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
ENST00000368061 [[160370375, 160370659], [160385437, 160385698], [160385851, 160385972], [160388791, 160389399], [160390200, 160390337], [160390841, 160390977], [160393841, 160394073], [160394907, 160398468]] [[160385627, 160385698], [160385851, 160385972], [160388791, 160389399], [160390200, 160390337], [160390841, 160390977], [160393841, 160394073], [160394907, 160395168]]
ENST00000483408 [[160389282, 160389399], [160390841, 160390977], [160393841, 160393937]] None
NM_020335 [[160370363, 160370659], [160385437, 160385698], [160385851, 160385972], [160388791, 160389399], [160390200, 160390337], [160390841, 160390977], [160393841, 160394073], [160394907, 160398468]] [[160385627, 160385698], [160385851, 160385972], [160388791, 160389399], [160390200, 160390337], [160390841, 160390977], [160393841, 160394073], [160394907, 160395168]]
Promoter
Chrom Start End Description
chr1 160370344 160370406 CAGE_peak_1_at_VANGL2_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 GH01I160610 160610791 160610940 0.4 [{'connected_gene': 'CD84', 'score': 11.49}, {'connected_gene': 'ENSG00000228863', 'score': 11.08}, {'connected_gene': 'SLAMF1', 'score': 11.03}, {'connected_gene': 'VANGL2', 'score': 10.65}]
chr1 GH01I160609 160609351 160609500 0.51 [{'connected_gene': 'CD84', 'score': 11.51}, {'connected_gene': 'ENSG00000228863', 'score': 11.07}, {'connected_gene': 'SLAMF1', 'score': 11.03}, {'connected_gene': 'VANGL2', 'score': 10.66}]
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 GH01I160402 160402601 160402800 0.31 [{'connected_gene': 'SLAMF1', 'score': 9.77}, {'connected_gene': 'IGSF8', 'score': 9.57}, {'connected_gene': 'VANGL2', 'score': 0.77}, {'connected_gene': 'LOC105371466', 'score': 0.44}]
chr1 GH01I160618 160618851 160619000 0.86 [{'connected_gene': 'SLAMF1', 'score': 11.4}, {'connected_gene': 'CD84', 'score': 11.31}, {'connected_gene': 'VANGL2', 'score': 11.28}, {'connected_gene': 'ENSG00000228863', 'score': 10.75}, {'connected_gene': 'LY9', 'score': 10.53}, {'connected_gene': 'RNU4-42P', 'score': 10.46}, {'connected_gene': 'SLAMF7', 'score': 10.19}, {'connected_gene': 'ITLN1', 'score': 9.17}]
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 GH01I159936 159936201 159946713 2.66 [{'connected_gene': 'IGSF9', 'score': 559.99}, {'connected_gene': 'ATP1A4', 'score': 51.6}, {'connected_gene': 'KCNJ10', 'score': 12.41}, {'connected_gene': 'NHLH1', 'score': 6.2}, {'connected_gene': 'LINC01133', 'score': 6.08}, {'connected_gene': 'VSIG8', 'score': 5.95}, {'connected_gene': 'CFAP45', 'score': 4.42}, {'connected_gene': 'VANGL2', 'score': 2.07}, {'connected_gene': 'TAGLN2', 'score': 0.37}]
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 GH01I160581 160580919 160582740 0.69 [{'connected_gene': 'VANGL2', 'score': 7.8}, {'connected_gene': 'CD84', 'score': 6.43}, {'connected_gene': 'SLAMF1', 'score': 0.2}]
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 GH01I160615 160615475 160616483 0.2 [{'connected_gene': 'VANGL2', 'score': 24.63}, {'connected_gene': 'SLAMF1', 'score': 11.38}, {'connected_gene': 'CD84', 'score': 11.31}, {'connected_gene': 'ENSG00000228863', 'score': 10.75}, {'connected_gene': 'LY9', 'score': 10.52}, {'connected_gene': 'RNU4-42P', 'score': 10.46}, {'connected_gene': 'SLAMF7', 'score': 10.19}, {'connected_gene': 'ITLN1', 'score': 9.17}]
chr1 GH01I160612 160612067 160613713 0.38 [{'connected_gene': 'VANGL2', 'score': 25.11}, {'connected_gene': 'SLAMF1', 'score': 11.38}, {'connected_gene': 'CD84', 'score': 11.33}, {'connected_gene': 'ENSG00000228863', 'score': 10.73}, {'connected_gene': 'LY9', 'score': 10.52}, {'connected_gene': 'RNU4-42P', 'score': 10.46}, {'connected_gene': 'SLAMF7', 'score': 10.19}, {'connected_gene': 'ITLN1', 'score': 9.16}]
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 GH01I160399 160399428 160401986 1.96 [{'connected_gene': 'VANGL2', 'score': 550.77}, {'connected_gene': 'NCSTN', 'score': 12.17}, {'connected_gene': 'LOC105371466', 'score': 0.44}]
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 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 GH01I160361 160361732 160363412 1.38 [{'connected_gene': 'NCSTN', 'score': 21.08}, {'connected_gene': 'VANGL2', 'score': 4.39}, {'connected_gene': 'NHLH1', 'score': 4.38}, {'connected_gene': 'IGSF9', 'score': 1.22}, {'connected_gene': 'SLAMF7', 'score': 1.15}, {'connected_gene': 'GC01P160354', 'score': 0.44}, {'connected_gene': 'RNU4-42P', 'score': 0.29}]
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 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 GH01I160426 160426469 160427542 0.38 [{'connected_gene': 'LOC105371467', 'score': 0.39}, {'connected_gene': 'LOC105371466', 'score': 0.37}, {'connected_gene': 'VANGL2', 'score': 0.31}]
chr1 GH01I160407 160407452 160411762 1.04 [{'connected_gene': 'LOC105371466', 'score': 550.77}, {'connected_gene': 'NCSTN', 'score': 14.19}, {'connected_gene': 'LOC729867', 'score': 13.94}, {'connected_gene': 'LOC148430', 'score': 12.67}, {'connected_gene': 'COPA', 'score': 9.42}, {'connected_gene': 'VANGL2', 'score': 6.94}, {'connected_gene': 'IGSF9', 'score': 4.1}, {'connected_gene': 'LOC105371467', 'score': 0.31}]

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