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
ENST00000505013 [[140947567, 140947645], [140978964, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006227]] [[140979017, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006227]]
ENST00000514880 [[140950666, 140950753], [140978964, 140979096], [141006155, 141006295], [141011109, 141011379]] [[140979017, 140979096], [141006155, 141006157]]
ENST00000286353 [[140950669, 140950753], [140978964, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141013748]] [[140979017, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012047]]
ENST00000502783 [[140950681, 140950753], [140978964, 140979096], [140981084, 140981182], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012447]] [[140997218, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012047]]
ENST00000393010 [[140950702, 140950753], [140953057, 140953160], [140953727, 140953798], [140978964, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141013486]] [[140979017, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012047]]
ENST00000511968 [[140950708, 140950753], [140953057, 140953160], [140953727, 140954263]] None
ENST00000514680 [[140950717, 140950753], [140953057, 140953160], [140978964, 140979096], [140997183, 140997342], [140998219, 140998267]] [[140979017, 140979096], [140997183, 140997342], [140998219, 140998267]]
ENST00000513528 [[140950720, 140950753], [140951174, 140951277], [140953057, 140953160], [140953727, 140953798], [140978964, 140979096], [140981084, 140981182], [140997183, 140997342], [140998219, 140998317]] [[140979017, 140979096], [140981084, 140981086]]
ENST00000505502 [[140950723, 140950753], [140953057, 140953160], [140953727, 140953798], [140954239, 140954396], [140955113, 140955231]] None
ENST00000513007 [[140950755, 140950822], [140978964, 140979096], [140981084, 140981467]] None
ENST00000512457 [[140980847, 140980891], [140981084, 140981182], [140997183, 140997342], [140998219, 140998346], [141006155, 141006296]] [[140997218, 140997342], [140998219, 140998346], [141006155, 141006296]]
ENST00000504264 [[140981455, 140981565], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012346]] [[140981537, 140981565], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012047]]
ENST00000508812 [[140991506, 140993465], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012882]] [[140993413, 140993465], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012047]]
ENST00000393007 [[140993434, 140993465], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141013483]] [[140993434, 140993465], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012047]]
ENST00000514263 [[141006200, 141006295], [141010429, 141010574], [141011109, 141011158]] None
NM_001037172 [[140950666, 140950753], [140978964, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141013745]] [[140979017, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012047]]
NM_001282728 [[140950666, 140950753], [140978964, 140979096], [140981084, 140981182], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141013745]] [[140997218, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012047]]
NM_152282 [[140950666, 140950753], [140953057, 140953160], [140953727, 140953798], [140978964, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141013745]] [[140979017, 140979096], [140997183, 140997342], [140998219, 140998346], [141006155, 141006295], [141011109, 141012047]]
Promoter
Chrom Start End Description
chr3 140947563 140947577 CAGE_peak_14_at_ACPL2_5end
chr3 140950161 140950179 CAGE_peak_4_at_ACPL2_5end
chr3 140950191 140950210 CAGE_peak_2_at_ACPL2_5end
chr3 140950218 140950239 CAGE_peak_6_at_ACPL2_5end
chr3 140950612 140950736 CAGE_peak_1_at_ACPL2_5end
chr3 140950796 140950802 CAGE_peak_11_at_ACPL2_5end
chr3 140950813 140950820 CAGE_peak_8_at_ACPL2_5end
chr3 140980521 140980532 CAGE_peak_9_at_ACPL2_5end
chr3 140981491 140981508 CAGE_peak_3_at_ACPL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I141192 141192339 141192548 0.89 [{'connected_gene': 'PXYLP1', 'score': 24.78}, {'connected_gene': 'SPSB4', 'score': 10.89}, {'connected_gene': 'PIR61633', 'score': 0.34}, {'connected_gene': 'ENSG00000251270', 'score': 0.2}]
chr3 GH03I141265 141265925 141269115 0.92 [{'connected_gene': 'PXYLP1', 'score': 14.11}, {'connected_gene': 'RPL31P21', 'score': 0.44}, {'connected_gene': 'PIR50413', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.15}]
chr3 GH03I141269 141269728 141270614 0.38 [{'connected_gene': 'PXYLP1', 'score': 7.37}, {'connected_gene': 'PIR50413', 'score': 0.39}, {'connected_gene': 'RPL31P21', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.15}]
chr3 GH03I141279 141279308 141281416 0.77 [{'connected_gene': 'PXYLP1', 'score': 10.48}, {'connected_gene': 'PIR50413', 'score': 0.77}, {'connected_gene': 'RPL31P21', 'score': 0.34}, {'connected_gene': 'ENSG00000249417', 'score': 0.17}]
chr3 GH03I141262 141262420 141265036 0.38 [{'connected_gene': 'PXYLP1', 'score': 15.04}, {'connected_gene': 'RPL31P21', 'score': 0.44}, {'connected_gene': 'PIR50413', 'score': 0.34}]
chr3 GH03I141250 141250295 141253845 0.52 [{'connected_gene': 'PXYLP1', 'score': 14.32}, {'connected_gene': 'GC03P141249', 'score': 0.77}, {'connected_gene': 'RPL31P21', 'score': 0.44}]
chr3 GH03I141260 141260614 141261380 0.31 [{'connected_gene': 'PXYLP1', 'score': 14.09}, {'connected_gene': 'RPL31P21', 'score': 0.77}, {'connected_gene': 'PIR50413', 'score': 0.34}]
chr3 GH03I141261 141261495 141262406 0.38 [{'connected_gene': 'PXYLP1', 'score': 13.5}, {'connected_gene': 'RPL31P21', 'score': 0.77}, {'connected_gene': 'PIR50413', 'score': 0.34}]
chr3 GH03I141256 141255473 141256668 0.79 [{'connected_gene': 'PXYLP1', 'score': 12.28}, {'connected_gene': 'RPL31P21', 'score': 0.77}, {'connected_gene': 'GC03P141249', 'score': 0.44}]
chr3 GH03I141274 141274442 141276328 1.3 [{'connected_gene': 'PXYLP1', 'score': 14.33}, {'connected_gene': 'PIR50413', 'score': 0.44}, {'connected_gene': 'RPL31P21', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.16}]
chr3 GH03I141164 141164805 141165284 0.2 [{'connected_gene': 'PXYLP1', 'score': 7.73}, {'connected_gene': 'ENSG00000251270', 'score': 0.26}, {'connected_gene': 'PIR61633', 'score': 0.23}]
chr3 GH03I141230 141230728 141232801 2.12 [{'connected_gene': 'PXYLP1', 'score': 563.4}, {'connected_gene': 'GC03P141249', 'score': 0.37}]
chr3 GH03I141234 141234401 141234600 0.4 [{'connected_gene': 'PXYLP1', 'score': 11.19}, {'connected_gene': 'GC03P141249', 'score': 0.37}]
chr3 GH03I141245 141245421 141247434 0.54 [{'connected_gene': 'PXYLP1', 'score': 14.41}, {'connected_gene': 'GC03P141249', 'score': 0.77}]
chr3 GH03I141237 141237575 141238755 0.83 [{'connected_gene': 'PXYLP1', 'score': 15.08}, {'connected_gene': 'GC03P141249', 'score': 0.39}]
chr3 GH03I141243 141243019 141243761 1.18 [{'connected_gene': 'PXYLP1', 'score': 7.49}, {'connected_gene': 'GC03P141249', 'score': 0.44}]
chr3 GH03I141218 141218001 141218601 0.31 [{'connected_gene': 'PXYLP1', 'score': 15.21}, {'connected_gene': 'PIR61633', 'score': 0.77}]
chr3 GH03I141241 141241401 141242508 1.46 [{'connected_gene': 'PXYLP1', 'score': 563.09}, {'connected_gene': 'GC03P141249', 'score': 0.44}]
chr3 GH03I141240 141240401 141241001 0.83 [{'connected_gene': 'PXYLP1', 'score': 11.77}, {'connected_gene': 'GC03P141249', 'score': 0.44}]
chr3 GH03I141235 141235739 141236368 1.04 [{'connected_gene': 'PXYLP1', 'score': 0.44}, {'connected_gene': 'GC03P141249', 'score': 0.39}]
chr3 GH03I141322 141322935 141334724 1.7 [{'connected_gene': 'RASA2', 'score': 10.41}, {'connected_gene': 'ZBTB38', 'score': 0.77}, {'connected_gene': 'GC03P141334', 'score': 0.44}, {'connected_gene': 'ENSG00000249417', 'score': 0.28}, {'connected_gene': 'PXYLP1', 'score': 0.15}]
chr3 GH03I141320 141320831 141321875 0.43 [{'connected_gene': 'RASA2', 'score': 10.41}, {'connected_gene': 'ZBTB38', 'score': 0.77}, {'connected_gene': 'LOC100289442', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.25}, {'connected_gene': 'PXYLP1', 'score': 0.16}]
chr3 GH03I141310 141310801 141313764 1.5 [{'connected_gene': 'GK5', 'score': 19.91}, {'connected_gene': 'YWHAQP6', 'score': 10.61}, {'connected_gene': 'RASA2', 'score': 9.81}, {'connected_gene': 'LOC100289442', 'score': 0.77}, {'connected_gene': 'ZBTB38', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.23}, {'connected_gene': 'PXYLP1', 'score': 0.18}]
chr3 GH03I141302 141302106 141304000 1.05 [{'connected_gene': 'ZBTB38', 'score': 12.01}, {'connected_gene': 'PXYLP1', 'score': 11.17}, {'connected_gene': 'LOC100289442', 'score': 0.77}, {'connected_gene': 'PIR50413', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.21}]
chr3 GH03I141357 141357929 141359668 0.76 [{'connected_gene': 'ZBTB38', 'score': 17.38}, {'connected_gene': 'ENSG00000249417', 'score': 0.44}, {'connected_gene': 'GC03P141334', 'score': 0.34}, {'connected_gene': 'PXYLP1', 'score': 0.12}]
chr3 GH03I141350 141350230 141351321 0.31 [{'connected_gene': 'ZBTB38', 'score': 12.31}, {'connected_gene': 'GC03P141334', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.37}, {'connected_gene': 'PXYLP1', 'score': 0.13}]
chr3 GH03I141360 141360479 141362240 1.37 [{'connected_gene': 'ZBTB38', 'score': 11.72}, {'connected_gene': 'ENSG00000249417', 'score': 0.44}, {'connected_gene': 'GC03P141334', 'score': 0.31}, {'connected_gene': 'PXYLP1', 'score': 0.12}]
chr3 GH03I141351 141351849 141353121 0.73 [{'connected_gene': 'ZBTB38', 'score': 17.01}, {'connected_gene': 'ENSG00000249417', 'score': 0.39}, {'connected_gene': 'GC03P141334', 'score': 0.37}, {'connected_gene': 'PXYLP1', 'score': 0.13}]
chr3 GH03I141382 141382639 141390308 2.58 [{'connected_gene': 'ZBTB38', 'score': 569.71}, {'connected_gene': 'RASA2', 'score': 10.09}, {'connected_gene': 'PXYLP1', 'score': 5.37}, {'connected_gene': 'YWHAQP6', 'score': 4.16}, {'connected_gene': 'ENSG00000249417', 'score': 0.37}, {'connected_gene': 'KRT18P35', 'score': 0.17}]
chr3 GH03I141342 141342550 141348006 1.19 [{'connected_gene': 'ZBTB38', 'score': 17.41}, {'connected_gene': 'YWHAQP6', 'score': 4.37}, {'connected_gene': 'GC03P141334', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.34}, {'connected_gene': 'PXYLP1', 'score': 0.13}]
chr3 GH03I141353 141353819 141353968 0.79 [{'connected_gene': 'ZBTB38', 'score': 16.27}, {'connected_gene': 'YWHAQP6', 'score': 4.34}, {'connected_gene': 'ENSG00000249417', 'score': 0.39}, {'connected_gene': 'GC03P141334', 'score': 0.37}, {'connected_gene': 'PXYLP1', 'score': 0.13}]
chr3 GH03I141306 141306417 141308212 0.31 [{'connected_gene': 'LOC100289442', 'score': 550.77}, {'connected_gene': 'RASA2', 'score': 10.34}, {'connected_gene': 'PIR50413', 'score': 0.34}, {'connected_gene': 'ENSG00000249417', 'score': 0.22}, {'connected_gene': 'PXYLP1', 'score': 0.18}]
chr3 GH03I141308 141308601 141309000 1.14 [{'connected_gene': 'LOC100289442', 'score': 550.77}, {'connected_gene': 'RASA2', 'score': 10.34}, {'connected_gene': 'ZBTB38', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.22}, {'connected_gene': 'PXYLP1', 'score': 0.18}]
chr3 GH03I141259 141259824 141260045 0.51 [{'connected_gene': 'RPL31P21', 'score': 550.77}, {'connected_gene': 'PIR50413', 'score': 0.34}, {'connected_gene': 'PXYLP1', 'score': 0.29}]
chr3 GH03I141257 141257893 141258802 0.31 [{'connected_gene': 'RPL31P21', 'score': 550.77}, {'connected_gene': 'GC03P141249', 'score': 0.44}, {'connected_gene': 'PXYLP1', 'score': 0.31}]
chr3 GH03I141255 141255299 141255448 0.51 [{'connected_gene': 'RPL31P21', 'score': 0.77}, {'connected_gene': 'GC03P141249', 'score': 0.44}, {'connected_gene': 'PXYLP1', 'score': 0.31}]
chr3 GH03I141258 141258809 141259221 0.2 [{'connected_gene': 'RPL31P21', 'score': 550.77}, {'connected_gene': 'PXYLP1', 'score': 12.29}, {'connected_gene': 'PIR50413', 'score': 0.31}]
chr3 GH03I141248 141248790 141249674 0.31 [{'connected_gene': 'GC03P141249', 'score': 550.77}, {'connected_gene': 'PXYLP1', 'score': 6.69}]
chr3 GH03I141239 141239617 141240062 0.6 [{'connected_gene': 'GC03P141249', 'score': 0.44}, {'connected_gene': 'PXYLP1', 'score': 0.39}]
chr3 GH03I141364 141364394 141371477 1.81 [{'connected_gene': 'ENSG00000249417', 'score': 550.77}, {'connected_gene': 'RASA2', 'score': 32.75}, {'connected_gene': 'GK5', 'score': 20.8}, {'connected_gene': 'ZBTB38', 'score': 16.49}, {'connected_gene': 'YWHAQP6', 'score': 13.79}, {'connected_gene': 'KRT18P35', 'score': 0.15}, {'connected_gene': 'PXYLP1', 'score': 0.12}]
chr3 GH03I141335 141335329 141338307 1.52 [{'connected_gene': 'GC03P141334', 'score': 0.77}, {'connected_gene': 'ZBTB38', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.29}, {'connected_gene': 'PXYLP1', 'score': 0.14}]
chr3 GH03I141338 141338497 141339504 0.52 [{'connected_gene': 'GC03P141334', 'score': 0.77}, {'connected_gene': 'ZBTB38', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.31}, {'connected_gene': 'PXYLP1', 'score': 0.14}]
chr3 GH03I141291 141291650 141292991 0.57 [{'connected_gene': 'PIR50413', 'score': 0.44}, {'connected_gene': 'LOC100289442', 'score': 0.37}, {'connected_gene': 'PXYLP1', 'score': 0.21}, {'connected_gene': 'ENSG00000249417', 'score': 0.19}]
chr3 GH03I141293 141293717 141295668 1.06 [{'connected_gene': 'PIR50413', 'score': 0.39}, {'connected_gene': 'LOC100289442', 'score': 0.39}, {'connected_gene': 'PXYLP1', 'score': 0.2}, {'connected_gene': 'ENSG00000249417', 'score': 0.19}]

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