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
ENST00000483182 [[38474929, 38475020], [38478385, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484781]] None
ENST00000486563 [[38478405, 38478537], [38482030, 38482648]] None
ENST00000373014 [[38478413, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38490496]] [[38478474, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38489300]]
ENST00000537711 [[38478450, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38488370, 38488481], [38489216, 38489520]] [[38478474, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38488370, 38488381]]
ENST00000488453 [[38482254, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38489473]] None
NM_016037 [[38478383, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38490497]] [[38478474, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38489300]]
Promoter
Chrom Start End Description
chr1 38478378 38478426 CAGE_peak_1_at_UTP11L_5end
chr1 38478432 38478466 CAGE_peak_2_at_UTP11L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I038989 38989281 38993261 2.25 [{'connected_gene': 'AKIRIN1', 'score': 559.65}, {'connected_gene': 'NDUFS5', 'score': 32.52}, {'connected_gene': 'RHBDL2', 'score': 11.05}, {'connected_gene': 'GJA9', 'score': 10.42}, {'connected_gene': 'MYCBP', 'score': 10.4}, {'connected_gene': 'UTP11', 'score': 10.38}, {'connected_gene': 'PIR42637', 'score': 0.39}, {'connected_gene': 'GC01M038902', 'score': 0.28}]
chr1 GH01I038019 38019991 38021033 0.4 [{'connected_gene': 'POU3F1', 'score': 11.75}, {'connected_gene': 'ENSG00000224592', 'score': 11.75}, {'connected_gene': 'GC01P038029', 'score': 0.44}, {'connected_gene': 'UTP11', 'score': 0.39}]
chr1 GH01I038021 38021778 38023013 0.2 [{'connected_gene': 'POU3F1', 'score': 11.78}, {'connected_gene': 'ENSG00000224592', 'score': 11.78}, {'connected_gene': 'GC01P038029', 'score': 0.44}, {'connected_gene': 'UTP11', 'score': 0.39}]
chr1 GH01I038053 38053036 38053378 0.91 [{'connected_gene': 'UTP11', 'score': 10.75}, {'connected_gene': 'FHL3', 'score': 10.74}, {'connected_gene': 'LOC105378653', 'score': 0.44}, {'connected_gene': 'ENSG00000224592', 'score': 0.44}, {'connected_gene': 'ENSG00000223589', 'score': 0.31}]
chr1 GH01I038008 38008280 38017539 2.53 [{'connected_gene': 'UTP11', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 48.63}, {'connected_gene': 'INPP5B', 'score': 47.92}, {'connected_gene': 'SNIP1', 'score': 37.34}, {'connected_gene': 'C1orf109', 'score': 35.84}, {'connected_gene': 'RNU6-510P', 'score': 12.1}, {'connected_gene': 'FTH1P1', 'score': 10.74}, {'connected_gene': 'RSPO1', 'score': 10.27}, {'connected_gene': 'MTF1', 'score': 10.23}, {'connected_gene': 'ENSG00000230955', 'score': 10.23}, {'connected_gene': 'YRDC', 'score': 10.18}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'GNL2', 'score': 9.78}, {'connected_gene': 'CDCA8', 'score': 8.69}, {'connected_gene': 'GC01P038029', 'score': 0.37}]
chr1 GH01I037858 37858152 37861557 2.27 [{'connected_gene': 'MTF1', 'score': 550.77}, {'connected_gene': 'ENSG00000230955', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 30.56}, {'connected_gene': 'SNIP1', 'score': 24.23}, {'connected_gene': 'GNL2', 'score': 17.35}, {'connected_gene': 'INPP5B', 'score': 11.87}, {'connected_gene': 'UTP11', 'score': 10.42}, {'connected_gene': 'C1orf109', 'score': 10.03}, {'connected_gene': 'FHL3', 'score': 4.57}]
chr1 GH01I037907 37907029 37908666 0.43 [{'connected_gene': 'INPP5B', 'score': 38.24}, {'connected_gene': 'FHL3', 'score': 11.12}, {'connected_gene': 'UTP11', 'score': 11.11}, {'connected_gene': 'MTF1', 'score': 10.95}, {'connected_gene': 'ENSG00000230955', 'score': 10.95}, {'connected_gene': 'RNU6-584P', 'score': 0.34}, {'connected_gene': 'LOC105378651', 'score': 0.34}]
chr1 GH01I037900 37900572 37902546 0.9 [{'connected_gene': 'INPP5B', 'score': 39.27}, {'connected_gene': 'FHL3', 'score': 16.85}, {'connected_gene': 'MTF1', 'score': 10.97}, {'connected_gene': 'ENSG00000230955', 'score': 10.97}, {'connected_gene': 'UTP11', 'score': 10.57}, {'connected_gene': 'RNU6-584P', 'score': 0.37}, {'connected_gene': 'LOC105378651', 'score': 0.29}]
chr1 GH01I037890 37890489 37890678 0.64 [{'connected_gene': 'INPP5B', 'score': 12.05}, {'connected_gene': 'SF3A3', 'score': 11.64}, {'connected_gene': 'RNU6-510P', 'score': 11.64}, {'connected_gene': 'UTP11', 'score': 10.43}, {'connected_gene': 'FHL3', 'score': 10.43}, {'connected_gene': 'RNU6-584P', 'score': 0.44}, {'connected_gene': 'LOC105378651', 'score': 0.26}]
chr1 GH01I037994 37994512 38008164 2.7 [{'connected_gene': 'FHL3', 'score': 599.57}, {'connected_gene': 'SF3A3', 'score': 46.56}, {'connected_gene': 'SNIP1', 'score': 17.01}, {'connected_gene': 'MYCBP', 'score': 14.26}, {'connected_gene': 'C1orf109', 'score': 11.45}, {'connected_gene': 'FTH1P1', 'score': 11.15}, {'connected_gene': 'GNL2', 'score': 9.68}, {'connected_gene': 'MEAF6', 'score': 5.26}, {'connected_gene': 'UTP11', 'score': 1.92}, {'connected_gene': 'MTF1', 'score': 1.44}, {'connected_gene': 'RNU6-510P', 'score': 0.44}]
chr1 GH01I037921 37921190 37923924 1.16 [{'connected_gene': 'SF3A3', 'score': 30.46}, {'connected_gene': 'INPP5B', 'score': 24.73}, {'connected_gene': 'FTH1P1', 'score': 11.58}, {'connected_gene': 'MYCBP', 'score': 11.15}, {'connected_gene': 'RNU6-510P', 'score': 11.13}, {'connected_gene': 'MTF1', 'score': 11.03}, {'connected_gene': 'ENSG00000230955', 'score': 11.03}, {'connected_gene': 'GNL2', 'score': 10.88}, {'connected_gene': 'YRDC', 'score': 10.51}, {'connected_gene': 'C1orf109', 'score': 9.86}, {'connected_gene': 'UTP11', 'score': 5.97}, {'connected_gene': 'LOC105378651', 'score': 0.44}, {'connected_gene': 'RNU6-584P', 'score': 0.28}]
chr1 GH01I038020 38019049 38019198 0.88 [{'connected_gene': 'SF3A3', 'score': 11.78}, {'connected_gene': 'RNU6-510P', 'score': 11.78}, {'connected_gene': 'INPP5B', 'score': 10.66}, {'connected_gene': 'YRDC', 'score': 10.17}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'UTP11', 'score': 0.44}, {'connected_gene': 'GC01P038029', 'score': 0.39}]
chr1 GH01I038018 38018505 38019002 0.67 [{'connected_gene': 'SF3A3', 'score': 11.78}, {'connected_gene': 'RNU6-510P', 'score': 11.78}, {'connected_gene': 'INPP5B', 'score': 10.66}, {'connected_gene': 'YRDC', 'score': 10.17}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'UTP11', 'score': 0.44}, {'connected_gene': 'GC01P038029', 'score': 0.39}]
chr1 GH01I037930 37930135 37933295 1.97 [{'connected_gene': 'LOC105378651', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 550.37}, {'connected_gene': 'SF3A3', 'score': 54.31}, {'connected_gene': 'SNIP1', 'score': 24.22}, {'connected_gene': 'C1orf109', 'score': 19.34}, {'connected_gene': 'GNL2', 'score': 17.33}, {'connected_gene': 'FHL3', 'score': 11.47}, {'connected_gene': 'UTP11', 'score': 10.49}, {'connected_gene': 'RNU6-584P', 'score': 0.25}]
chr1 GH01I038038 38038490 38039524 0.31 [{'connected_gene': 'GC01P038039', 'score': 550.77}, {'connected_gene': 'UTP11', 'score': 10.61}, {'connected_gene': 'FHL3', 'score': 10.59}, {'connected_gene': 'GC01M038029', 'score': 0.44}]
chr1 GH01I038026 38026442 38031678 1.79 [{'connected_gene': 'GC01M038029', 'score': 550.77}, {'connected_gene': 'GC01P038029', 'score': 550.77}, {'connected_gene': 'UTP11', 'score': 0.37}]
chr1 GH01I038023 38023121 38023780 0.2 [{'connected_gene': 'GC01P038029', 'score': 0.44}, {'connected_gene': 'UTP11', 'score': 0.39}]
chr1 GH01I037811 37810201 37810400 0.46 [{'connected_gene': 'PIR60496', 'score': 550.77}, {'connected_gene': 'GC01M037825', 'score': 550.77}, {'connected_gene': 'PIR56555', 'score': 550.77}, {'connected_gene': 'GC01M037828', 'score': 550.77}, {'connected_gene': 'MTF1', 'score': 11.56}, {'connected_gene': 'ENSG00000230955', 'score': 11.55}, {'connected_gene': 'EPHA10', 'score': 10.52}, {'connected_gene': 'UTP11', 'score': 9.79}, {'connected_gene': 'FHL3', 'score': 9.79}, {'connected_gene': 'YRDC', 'score': 0.77}, {'connected_gene': 'GC01M037824', 'score': 0.77}]
chr1 GH01I037810 37810801 37811401 1.01 [{'connected_gene': 'PIR60496', 'score': 550.77}, {'connected_gene': 'PIR49672', 'score': 550.77}, {'connected_gene': 'GC01M037825', 'score': 550.77}, {'connected_gene': 'PIR56555', 'score': 550.77}, {'connected_gene': 'GC01M037828', 'score': 550.77}, {'connected_gene': 'PIR40914', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 25.19}, {'connected_gene': 'MTF1', 'score': 11.56}, {'connected_gene': 'ENSG00000230955', 'score': 11.56}, {'connected_gene': 'EPHA10', 'score': 10.52}, {'connected_gene': 'FHL3', 'score': 9.79}, {'connected_gene': 'UTP11', 'score': 9.79}, {'connected_gene': 'YRDC', 'score': 0.77}, {'connected_gene': 'GC01M037824', 'score': 0.77}]