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
ENST00000370321 [[93297581, 93297674], [93298945, 93299015], [93299101, 93299217], [93300335, 93300470], [93301746, 93301949], [93303012, 93303190], [93306107, 93306196], [93307322, 93307481]] [[93297671, 93297674], [93298945, 93299015], [93299101, 93299217], [93300335, 93300470], [93301746, 93301949], [93303012, 93303190], [93306107, 93306196], [93307322, 93307422]]
ENST00000470843 [[93297620, 93297674], [93298945, 93299015], [93299101, 93299217], [93299352, 93299506], [93300335, 93300470], [93301746, 93301911]] [[93297671, 93297674], [93298945, 93299015], [93299101, 93299217], [93299352, 93299355]]
ENST00000315741 [[93297665, 93297808], [93298945, 93299015], [93299101, 93299217], [93300335, 93300470], [93301746, 93301949], [93303012, 93303026]] [[93299178, 93299217], [93300335, 93300470], [93301746, 93301949], [93303012, 93303026]]
ENST00000461952 [[93298318, 93299217], [93300335, 93300470], [93301746, 93301828]] None
ENST00000497519 [[93302166, 93303190], [93306107, 93306196], [93307322, 93307419]] None
NM_000969 [[93297593, 93297674], [93298945, 93299015], [93299101, 93299217], [93300335, 93300470], [93301746, 93301949], [93303012, 93303190], [93306107, 93306196], [93307322, 93307481]] [[93297671, 93297674], [93298945, 93299015], [93299101, 93299217], [93300335, 93300470], [93301746, 93301949], [93303012, 93303190], [93306107, 93306196], [93307322, 93307422]]
Promoter
Chrom Start End Description
chr1 93297586 93297609 CAGE_peak_1_at_RPL5_5end
chr1 93297622 93297635 CAGE_peak_2_at_RPL5_5end
chr1 93300357 93300363 CAGE_peak_3_at_RPL5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I092902 92902783 92904779 0.38 [{'connected_gene': 'EVI5', 'score': 11.06}, {'connected_gene': 'RPL5', 'score': 11.04}, {'connected_gene': 'RNU6-970P', 'score': 10.28}, {'connected_gene': 'LOC100289500', 'score': 5.55}, {'connected_gene': 'LOC100127934', 'score': 0.31}, {'connected_gene': 'GC01M092852', 'score': 0.25}, {'connected_gene': 'FAM69A', 'score': 0.22}]
chr1 GH01I092857 92857770 92858511 0.6 [{'connected_gene': 'EVI5', 'score': 20.55}, {'connected_gene': 'SNORD21', 'score': 11.6}, {'connected_gene': 'RPL5', 'score': 11.58}, {'connected_gene': 'RNU6-970P', 'score': 11.13}, {'connected_gene': 'FAM69A', 'score': 9.54}, {'connected_gene': 'GC01M092852', 'score': 0.77}, {'connected_gene': 'LOC100127934', 'score': 0.19}]
chr1 GH01I092858 92858801 92859600 1.32 [{'connected_gene': 'EVI5', 'score': 20.91}, {'connected_gene': 'SNORD21', 'score': 11.6}, {'connected_gene': 'RPL5', 'score': 11.58}, {'connected_gene': 'RNU6-970P', 'score': 11.13}, {'connected_gene': 'GC01M092852', 'score': 0.44}, {'connected_gene': 'LOC100127934', 'score': 0.19}, {'connected_gene': 'FAM69A', 'score': 0.15}]
chr1 GH01I092949 92949583 92954160 1.38 [{'connected_gene': 'EVI5', 'score': 21.74}, {'connected_gene': 'SNORD21', 'score': 11.09}, {'connected_gene': 'SNORA66', 'score': 11.09}, {'connected_gene': 'RPL5', 'score': 11.08}, {'connected_gene': 'FAM69A', 'score': 7.95}, {'connected_gene': 'GC01P092958', 'score': 0.44}, {'connected_gene': 'GC01P092939', 'score': 0.39}]
chr1 GH01I093773 93773378 93782833 1.66 [{'connected_gene': 'MIG7', 'score': 54.98}, {'connected_gene': 'SNORA66', 'score': 23.6}, {'connected_gene': 'BCAR3', 'score': 16.21}, {'connected_gene': 'SNORD21', 'score': 11.54}, {'connected_gene': 'LOC100129046', 'score': 11.01}, {'connected_gene': 'RPL5', 'score': 11.0}, {'connected_gene': 'DNTTIP2', 'score': 10.37}, {'connected_gene': 'GCLM', 'score': 6.2}, {'connected_gene': 'TRR-TCT1-1', 'score': 5.88}, {'connected_gene': 'ARHGAP29', 'score': 1.65}, {'connected_gene': 'FNBP1L', 'score': 1.25}, {'connected_gene': 'GC01M093783', 'score': 0.34}]
chr1 GH01I091882 91882840 91887238 2.27 [{'connected_gene': 'TGFBR3', 'score': 560.88}, {'connected_gene': 'HFM1', 'score': 36.23}, {'connected_gene': 'RPAP2', 'score': 22.53}, {'connected_gene': 'SNORA66', 'score': 18.46}, {'connected_gene': 'SNORD21', 'score': 18.06}, {'connected_gene': 'RPL5', 'score': 16.44}, {'connected_gene': 'GLMN', 'score': 15.32}, {'connected_gene': 'ENSG00000189195', 'score': 13.24}, {'connected_gene': 'ZNF644', 'score': 10.57}, {'connected_gene': 'GC01M091855', 'score': 0.39}]
chr1 GH01I092979 92979718 92982670 0.96 [{'connected_gene': 'RPL5', 'score': 10.68}, {'connected_gene': 'SNORD21', 'score': 10.68}, {'connected_gene': 'SNORA66', 'score': 10.68}, {'connected_gene': 'FAM69A', 'score': 7.75}, {'connected_gene': 'GC01P092987', 'score': 0.44}, {'connected_gene': 'RN7SL692P', 'score': 0.44}, {'connected_gene': 'GC01P092961', 'score': 0.34}]
chr1 GH01I092831 92831312 92835545 2.14 [{'connected_gene': 'RPL5', 'score': 611.59}, {'connected_gene': 'GC01P092832', 'score': 550.77}, {'connected_gene': 'SNORA66', 'score': 94.11}, {'connected_gene': 'SNORD21', 'score': 86.82}, {'connected_gene': 'CCDC18-AS1', 'score': 63.47}, {'connected_gene': 'MTF2', 'score': 60.33}, {'connected_gene': 'MIG7', 'score': 42.32}, {'connected_gene': 'DR1', 'score': 40.0}, {'connected_gene': 'GLMN', 'score': 28.81}, {'connected_gene': 'RPAP2', 'score': 19.39}, {'connected_gene': 'KIAA1107', 'score': 10.88}, {'connected_gene': 'ENSG00000189195', 'score': 10.09}, {'connected_gene': 'EVI5', 'score': 9.9}, {'connected_gene': 'TGFBR3', 'score': 9.87}, {'connected_gene': 'FAM69A', 'score': 9.6}, {'connected_gene': 'GC01P092838', 'score': 0.77}]
chr1 GH01I092907 92907657 92910902 0.62 [{'connected_gene': 'FAM69A', 'score': 11.75}, {'connected_gene': 'EVI5', 'score': 11.05}, {'connected_gene': 'SNORA66', 'score': 10.39}, {'connected_gene': 'SNORD21', 'score': 10.38}, {'connected_gene': 'RPL5', 'score': 10.37}, {'connected_gene': 'LOC100127934', 'score': 0.34}, {'connected_gene': 'GC01M092852', 'score': 0.22}]
chr1 GH01I092822 92822587 92823527 0.71 [{'connected_gene': 'FAM69A', 'score': 8.94}, {'connected_gene': 'RPL5', 'score': 0.44}, {'connected_gene': 'GC01M092816', 'score': 0.44}]
chr1 GH01I093041 93041915 93043322 0.95 [{'connected_gene': 'FAM69A', 'score': 11.58}, {'connected_gene': 'MTF2', 'score': 11.29}, {'connected_gene': 'SNORA66', 'score': 10.63}, {'connected_gene': 'SNORD21', 'score': 10.62}, {'connected_gene': 'RPL5', 'score': 10.62}, {'connected_gene': 'EVI5', 'score': 7.82}, {'connected_gene': 'ENSG00000251837', 'score': 0.37}, {'connected_gene': 'GC01M093028', 'score': 0.37}, {'connected_gene': 'GC01M093059', 'score': 0.34}]
chr1 GH01I093000 93000259 93001413 0.77 [{'connected_gene': 'FAM69A', 'score': 16.2}, {'connected_gene': 'RNU6-970P', 'score': 11.82}, {'connected_gene': 'RPL5', 'score': 10.31}, {'connected_gene': 'SNORA66', 'score': 10.31}, {'connected_gene': 'SNORD21', 'score': 10.31}, {'connected_gene': 'EVI5', 'score': 9.22}, {'connected_gene': 'GC01P093011', 'score': 0.44}, {'connected_gene': 'GC01P092987', 'score': 0.39}]
chr1 GH01I093177 93177600 93182349 2.32 [{'connected_gene': 'CCDC18', 'score': 560.56}, {'connected_gene': 'GC01M093180', 'score': 550.77}, {'connected_gene': 'TMED5', 'score': 550.77}, {'connected_gene': 'CCDC18-AS1', 'score': 96.21}, {'connected_gene': 'SNORA66', 'score': 67.22}, {'connected_gene': 'SNORD21', 'score': 58.68}, {'connected_gene': 'RPL5', 'score': 43.08}, {'connected_gene': 'MIG7', 'score': 30.1}, {'connected_gene': 'DNTTIP2', 'score': 29.51}, {'connected_gene': 'RPAP2', 'score': 22.5}, {'connected_gene': 'GLMN', 'score': 21.01}, {'connected_gene': 'MTF2', 'score': 12.3}, {'connected_gene': 'DR1', 'score': 10.04}, {'connected_gene': 'FNBP1L', 'score': 4.7}]
chr1 GH01I092536 92536097 92539244 1.63 [{'connected_gene': 'SNORA66', 'score': 17.61}, {'connected_gene': 'EVI5', 'score': 15.51}, {'connected_gene': 'CCDC18-AS1', 'score': 13.49}, {'connected_gene': 'SNORD21', 'score': 12.39}, {'connected_gene': 'RPL5', 'score': 11.5}, {'connected_gene': 'FAM69A', 'score': 10.51}, {'connected_gene': 'RPAP2', 'score': 3.08}, {'connected_gene': 'GLMN', 'score': 2.89}, {'connected_gene': 'GFI1', 'score': 2.06}, {'connected_gene': 'GC01P092533', 'score': 0.77}, {'connected_gene': 'GC01P092559', 'score': 0.34}]
chr1 GH01I092803 92803513 92806601 1.38 [{'connected_gene': 'MTF2', 'score': 21.51}, {'connected_gene': 'GLMN', 'score': 21.33}, {'connected_gene': 'CCDC18-AS1', 'score': 15.75}, {'connected_gene': 'RPAP2', 'score': 14.01}, {'connected_gene': 'EVI5', 'score': 12.13}, {'connected_gene': 'MIG7', 'score': 11.61}, {'connected_gene': 'RPL5', 'score': 11.33}, {'connected_gene': 'SNORD21', 'score': 11.31}, {'connected_gene': 'SNORA66', 'score': 11.29}, {'connected_gene': 'GC01M092807', 'score': 0.77}]
chr1 GH01I093078 93078194 93082676 2.16 [{'connected_gene': 'MTF2', 'score': 602.55}, {'connected_gene': 'CCDC18-AS1', 'score': 148.72}, {'connected_gene': 'SNORA66', 'score': 54.71}, {'connected_gene': 'SNORD21', 'score': 50.35}, {'connected_gene': 'TRR-TCT1-1', 'score': 41.02}, {'connected_gene': 'GLMN', 'score': 40.91}, {'connected_gene': 'RPAP2', 'score': 40.48}, {'connected_gene': 'RPL5', 'score': 29.2}, {'connected_gene': 'DR1', 'score': 27.09}, {'connected_gene': 'DNTTIP2', 'score': 21.03}, {'connected_gene': 'KIAA1107', 'score': 14.18}, {'connected_gene': 'CCDC18', 'score': 10.93}, {'connected_gene': 'TMED5', 'score': 10.93}, {'connected_gene': 'FAM69A', 'score': 6.36}, {'connected_gene': 'GC01P093073', 'score': 0.44}, {'connected_gene': 'GC01P093147', 'score': 0.2}]
chr1 GH01I093032 93032972 93034513 1.07 [{'connected_gene': 'RNU6-210P', 'score': 11.45}, {'connected_gene': 'MTF2', 'score': 11.06}, {'connected_gene': 'RNU6-970P', 'score': 10.62}, {'connected_gene': 'RPL5', 'score': 10.59}, {'connected_gene': 'ENSG00000207022', 'score': 10.11}, {'connected_gene': 'GC01M093028', 'score': 0.44}, {'connected_gene': 'ENSG00000251837', 'score': 0.44}, {'connected_gene': 'GC01M093059', 'score': 0.31}]
chr1 GH01I092973 92973624 92973773 0.89 [{'connected_gene': 'RN7SL692P', 'score': 550.77}, {'connected_gene': 'MTF2', 'score': 10.63}, {'connected_gene': 'RPL5', 'score': 10.62}, {'connected_gene': 'RNU6-970P', 'score': 0.77}, {'connected_gene': 'GC01P092961', 'score': 0.39}]
chr1 GH01I092974 92973201 92973400 0.72 [{'connected_gene': 'RN7SL692P', 'score': 550.77}, {'connected_gene': 'MTF2', 'score': 10.63}, {'connected_gene': 'RPL5', 'score': 10.62}, {'connected_gene': 'RNU6-970P', 'score': 0.77}, {'connected_gene': 'GC01P092961', 'score': 0.39}]
chr1 GH01I092975 92973776 92979042 1.32 [{'connected_gene': 'RN7SL692P', 'score': 550.77}, {'connected_gene': 'MTF2', 'score': 29.12}, {'connected_gene': 'CCDC18-AS1', 'score': 16.78}, {'connected_gene': 'SNORA66', 'score': 15.88}, {'connected_gene': 'TRR-TCT1-1', 'score': 14.66}, {'connected_gene': 'SNORD21', 'score': 12.06}, {'connected_gene': 'RPL5', 'score': 10.62}, {'connected_gene': 'EVI5', 'score': 10.43}, {'connected_gene': 'KIAA1107', 'score': 10.41}, {'connected_gene': 'MIG7', 'score': 10.27}, {'connected_gene': 'DR1', 'score': 10.16}, {'connected_gene': 'FAM69A', 'score': 8.32}, {'connected_gene': 'GC01P092987', 'score': 0.39}, {'connected_gene': 'GC01P092961', 'score': 0.37}]
chr1 GH01I092752 92752450 92755153 0.84 [{'connected_gene': 'CCNJP2', 'score': 550.77}, {'connected_gene': 'EVI5', 'score': 15.61}, {'connected_gene': 'RPL5', 'score': 11.43}, {'connected_gene': 'RNU4-59P', 'score': 11.16}, {'connected_gene': 'SNORD21', 'score': 10.9}, {'connected_gene': 'SNORA66', 'score': 10.89}, {'connected_gene': 'ENSG00000234202', 'score': 0.77}]
chr1 GH01I092755 92755408 92757008 0.8 [{'connected_gene': 'CCNJP2', 'score': 550.77}, {'connected_gene': 'RPL5', 'score': 11.43}, {'connected_gene': 'RNU4-59P', 'score': 11.15}, {'connected_gene': 'SNORD21', 'score': 10.9}, {'connected_gene': 'SNORA66', 'score': 10.9}, {'connected_gene': 'EVI5', 'score': 7.92}]
chr1 GH01I093565 93565405 93568448 1.19 [{'connected_gene': 'CCDC18-AS1', 'score': 30.43}, {'connected_gene': 'SNORA66', 'score': 28.11}, {'connected_gene': 'SNORD21', 'score': 23.13}, {'connected_gene': 'BCAR3', 'score': 22.37}, {'connected_gene': 'LOC100129046', 'score': 18.29}, {'connected_gene': 'RPL5', 'score': 13.41}, {'connected_gene': 'DR1', 'score': 12.73}, {'connected_gene': 'GC01M093557', 'score': 0.44}, {'connected_gene': 'GC01P093543', 'score': 0.34}, {'connected_gene': 'FNBP1L', 'score': 0.13}]
chr1 GH01I093441 93441824 93443160 0.85 [{'connected_gene': 'CCDC18-AS1', 'score': 35.92}, {'connected_gene': 'SNORA66', 'score': 15.01}, {'connected_gene': 'SNORD21', 'score': 14.77}, {'connected_gene': 'DR1', 'score': 11.11}, {'connected_gene': 'RPL5', 'score': 10.52}, {'connected_gene': 'DNTTIP2', 'score': 10.23}, {'connected_gene': 'CCDC18', 'score': 8.99}, {'connected_gene': 'FNBP1L', 'score': 5.5}, {'connected_gene': 'ENSG00000207379', 'score': 0.22}]
chr1 GH01I092926 92926193 92931734 0.63 [{'connected_gene': 'LOC100127934', 'score': 550.77}, {'connected_gene': 'EVI5', 'score': 12.24}, {'connected_gene': 'SNORA66', 'score': 10.65}, {'connected_gene': 'SNORD21', 'score': 10.64}, {'connected_gene': 'RPL5', 'score': 10.63}, {'connected_gene': 'FAM69A', 'score': 6.98}, {'connected_gene': 'GC01M092852', 'score': 0.18}]
chr1 GH01I092810 92810147 92811190 0.46 [{'connected_gene': 'GC01M092807', 'score': 550.77}, {'connected_gene': 'RPL5', 'score': 11.36}, {'connected_gene': 'SNORD21', 'score': 11.33}, {'connected_gene': 'SNORA66', 'score': 11.31}, {'connected_gene': 'EVI5', 'score': 9.91}, {'connected_gene': 'FAM69A', 'score': 9.82}, {'connected_gene': 'GC01M092816', 'score': 0.44}]
chr1 GH01I092808 92808365 92809193 0.46 [{'connected_gene': 'GC01M092807', 'score': 550.77}, {'connected_gene': 'RPL5', 'score': 11.36}, {'connected_gene': 'SNORD21', 'score': 11.33}, {'connected_gene': 'SNORA66', 'score': 11.31}, {'connected_gene': 'FAM69A', 'score': 9.44}, {'connected_gene': 'EVI5', 'score': 0.37}]
chr1 GH01I092853 92853844 92854943 0.43 [{'connected_gene': 'GC01M092852', 'score': 550.77}, {'connected_gene': 'FAM69A', 'score': 18.38}, {'connected_gene': 'EVI5', 'score': 16.31}, {'connected_gene': 'RPL5', 'score': 11.6}, {'connected_gene': 'RNU6-970P', 'score': 11.12}, {'connected_gene': 'LOC100127934', 'score': 0.18}]
chr1 GH01I092854 92853464 92853613 0.31 [{'connected_gene': 'GC01M092852', 'score': 550.77}, {'connected_gene': 'FAM69A', 'score': 11.69}, {'connected_gene': 'RPL5', 'score': 11.04}, {'connected_gene': 'GC01M092844', 'score': 0.44}]
chr1 GH01I092852 92852284 92852433 0.84 [{'connected_gene': 'GC01M092852', 'score': 550.77}, {'connected_gene': 'FAM69A', 'score': 11.69}, {'connected_gene': 'RPL5', 'score': 11.04}, {'connected_gene': 'GC01M092844', 'score': 0.44}]
chr1 GH01I092079 92079801 92081405 1.97 [{'connected_gene': 'ENSG00000189195', 'score': 550.77}, {'connected_gene': 'BTBD8', 'score': 550.77}, {'connected_gene': 'SNORA66', 'score': 11.68}, {'connected_gene': 'SNORD21', 'score': 11.54}, {'connected_gene': 'RPL5', 'score': 11.0}, {'connected_gene': 'KIAA1107', 'score': 6.8}, {'connected_gene': 'GAPDHP46', 'score': 0.28}, {'connected_gene': 'GC01P092039', 'score': 0.26}]
chr1 GH01I091872 91872444 91873152 1.3 [{'connected_gene': 'GC01M091855', 'score': 550.77}, {'connected_gene': 'SNORA66', 'score': 11.68}, {'connected_gene': 'SNORD21', 'score': 11.54}, {'connected_gene': 'RPL5', 'score': 11.0}, {'connected_gene': 'ZNF644', 'score': 9.69}, {'connected_gene': 'TGFBR3', 'score': 0.29}, {'connected_gene': 'GC01P091842', 'score': 0.29}]
chr1 GH01I092922 92922464 92922613 0.68 [{'connected_gene': 'ENSG00000207022', 'score': 10.43}, {'connected_gene': 'SNORA66', 'score': 10.3}, {'connected_gene': 'SNORD21', 'score': 10.29}, {'connected_gene': 'RPL5', 'score': 10.28}, {'connected_gene': 'LOC100127934', 'score': 0.44}, {'connected_gene': 'FAM69A', 'score': 0.28}, {'connected_gene': 'GC01M092852', 'score': 0.2}]
chr1 GH01I092924 92924292 92925031 0.92 [{'connected_gene': 'ENSG00000207022', 'score': 10.43}, {'connected_gene': 'SNORA66', 'score': 10.3}, {'connected_gene': 'SNORD21', 'score': 10.29}, {'connected_gene': 'RPL5', 'score': 10.28}, {'connected_gene': 'LOC100127934', 'score': 0.44}, {'connected_gene': 'FAM69A', 'score': 0.28}, {'connected_gene': 'GC01M092852', 'score': 0.19}]

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