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
ENST00000564682 [[28565235, 28565418], [28592375, 28592465], [28596233, 28596724]] None
ENST00000569581 [[28565240, 28565418], [28592375, 28592465], [28596233, 28596309], [28596968, 28597041], [28600420, 28600741]] None
ENST00000317058 [[28565246, 28565418], [28592375, 28592465], [28596233, 28596309], [28596968, 28597041], [28600420, 28600485], [28601416, 28601546], [28601616, 28601763], [28601951, 28601987], [28602093, 28602256], [28602910, 28603111]] [[28592390, 28592465], [28596233, 28596309], [28596968, 28597041], [28600420, 28600485], [28601416, 28601546], [28601616, 28601763], [28601951, 28601987], [28602093, 28602256], [28602910, 28603027]]
ENST00000567564 [[28565292, 28565418], [28592375, 28592465], [28596233, 28596309], [28596968, 28597041], [28599930, 28600012], [28600420, 28600485], [28601416, 28601546], [28601616, 28601762]] [[28592390, 28592465], [28596233, 28596309], [28596968, 28597041], [28599930, 28600012], [28600420, 28600485], [28601416, 28601444]]
ENST00000567447 [[28601437, 28601763], [28601951, 28601987], [28602093, 28602256], [28602910, 28603111]] None
ENST00000564023 [[28601705, 28601763], [28601951, 28601958], [28602166, 28602256], [28602910, 28603109]] [[28601705, 28601763], [28601951, 28601958], [28602166, 28602256], [28602910, 28603027]]
ENST00000565945 [[28601920, 28602256], [28602910, 28603109]] None
NM_138414 [[28565248, 28565418], [28592375, 28592465], [28596233, 28596309], [28596968, 28597041], [28600420, 28600485], [28601416, 28601546], [28601616, 28601763], [28601951, 28601987], [28602093, 28602256], [28602910, 28603111]] [[28592390, 28592465], [28596233, 28596309], [28596968, 28597041], [28600420, 28600485], [28601416, 28601546], [28601616, 28601763], [28601951, 28601987], [28602093, 28602256], [28602910, 28603027]]
Promoter
Chrom Start End Description
chr16 28565230 28565257 CAGE_peak_1_at_CCDC101_5end
chr16 28565265 28565275 CAGE_peak_3_at_CCDC101_5end
chr16 28565280 28565328 CAGE_peak_2_at_CCDC101_5end
chr16 28565331 28565338 CAGE_peak_4_at_CCDC101_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I028828 28828651 28828866 0.29 [{'connected_gene': 'CD19', 'score': 12.43}, {'connected_gene': 'RABEP2', 'score': 12.42}, {'connected_gene': 'NFATC2IP', 'score': 2.6}, {'connected_gene': 'SH2B1', 'score': 2.07}, {'connected_gene': 'SGF29', 'score': 2.04}, {'connected_gene': 'LAT', 'score': 1.48}, {'connected_gene': 'ENSG00000275807', 'score': 0.77}, {'connected_gene': 'ATXN2L', 'score': 0.44}, {'connected_gene': 'ENSG00000260570', 'score': 0.44}, {'connected_gene': 'GC16M028787', 'score': 0.22}]
chr16 GH16I028945 28945201 28946289 1.51 [{'connected_gene': 'NFATC2IP', 'score': 37.11}, {'connected_gene': 'ENSG00000198106', 'score': 36.31}, {'connected_gene': 'ENSG00000260853', 'score': 36.26}, {'connected_gene': 'SPNS1', 'score': 34.0}, {'connected_gene': 'ENSG00000260367', 'score': 33.78}, {'connected_gene': 'SMG1P2', 'score': 30.22}, {'connected_gene': 'ATXN2L', 'score': 29.16}, {'connected_gene': 'NPIPB12', 'score': 24.85}, {'connected_gene': 'CLN3', 'score': 20.27}, {'connected_gene': 'SGF29', 'score': 18.95}, {'connected_gene': 'ENSG00000261766', 'score': 13.07}, {'connected_gene': 'SH2B1', 'score': 11.52}, {'connected_gene': 'ENSG00000251417', 'score': 11.33}, {'connected_gene': 'RRN3P2', 'score': 10.78}, {'connected_gene': 'CDIPT', 'score': 9.9}, {'connected_gene': 'CDC37P1', 'score': 7.18}, {'connected_gene': 'RABEP2', 'score': 0.44}]
chr16 GH16I028950 28950121 28952518 2.03 [{'connected_gene': 'NFATC2IP', 'score': 588.38}, {'connected_gene': 'SGF29', 'score': 36.07}, {'connected_gene': 'ATXN2L', 'score': 26.78}, {'connected_gene': 'ENSG00000260853', 'score': 25.74}, {'connected_gene': 'SMG1P2', 'score': 24.57}, {'connected_gene': 'SPNS1', 'score': 20.45}, {'connected_gene': 'ENSG00000260367', 'score': 18.21}, {'connected_gene': 'EIF3C', 'score': 14.91}, {'connected_gene': 'SULT1A2', 'score': 14.84}, {'connected_gene': 'NPIPB8', 'score': 13.25}, {'connected_gene': 'NPIPB10P', 'score': 12.59}, {'connected_gene': 'CLN3', 'score': 10.71}, {'connected_gene': 'EIF3CL', 'score': 10.33}, {'connected_gene': 'MVP', 'score': 10.18}, {'connected_gene': 'ENSG00000238045', 'score': 9.78}, {'connected_gene': 'KCTD13', 'score': 4.89}, {'connected_gene': 'TMEM219', 'score': 4.67}, {'connected_gene': 'MIR4517', 'score': 0.44}]
chr16 GH16I029007 29007585 29010790 1.39 [{'connected_gene': 'SPNS1', 'score': 16.27}, {'connected_gene': 'ENSG00000260853', 'score': 15.39}, {'connected_gene': 'NFATC2IP', 'score': 14.95}, {'connected_gene': 'SMG1P2', 'score': 14.91}, {'connected_gene': 'INO80E', 'score': 14.13}, {'connected_gene': 'ENSG00000260367', 'score': 11.86}, {'connected_gene': 'RRN3P2', 'score': 10.72}, {'connected_gene': 'TUFM', 'score': 10.71}, {'connected_gene': 'ENSG00000198106', 'score': 10.18}, {'connected_gene': 'SGF29', 'score': 9.76}, {'connected_gene': 'CDC37P1', 'score': 6.17}, {'connected_gene': 'CLN3', 'score': 4.63}, {'connected_gene': 'GC16M028992', 'score': 0.44}, {'connected_gene': 'NPIPB10P', 'score': 0.31}]
chr16 GH16I028936 28936020 28937154 1.61 [{'connected_gene': 'RABEP2', 'score': 550.77}, {'connected_gene': 'ENSG00000260853', 'score': 32.95}, {'connected_gene': 'SPNS1', 'score': 32.22}, {'connected_gene': 'NFATC2IP', 'score': 30.54}, {'connected_gene': 'ATXN2L', 'score': 28.53}, {'connected_gene': 'SMG1P2', 'score': 28.09}, {'connected_gene': 'ENSG00000260367', 'score': 27.89}, {'connected_gene': 'NPIPB12', 'score': 24.35}, {'connected_gene': 'ENSG00000198106', 'score': 23.5}, {'connected_gene': 'SGF29', 'score': 20.16}, {'connected_gene': 'CLN3', 'score': 11.21}, {'connected_gene': 'RRN3P2', 'score': 10.77}, {'connected_gene': 'NPIPB10P', 'score': 10.42}, {'connected_gene': 'ENSG00000238045', 'score': 9.83}, {'connected_gene': 'CD19', 'score': 0.77}]
chr16 GH16I028844 28844721 28847684 2.1 [{'connected_gene': 'TUFM', 'score': 629.56}, {'connected_gene': 'SH2B1', 'score': 564.52}, {'connected_gene': 'ATXN2L', 'score': 38.82}, {'connected_gene': 'NFATC2IP', 'score': 29.99}, {'connected_gene': 'SPNS1', 'score': 29.16}, {'connected_gene': 'ENSG00000260853', 'score': 28.84}, {'connected_gene': 'SMG1P2', 'score': 26.89}, {'connected_gene': 'NPIPB10P', 'score': 24.91}, {'connected_gene': 'ENSG00000260367', 'score': 23.68}, {'connected_gene': 'NPIPB12', 'score': 22.76}, {'connected_gene': 'PRRT2', 'score': 20.74}, {'connected_gene': 'ENSG00000198106', 'score': 19.95}, {'connected_gene': 'NPIPB8', 'score': 14.04}, {'connected_gene': 'SGF29', 'score': 11.98}, {'connected_gene': 'ENSG00000261766', 'score': 11.88}, {'connected_gene': 'RPS15AP33', 'score': 11.71}, {'connected_gene': 'RRN3P2', 'score': 10.64}, {'connected_gene': 'ENSG00000251417', 'score': 10.59}, {'connected_gene': 'CDC37P1', 'score': 10.57}, {'connected_gene': 'ENSG00000238045', 'score': 9.83}, {'connected_gene': 'NPIPB9', 'score': 9.77}, {'connected_gene': 'NPIPB7', 'score': 9.76}, {'connected_gene': 'MIR4721', 'score': 0.77}, {'connected_gene': 'GC16M028787', 'score': 0.28}]
chr16 GH16I028595 28595801 28598825 1.83 [{'connected_gene': 'SULT1A2', 'score': 591.46}, {'connected_gene': 'GC16P028596', 'score': 550.77}, {'connected_gene': 'TUFM', 'score': 40.0}, {'connected_gene': 'SGF29', 'score': 12.17}, {'connected_gene': 'ENSG00000278665', 'score': 0.77}]
chr16 GH16I028572 28572235 28573674 0.51 [{'connected_gene': 'SULT1A2', 'score': 41.83}, {'connected_gene': 'CLN3', 'score': 11.32}, {'connected_gene': 'APOBR', 'score': 11.32}, {'connected_gene': 'NPIPB7', 'score': 11.08}, {'connected_gene': 'GC16M028560', 'score': 0.77}, {'connected_gene': 'SGF29', 'score': 0.37}, {'connected_gene': 'GC16P028596', 'score': 0.34}]
chr16 GH16I028861 28861845 28867395 2.11 [{'connected_gene': 'SH2B1', 'score': 565.66}, {'connected_gene': 'ENSG00000261766', 'score': 565.6}, {'connected_gene': 'TUFM', 'score': 58.99}, {'connected_gene': 'ATXN2L', 'score': 40.14}, {'connected_gene': 'NPIPB12', 'score': 26.73}, {'connected_gene': 'NFATC2IP', 'score': 25.91}, {'connected_gene': 'ENSG00000260853', 'score': 24.31}, {'connected_gene': 'SULT1A2', 'score': 19.83}, {'connected_gene': 'NPIPB10P', 'score': 19.32}, {'connected_gene': 'ENSG00000198106', 'score': 17.87}, {'connected_gene': 'SPNS1', 'score': 16.18}, {'connected_gene': 'SMG1P2', 'score': 13.41}, {'connected_gene': 'ENSG00000260367', 'score': 12.73}, {'connected_gene': 'CD19', 'score': 12.41}, {'connected_gene': 'RABEP2', 'score': 12.4}, {'connected_gene': 'ENSG00000251417', 'score': 12.39}, {'connected_gene': 'SGF29', 'score': 11.98}, {'connected_gene': 'CDC37P1', 'score': 10.57}, {'connected_gene': 'ENSG00000260796', 'score': 10.32}, {'connected_gene': 'ENSG00000238045', 'score': 9.83}, {'connected_gene': 'PAWRP2', 'score': 6.16}, {'connected_gene': 'ATP2A1', 'score': 0.39}, {'connected_gene': 'GC16M028787', 'score': 0.34}]
chr16 GH16I028585 28585600 28586469 0.59 [{'connected_gene': 'SH2B1', 'score': 24.72}, {'connected_gene': 'ENSG00000261766', 'score': 23.14}, {'connected_gene': 'ATXN2L', 'score': 12.96}, {'connected_gene': 'SGF29', 'score': 12.36}, {'connected_gene': 'NPIPB7', 'score': 11.56}, {'connected_gene': 'NPIPB12', 'score': 11.22}, {'connected_gene': 'ENSG00000246465', 'score': 10.36}, {'connected_gene': 'SBK1', 'score': 10.35}, {'connected_gene': 'ENSG00000260796', 'score': 9.97}, {'connected_gene': 'GC16P028596', 'score': 0.39}, {'connected_gene': 'GC16M028560', 'score': 0.37}]
chr16 GH16I028525 28525496 28529342 0.94 [{'connected_gene': 'IL27', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 60.14}, {'connected_gene': 'TUFM', 'score': 35.42}, {'connected_gene': 'CLN3', 'score': 18.13}, {'connected_gene': 'APOBR', 'score': 12.87}, {'connected_gene': 'NPIPB7', 'score': 12.14}, {'connected_gene': 'SGF29', 'score': 12.08}, {'connected_gene': 'ENSG00000251417', 'score': 6.01}, {'connected_gene': 'PIR42560', 'score': 0.44}]
chr16 GH16I028138 28138496 28144063 1.59 [{'connected_gene': 'XPO6', 'score': 71.43}, {'connected_gene': 'APOBR', 'score': 19.49}, {'connected_gene': 'ATXN2L', 'score': 18.48}, {'connected_gene': 'NFATC2IP', 'score': 16.95}, {'connected_gene': 'SPNS1', 'score': 16.06}, {'connected_gene': 'ENSG00000260853', 'score': 15.34}, {'connected_gene': 'ENSG00000260367', 'score': 12.62}, {'connected_gene': 'ENSG00000200652', 'score': 12.35}, {'connected_gene': 'RNY1P10', 'score': 12.34}, {'connected_gene': 'SGF29', 'score': 11.97}, {'connected_gene': 'NPIPB10P', 'score': 10.29}, {'connected_gene': 'SULT1A1', 'score': 3.14}, {'connected_gene': 'TPRKBP2', 'score': 0.31}, {'connected_gene': 'GC16P028181', 'score': 0.28}]
chr16 GH16I028553 28553280 28554939 2.08 [{'connected_gene': 'SGF29', 'score': 562.69}, {'connected_gene': 'ENSG00000275441', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 58.44}, {'connected_gene': 'ATXN2L', 'score': 18.52}, {'connected_gene': 'NFATC2IP', 'score': 16.98}, {'connected_gene': 'SPNS1', 'score': 16.08}, {'connected_gene': 'ENSG00000260853', 'score': 15.36}, {'connected_gene': 'ENSG00000260367', 'score': 12.64}, {'connected_gene': 'NPIPB12', 'score': 12.03}, {'connected_gene': 'NPIPB10P', 'score': 10.31}, {'connected_gene': 'ENSG00000198106', 'score': 9.66}, {'connected_gene': 'SULT1A1', 'score': 4.93}]
chr16 GH16I029271 29271006 29273490 1.6 [{'connected_gene': 'ENSG00000277999', 'score': 550.77}, {'connected_gene': 'NFATC2IP', 'score': 37.79}, {'connected_gene': 'SPNS1', 'score': 32.16}, {'connected_gene': 'ENSG00000260853', 'score': 27.72}, {'connected_gene': 'INO80E', 'score': 27.18}, {'connected_gene': 'ATXN2L', 'score': 26.62}, {'connected_gene': 'SMG1P2', 'score': 26.52}, {'connected_gene': 'ENSG00000260367', 'score': 21.33}, {'connected_gene': 'SGF29', 'score': 21.11}, {'connected_gene': 'PPP4C', 'score': 20.63}, {'connected_gene': 'ENSG00000260953', 'score': 16.89}, {'connected_gene': 'ENSG00000198106', 'score': 13.29}, {'connected_gene': 'CLN3', 'score': 12.49}, {'connected_gene': 'MVP', 'score': 12.26}, {'connected_gene': 'NPIPB12', 'score': 12.08}, {'connected_gene': 'SLX1A', 'score': 10.58}, {'connected_gene': 'NPIPB10P', 'score': 10.34}, {'connected_gene': 'ENSG00000238045', 'score': 9.84}, {'connected_gene': 'GDPD3', 'score': 9.84}, {'connected_gene': 'EIF3CL', 'score': 5.11}, {'connected_gene': 'ENSG00000284685', 'score': 0.12}]
chr16 GH16I029258 29258969 29270285 1.65 [{'connected_gene': 'ENSG00000260953', 'score': 568.02}, {'connected_gene': 'SPNS1', 'score': 23.83}, {'connected_gene': 'ATXN2L', 'score': 21.94}, {'connected_gene': 'NPIPB9', 'score': 18.7}, {'connected_gene': 'ENSG00000260853', 'score': 18.68}, {'connected_gene': 'ENSG00000260367', 'score': 18.59}, {'connected_gene': 'NPIPB10P', 'score': 16.43}, {'connected_gene': 'SMG1P2', 'score': 15.61}, {'connected_gene': 'NFATC2IP', 'score': 14.66}, {'connected_gene': 'NPIPB8', 'score': 13.99}, {'connected_gene': 'INO80E', 'score': 12.73}, {'connected_gene': 'RPS15AP33', 'score': 12.36}, {'connected_gene': 'ENSG00000198106', 'score': 11.67}, {'connected_gene': 'ENSG00000261766', 'score': 11.2}, {'connected_gene': 'ENSG00000260114', 'score': 11.05}, {'connected_gene': 'SH2B1', 'score': 11.01}, {'connected_gene': 'CLN3', 'score': 10.8}, {'connected_gene': 'SGF29', 'score': 10.71}, {'connected_gene': 'TAOK2', 'score': 10.27}, {'connected_gene': 'CDIPT', 'score': 9.9}, {'connected_gene': 'NPIPB7', 'score': 9.74}, {'connected_gene': 'RRN3P2', 'score': 5.01}, {'connected_gene': 'LOC101928188', 'score': 4.43}, {'connected_gene': 'ENSG00000277999', 'score': 0.44}, {'connected_gene': 'ENSG00000284685', 'score': 0.13}]
chr16 GH16I028531 28531802 28535509 1.31 [{'connected_gene': 'PIR42560', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 59.53}, {'connected_gene': 'TUFM', 'score': 27.5}, {'connected_gene': 'APOBR', 'score': 13.79}, {'connected_gene': 'SGF29', 'score': 12.1}, {'connected_gene': 'NPIPB7', 'score': 12.1}, {'connected_gene': 'CLN3', 'score': 11.85}, {'connected_gene': 'IL27', 'score': 10.81}, {'connected_gene': 'ENSG00000251417', 'score': 4.34}, {'connected_gene': 'SULT1A1', 'score': 3.37}, {'connected_gene': 'SPNS1', 'score': 2.75}, {'connected_gene': 'EIF3CL', 'score': 2.54}, {'connected_gene': 'EIF3C', 'score': 2.51}, {'connected_gene': 'NUPR1', 'score': 0.44}]
chr16 GH16I029273 29273600 29274200 1.63 [{'connected_gene': 'ENSG00000277999', 'score': 550.77}, {'connected_gene': 'ENSG00000260853', 'score': 64.85}, {'connected_gene': 'NPIPB12', 'score': 59.33}, {'connected_gene': 'ATXN2L', 'score': 54.92}, {'connected_gene': 'INO80E', 'score': 54.75}, {'connected_gene': 'SPNS1', 'score': 53.2}, {'connected_gene': 'NFATC2IP', 'score': 50.03}, {'connected_gene': 'NPIPB13', 'score': 44.46}, {'connected_gene': 'ENSG00000260367', 'score': 35.32}, {'connected_gene': 'SMG1P2', 'score': 34.98}, {'connected_gene': 'ENSG00000261766', 'score': 33.21}, {'connected_gene': 'ENSG00000260796', 'score': 29.34}, {'connected_gene': 'ENSG00000198106', 'score': 27.76}, {'connected_gene': 'CDIPT', 'score': 23.26}, {'connected_gene': 'SGF29', 'score': 21.11}, {'connected_gene': 'PPP4C', 'score': 20.63}, {'connected_gene': 'SLX1A', 'score': 19.31}, {'connected_gene': 'ENSG00000260953', 'score': 13.56}, {'connected_gene': 'CLN3', 'score': 12.49}, {'connected_gene': 'MVP', 'score': 12.26}, {'connected_gene': 'RPS15AP33', 'score': 12.06}, {'connected_gene': 'NPIPB10P', 'score': 10.33}, {'connected_gene': 'NPIPB11', 'score': 9.87}, {'connected_gene': 'ENSG00000238045', 'score': 9.84}, {'connected_gene': 'GDPD3', 'score': 9.84}, {'connected_gene': 'SH2B1', 'score': 9.81}, {'connected_gene': 'SNX29P2', 'score': 4.71}, {'connected_gene': 'ENSG00000284685', 'score': 0.12}]
chr16 GH16I028191 28191019 28197882 1.6 [{'connected_gene': 'GC16M028181', 'score': 550.77}, {'connected_gene': 'SBK1', 'score': 11.69}, {'connected_gene': 'XPO6', 'score': 10.54}, {'connected_gene': 'ENSG00000246465', 'score': 10.34}, {'connected_gene': 'SGF29', 'score': 2.43}, {'connected_gene': 'APOBR', 'score': 1.69}, {'connected_gene': 'RNY1P10', 'score': 0.39}]
chr16 GH16I028561 28561601 28561800 0.31 [{'connected_gene': 'PIR35554', 'score': 0.77}, {'connected_gene': 'GC16M028560', 'score': 0.44}, {'connected_gene': 'SGF29', 'score': 0.44}]
chr16 GH16I028549 28549600 28549800 0.69 [{'connected_gene': 'ENSG00000271495', 'score': 550.77}, {'connected_gene': 'SGF29', 'score': 0.77}]

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