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
ENST00000439174 [[63006832, 63010947], [63014370, 63014421], [63049619, 63049846], [63052428, 63052957]] [[63010374, 63010947], [63014370, 63014421], [63049619, 63049846], [63052428, 63052711]]
ENST00000541118 [[63009905, 63010947], [63014370, 63014421], [63049619, 63049846], [63051710, 63051892]] [[63010374, 63010947], [63014370, 63014421], [63049619, 63049844]]
NM_001282425 [[63005406, 63010947], [63014370, 63014421], [63049619, 63049846], [63051710, 63051892]] [[63010374, 63010947], [63014370, 63014421], [63049619, 63049844]]
NM_006572 [[63005406, 63010947], [63014370, 63014421], [63049619, 63049846], [63052428, 63052920]] [[63010374, 63010947], [63014370, 63014421], [63049619, 63049846], [63052428, 63052711]]
Promoter
Chrom Start End Description
chr17 63052484 63052514 CAGE_peak_9_at_GNA13_5end
chr17 63052607 63052621 CAGE_peak_5_at_GNA13_5end
chr17 63052647 63052656 CAGE_peak_8_at_GNA13_5end
chr17 63052700 63052739 CAGE_peak_3_at_GNA13_5end
chr17 63052777 63052871 CAGE_peak_1_at_GNA13_5end
chr17 63052873 63052927 CAGE_peak_2_at_GNA13_5end
chr17 63052929 63052962 CAGE_peak_4_at_GNA13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I064992 64992383 64992612 1.1 [{'connected_gene': 'CEP95', 'score': 27.83}, {'connected_gene': 'POLG2', 'score': 22.73}, {'connected_gene': 'SLC16A6P1', 'score': 20.73}, {'connected_gene': 'DDX5', 'score': 17.04}, {'connected_gene': 'PLEKHM1P1', 'score': 15.09}, {'connected_gene': 'ENSG00000281311', 'score': 14.08}, {'connected_gene': 'ENSG00000265982', 'score': 12.64}, {'connected_gene': 'GNA13', 'score': 11.87}, {'connected_gene': 'ERN1', 'score': 11.35}, {'connected_gene': 'GC17P064985', 'score': 0.44}, {'connected_gene': 'ENSG00000266598', 'score': 0.22}, {'connected_gene': 'GC17M064881', 'score': 0.2}]
chr17 GH17I064964 64964801 64971187 1.73 [{'connected_gene': 'RGS9', 'score': 14.08}, {'connected_gene': 'GNA13', 'score': 13.28}, {'connected_gene': 'CEP95', 'score': 2.56}, {'connected_gene': 'DDX5', 'score': 1.62}, {'connected_gene': 'AMZ2P1', 'score': 0.44}, {'connected_gene': 'SLC16A6P1', 'score': 0.39}, {'connected_gene': 'GC17M064881', 'score': 0.16}]
chr17 GH17I065163 65163549 65164756 1.23 [{'connected_gene': 'RGS9', 'score': 5.51}, {'connected_gene': 'GNA13', 'score': 3.31}, {'connected_gene': 'ZNF848P', 'score': 0.39}, {'connected_gene': 'LOC100507002', 'score': 0.21}]
chr17 GH17I065178 65178765 65183066 1.47 [{'connected_gene': 'RGS9', 'score': 17.42}, {'connected_gene': 'GNA13', 'score': 11.14}, {'connected_gene': 'ENSG00000265883', 'score': 0.77}, {'connected_gene': 'ZNF848P', 'score': 0.77}]
chr17 GH17I065191 65191504 65193350 0.88 [{'connected_gene': 'RGS9', 'score': 16.97}, {'connected_gene': 'GNA13', 'score': 10.8}, {'connected_gene': 'ENSG00000265883', 'score': 0.44}, {'connected_gene': 'GC17M065237', 'score': 0.26}]
chr17 GH17I065198 65198601 65199012 0.97 [{'connected_gene': 'RGS9', 'score': 11.62}, {'connected_gene': 'GNA13', 'score': 11.05}, {'connected_gene': 'ENSG00000265883', 'score': 0.39}, {'connected_gene': 'GC17M065237', 'score': 0.28}]
chr17 GH17I065193 65193407 65194433 0.65 [{'connected_gene': 'RGS9', 'score': 12.39}, {'connected_gene': 'GNA13', 'score': 10.8}, {'connected_gene': 'ENSG00000265883', 'score': 0.44}, {'connected_gene': 'GC17M065237', 'score': 0.26}]
chr17 GH17I065036 65036201 65037800 0.89 [{'connected_gene': 'AMZ2P1', 'score': 13.36}, {'connected_gene': 'RGS9', 'score': 10.85}, {'connected_gene': 'CEP95', 'score': 9.91}, {'connected_gene': 'ENSG00000266598', 'score': 0.39}, {'connected_gene': 'GNA13', 'score': 0.37}, {'connected_gene': 'GC17M064881', 'score': 0.34}, {'connected_gene': 'GC17P064985', 'score': 0.23}]
chr17 GH17I065038 65038594 65043228 1.5 [{'connected_gene': 'AMZ2P1', 'score': 16.91}, {'connected_gene': 'RGS9', 'score': 11.0}, {'connected_gene': 'SLC16A6P1', 'score': 10.34}, {'connected_gene': 'GNA13', 'score': 6.9}, {'connected_gene': 'ENSG00000266598', 'score': 0.39}, {'connected_gene': 'GC17M064881', 'score': 0.34}, {'connected_gene': 'GC17P064985', 'score': 0.22}]
chr17 GH17I064973 64973675 64976819 1.79 [{'connected_gene': 'AMZ2P1', 'score': 592.57}, {'connected_gene': 'POLG2', 'score': 16.21}, {'connected_gene': 'SLC16A6P1', 'score': 14.01}, {'connected_gene': 'GNA13', 'score': 10.84}, {'connected_gene': 'CEP95', 'score': 10.34}, {'connected_gene': 'GC17M064881', 'score': 0.17}]
chr17 GH17I064999 64998883 64999847 0.38 [{'connected_gene': 'AMZ2P1', 'score': 29.59}, {'connected_gene': 'GNA13', 'score': 11.49}, {'connected_gene': 'RGS9', 'score': 10.92}, {'connected_gene': 'GC17P064985', 'score': 0.39}, {'connected_gene': 'ENSG00000266598', 'score': 0.23}, {'connected_gene': 'GC17M064881', 'score': 0.21}]
chr17 GH17I065000 65000102 65001167 0.31 [{'connected_gene': 'AMZ2P1', 'score': 23.43}, {'connected_gene': 'GNA13', 'score': 12.02}, {'connected_gene': 'RGS9', 'score': 10.92}, {'connected_gene': 'GC17P064985', 'score': 0.39}, {'connected_gene': 'ENSG00000266598', 'score': 0.23}, {'connected_gene': 'GC17M064881', 'score': 0.21}]
chr17 GH17I064995 64995488 64995879 0.88 [{'connected_gene': 'AMZ2P1', 'score': 37.86}, {'connected_gene': 'GNA13', 'score': 16.01}, {'connected_gene': 'DDX5', 'score': 1.23}, {'connected_gene': 'CEP95', 'score': 1.18}, {'connected_gene': 'GC17P064985', 'score': 0.44}, {'connected_gene': 'ENSG00000266598', 'score': 0.22}, {'connected_gene': 'GC17M064881', 'score': 0.2}]
chr17 GH17I064988 64988002 64990012 1.38 [{'connected_gene': 'AMZ2P1', 'score': 42.68}, {'connected_gene': 'GNA13', 'score': 22.58}, {'connected_gene': 'DDX5', 'score': 5.55}, {'connected_gene': 'CEP95', 'score': 1.5}, {'connected_gene': 'GC17P064985', 'score': 0.77}, {'connected_gene': 'ENSG00000266598', 'score': 0.21}, {'connected_gene': 'GC17M064881', 'score': 0.19}]
chr17 GH17I065005 65005782 65006355 0.63 [{'connected_gene': 'AMZ2P1', 'score': 24.8}, {'connected_gene': 'GNA13', 'score': 12.03}, {'connected_gene': 'GC17P064985', 'score': 0.34}, {'connected_gene': 'ENSG00000266598', 'score': 0.25}, {'connected_gene': 'GC17M064881', 'score': 0.23}]
chr17 GH17I064996 64996713 64998146 0.38 [{'connected_gene': 'AMZ2P1', 'score': 19.42}, {'connected_gene': 'GNA13', 'score': 11.88}, {'connected_gene': 'GC17P064985', 'score': 0.39}, {'connected_gene': 'ENSG00000266598', 'score': 0.23}, {'connected_gene': 'GC17M064881', 'score': 0.21}]
chr17 GH17I065003 65003328 65005123 0.49 [{'connected_gene': 'AMZ2P1', 'score': 45.99}, {'connected_gene': 'GNA13', 'score': 12.03}, {'connected_gene': 'GC17P064985', 'score': 0.37}, {'connected_gene': 'ENSG00000266598', 'score': 0.25}, {'connected_gene': 'GC17M064881', 'score': 0.22}]
chr17 GH17I065001 65001783 65001912 0.84 [{'connected_gene': 'AMZ2P1', 'score': 18.78}, {'connected_gene': 'GNA13', 'score': 12.03}, {'connected_gene': 'GC17P064985', 'score': 0.37}, {'connected_gene': 'ENSG00000266598', 'score': 0.23}, {'connected_gene': 'GC17M064881', 'score': 0.22}]
chr17 GH17I064993 64993043 64995271 0.77 [{'connected_gene': 'AMZ2P1', 'score': 43.51}, {'connected_gene': 'GNA13', 'score': 11.87}, {'connected_gene': 'GC17P064985', 'score': 0.44}, {'connected_gene': 'ENSG00000266598', 'score': 0.22}, {'connected_gene': 'GC17M064881', 'score': 0.2}]
chr17 GH17I065043 65043793 65044158 0.58 [{'connected_gene': 'AMZ2P1', 'score': 19.92}, {'connected_gene': 'ENSG00000266598', 'score': 0.44}, {'connected_gene': 'GNA13', 'score': 0.39}, {'connected_gene': 'GC17M064881', 'score': 0.37}, {'connected_gene': 'GC17P064985', 'score': 0.22}]
chr17 GH17I065194 65194763 65194912 0.66 [{'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'PLEKHM1P1', 'score': 15.04}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'ENSG00000265982', 'score': 12.61}, {'connected_gene': 'RGS9', 'score': 12.39}, {'connected_gene': 'SLC16A6P1', 'score': 12.07}, {'connected_gene': 'GNA13', 'score': 10.8}, {'connected_gene': 'ENSG00000265883', 'score': 0.44}, {'connected_gene': 'GC17M065237', 'score': 0.26}]
chr17 GH17I065087 65087613 65089664 0.76 [{'connected_gene': 'GNA13', 'score': 12.1}, {'connected_gene': 'SLC16A6P1', 'score': 5.44}, {'connected_gene': 'GC17P065092', 'score': 0.77}, {'connected_gene': 'LOC105371864', 'score': 0.39}, {'connected_gene': 'GC17M065077', 'score': 0.39}]
chr17 GH17I065021 65021997 65024544 1.52 [{'connected_gene': 'GNA13', 'score': 21.94}, {'connected_gene': 'RGS9', 'score': 12.02}, {'connected_gene': 'ARHGAP27P1-BPTFP1-KPNA2P3', 'score': 4.94}, {'connected_gene': 'ENSG00000266598', 'score': 0.31}, {'connected_gene': 'GC17M064881', 'score': 0.28}, {'connected_gene': 'GC17P064985', 'score': 0.28}]
chr17 GH17I065115 65115419 65116422 0.31 [{'connected_gene': 'GNA13', 'score': 11.33}, {'connected_gene': 'RGS9', 'score': 7.79}, {'connected_gene': 'LOC100507002', 'score': 0.37}, {'connected_gene': 'ZNF848P', 'score': 0.21}]
chr17 GH17I065035 65035343 65035800 0.94 [{'connected_gene': 'GNA13', 'score': 12.39}, {'connected_gene': 'RGS9', 'score': 10.85}, {'connected_gene': 'ENSG00000266598', 'score': 0.37}, {'connected_gene': 'GC17M064881', 'score': 0.31}, {'connected_gene': 'GC17P064985', 'score': 0.25}]
chr17 GH17I064998 64998563 64998712 0.4 [{'connected_gene': 'GNA13', 'score': 11.49}, {'connected_gene': 'RGS9', 'score': 10.92}, {'connected_gene': 'GC17P064985', 'score': 0.39}, {'connected_gene': 'ENSG00000266598', 'score': 0.23}, {'connected_gene': 'GC17M064881', 'score': 0.21}]
chr17 GH17I065047 65047109 65049454 1.34 [{'connected_gene': 'GNA13', 'score': 16.12}, {'connected_gene': 'RGS9', 'score': 11.19}, {'connected_gene': 'ENSG00000266598', 'score': 0.77}, {'connected_gene': 'GC17M064881', 'score': 0.39}, {'connected_gene': 'GC17P064985', 'score': 0.21}]
chr17 GH17I064921 64921723 64924704 1.35 [{'connected_gene': 'GNA13', 'score': 11.29}, {'connected_gene': 'ENSG00000264057', 'score': 0.77}, {'connected_gene': 'LRRC37A3', 'score': 0.77}, {'connected_gene': 'GC17P064882', 'score': 0.26}, {'connected_gene': 'GC17M064881', 'score': 0.12}]
chr17 GH17I065054 65054015 65059415 2.56 [{'connected_gene': 'GNA13', 'score': 554.64}, {'connected_gene': 'AMZ2P1', 'score': 17.26}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'PLEKHM1P1', 'score': 15.07}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.08}, {'connected_gene': 'CEP95', 'score': 13.11}, {'connected_gene': 'ENSG00000265982', 'score': 12.62}, {'connected_gene': 'SLC16A6P1', 'score': 12.15}, {'connected_gene': 'ERN1', 'score': 11.35}, {'connected_gene': 'RGS9', 'score': 10.86}, {'connected_gene': 'GC17M064881', 'score': 0.77}, {'connected_gene': 'ENSG00000266598', 'score': 0.77}]
chr17 GH17I064990 64990801 64991266 1.3 [{'connected_gene': 'GNA13', 'score': 21.64}, {'connected_gene': 'AMZ2P1', 'score': 15.01}, {'connected_gene': 'DDX5', 'score': 3.3}, {'connected_gene': 'GC17P064985', 'score': 0.44}, {'connected_gene': 'ENSG00000266598', 'score': 0.21}, {'connected_gene': 'GC17M064881', 'score': 0.2}]
chr17 GH17I065105 65105971 65108191 1.14 [{'connected_gene': 'GNA13', 'score': 11.18}, {'connected_gene': 'LOC100507002', 'score': 0.44}, {'connected_gene': 'RGS9', 'score': 0.44}, {'connected_gene': 'ZNF848P', 'score': 0.2}]
chr17 GH17I065008 65008584 65011171 0.68 [{'connected_gene': 'GNA13', 'score': 11.48}, {'connected_gene': 'GC17P064985', 'score': 0.34}, {'connected_gene': 'ENSG00000266598', 'score': 0.26}, {'connected_gene': 'GC17M064881', 'score': 0.23}]
chr17 GH17I065020 65020076 65020811 1.02 [{'connected_gene': 'GNA13', 'score': 11.62}, {'connected_gene': 'GC17P064985', 'score': 0.29}, {'connected_gene': 'ENSG00000266598', 'score': 0.29}, {'connected_gene': 'GC17M064881', 'score': 0.26}]
chr17 GH17I065019 65019601 65019800 0.4 [{'connected_gene': 'GNA13', 'score': 11.62}, {'connected_gene': 'GC17P064985', 'score': 0.29}, {'connected_gene': 'ENSG00000266598', 'score': 0.29}, {'connected_gene': 'GC17M064881', 'score': 0.26}]
chr17 GH17I065017 65017266 65019400 1.23 [{'connected_gene': 'GNA13', 'score': 11.62}, {'connected_gene': 'GC17P064985', 'score': 0.29}, {'connected_gene': 'ENSG00000266598', 'score': 0.29}, {'connected_gene': 'GC17M064881', 'score': 0.26}]
chr17 GH17I065013 65013376 65014699 0.9 [{'connected_gene': 'GNA13', 'score': 11.49}, {'connected_gene': 'GC17P064985', 'score': 0.31}, {'connected_gene': 'ENSG00000266598', 'score': 0.28}, {'connected_gene': 'GC17M064881', 'score': 0.25}]
chr17 GH17I065179 65178043 65178172 0.69 [{'connected_gene': 'ZNF848P', 'score': 550.77}, {'connected_gene': 'RGS9', 'score': 17.92}, {'connected_gene': 'GNA13', 'score': 10.99}, {'connected_gene': 'ENSG00000265883', 'score': 0.44}]
chr17 GH17I065183 65183295 65185082 1.23 [{'connected_gene': 'ENSG00000265883', 'score': 550.77}, {'connected_gene': 'PLEKHM1P1', 'score': 36.51}, {'connected_gene': 'ENSG00000265982', 'score': 34.43}, {'connected_gene': 'POLG2', 'score': 26.81}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'RGS9', 'score': 12.2}, {'connected_gene': 'SLC16A6P1', 'score': 12.07}, {'connected_gene': 'GNA13', 'score': 11.14}, {'connected_gene': 'MILR1', 'score': 4.27}, {'connected_gene': 'ZNF848P', 'score': 0.44}]
chr17 GH17I065186 65185803 65185952 0.49 [{'connected_gene': 'ENSG00000265883', 'score': 550.77}, {'connected_gene': 'RGS9', 'score': 12.2}, {'connected_gene': 'GNA13', 'score': 11.14}, {'connected_gene': 'MILR1', 'score': 4.27}, {'connected_gene': 'GC17M065237', 'score': 0.23}]
chr17 GH17I065185 65185103 65185233 0.43 [{'connected_gene': 'ENSG00000265883', 'score': 550.77}, {'connected_gene': 'RGS9', 'score': 12.2}, {'connected_gene': 'GNA13', 'score': 11.14}, {'connected_gene': 'ZNF848P', 'score': 0.44}]
chr17 GH17I065060 65060401 65061066 0.51 [{'connected_gene': 'GC17M064881', 'score': 550.77}, {'connected_gene': 'AMZ2P1', 'score': 20.66}, {'connected_gene': 'RGS9', 'score': 10.86}, {'connected_gene': 'GNA13', 'score': 0.77}]
chr17 GH17I065061 65061755 65065468 1.54 [{'connected_gene': 'GC17P065064', 'score': 550.77}, {'connected_gene': 'AMZ2P1', 'score': 27.01}, {'connected_gene': 'RGS9', 'score': 11.13}, {'connected_gene': 'GNA13', 'score': 3.03}, {'connected_gene': 'GC17M064881', 'score': 0.77}]
chr17 GH17I064983 64983144 64987599 1.68 [{'connected_gene': 'GC17P064985', 'score': 550.77}, {'connected_gene': 'AMZ2P1', 'score': 42.86}, {'connected_gene': 'GNA13', 'score': 31.34}, {'connected_gene': 'DDX5', 'score': 16.42}, {'connected_gene': 'CEP95', 'score': 4.71}, {'connected_gene': 'RGS9', 'score': 1.58}, {'connected_gene': 'LRRC37A3', 'score': 1.47}, {'connected_gene': 'GC17M064881', 'score': 0.18}]
chr17 GH17I065051 65051535 65053449 0.64 [{'connected_gene': 'ENSG00000266598', 'score': 550.77}, {'connected_gene': 'AMZ2P1', 'score': 36.26}, {'connected_gene': 'GNA13', 'score': 0.77}, {'connected_gene': 'GC17M064881', 'score': 0.44}]
chr17 GH17I065122 65122023 65124292 1.53 [{'connected_gene': 'ENSG00000265982', 'score': 37.5}, {'connected_gene': 'DDX5', 'score': 37.47}, {'connected_gene': 'PLEKHM1P1', 'score': 35.61}, {'connected_gene': 'POLG2', 'score': 30.87}, {'connected_gene': 'CEP95', 'score': 29.31}, {'connected_gene': 'SLC16A6P1', 'score': 23.6}, {'connected_gene': 'ENSG00000281311', 'score': 19.21}, {'connected_gene': 'RGS9', 'score': 7.12}, {'connected_gene': 'GNA13', 'score': 1.61}, {'connected_gene': 'LOC100507002', 'score': 0.34}, {'connected_gene': 'ZNF848P', 'score': 0.23}]
chr17 GH17I065026 65026761 65031400 1.24 [{'connected_gene': 'ENSG00000265982', 'score': 12.55}, {'connected_gene': 'POLG2', 'score': 10.65}, {'connected_gene': 'SLC16A6P1', 'score': 10.33}, {'connected_gene': 'ENSG00000266598', 'score': 0.34}, {'connected_gene': 'GNA13', 'score': 0.31}, {'connected_gene': 'GC17M064881', 'score': 0.29}, {'connected_gene': 'GC17P064985', 'score': 0.26}]

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