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
ENST00000369239 [[99845926, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99864224, 99864304], [99873090, 99873184]] [[99848415, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
ENST00000438806 [[99847839, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99873090, 99873207]] [[99848415, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
ENST00000481229 [[99847850, 99848187], [99850415, 99850473]] None
ENST00000460600 [[99849335, 99849506], [99850415, 99852422]] None
ENST00000478777 [[99849336, 99849506], [99850415, 99850586], [99851704, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99864224, 99864304], [99873090, 99873184]] [[99852338, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
ENST00000476159 [[99849337, 99849506], [99850415, 99850586], [99852478, 99852578], [99853906, 99854003]] None
ENST00000463021 [[99856028, 99856147], [99857048, 99858868]] None
ENST00000492294 [[99858816, 99858840], [99860426, 99860615], [99862447, 99862566], [99863444, 99863623], [99864224, 99864304], [99873090, 99873151]] None
ENST00000498075 [[99859611, 99860194], [99860426, 99860615], [99862447, 99862566], [99864224, 99864304], [99873090, 99873146]] None
ENST00000466057 [[99859666, 99860615], [99862447, 99864304], [99873090, 99873134]] None
NM_001322406 [[99845926, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99863511, 99863623], [99864224, 99864304], [99873090, 99873221]] [[99848415, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_032870 [[99845926, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99864224, 99864304], [99873090, 99873221]] [[99848415, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322410 [[99845926, 99848187], [99848419, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99864224, 99864304], [99873090, 99873221]] [[99848156, 99848187], [99848419, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322416 [[99845926, 99848187], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99864224, 99864304], [99873090, 99873221]] [[99848149, 99848187], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322414 [[99845926, 99849506], [99850415, 99850586], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99864224, 99864304], [99873090, 99873221]] [[99848415, 99849506], [99850415, 99850586], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322405 [[99845926, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862562], [99864224, 99864304], [99873090, 99873221]] [[99848415, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322412 [[99845926, 99848187], [99848419, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862562], [99864224, 99864304], [99873090, 99873221]] [[99848156, 99848187], [99848419, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NR_136326 [[99845926, 99849506], [99850415, 99850586], [99851704, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99873090, 99873221]] None
NM_015491 [[99845926, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99873090, 99873221]] [[99848415, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322413 [[99845926, 99848187], [99848419, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99873090, 99873221]] [[99848156, 99848187], [99848419, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322415 [[99845926, 99849506], [99850415, 99850586], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862566], [99873090, 99873221]] [[99848415, 99849506], [99850415, 99850586], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322408 [[99845926, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862562], [99873090, 99873221]] [[99848415, 99849506], [99850415, 99850586], [99851704, 99851758], [99852478, 99852578], [99853906, 99854044], [99855956, 99856147], [99857048, 99857220], [99858616, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322419 [[99857221, 99860194], [99860426, 99860615], [99862447, 99862566], [99864224, 99864304], [99873090, 99873221]] [[99860189, 99860194], [99860426, 99860615], [99862447, 99862535]]
NM_001322417 [[99857221, 99858840], [99860426, 99860615], [99862447, 99862566], [99864224, 99864304], [99873090, 99873221]] [[99858592, 99858840], [99860426, 99860615], [99862447, 99862535]]
NM_001322418 [[99857221, 99860194], [99860426, 99860615], [99862447, 99862562], [99873090, 99873221]] [[99860189, 99860194], [99860426, 99860615], [99862447, 99862535]]
Promoter
Chrom Start End Description
chr6 99848922 99848992 CAGE_peak_2_at_PNISR_5end
chr6 99848993 99849028 CAGE_peak_9_at_PNISR_5end
chr6 99849060 99849082 CAGE_peak_8_at_PNISR_5end
chr6 99849107 99849160 CAGE_peak_3_at_PNISR_5end
chr6 99849197 99849216 CAGE_peak_7_at_PNISR_5end
chr6 99849222 99849244 CAGE_peak_17_at_PNISR_5end
chr6 99849280 99849318 CAGE_peak_5_at_PNISR_5end
chr6 99849347 99849412 CAGE_peak_4_at_PNISR_5end
chr6 99850561 99850620 CAGE_peak_6_at_PNISR_5end
chr6 99850628 99850641 CAGE_peak_33_at_PNISR_5end
chr6 99852203 99852227 CAGE_peak_23_at_PNISR_5end
chr6 99855982 99855992 CAGE_peak_12_at_PNISR_5end
chr6 99858802 99858838 CAGE_peak_11_at_PNISR_5end
chr6 99873145 99873196 CAGE_peak_1_at_PNISR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I099554 99554483 99554854 0.28 [{'connected_gene': 'USP45', 'score': 8.61}, {'connected_gene': 'PNISR', 'score': 1.5}, {'connected_gene': 'CCNC', 'score': 0.39}, {'connected_gene': 'ENSG00000272017', 'score': 0.39}, {'connected_gene': 'ENSG00000274603', 'score': 0.31}, {'connected_gene': 'TSTD3', 'score': 0.29}]
chr6 GH06I099513 99513994 99516765 2.04 [{'connected_gene': 'USP45', 'score': 550.44}, {'connected_gene': 'RPS3P5', 'score': 44.55}, {'connected_gene': 'LOC101927365', 'score': 19.76}, {'connected_gene': 'CCNC', 'score': 12.03}, {'connected_gene': 'PNISR', 'score': 11.04}, {'connected_gene': 'ENSG00000272017', 'score': 4.94}, {'connected_gene': 'TSTD3', 'score': 0.44}, {'connected_gene': 'PIR43976', 'score': 0.29}]
chr6 GH06I098832 98832441 98832999 0.98 [{'connected_gene': 'POU3F2', 'score': 572.96}, {'connected_gene': 'ENSG00000283010', 'score': 550.77}, {'connected_gene': 'PNISR', 'score': 13.44}, {'connected_gene': 'LOC101927365', 'score': 12.22}, {'connected_gene': 'FBXL4', 'score': 4.44}]
chr6 GH06I099417 99417094 99417767 0.57 [{'connected_gene': 'COQ3', 'score': 12.2}, {'connected_gene': 'LOC101927365', 'score': 6.59}, {'connected_gene': 'PNISR', 'score': 0.44}, {'connected_gene': 'GC06M099409', 'score': 0.44}]
chr6 GH06I099393 99393174 99394774 2.03 [{'connected_gene': 'COQ3', 'score': 550.77}, {'connected_gene': 'LOC101927365', 'score': 30.65}, {'connected_gene': 'RPS3P5', 'score': 16.31}, {'connected_gene': 'FBXL4', 'score': 13.94}, {'connected_gene': 'TSTD3', 'score': 10.87}, {'connected_gene': 'PNISR', 'score': 10.55}, {'connected_gene': 'FAXC', 'score': 0.26}]
chr6 GH06I098945 98945730 98948600 1.95 [{'connected_gene': 'FBXL4', 'score': 555.55}, {'connected_gene': 'PNISR', 'score': 13.45}, {'connected_gene': 'LOC101927365', 'score': 12.24}, {'connected_gene': 'GC06M098840', 'score': 0.15}]
chr6 GH06I098845 98845665 98845954 1.35 [{'connected_gene': 'PNISR', 'score': 11.99}, {'connected_gene': 'USP45', 'score': 11.08}, {'connected_gene': 'POU3F2', 'score': 9.71}, {'connected_gene': 'GC06M098840', 'score': 0.77}, {'connected_gene': 'FBXL4', 'score': 0.15}]
chr6 GH06I099420 99420477 99420536 0.5 [{'connected_gene': 'PNISR', 'score': 550.77}, {'connected_gene': 'COQ3', 'score': 11.47}, {'connected_gene': 'LOC101927365', 'score': 0.77}, {'connected_gene': 'GC06M099409', 'score': 0.39}]
chr6 GH06I100295 100295761 100298482 1.1 [{'connected_gene': 'PNISR', 'score': 16.21}, {'connected_gene': 'LOC102724406', 'score': 10.45}, {'connected_gene': 'GC06M100387', 'score': 0.17}, {'connected_gene': 'LOC100129854', 'score': 0.13}]
chr6 GH06I099612 99612422 99615029 0.84 [{'connected_gene': 'PNISR', 'score': 26.77}, {'connected_gene': 'LOC101927365', 'score': 12.28}, {'connected_gene': 'PRDM13', 'score': 0.44}, {'connected_gene': 'GC06P099636', 'score': 0.34}]
chr6 GH06I100087 100087731 100088880 0.73 [{'connected_gene': 'PNISR', 'score': 10.55}, {'connected_gene': 'LOC100420742', 'score': 0.44}, {'connected_gene': 'NPM1P38', 'score': 0.28}]
chr6 GH06I099547 99547483 99547965 0.45 [{'connected_gene': 'LOC101927365', 'score': 10.0}, {'connected_gene': 'USP45', 'score': 8.66}, {'connected_gene': 'PNISR', 'score': 1.87}, {'connected_gene': 'ENSG00000274603', 'score': 0.34}, {'connected_gene': 'CCNC', 'score': 0.34}, {'connected_gene': 'ENSG00000272017', 'score': 0.34}, {'connected_gene': 'TSTD3', 'score': 0.31}]
chr6 GH06I099335 99335386 99335752 0.38 [{'connected_gene': 'LOC101927365', 'score': 11.09}, {'connected_gene': 'PNISR', 'score': 11.09}, {'connected_gene': 'FAXC', 'score': 0.39}, {'connected_gene': 'GC06P099185', 'score': 0.11}]
chr6 GH06I099334 99334645 99334794 0.57 [{'connected_gene': 'LOC101927365', 'score': 11.09}, {'connected_gene': 'PNISR', 'score': 11.09}, {'connected_gene': 'FAXC', 'score': 0.37}, {'connected_gene': 'GC06P099185', 'score': 0.11}]
chr6 GH06I099423 99423381 99427444 2.3 [{'connected_gene': 'LOC101927365', 'score': 581.4}, {'connected_gene': 'PNISR', 'score': 550.77}, {'connected_gene': 'RPS3P5', 'score': 22.07}, {'connected_gene': 'PIR60353', 'score': 0.77}]
chr6 GH06I099514 99513270 99513440 0.43 [{'connected_gene': 'RPS3P5', 'score': 45.28}, {'connected_gene': 'CCNC', 'score': 11.46}, {'connected_gene': 'LOC101927365', 'score': 11.05}, {'connected_gene': 'PNISR', 'score': 11.05}, {'connected_gene': 'TSTD3', 'score': 0.44}, {'connected_gene': 'USP45', 'score': 0.44}, {'connected_gene': 'PIR43976', 'score': 0.29}]
chr6 GH06I099512 99512801 99513200 0.54 [{'connected_gene': 'RPS3P5', 'score': 45.28}, {'connected_gene': 'CCNC', 'score': 11.46}, {'connected_gene': 'LOC101927365', 'score': 11.05}, {'connected_gene': 'PNISR', 'score': 11.05}, {'connected_gene': 'TSTD3', 'score': 0.44}, {'connected_gene': 'USP45', 'score': 0.44}, {'connected_gene': 'PIR43976', 'score': 0.29}]
chr6 GH06I099745 99745311 99746574 0.66 [{'connected_gene': 'RPS3P5', 'score': 15.35}, {'connected_gene': 'LOC101927365', 'score': 11.99}, {'connected_gene': 'PNISR', 'score': 11.99}, {'connected_gene': 'ENSG00000199303', 'score': 0.15}, {'connected_gene': 'GC06M099643', 'score': 0.15}, {'connected_gene': 'MCHR2-AS1', 'score': 0.07}]
chr6 GH06I099484 99484071 99486415 0.57 [{'connected_gene': 'RPS3P5', 'score': 30.24}, {'connected_gene': 'LOC101927365', 'score': 24.77}, {'connected_gene': 'TSTD3', 'score': 12.0}, {'connected_gene': 'USP45', 'score': 12.0}, {'connected_gene': 'PNISR', 'score': 11.7}, {'connected_gene': 'PIR43976', 'score': 0.77}]
chr6 GH06I099566 99566760 99569400 2.13 [{'connected_gene': 'ENSG00000272017', 'score': 572.1}, {'connected_gene': 'CCNC', 'score': 550.77}, {'connected_gene': 'PNISR', 'score': 61.34}, {'connected_gene': 'LOC101927365', 'score': 50.54}, {'connected_gene': 'USP45', 'score': 42.17}, {'connected_gene': 'RPS3P5', 'score': 38.98}, {'connected_gene': 'FBXL4', 'score': 29.12}, {'connected_gene': 'TSTD3', 'score': 12.71}, {'connected_gene': 'ENSG00000274603', 'score': 0.26}]
chr6 GH06I098831 98831701 98831900 0.72 [{'connected_gene': 'ENSG00000283010', 'score': 550.77}, {'connected_gene': 'POU3F2', 'score': 20.44}, {'connected_gene': 'PNISR', 'score': 13.44}, {'connected_gene': 'LOC101927365', 'score': 12.22}, {'connected_gene': 'ENSG00000187472', 'score': 0.23}]

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