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
ENST00000368059 [[160454819, 160456544], [160456893, 160456965], [160458877, 160458957], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466183], [160492933, 160493052]] [[160456496, 160456544], [160456893, 160456965], [160458877, 160458957], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466183], [160492933, 160492982]]
ENST00000368057 [[160454844, 160456544], [160456893, 160456965], [160458877, 160458960], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466183], [160492933, 160493043]] [[160456496, 160456544], [160456893, 160456965], [160458877, 160458960], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466183], [160492933, 160492982]]
ENST00000368055 [[160456482, 160456544], [160456893, 160456965], [160458877, 160458960], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160492933, 160493032]] [[160456496, 160456544], [160456893, 160456965], [160458877, 160458960], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160492933, 160492982]]
NM_001184714 [[160454819, 160456544], [160456893, 160456965], [160458877, 160458960], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466183], [160492933, 160493052]] [[160456496, 160456544], [160456893, 160456965], [160458877, 160458960], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466183], [160492933, 160492982]]
NM_052931 [[160454819, 160456544], [160456893, 160456965], [160458877, 160458957], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466183], [160492933, 160493052]] [[160456496, 160456544], [160456893, 160456965], [160458877, 160458957], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466183], [160492933, 160492982]]
NM_001184715 [[160454819, 160456544], [160456893, 160456965], [160458877, 160458957], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466036], [160492933, 160493052]] [[160456496, 160456544], [160456893, 160456965], [160458877, 160458957], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160465850, 160466036], [160492933, 160492982]]
NM_001184716 [[160454819, 160456544], [160456893, 160456965], [160458877, 160458960], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160492933, 160493052]] [[160456496, 160456544], [160456893, 160456965], [160458877, 160458960], [160459987, 160460026], [160460364, 160460475], [160460914, 160461178], [160492933, 160492982]]
Promoter
Chrom Start End Description
chr1 160492994 160493057 CAGE_peak_1_at_SLAMF6_5end
chr1 160493058 160493069 CAGE_peak_2_at_SLAMF6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I160538 160538049 160545200 1.68 [{'connected_gene': 'CD84', 'score': 17.94}, {'connected_gene': 'SLAMF1', 'score': 16.27}, {'connected_gene': 'VANGL2', 'score': 15.91}, {'connected_gene': 'PPOX', 'score': 10.1}, {'connected_gene': 'ENSG00000228863', 'score': 9.93}, {'connected_gene': 'SLAMF8', 'score': 9.78}, {'connected_gene': 'TSTD1', 'score': 5.87}, {'connected_gene': 'SLAMF6', 'score': 4.36}, {'connected_gene': 'CD48', 'score': 1.96}, {'connected_gene': 'DCAF8', 'score': 1.63}, {'connected_gene': 'LOC105371468', 'score': 0.44}]
chr1 GH01I160573 160573884 160579989 2.33 [{'connected_gene': 'CD84', 'score': 558.28}, {'connected_gene': 'SLAMF7', 'score': 19.38}, {'connected_gene': 'VANGL2', 'score': 13.28}, {'connected_gene': 'SLAMF6', 'score': 10.65}, {'connected_gene': 'SLAMF1', 'score': 10.42}, {'connected_gene': 'CD48', 'score': 5.42}, {'connected_gene': 'CD244', 'score': 4.91}, {'connected_gene': 'ATP1A4', 'score': 1.18}, {'connected_gene': 'LOC105371468', 'score': 0.26}]
chr1 GH01I160565 160565401 160570414 1.44 [{'connected_gene': 'CD84', 'score': 22.66}, {'connected_gene': 'VANGL2', 'score': 13.77}, {'connected_gene': 'SLAMF6', 'score': 12.45}, {'connected_gene': 'ATP1A4', 'score': 11.73}, {'connected_gene': 'SLAMF1', 'score': 10.56}, {'connected_gene': 'LY9', 'score': 9.61}, {'connected_gene': 'CD48', 'score': 1.21}, {'connected_gene': 'LOC105371468', 'score': 0.29}]
chr1 GH01I160450 160450910 160451996 0.79 [{'connected_gene': 'SLAMF1', 'score': 12.39}, {'connected_gene': 'VANGL2', 'score': 10.88}, {'connected_gene': 'SLAMF6', 'score': 10.82}, {'connected_gene': 'LOC105371467', 'score': 0.39}]
chr1 GH01I160474 160474014 160475175 1 [{'connected_gene': 'SLAMF1', 'score': 10.98}, {'connected_gene': 'VANGL2', 'score': 1.42}, {'connected_gene': 'LOC105371467', 'score': 0.28}, {'connected_gene': 'SLAMF6', 'score': 0.25}]
chr1 GH01I160635 160635747 160648235 1.95 [{'connected_gene': 'SLAMF1', 'score': 556.39}, {'connected_gene': 'ENSG00000228863', 'score': 11.48}, {'connected_gene': 'RPL27AP2', 'score': 5.66}, {'connected_gene': 'SETP9', 'score': 5.43}, {'connected_gene': 'PPOX', 'score': 4.52}, {'connected_gene': 'SLAMF6', 'score': 3.35}, {'connected_gene': 'CD48', 'score': 1.77}, {'connected_gene': 'CD84', 'score': 0.21}]
chr1 GH01I160469 160469215 160473099 0.52 [{'connected_gene': 'SLAMF1', 'score': 10.98}, {'connected_gene': 'LOC105371467', 'score': 0.29}, {'connected_gene': 'SLAMF6', 'score': 0.23}]
chr1 GH01I160513 160513090 160515674 0.31 [{'connected_gene': 'VANGL2', 'score': 17.37}, {'connected_gene': 'CD84', 'score': 16.21}, {'connected_gene': 'SLAMF1', 'score': 10.19}, {'connected_gene': 'RNU4-42P', 'score': 9.85}, {'connected_gene': 'ENSG00000228863', 'score': 9.63}, {'connected_gene': 'SLAMF6', 'score': 0.44}, {'connected_gene': 'LOC105371467', 'score': 0.18}]
chr1 GH01I160605 160605762 160608846 1.28 [{'connected_gene': 'VANGL2', 'score': 24.21}, {'connected_gene': 'CD84', 'score': 17.02}, {'connected_gene': 'ENSG00000228863', 'score': 11.07}, {'connected_gene': 'SLAMF6', 'score': 11.05}, {'connected_gene': 'SLAMF1', 'score': 11.01}, {'connected_gene': 'RNU4-42P', 'score': 10.1}, {'connected_gene': 'LOC646347', 'score': 5.08}]
chr1 GH01I160427 160427664 160433616 1.56 [{'connected_gene': 'VANGL2', 'score': 19.0}, {'connected_gene': 'SLAMF7', 'score': 14.64}, {'connected_gene': 'SLAMF1', 'score': 11.24}, {'connected_gene': 'NCSTN', 'score': 10.85}, {'connected_gene': 'ENSG00000228863', 'score': 10.59}, {'connected_gene': 'NHLH1', 'score': 10.21}, {'connected_gene': 'ITLN1', 'score': 9.33}, {'connected_gene': 'CD48', 'score': 8.97}, {'connected_gene': 'CD244', 'score': 5.28}, {'connected_gene': 'LY9', 'score': 3.49}, {'connected_gene': 'SLAMF9', 'score': 3.3}, {'connected_gene': 'SLAMF6', 'score': 1.64}, {'connected_gene': 'LOC105371467', 'score': 0.44}, {'connected_gene': 'LOC105371466', 'score': 0.34}]
chr1 GH01I160621 160621656 160635584 1.56 [{'connected_gene': 'VANGL2', 'score': 21.88}, {'connected_gene': 'ENSG00000228863', 'score': 11.43}, {'connected_gene': 'COPA', 'score': 10.72}, {'connected_gene': 'NCSTN', 'score': 10.72}, {'connected_gene': 'SLAMF7', 'score': 10.05}, {'connected_gene': 'NHLH1', 'score': 9.91}, {'connected_gene': 'RNU4-42P', 'score': 9.76}, {'connected_gene': 'ITLN1', 'score': 9.23}, {'connected_gene': 'SLAMF6', 'score': 8.45}, {'connected_gene': 'SLAMF1', 'score': 5.5}, {'connected_gene': 'TSTD1', 'score': 5.17}, {'connected_gene': 'LY9', 'score': 4.28}, {'connected_gene': 'CD48', 'score': 2.95}, {'connected_gene': 'ARHGAP30', 'score': 2.47}, {'connected_gene': 'USF1', 'score': 1.3}, {'connected_gene': 'CD84', 'score': 0.25}]
chr1 GH01I160571 160571560 160572554 0.2 [{'connected_gene': 'VANGL2', 'score': 10.35}, {'connected_gene': 'SLAMF6', 'score': 10.28}, {'connected_gene': 'CD84', 'score': 0.44}, {'connected_gene': 'LOC105371468', 'score': 0.28}]
chr1 GH01I160558 160558601 160560516 1.15 [{'connected_gene': 'VANGL2', 'score': 24.81}, {'connected_gene': 'SLAMF6', 'score': 10.9}, {'connected_gene': 'SLAMF1', 'score': 10.1}, {'connected_gene': 'LY9', 'score': 9.33}, {'connected_gene': 'CD84', 'score': 0.37}, {'connected_gene': 'LOC105371468', 'score': 0.34}]
chr1 GH01I160453 160453102 160453914 0.83 [{'connected_gene': 'VANGL2', 'score': 10.88}, {'connected_gene': 'SLAMF6', 'score': 10.83}, {'connected_gene': 'SLAMF1', 'score': 9.87}, {'connected_gene': 'LOC105371467', 'score': 0.37}]
chr1 GH01I160570 160570661 160571529 0.89 [{'connected_gene': 'VANGL2', 'score': 10.92}, {'connected_gene': 'SLAMF6', 'score': 10.28}, {'connected_gene': 'LOC646347', 'score': 5.71}, {'connected_gene': 'CD84', 'score': 0.44}, {'connected_gene': 'LOC105371468', 'score': 0.29}]
chr1 GH01I160511 160511509 160513027 0.2 [{'connected_gene': 'VANGL2', 'score': 15.43}, {'connected_gene': 'ENSG00000228863', 'score': 9.63}, {'connected_gene': 'SLAMF6', 'score': 0.39}, {'connected_gene': 'LOC105371467', 'score': 0.19}]
chr1 GH01I160546 160546292 160550750 1.37 [{'connected_gene': 'VANGL2', 'score': 17.2}, {'connected_gene': 'LOC100287049', 'score': 12.4}, {'connected_gene': 'USP21', 'score': 12.06}, {'connected_gene': 'SLAMF6', 'score': 11.25}, {'connected_gene': 'SLAMF1', 'score': 10.67}, {'connected_gene': 'ENSG00000228863', 'score': 9.93}, {'connected_gene': 'RNU4-42P', 'score': 9.89}, {'connected_gene': 'DCAF8', 'score': 9.82}, {'connected_gene': 'PPOX', 'score': 9.74}, {'connected_gene': 'CD84', 'score': 5.93}, {'connected_gene': 'LOC105371468', 'score': 0.39}]
chr1 GH01I160835 160835539 160840272 1.44 [{'connected_gene': 'CD244', 'score': 24.31}, {'connected_gene': 'ITLN1', 'score': 11.79}, {'connected_gene': 'ENSG00000228863', 'score': 9.79}, {'connected_gene': 'SLAMF1', 'score': 9.65}, {'connected_gene': 'TSTD1', 'score': 5.78}, {'connected_gene': 'ARHGAP30', 'score': 2.76}, {'connected_gene': 'SLAMF6', 'score': 2.38}, {'connected_gene': 'USF1', 'score': 1.76}, {'connected_gene': 'CD48', 'score': 1.51}, {'connected_gene': 'LY9', 'score': 1.39}, {'connected_gene': 'PPIAP37', 'score': 0.39}, {'connected_gene': 'PIR60624', 'score': 0.39}]
chr1 GH01I160443 160443938 160448372 0.68 [{'connected_gene': 'NHLH1', 'score': 10.54}, {'connected_gene': 'RNU4-42P', 'score': 10.42}, {'connected_gene': 'SLAMF1', 'score': 10.29}, {'connected_gene': 'SLAMF6', 'score': 10.24}, {'connected_gene': 'ENSG00000228863', 'score': 9.68}, {'connected_gene': 'ITLN1', 'score': 9.38}, {'connected_gene': 'NCSTN', 'score': 7.78}, {'connected_gene': 'VANGL2', 'score': 7.61}, {'connected_gene': 'LOC105371467', 'score': 0.44}]
chr1 GH01I160794 160794779 160801600 1.98 [{'connected_gene': 'LY9', 'score': 577.17}, {'connected_gene': 'SLAMF7', 'score': 10.84}, {'connected_gene': 'ENSG00000228863', 'score': 10.34}, {'connected_gene': 'ITLN1', 'score': 10.22}, {'connected_gene': 'SLAMF1', 'score': 9.67}, {'connected_gene': 'CD244', 'score': 5.47}, {'connected_gene': 'ATP1A4', 'score': 4.44}, {'connected_gene': 'SLAMF6', 'score': 3.97}, {'connected_gene': 'CD48', 'score': 2.64}, {'connected_gene': 'USF1', 'score': 1.99}, {'connected_gene': 'ARHGAP30', 'score': 1.73}, {'connected_gene': 'TSTD1', 'score': 1.54}, {'connected_gene': 'PPOX', 'score': 1.39}, {'connected_gene': 'PIR60624', 'score': 0.31}]
chr1 GH01I160821 160821149 160821344 0.36 [{'connected_gene': 'LY9', 'score': 9.74}, {'connected_gene': 'CD244', 'score': 3.82}, {'connected_gene': 'ARHGAP30', 'score': 2.85}, {'connected_gene': 'USF1', 'score': 2.72}, {'connected_gene': 'CD48', 'score': 2.45}, {'connected_gene': 'SLAMF6', 'score': 1.85}, {'connected_gene': 'PIR60624', 'score': 0.77}]
chr1 GH01I161096 161096224 161099132 2.12 [{'connected_gene': 'KLHDC9', 'score': 567.8}, {'connected_gene': 'USP21', 'score': 157.92}, {'connected_gene': 'DUSP12', 'score': 145.37}, {'connected_gene': 'PPOX', 'score': 88.24}, {'connected_gene': 'LOC100287049', 'score': 78.15}, {'connected_gene': 'DEDD', 'score': 68.19}, {'connected_gene': 'NCSTN', 'score': 52.13}, {'connected_gene': 'RPSAP18', 'score': 45.98}, {'connected_gene': 'LOC148430', 'score': 39.75}, {'connected_gene': 'DCAF8', 'score': 38.23}, {'connected_gene': 'B4GALT3', 'score': 36.38}, {'connected_gene': 'ATF6', 'score': 32.82}, {'connected_gene': 'COPA', 'score': 27.97}, {'connected_gene': 'LOC729867', 'score': 13.88}, {'connected_gene': 'LY9', 'score': 10.47}, {'connected_gene': 'SLAMF6', 'score': 10.28}, {'connected_gene': 'FCER1G', 'score': 7.13}, {'connected_gene': 'NDUFS2', 'score': 6.32}, {'connected_gene': 'NIT1', 'score': 5.5}, {'connected_gene': 'NECTIN4', 'score': 0.44}]
chr1 GH01I160232 160232945 160233191 0.42 [{'connected_gene': 'SLAMF6', 'score': 3.69}, {'connected_gene': 'CD48', 'score': 3.34}, {'connected_gene': 'FCRL6', 'score': 3.34}, {'connected_gene': 'DCAF8', 'score': 1.69}, {'connected_gene': 'PIR40871', 'score': 0.37}, {'connected_gene': 'GC01P160261', 'score': 0.31}, {'connected_gene': 'ENSG00000258465', 'score': 0.23}]
chr1 GH01I160552 160552351 160552500 0.49 [{'connected_gene': 'SLAMF6', 'score': 11.12}, {'connected_gene': 'SLAMF1', 'score': 9.93}, {'connected_gene': 'RNU4-42P', 'score': 9.89}, {'connected_gene': 'ENSG00000228863', 'score': 9.87}, {'connected_gene': 'LOC105371468', 'score': 0.37}, {'connected_gene': 'CD84', 'score': 0.31}]
chr1 GH01I160462 160462333 160464161 0.2 [{'connected_gene': 'SLAMF6', 'score': 10.55}, {'connected_gene': 'SLAMF1', 'score': 9.95}, {'connected_gene': 'LOC105371467', 'score': 0.31}]
chr1 GH01I160459 160459803 160461487 0.84 [{'connected_gene': 'SLAMF6', 'score': 10.55}, {'connected_gene': 'SLAMF1', 'score': 9.95}, {'connected_gene': 'LOC105371467', 'score': 0.34}]
chr1 GH01I160518 160518929 160523660 2.02 [{'connected_gene': 'SLAMF6', 'score': 553.83}, {'connected_gene': 'VANGL2', 'score': 16.11}, {'connected_gene': 'CD84', 'score': 4.99}, {'connected_gene': 'SLAMF1', 'score': 3.7}, {'connected_gene': 'LOC105371467', 'score': 0.18}]
chr1 GH01I160560 160560947 160561073 0.45 [{'connected_gene': 'SLAMF6', 'score': 16.88}, {'connected_gene': 'VANGL2', 'score': 10.18}, {'connected_gene': 'SLAMF1', 'score': 9.55}, {'connected_gene': 'LY9', 'score': 2.94}, {'connected_gene': 'CD48', 'score': 2.12}, {'connected_gene': 'CD84', 'score': 0.37}, {'connected_gene': 'LOC105371468', 'score': 0.34}]
chr1 GH01I160487 160487260 160490731 0.8 [{'connected_gene': 'SLAMF6', 'score': 11.27}, {'connected_gene': 'LOC105371467', 'score': 0.23}]
chr1 GH01I160486 160486357 160486866 0.51 [{'connected_gene': 'SLAMF6', 'score': 10.86}, {'connected_gene': 'ENSG00000228863', 'score': 9.19}, {'connected_gene': 'LOC105371467', 'score': 0.25}]
chr1 GH01I160491 160491047 160493046 0.51 [{'connected_gene': 'SLAMF6', 'score': 11.27}, {'connected_gene': 'LOC105371467', 'score': 0.23}]
chr1 GH01I160483 160483315 160484019 0.2 [{'connected_gene': 'SLAMF6', 'score': 0.28}, {'connected_gene': 'LOC105371467', 'score': 0.25}]
chr1 GH01I160499 160499486 160500764 0.2 [{'connected_gene': 'SLAMF6', 'score': 0.34}, {'connected_gene': 'LOC105371467', 'score': 0.21}]
chr1 GH01I160436 160436831 160439291 1.33 [{'connected_gene': 'LOC105371467', 'score': 550.77}, {'connected_gene': 'SLAMF6', 'score': 14.65}, {'connected_gene': 'USP21', 'score': 12.78}, {'connected_gene': 'SLAMF1', 'score': 11.42}, {'connected_gene': 'PPOX', 'score': 11.03}, {'connected_gene': 'CD84', 'score': 10.73}, {'connected_gene': 'VANGL2', 'score': 10.62}, {'connected_gene': 'ENSG00000228863', 'score': 9.41}, {'connected_gene': 'ITLN1', 'score': 9.33}, {'connected_gene': 'LY9', 'score': 2.81}, {'connected_gene': 'CD48', 'score': 1.8}, {'connected_gene': 'DCAF8', 'score': 1.19}, {'connected_gene': 'LOC105371466', 'score': 0.31}]
chr1 GH01I160460 160459149 160459260 0.4 [{'connected_gene': 'LOC105371467', 'score': 0.34}, {'connected_gene': 'SLAMF6', 'score': 0.21}]

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