197585], [36204064, 36204176], [36211599, 36212054]] [[36191161, 36191270], [36197547, 36197585], [36204064, 36204112]]
NM_001311203 [[36190852, 36190997], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36211599, 36212059]] [[36197564, 36197585], [36198975, 36199093], [36204064, 36204176], [36211599, 36211771]]
NM_001184762 [[36190852, 36191270], [36204064, 36204176], [36211599, 36212059]] [[36191053, 36191270], [36204064, 36204176], [36211599, 36211771]]
NM_001311205 [[36190852, 36191270], [36204064, 36204176], [36210621, 36210657], [36211599, 36212059]] [[36191053, 36191270], [36204064, 36204176], [36210621, 36210657], [36211599, 36211771]]
NM_001311204 [[36190852, 36191270], [36204064, 36204176], [36209263, 36209317], [36210621, 36210657], [36211599, 36212059]] [[36191053, 36191270], [36204064, 36204176], [36209263, 36209317], [36210621, 36210657], [36211599, 36211771]]
NM_001311206 [[36190852, 36191270], [36198975, 36199093], [36204064, 36204176], [36211599, 36212059]] [[36199071, 36199093], [36204064, 36204176], [36211599, 36211771]]
NR_132349 [[36190852, 36191270], [36197547, 36197585], [36204064, 36204176], [36211599, 36212059]] None
NM_001184761 [[36190852, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36211604, 36212059]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36211604, 36211626]]
NM_001833 [[36190852, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36211599, 36212059]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36211599, 36211771]]
NM_001184760 [[36190852, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36210621, 36210657], [36211599, 36212059]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36210621, 36210657], [36211599, 36211771]]
NM_001076677 [[36190852, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36211599, 36212059]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36211599, 36211771]]
NM_007096 [[36190852, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36210621, 36210657], [36211599, 36212059]] [[36191053, 36191270], [36197547, 36197585], [36198975, 36199093], [36204064, 36204176], [36209263, 36209317], [36210621, 36210657], [36211599, 36211771]]
Promoter
Chrom Start End Description
chr9 36190893 36190904 CAGE_peak_2_at_CLTA_5end
chr9 36190905 36190966 CAGE_peak_1_at_CLTA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I036213 36213351 36213505 0.53 [{'connected_gene': 'CCIN', 'score': 55.5}, {'connected_gene': 'FAM221B', 'score': 41.69}, {'connected_gene': 'CLTA', 'score': 11.93}, {'connected_gene': 'GNE', 'score': 10.53}, {'connected_gene': 'GLIPR2', 'score': 10.31}, {'connected_gene': 'SPAG8', 'score': 7.03}, {'connected_gene': 'RNF38', 'score': 1.55}, {'connected_gene': 'PIR52930', 'score': 0.44}]
chr9 GH09I036147 36147382 36149851 1.19 [{'connected_gene': 'CCIN', 'score': 12.59}, {'connected_gene': 'CLTA', 'score': 11.26}, {'connected_gene': 'ZCCHC7', 'score': 10.81}, {'connected_gene': 'RECK', 'score': 9.84}, {'connected_gene': 'GLIPR2', 'score': 7.63}, {'connected_gene': 'GNE', 'score': 5.55}]
chr9 GH09I036169 36169371 36169430 0.79 [{'connected_gene': 'CCIN', 'score': 550.77}, {'connected_gene': 'CLTA', 'score': 0.34}]
chr9 GH09I035913 35913401 35921082 1.42 [{'connected_gene': 'PIGO', 'score': 33.92}, {'connected_gene': 'ARHGEF39', 'score': 23.34}, {'connected_gene': 'RGP1', 'score': 20.5}, {'connected_gene': 'TLN1', 'score': 19.76}, {'connected_gene': 'ENSG00000231393', 'score': 18.15}, {'connected_gene': 'GBA2', 'score': 16.51}, {'connected_gene': 'SPAAR', 'score': 16.05}, {'connected_gene': 'CLTA', 'score': 11.84}, {'connected_gene': 'RECK', 'score': 11.56}, {'connected_gene': 'NDUFA5P4', 'score': 10.85}, {'connected_gene': 'OR13J1', 'score': 10.83}, {'connected_gene': 'FAM221B', 'score': 10.83}, {'connected_gene': 'TMEM8B', 'score': 10.8}, {'connected_gene': 'SPAG8', 'score': 10.29}, {'connected_gene': 'ENSG00000227388', 'score': 10.15}, {'connected_gene': 'NPR2', 'score': 10.13}, {'connected_gene': 'CD72', 'score': 9.94}, {'connected_gene': 'HINT2', 'score': 9.9}, {'connected_gene': 'ENSG00000228843', 'score': 9.88}, {'connected_gene': 'MSMP', 'score': 9.88}, {'connected_gene': 'GLIPR2', 'score': 9.79}, {'connected_gene': 'CREB3', 'score': 9.52}, {'connected_gene': 'OR2S1P', 'score': 8.33}, {'connected_gene': 'HRCT1', 'score': 7.93}, {'connected_gene': 'GC09P035912', 'score': 0.77}, {'connected_gene': 'PGAM1P2', 'score': 0.31}]
chr9 GH09I036283 36283954 36284931 0.64 [{'connected_gene': 'ZCCHC7', 'score': 40.2}, {'connected_gene': 'HMGB3P24', 'score': 19.37}, {'connected_gene': 'ARHGEF39', 'score': 12.58}, {'connected_gene': 'SPAG8', 'score': 12.4}, {'connected_gene': 'TMEM8B', 'score': 11.31}, {'connected_gene': 'RUSC2', 'score': 11.16}, {'connected_gene': 'ENSG00000231393', 'score': 10.39}, {'connected_gene': 'RNF38', 'score': 10.16}, {'connected_gene': 'RGP1', 'score': 10.1}, {'connected_gene': 'FAM221B', 'score': 5.85}, {'connected_gene': 'GNE', 'score': 5.47}, {'connected_gene': 'PIR32038', 'score': 0.37}, {'connected_gene': 'LOC102724322', 'score': 0.31}, {'connected_gene': 'CLTA', 'score': 0.16}]
chr9 GH09I036294 36294078 36294257 0.24 [{'connected_gene': 'OR2S2', 'score': 10.15}, {'connected_gene': 'GNE', 'score': 7.83}, {'connected_gene': 'OR13J1', 'score': 3.14}, {'connected_gene': 'PIR32038', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.28}, {'connected_gene': 'CLTA', 'score': 0.15}]
chr9 GH09I036138 36138503 36146043 1.32 [{'connected_gene': 'GLIPR2', 'score': 20.19}, {'connected_gene': 'CCIN', 'score': 13.43}, {'connected_gene': 'CLTA', 'score': 11.25}, {'connected_gene': 'HMGB3P24', 'score': 5.05}]
chr9 GH09I036187 36187074 36188350 0.46 [{'connected_gene': 'GLIPR2', 'score': 11.83}, {'connected_gene': 'CLTA', 'score': 0.77}, {'connected_gene': 'CCIN', 'score': 0.37}]
chr9 GH09I036063 36063442 36064880 0.49 [{'connected_gene': 'GLIPR2', 'score': 11.4}, {'connected_gene': 'CLTA', 'score': 9.84}, {'connected_gene': 'GNE', 'score': 9.22}, {'connected_gene': 'ENSG00000276730', 'score': 0.44}, {'connected_gene': 'RECK', 'score': 0.31}]
chr9 GH09I036193 36193824 36193912 0.4 [{'connected_gene': 'GLIPR2', 'score': 10.79}, {'connected_gene': 'CLTA', 'score': 0.77}, {'connected_gene': 'PIR52930', 'score': 0.31}]
chr9 GH09I036456 36456487 36459471 0.97 [{'connected_gene': 'RNF38', 'score': 12.48}, {'connected_gene': 'CLTA', 'score': 10.44}, {'connected_gene': 'GNE', 'score': 9.53}, {'connected_gene': 'MRPS21P4', 'score': 0.25}]
chr9 GH09I036217 36216244 36216393 0.67 [{'connected_gene': 'CLTA', 'score': 11.54}, {'connected_gene': 'HMGB3P24', 'score': 11.09}, {'connected_gene': 'GNE', 'score': 10.95}, {'connected_gene': 'PIR52930', 'score': 0.77}]
chr9 GH09I036016 36016898 36019790 0.51 [{'connected_gene': 'CLTA', 'score': 11.17}, {'connected_gene': 'HRCT1', 'score': 10.78}, {'connected_gene': 'GLIPR2', 'score': 10.72}, {'connected_gene': 'ENSG00000227388', 'score': 10.09}, {'connected_gene': 'NPR2', 'score': 10.09}, {'connected_gene': 'GNE', 'score': 9.42}, {'connected_gene': 'OR2AM1P', 'score': 0.77}, {'connected_gene': 'OR2S1P', 'score': 0.44}]
chr9 GH09I036189 36189718 36192764 2.25 [{'connected_gene': 'CLTA', 'score': 556.34}, {'connected_gene': 'RGP1', 'score': 13.03}, {'connected_gene': 'ARHGEF39', 'score': 12.23}, {'connected_gene': 'ZCCHC7', 'score': 11.98}, {'connected_gene': 'GLIPR2', 'score': 10.8}, {'connected_gene': 'GNE', 'score': 4.98}, {'connected_gene': 'PIR52930', 'score': 0.31}]
chr9 GH09I036267 36267867 36268844 0.46 [{'connected_gene': 'RNU4-53P', 'score': 550.77}, {'connected_gene': 'GNE', 'score': 16.73}, {'connected_gene': 'LOC102724322', 'score': 0.39}, {'connected_gene': 'CLTA', 'score': 0.18}]
chr9 GH09I036173 36173803 36176135 0.38 [{'connected_gene': 'GNE', 'score': 8.3}, {'connected_gene': 'CCIN', 'score': 0.44}, {'connected_gene': 'CLTA', 'score': 0.37}]
chr9 GH09I036295 36295025 36299058 0.67 [{'connected_gene': 'GNE', 'score': 14.25}, {'connected_gene': 'FAM221B', 'score': 5.31}, {'connected_gene': 'HMGB3P24', 'score': 4.64}, {'connected_gene': 'PIR32038', 'score': 0.77}, {'connected_gene': 'LOC102724322', 'score': 0.28}, {'connected_gene': 'CLTA', 'score': 0.14}]
chr9 GH09I036292 36292693 36293393 0.43 [{'connected_gene': 'GNE', 'score': 14.05}, {'connected_gene': 'RNF38', 'score': 4.57}, {'connected_gene': 'PIR32038', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.28}, {'connected_gene': 'CLTA', 'score': 0.15}]
chr9 GH09I036206 36206170 36209263 0.98 [{'connected_gene': 'GNE', 'score': 16.02}, {'connected_gene': 'RNU4-53P', 'score': 11.22}, {'connected_gene': 'GLIPR2', 'score': 11.17}, {'connected_gene': 'CLTA', 'score': 5.57}, {'connected_gene': 'PIR52930', 'score': 0.39}]
chr9 GH09I036273 36273504 36273673 0.63 [{'connected_gene': 'GNE', 'score': 0.77}, {'connected_gene': 'RNU4-53P', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.37}, {'connected_gene': 'CLTA', 'score': 0.18}]
chr9 GH09I036275 36275141 36275436 0.2 [{'connected_gene': 'GNE', 'score': 550.77}, {'connected_gene': 'RNU4-53P', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.37}, {'connected_gene': 'CLTA', 'score': 0.18}]
chr9 GH09I036276 36276273 36277710 1.24 [{'connected_gene': 'GNE', 'score': 567.07}, {'connected_gene': 'RNU4-53P', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.37}, {'connected_gene': 'CLTA', 'score': 0.17}]
chr9 GH09I036256 36256836 36259443 2.07 [{'connected_gene': 'GNE', 'score': 565.94}, {'connected_gene': 'LOC102724322', 'score': 550.77}, {'connected_gene': 'TMEM8B', 'score': 11.22}, {'connected_gene': 'NPR2', 'score': 10.66}, {'connected_gene': 'CLTA', 'score': 10.5}, {'connected_gene': 'RNU4-53P', 'score': 0.44}]
chr9 GH09I036249 36249001 36249400 0.31 [{'connected_gene': 'GNE', 'score': 11.61}, {'connected_gene': 'LOC102724322', 'score': 0.44}, {'connected_gene': 'PIR52930', 'score': 0.31}, {'connected_gene': 'CLTA', 'score': 0.22}]
chr9 GH09I036232 36232005 36232128 0.26 [{'connected_gene': 'GNE', 'score': 2.64}, {'connected_gene': 'PIR52930', 'score': 0.39}, {'connected_gene': 'LOC102724322', 'score': 0.31}, {'connected_gene': 'CLTA', 'score': 0.26}]
chr9 GH09I036233 36232968 36233108 0.27 [{'connected_gene': 'GNE', 'score': 5.45}, {'connected_gene': 'PIR52930', 'score': 0.39}, {'connected_gene': 'LOC102724322', 'score': 0.34}, {'connected_gene': 'CLTA', 'score': 0.26}]
chr9 GH09I036216 36216732 36220736 0.49 [{'connected_gene': 'PIR52930', 'score': 550.77}, {'connected_gene': 'GNE', 'score': 26.29}, {'connected_gene': 'CLTA', 'score': 11.54}, {'connected_gene': 'RNU4-53P', 'score': 11.24}, {'connected_gene': 'HMGB3P24', 'score': 11.09}, {'connected_gene': 'GLIPR2', 'score': 10.39}]

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