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
ENST00000534968 [[160510884, 160518111], [160519706, 160519769], [160520727, 160520825], [160523167, 160523287], [160523684, 160523936], [160549181, 160549306]] [[160518045, 160518111], [160519706, 160519769], [160520727, 160520825], [160523167, 160523287], [160523684, 160523936], [160549181, 160549227]]
ENST00000368054 [[160510887, 160518111], [160519706, 160519769], [160520727, 160520825], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549263]] [[160518045, 160518111], [160519706, 160519769], [160520727, 160520825], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549227]]
ENST00000466767 [[160517878, 160518111], [160519706, 160519769], [160520727, 160521200]] None
ENST00000311224 [[160518034, 160518111], [160519706, 160519769], [160520727, 160520825], [160522494, 160522527], [160523149, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549294]] [[160518045, 160518111], [160519706, 160519769], [160520727, 160520825], [160522494, 160522527], [160523149, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549227]]
ENST00000368048 [[160518034, 160518111], [160519706, 160519769], [160520727, 160520825], [160522494, 160522527], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549294]] [[160518045, 160518111], [160519706, 160519769], [160520727, 160520825], [160522494, 160522527], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549227]]
ENST00000368051 [[160518036, 160518111], [160519706, 160519769], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549294]] [[160519710, 160519769], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549227]]
ENST00000360056 [[160522696, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549294]] None
ENST00000368047 [[160523535, 160523936], [160535193, 160535535], [160549181, 160549294]] None
NM_001184879 [[160510883, 160518111], [160519706, 160519769], [160520727, 160520825], [160522494, 160522527], [160523149, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549306]] [[160518045, 160518111], [160519706, 160519769], [160520727, 160520825], [160522494, 160522527], [160523149, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549227]]
NM_001330742 [[160510883, 160518111], [160519706, 160519769], [160520727, 160520825], [160522494, 160522527], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549306]] [[160518045, 160518111], [160519706, 160519769], [160520727, 160520825], [160522494, 160522527], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549227]]
NM_003874 [[160510883, 160518111], [160519706, 160519769], [160520727, 160520825], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549306]] [[160518045, 160518111], [160519706, 160519769], [160520727, 160520825], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549227]]
NM_001184881 [[160510883, 160518111], [160519706, 160519769], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549306]] [[160519710, 160519769], [160523167, 160523287], [160523684, 160523936], [160535193, 160535535], [160549181, 160549227]]
NM_001184882 [[160510883, 160518111], [160519706, 160519769], [160520727, 160520825], [160523167, 160523287], [160523684, 160523936], [160549181, 160549306]] [[160518045, 160518111], [160519706, 160519769], [160520727, 160520825], [160523167, 160523287], [160523684, 160523936], [160549181, 160549227]]
Promoter
Chrom Start End Description
chr1 160549235 160549303 CAGE_peak_1_at_CD84_5end
chr1 160549325 160549334 CAGE_peak_2_at_CD84_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 GH01I160598 160598734 160598741 0.24 [{'connected_gene': 'CD84', 'score': 0.37}, {'connected_gene': 'SLAMF1', 'score': 0.25}]
chr1 GH01I160580 160580311 160580460 0.66 [{'connected_gene': 'CD84', 'score': 550.77}, {'connected_gene': 'SLAMF1', 'score': 0.2}]
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 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 GH01I160588 160588371 160589389 0.31 [{'connected_gene': 'SLAMF1', 'score': 10.21}, {'connected_gene': 'CD84', 'score': 5.66}]
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 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 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 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 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 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 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 GH01I161011 161011352 161023074 2.16 [{'connected_gene': 'DUSP12', 'score': 74.64}, {'connected_gene': 'USP21', 'score': 72.51}, {'connected_gene': 'LOC100287049', 'score': 65.99}, {'connected_gene': 'DEDD', 'score': 42.11}, {'connected_gene': 'PPOX', 'score': 41.65}, {'connected_gene': 'TSTD1', 'score': 33.18}, {'connected_gene': 'LOC148430', 'score': 32.97}, {'connected_gene': 'B4GALT3', 'score': 29.85}, {'connected_gene': 'ARHGAP30', 'score': 24.17}, {'connected_gene': 'KLHDC9', 'score': 22.28}, {'connected_gene': 'DCAF8', 'score': 20.08}, {'connected_gene': 'FCGR2A', 'score': 19.25}, {'connected_gene': 'USF1', 'score': 17.68}, {'connected_gene': 'RPSAP18', 'score': 16.18}, {'connected_gene': 'LOC105371471', 'score': 10.91}, {'connected_gene': 'NECTIN4', 'score': 10.9}, {'connected_gene': 'F11R', 'score': 10.52}, {'connected_gene': 'LY9', 'score': 9.87}, {'connected_gene': 'ITLN1', 'score': 9.71}, {'connected_gene': 'ENSG00000228863', 'score': 9.37}, {'connected_gene': 'ENSG00000232879', 'score': 7.77}, {'connected_gene': 'FCER1G', 'score': 6.31}, {'connected_gene': 'CD244', 'score': 4.98}, {'connected_gene': 'SLAMF7', 'score': 4.61}, {'connected_gene': 'CD48', 'score': 4.18}, {'connected_gene': 'ADAMTS4', 'score': 2.7}, {'connected_gene': 'NDUFS2', 'score': 1.4}, {'connected_gene': 'NR1I3', 'score': 1.24}, {'connected_gene': 'CD84', 'score': 1.13}, {'connected_gene': 'PIR46981', 'score': 0.37}, {'connected_gene': 'GC01M161000', 'score': 0.37}, {'connected_gene': 'ENSG00000270149', 'score': 0.34}]
chr1 GH01I160788 160788944 160791556 1.51 [{'connected_gene': 'LOC105371470', 'score': 550.77}, {'connected_gene': 'SLAMF7', 'score': 29.08}, {'connected_gene': 'ITLN1', 'score': 10.82}, {'connected_gene': 'ENSG00000228863', 'score': 10.41}, {'connected_gene': 'CD48', 'score': 9.02}, {'connected_gene': 'CD244', 'score': 7.73}, {'connected_gene': 'FCER1G', 'score': 7.52}, {'connected_gene': 'COPA', 'score': 5.15}, {'connected_gene': 'TSTD1', 'score': 4.71}, {'connected_gene': 'LY9', 'score': 3.53}, {'connected_gene': 'ARHGAP30', 'score': 1.87}, {'connected_gene': 'CD84', 'score': 1.68}]
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}]

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