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
ENST00000300107 [[65440556, 65443251], [65444767, 65444874], [65445884, 65445977], [65447119, 65447419], [65448029, 65448194], [65449181, 65449270], [65450083, 65450248], [65450912, 65451089], [65454941, 65454983], [65456366, 65456526], [65458968, 65459123], [65471271, 65471389], [65472381, 65472542], [65477412, 65477680]] [[65443160, 65443251], [65444767, 65444874], [65445884, 65445977], [65447119, 65447419], [65448029, 65448194], [65449181, 65449270], [65450083, 65450248], [65450912, 65451089], [65454941, 65454983], [65456366, 65456526], [65458968, 65459123], [65471271, 65471389], [65472381, 65472542], [65477412, 65477491]]
ENST00000559152 [[65442851, 65443251], [65444767, 65444874], [65445884, 65445977], [65447119, 65447419], [65448029, 65448194], [65449115, 65449270], [65450083, 65450248], [65451024, 65451089], [65454941, 65454983], [65456366, 65456526], [65458968, 65459123], [65471271, 65471389], [65472381, 65472542], [65477412, 65477554]] [[65450221, 65450248], [65451024, 65451089], [65454941, 65454983], [65456366, 65456526], [65458968, 65459123], [65471271, 65471389], [65472381, 65472542], [65477412, 65477491]]
ENST00000560166 [[65447016, 65447419], [65448029, 65448189]] None
ENST00000558958 [[65449023, 65449270], [65450083, 65450248], [65450912, 65451089], [65454941, 65454983], [65456366, 65456526], [65458968, 65459123], [65471271, 65471389], [65472381, 65472542], [65477412, 65477680]] None
ENST00000558103 [[65450528, 65451089], [65454941, 65454985]] None
ENST00000559218 [[65458988, 65459123], [65471271, 65471389], [65472381, 65472542], [65476703, 65476822]] [[65458988, 65459123], [65471271, 65471389], [65472381, 65472519]]
NM_006660 [[65440556, 65443251], [65444767, 65444874], [65445884, 65445977], [65447119, 65447419], [65448029, 65448194], [65449181, 65449270], [65450083, 65450248], [65450912, 65451089], [65454941, 65454983], [65456366, 65456526], [65458968, 65459123], [65471271, 65471389], [65472381, 65472542], [65477412, 65477758]] [[65443160, 65443251], [65444767, 65444874], [65445884, 65445977], [65447119, 65447419], [65448029, 65448194], [65449181, 65449270], [65450083, 65450248], [65450912, 65451089], [65454941, 65454983], [65456366, 65456526], [65458968, 65459123], [65471271, 65471389], [65472381, 65472542], [65477412, 65477491]]
NR_133680 [[65440556, 65443251], [65444767, 65444874], [65445884, 65445977], [65447119, 65447419], [65448029, 65448194], [65449115, 65449270], [65450083, 65450248], [65451024, 65451089], [65454941, 65454983], [65456366, 65456526], [65458968, 65459123], [65471271, 65471389], [65472381, 65472542], [65477412, 65477758]] None
Promoter
Chrom Start End Description
chr15 65477464 65477479 CAGE_peak_8_at_CLPX_5end
chr15 65477637 65477701 CAGE_peak_1_at_CLPX_5end
chr15 65477785 65477794 CAGE_peak_2_at_CLPX_5end
chr15 65477916 65477928 CAGE_peak_6_at_CLPX_5end
chr15 65477972 65477981 CAGE_peak_12_at_CLPX_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I065248 65248041 65250161 0.64 [{'connected_gene': 'CILP', 'score': 12.13}, {'connected_gene': 'CLPX', 'score': 10.68}, {'connected_gene': 'PARP16', 'score': 6.69}, {'connected_gene': 'IGDCC3', 'score': 5.14}, {'connected_gene': 'RNU6-686P', 'score': 0.37}, {'connected_gene': 'SNORA24B', 'score': 0.28}]
chr15 GH15I065244 65244704 65246996 0.91 [{'connected_gene': 'CILP', 'score': 12.15}, {'connected_gene': 'CLPX', 'score': 10.68}, {'connected_gene': 'SPG21', 'score': 3.9}, {'connected_gene': 'RNU6-686P', 'score': 0.37}, {'connected_gene': 'SNORA24B', 'score': 0.28}, {'connected_gene': 'PARP16', 'score': 0.23}]
chr15 GH15I065257 65257010 65260489 0.59 [{'connected_gene': 'PARP16', 'score': 24.62}, {'connected_gene': 'IGDCC3', 'score': 14.93}, {'connected_gene': 'RNU6-686P', 'score': 12.76}, {'connected_gene': 'CILP', 'score': 12.09}, {'connected_gene': 'SNORA24B', 'score': 11.8}, {'connected_gene': 'RNU5A-1', 'score': 11.77}, {'connected_gene': 'CLPX', 'score': 11.23}, {'connected_gene': 'RNU5B-1', 'score': 10.97}, {'connected_gene': 'MIR1272', 'score': 9.23}]
chr15 GH15I065274 65274983 65276292 1.07 [{'connected_gene': 'PARP16', 'score': 16.47}, {'connected_gene': 'RNU5B-1', 'score': 12.94}, {'connected_gene': 'RNU6-686P', 'score': 12.0}, {'connected_gene': 'CILP', 'score': 11.58}, {'connected_gene': 'CLPX', 'score': 11.33}, {'connected_gene': 'IGDCC3', 'score': 10.07}, {'connected_gene': 'SNORA24B', 'score': 0.44}]
chr15 GH15I065254 65254060 65255332 0.46 [{'connected_gene': 'PARP16', 'score': 18.49}, {'connected_gene': 'RNU6-686P', 'score': 12.21}, {'connected_gene': 'CILP', 'score': 12.1}, {'connected_gene': 'SNORA24B', 'score': 11.78}, {'connected_gene': 'RNU5A-1', 'score': 11.75}, {'connected_gene': 'CLPX', 'score': 11.24}, {'connected_gene': 'RNU5B-1', 'score': 10.88}, {'connected_gene': 'IGDCC3', 'score': 9.7}, {'connected_gene': 'MIR1272', 'score': 9.22}]
chr15 GH15I065110 65110283 65111096 1.03 [{'connected_gene': 'MTFMT', 'score': 11.11}, {'connected_gene': 'CLPX', 'score': 10.69}, {'connected_gene': 'RBPMS2', 'score': 9.42}, {'connected_gene': 'ANKDD1A', 'score': 2.74}, {'connected_gene': 'PDCD7', 'score': 1.51}, {'connected_gene': 'UBAP1L', 'score': 0.77}, {'connected_gene': 'ENSG00000259258', 'score': 0.44}, {'connected_gene': 'GC15M065089', 'score': 0.37}]
chr15 GH15I065177 65177603 65178574 0.43 [{'connected_gene': 'CLPX', 'score': 0.44}, {'connected_gene': 'GC15P069469', 'score': 0.39}, {'connected_gene': 'GC15P069467', 'score': 0.39}, {'connected_gene': 'PIR39480', 'score': 0.39}, {'connected_gene': 'GC15P069470', 'score': 0.39}, {'connected_gene': 'GC15P069468', 'score': 0.39}]
chr15 GH15I065309 65309595 65310523 0.43 [{'connected_gene': 'GC15M065309', 'score': 550.77}, {'connected_gene': 'IGDCC3', 'score': 17.13}, {'connected_gene': 'SNORA24B', 'score': 11.61}, {'connected_gene': 'CLPX', 'score': 11.29}, {'connected_gene': 'CILP', 'score': 10.8}, {'connected_gene': 'PARP16', 'score': 7.7}, {'connected_gene': 'GC15M065305', 'score': 0.77}]
chr15 GH15I065305 65305883 65305992 0.31 [{'connected_gene': 'GC15P068442', 'score': 550.77}, {'connected_gene': 'RNU5B-1', 'score': 550.77}, {'connected_gene': 'GC15M065305', 'score': 550.77}, {'connected_gene': 'IGDCC3', 'score': 11.64}, {'connected_gene': 'CLPX', 'score': 11.29}, {'connected_gene': 'CILP', 'score': 10.81}, {'connected_gene': 'GC15M065309', 'score': 0.77}]
chr15 GH15I065303 65303361 65305581 2.16 [{'connected_gene': 'GC15P068442', 'score': 550.77}, {'connected_gene': 'RNU5B-1', 'score': 550.77}, {'connected_gene': 'GC15M065305', 'score': 550.77}, {'connected_gene': 'PARP16', 'score': 95.98}, {'connected_gene': 'ZNF609', 'score': 79.82}, {'connected_gene': 'TRIP4', 'score': 60.71}, {'connected_gene': 'INTS14', 'score': 59.69}, {'connected_gene': 'PDCD7', 'score': 49.5}, {'connected_gene': 'SLC24A1', 'score': 33.36}, {'connected_gene': 'ENSG00000264937', 'score': 30.88}, {'connected_gene': 'CILP', 'score': 28.67}, {'connected_gene': 'ENSG00000259635', 'score': 22.27}, {'connected_gene': 'IGDCC3', 'score': 16.73}, {'connected_gene': 'CSNK1G1', 'score': 14.99}, {'connected_gene': 'DENND4A', 'score': 11.41}, {'connected_gene': 'CLPX', 'score': 11.29}, {'connected_gene': 'SPG21', 'score': 10.21}, {'connected_gene': 'ENSG00000265967', 'score': 9.79}, {'connected_gene': 'ENSG00000259346', 'score': 0.77}]
chr15 GH15I065183 65183239 65186285 2.08 [{'connected_gene': 'GC15P069466', 'score': 550.77}, {'connected_gene': 'GC15P069460', 'score': 550.77}, {'connected_gene': 'GC15P069465', 'score': 550.77}, {'connected_gene': 'PIR37257', 'score': 550.77}, {'connected_gene': 'GC15P069464', 'score': 550.77}, {'connected_gene': 'GC15P069459', 'score': 550.77}, {'connected_gene': 'GC15P069462', 'score': 550.77}, {'connected_gene': 'GC15P069458', 'score': 550.77}, {'connected_gene': 'GC15P069461', 'score': 550.77}, {'connected_gene': 'CLPX', 'score': 550.77}, {'connected_gene': 'PARP16', 'score': 36.14}, {'connected_gene': 'INTS14', 'score': 24.08}, {'connected_gene': 'SPG21', 'score': 14.18}, {'connected_gene': 'TRIP4', 'score': 14.07}, {'connected_gene': 'ZNF609', 'score': 12.91}, {'connected_gene': 'SNORA24B', 'score': 12.34}, {'connected_gene': 'RNU5A-1', 'score': 12.33}, {'connected_gene': 'SLC24A1', 'score': 12.32}, {'connected_gene': 'CILP', 'score': 12.14}, {'connected_gene': 'RNU5B-1', 'score': 11.75}, {'connected_gene': 'PDCD7', 'score': 11.58}, {'connected_gene': 'UBAP1L', 'score': 8.02}, {'connected_gene': 'PCLAF', 'score': 5.05}, {'connected_gene': 'GC15P069470', 'score': 0.37}, {'connected_gene': 'GC15P069467', 'score': 0.37}, {'connected_gene': 'PIR39480', 'score': 0.37}, {'connected_gene': 'GC15P069468', 'score': 0.37}, {'connected_gene': 'GC15P069469', 'score': 0.37}]