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
ENST00000478324 [[532241, 532630], [533276, 533358], [533452, 533612]] None
ENST00000397594 [[532241, 532755], [533276, 533358], [533452, 533612], [533765, 533944], [534211, 534375]] [[533295, 533358], [533452, 533612], [533765, 533944], [534211, 534322]]
ENST00000397596 [[532241, 532755], [533452, 533612], [533765, 533944], [534211, 534375], [535256, 535339]] [[532635, 532755], [533452, 533612], [533765, 533944], [534211, 534322]]
ENST00000493230 [[532241, 532522], [532630, 532755], [533276, 533358], [533452, 533612], [533765, 533944], [534211, 534375], [535415, 535538]] [[533295, 533358], [533452, 533612], [533765, 533944], [534211, 534322]]
ENST00000451590 [[532242, 532755], [533452, 533612], [533765, 533944], [534211, 534375], [535415, 535550]] [[532635, 532755], [533452, 533612], [533765, 533944], [534211, 534322]]
ENST00000417302 [[532242, 532755], [533276, 533358], [533452, 533612], [533765, 533944], [534211, 534375], [535415, 535550]] [[533295, 533358], [533452, 533612], [533765, 533944], [534211, 534322]]
ENST00000462734 [[532245, 532522], [532630, 532755], [533276, 533358], [533452, 533595]] None
ENST00000311189 [[532375, 532522], [532630, 532755], [533452, 533612], [533765, 533944], [534211, 534375], [535415, 535534]] [[532635, 532755], [533452, 533612], [533765, 533944], [534211, 534322]]
ENST00000479482 [[532641, 532755], [533452, 533612], [533765, 533976]] None
ENST00000468682 [[533794, 533944], [534211, 534375], [536852, 537287]] None
ENST00000482021 [[534278, 534375], [534517, 534587]] None
NM_176795 [[532241, 532755], [533276, 533358], [533452, 533612], [533765, 533944], [534211, 534375], [535415, 535567]] [[533295, 533358], [533452, 533612], [533765, 533944], [534211, 534322]]
NM_001318054 [[532241, 532522], [532630, 532755], [533276, 533358], [533452, 533612], [533765, 533944], [534211, 534375], [535415, 535567]] [[532635, 532755], [533276, 533358], [533452, 533583]]
NM_001130442 [[532241, 532755], [533452, 533612], [533765, 533944], [534211, 534375], [535415, 535567]] [[532635, 532755], [533452, 533612], [533765, 533944], [534211, 534322]]
NM_005343 [[532241, 532522], [532630, 532755], [533452, 533612], [533765, 533944], [534211, 534375], [535415, 535567]] [[532635, 532755], [533452, 533612], [533765, 533944], [534211, 534322]]
Promoter
Chrom Start End Description
chr11 535515 535592 CAGE_peak_1_at_HRAS_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I001436 1436287 1439027 0.67 [{'connected_gene': 'BRSK2', 'score': 5.33}, {'connected_gene': 'HRAS', 'score': 4.44}, {'connected_gene': 'GC11P001432', 'score': 0.77}, {'connected_gene': 'PIR62058', 'score': 0.44}]
chr11 GH11I000443 443626 451865 2.51 [{'connected_gene': 'PTDSS2', 'score': 563.3}, {'connected_gene': 'RNH1', 'score': 20.23}, {'connected_gene': 'LRRC56', 'score': 19.2}, {'connected_gene': 'TSPAN4', 'score': 19.17}, {'connected_gene': 'SNORA52', 'score': 16.77}, {'connected_gene': 'PHRF1', 'score': 14.42}, {'connected_gene': 'ENSG00000255237', 'score': 12.72}, {'connected_gene': 'ANO9', 'score': 12.14}, {'connected_gene': 'HRAS', 'score': 11.34}, {'connected_gene': 'BET1L', 'score': 10.84}, {'connected_gene': 'RIC8A', 'score': 10.84}, {'connected_gene': 'GC11M000452', 'score': 0.44}]
chr11 GH11I000554 554961 555201 1.48 [{'connected_gene': 'LOC692247', 'score': 6.58}, {'connected_gene': 'LMNTD2', 'score': 0.44}, {'connected_gene': 'HRAS', 'score': 0.37}]
chr11 GH11I000555 555245 555604 0.63 [{'connected_gene': 'LOC692247', 'score': 0.77}, {'connected_gene': 'LMNTD2', 'score': 0.44}, {'connected_gene': 'HRAS', 'score': 0.37}]
chr11 GH11I000702 702328 711838 2.37 [{'connected_gene': 'EPS8L2', 'score': 578.36}, {'connected_gene': 'LOC105376508', 'score': 550.77}, {'connected_gene': 'DEAF1', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 25.27}, {'connected_gene': 'PGGHG', 'score': 6.21}, {'connected_gene': 'HRAS', 'score': 4.42}, {'connected_gene': 'GC11P000712', 'score': 0.44}, {'connected_gene': 'ENSG00000269915', 'score': 0.37}]
chr11 GH11I000574 574925 581837 2.28 [{'connected_gene': 'PHRF1', 'score': 578.19}, {'connected_gene': 'TMEM80', 'score': 37.32}, {'connected_gene': 'SNORA52', 'score': 31.05}, {'connected_gene': 'ENSG00000255237', 'score': 28.45}, {'connected_gene': 'BET1L', 'score': 26.44}, {'connected_gene': 'TSPAN4', 'score': 22.62}, {'connected_gene': 'PSMD13', 'score': 14.53}, {'connected_gene': 'RIC8A', 'score': 14.07}, {'connected_gene': 'RPLP2', 'score': 9.93}, {'connected_gene': 'HRAS', 'score': 9.77}, {'connected_gene': 'LOC692247', 'score': 8.96}, {'connected_gene': 'IRF7', 'score': 7.84}, {'connected_gene': 'ENSG00000255158', 'score': 7.18}, {'connected_gene': 'PKP3', 'score': 6.25}, {'connected_gene': 'GC11P000582', 'score': 0.77}, {'connected_gene': 'LOC143666', 'score': 0.77}, {'connected_gene': 'PIR42218', 'score': 0.39}]
chr11 GH11I000611 611622 617009 2.1 [{'connected_gene': 'IRF7', 'score': 550.77}, {'connected_gene': 'HRAS', 'score': 12.04}, {'connected_gene': 'TMEM80', 'score': 11.82}, {'connected_gene': 'RNH1', 'score': 8.35}, {'connected_gene': 'LRRC56', 'score': 7.1}, {'connected_gene': 'GC11P000616', 'score': 0.77}, {'connected_gene': 'CDHR5', 'score': 0.39}, {'connected_gene': 'PIR42218', 'score': 0.34}, {'connected_gene': 'PHRF1', 'score': 0.28}]
chr11 GH11I000441 441452 442770 1.84 [{'connected_gene': 'ANO9', 'score': 550.77}, {'connected_gene': 'RN7SL838P', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 13.88}, {'connected_gene': 'HRAS', 'score': 12.47}, {'connected_gene': 'PTDSS2', 'score': 0.44}]
chr11 GH11I000544 544271 544757 0.31 [{'connected_gene': 'HRAS', 'score': 0.44}, {'connected_gene': 'LOC692247', 'score': 0.39}, {'connected_gene': 'LRRC56', 'score': 0.31}]
chr11 GH11I000541 541056 541921 0.43 [{'connected_gene': 'HRAS', 'score': 0.77}, {'connected_gene': 'LOC692247', 'score': 0.37}, {'connected_gene': 'LRRC56', 'score': 0.34}]
chr11 GH11I000468 468188 470722 1.59 [{'connected_gene': 'HRAS', 'score': 11.17}, {'connected_gene': 'CEND1', 'score': 2.36}, {'connected_gene': 'B4GALNT4', 'score': 2.12}, {'connected_gene': 'ENSG00000255237', 'score': 0.44}, {'connected_gene': 'PTDSS2', 'score': 0.34}, {'connected_gene': 'GC11P000498', 'score': 0.31}]
chr11 GH11I000539 539762 540337 0.38 [{'connected_gene': 'RNH1', 'score': 17.1}, {'connected_gene': 'HRAS', 'score': 15.93}, {'connected_gene': 'SIGIRR', 'score': 6.29}, {'connected_gene': 'LOC692247', 'score': 0.37}, {'connected_gene': 'LRRC56', 'score': 0.34}]
chr11 GH11I000532 532173 533117 0.2 [{'connected_gene': 'RNH1', 'score': 18.0}, {'connected_gene': 'TMEM80', 'score': 11.38}, {'connected_gene': 'HRAS', 'score': 0.77}, {'connected_gene': 'LOC101059906', 'score': 0.77}, {'connected_gene': 'LRRC56', 'score': 0.39}]
chr11 GH11I000657 657246 658592 0.72 [{'connected_gene': 'TMEM80', 'score': 56.58}, {'connected_gene': 'EPS8L2', 'score': 22.27}, {'connected_gene': 'DEAF1', 'score': 12.94}, {'connected_gene': 'CDHR5', 'score': 11.95}, {'connected_gene': 'IRF7', 'score': 11.92}, {'connected_gene': 'TALDO1', 'score': 11.84}, {'connected_gene': 'CEND1', 'score': 11.3}, {'connected_gene': 'SLC25A22', 'score': 11.29}, {'connected_gene': 'PIDD1', 'score': 11.29}, {'connected_gene': 'RPLP2', 'score': 11.29}, {'connected_gene': 'LOC171391', 'score': 11.18}, {'connected_gene': 'GATD1', 'score': 11.18}, {'connected_gene': 'ENSG00000255142', 'score': 11.17}, {'connected_gene': 'PTDSS2', 'score': 5.07}, {'connected_gene': 'HRAS', 'score': 4.98}, {'connected_gene': 'GC11P000654', 'score': 0.77}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11 GH11I000690 690739 699430 2.24 [{'connected_gene': 'TMEM80', 'score': 594.94}, {'connected_gene': 'EPS8L2', 'score': 566.31}, {'connected_gene': 'DEAF1', 'score': 550.39}, {'connected_gene': 'HRAS', 'score': 6.57}, {'connected_gene': 'DRD4', 'score': 5.41}, {'connected_gene': 'LOC105376508', 'score': 0.39}]
chr11 GH11I000559 559142 566688 2.21 [{'connected_gene': 'LMNTD2', 'score': 557.47}, {'connected_gene': 'RASSF7', 'score': 550.77}, {'connected_gene': 'GC11M000563', 'score': 550.77}, {'connected_gene': 'PHRF1', 'score': 15.36}, {'connected_gene': 'HRAS', 'score': 12.51}, {'connected_gene': 'TMEM80', 'score': 11.56}, {'connected_gene': 'PKP3', 'score': 5.27}, {'connected_gene': 'RNH1', 'score': 4.92}, {'connected_gene': 'PTDSS2', 'score': 4.43}, {'connected_gene': 'GC11M000576', 'score': 0.44}, {'connected_gene': 'GC11M000578', 'score': 0.44}, {'connected_gene': 'LOC692247', 'score': 0.44}, {'connected_gene': 'MIR210HG', 'score': 0.44}]
chr11 GH11I000636 636354 641884 1.36 [{'connected_gene': 'DRD4', 'score': 550.77}, {'connected_gene': 'GC11P000641', 'score': 550.77}, {'connected_gene': 'GC11P000637', 'score': 550.77}, {'connected_gene': 'GC11P000643', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 31.09}, {'connected_gene': 'PTDSS2', 'score': 8.68}, {'connected_gene': 'CDHR5', 'score': 7.31}, {'connected_gene': 'HRAS', 'score': 6.36}, {'connected_gene': 'LMNTD2', 'score': 5.48}, {'connected_gene': 'OR4F2P', 'score': 4.94}, {'connected_gene': 'LOC692247', 'score': 4.91}]
chr11 GH11I000534 534161 538417 2.22 [{'connected_gene': 'LRRC56', 'score': 568.29}, {'connected_gene': 'HRAS', 'score': 567.77}, {'connected_gene': 'TMEM80', 'score': 22.35}, {'connected_gene': 'RNH1', 'score': 16.6}, {'connected_gene': 'PIDD1', 'score': 12.84}, {'connected_gene': 'DRD4', 'score': 12.76}, {'connected_gene': 'PHRF1', 'score': 12.05}, {'connected_gene': 'GATD1', 'score': 10.81}, {'connected_gene': 'ENSG00000255142', 'score': 10.77}, {'connected_gene': 'ENSG00000255158', 'score': 10.3}, {'connected_gene': 'ENSG00000255237', 'score': 10.1}, {'connected_gene': 'LMNTD2', 'score': 7.0}, {'connected_gene': 'LOC101059906', 'score': 0.44}]
chr11 GH11I000531 531291 531780 0.38 [{'connected_gene': 'LRRC56', 'score': 18.5}, {'connected_gene': 'RNH1', 'score': 18.11}, {'connected_gene': 'TMEM80', 'score': 11.9}, {'connected_gene': 'LOC101059906', 'score': 0.77}, {'connected_gene': 'HRAS', 'score': 0.44}]
chr11 GH11I000514 514302 516144 0.58 [{'connected_gene': 'LOC105376507', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 18.43}, {'connected_gene': 'HRAS', 'score': 12.9}, {'connected_gene': 'LOC692247', 'score': 12.82}, {'connected_gene': 'RASSF7', 'score': 12.82}, {'connected_gene': 'LMNTD2', 'score': 12.81}, {'connected_gene': 'PTDSS2', 'score': 12.12}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'PIDD1', 'score': 11.01}, {'connected_gene': 'RPLP2', 'score': 11.01}, {'connected_gene': 'ENSG00000255158', 'score': 10.57}, {'connected_gene': 'DRD4', 'score': 8.86}, {'connected_gene': 'LRRC56', 'score': 0.77}, {'connected_gene': 'GC11P000507', 'score': 0.44}]
chr11 GH11I000528 528144 529768 0.74 [{'connected_gene': 'LOC101059906', 'score': 550.77}, {'connected_gene': 'LRRC56', 'score': 16.0}, {'connected_gene': 'HRAS', 'score': 14.82}]
chr11 GH11I000571 571085 571861 0.57 [{'connected_gene': 'GC11M000578', 'score': 550.77}, {'connected_gene': 'GC11M000572', 'score': 550.77}, {'connected_gene': 'HRAS', 'score': 12.22}, {'connected_gene': 'TMEM80', 'score': 10.59}, {'connected_gene': 'PHRF1', 'score': 6.27}, {'connected_gene': 'RNH1', 'score': 5.06}]
chr11 GH11I000665 665103 666601 0.89 [{'connected_gene': 'ENSG00000255158', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 23.89}, {'connected_gene': 'PHRF1', 'score': 8.39}, {'connected_gene': 'HRAS', 'score': 5.2}, {'connected_gene': 'GC11P000663', 'score': 0.77}, {'connected_gene': 'DEAF1', 'score': 0.26}]
chr11 GH11I000566 566841 570090 1.43 [{'connected_gene': 'GC11M000576', 'score': 550.77}, {'connected_gene': 'GC11M000572', 'score': 550.77}, {'connected_gene': 'GC11M000569', 'score': 550.77}, {'connected_gene': 'MIR210HG', 'score': 550.77}, {'connected_gene': 'MIR210', 'score': 550.77}, {'connected_gene': 'HRAS', 'score': 12.63}, {'connected_gene': 'TMEM80', 'score': 11.72}, {'connected_gene': 'LRRC56', 'score': 6.2}, {'connected_gene': 'PHRF1', 'score': 5.47}, {'connected_gene': 'ENSG00000270105', 'score': 4.69}, {'connected_gene': 'GC11M000578', 'score': 0.77}]

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