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
ENST00000536441 [[94898703, 94906505], [94908661, 94908806], [94910882, 94911073], [94911873, 94911992], [94917583, 94917758], [94918419, 94918656], [94922942, 94923125], [94924567, 94924765], [94926620, 94926686], [94963946, 94964361]] [[94906418, 94906505], [94908661, 94908806], [94910882, 94911073], [94911873, 94911992], [94917583, 94917758], [94918419, 94918656], [94922942, 94923125], [94924567, 94924765], [94926620, 94926686], [94963946, 94964024]]
ENST00000278499 [[94906311, 94906505], [94908661, 94908806], [94910882, 94911073], [94911873, 94911992], [94917583, 94917758], [94918419, 94918656], [94924567, 94924765], [94926620, 94926686], [94965320, 94965705]] [[94906418, 94906505], [94908661, 94908806], [94910882, 94911073], [94911873, 94911992], [94917583, 94917758], [94918419, 94918656], [94924567, 94924675]]
ENST00000393234 [[94915321, 94915338], [94917583, 94917758], [94918419, 94918656], [94922942, 94923125], [94924567, 94924765], [94926620, 94926686], [94963946, 94964246]] [[94915321, 94915338], [94917583, 94917758], [94918419, 94918656], [94922942, 94923125], [94924567, 94924765], [94926620, 94926686], [94963946, 94964024]]
ENST00000416495 [[94917298, 94917758], [94918419, 94918656], [94922942, 94923125], [94924567, 94924765], [94926620, 94926686], [94963946, 94964210]] [[94917554, 94917758], [94918419, 94918656], [94922942, 94923125], [94924567, 94924765], [94926620, 94926686], [94963946, 94964024]]
ENST00000542176 [[94924628, 94924765], [94926620, 94926686], [94957615, 94957648], [94965320, 94965691]] [[94924628, 94924765], [94926620, 94926686], [94957615, 94957624]]
ENST00000537480 [[94924728, 94924765], [94926620, 94926686], [94934400, 94934519], [94965320, 94965639]] None
NM_144665 [[94898676, 94906505], [94908661, 94908806], [94910882, 94911073], [94911873, 94911992], [94917583, 94917758], [94918419, 94918656], [94922942, 94923125], [94924567, 94924765], [94926620, 94926686], [94963946, 94964246]] [[94906418, 94906505], [94908661, 94908806], [94910882, 94911073], [94911873, 94911992], [94917583, 94917758], [94918419, 94918656], [94922942, 94923125], [94924567, 94924765], [94926620, 94926686], [94963946, 94964024]]
NM_001271594 [[94898676, 94906505], [94908661, 94908806], [94910882, 94911073], [94911873, 94911992], [94917583, 94917758], [94918419, 94918656], [94924567, 94924765], [94926620, 94926686], [94965320, 94965705]] [[94906418, 94906505], [94908661, 94908806], [94910882, 94911073], [94911873, 94911992], [94917583, 94917758], [94918419, 94918656], [94924567, 94924675]]
Promoter
Chrom Start End Description
chr11 94964187 94964194 CAGE_peak_9_at_SESN3_5end
chr11 94964212 94964285 CAGE_peak_2_at_SESN3_5end
chr11 94964354 94964374 CAGE_peak_1_at_SESN3_5end
chr11 94964565 94964589 CAGE_peak_3_at_SESN3_5end
chr11 94964608 94964618 CAGE_peak_8_at_SESN3_5end
chr11 94965626 94965651 CAGE_peak_5_at_SESN3_5end
chr11 94965667 94965696 CAGE_peak_6_at_SESN3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I095720 95720151 95720863 0.31 [{'connected_gene': 'CEP57', 'score': 11.2}, {'connected_gene': 'LOC101929295', 'score': 10.62}, {'connected_gene': 'SESN3', 'score': 10.43}, {'connected_gene': 'GC11M095720', 'score': 0.44}, {'connected_gene': 'ENSG00000255605', 'score': 0.34}]
chr11 GH11I095364 95364321 95364906 0.8 [{'connected_gene': 'MRE11', 'score': 19.19}, {'connected_gene': 'ANKRD49', 'score': 14.5}, {'connected_gene': 'FAM76B', 'score': 14.26}, {'connected_gene': 'SESN3', 'score': 10.29}, {'connected_gene': 'MAML2', 'score': 10.28}, {'connected_gene': 'LOC101929295', 'score': 10.25}, {'connected_gene': 'FUT4', 'score': 10.1}, {'connected_gene': 'GC11M095337', 'score': 0.31}, {'connected_gene': 'LOC105369439', 'score': 0.15}]
chr11 GH11I095156 95156263 95158392 0.54 [{'connected_gene': 'ENDOD1', 'score': 18.82}, {'connected_gene': 'CEP57', 'score': 11.02}, {'connected_gene': 'FAM76B', 'score': 11.02}, {'connected_gene': 'SESN3', 'score': 9.74}, {'connected_gene': 'GC11M095158', 'score': 0.77}, {'connected_gene': 'LOC101929295', 'score': 0.44}]
chr11 GH11I095252 95252327 95257755 1.55 [{'connected_gene': 'SESN3', 'score': 12.14}, {'connected_gene': 'LOC101929295', 'score': 11.94}, {'connected_gene': 'ENDOD1', 'score': 4.96}, {'connected_gene': 'GC11M095260', 'score': 0.44}, {'connected_gene': 'GC11M095250', 'score': 0.18}]
chr11 GH11I095520 95520349 95521944 0.87 [{'connected_gene': 'SESN3', 'score': 9.91}, {'connected_gene': 'LOC101929295', 'score': 9.9}, {'connected_gene': 'GC11M095524', 'score': 0.77}, {'connected_gene': 'LOC105369440', 'score': 0.77}, {'connected_gene': 'GC11P095515', 'score': 0.44}]
chr11 GH11I095365 95365001 95365739 0.97 [{'connected_gene': 'SESN3', 'score': 10.29}, {'connected_gene': 'LOC101929295', 'score': 10.25}, {'connected_gene': 'GC11M095337', 'score': 0.31}, {'connected_gene': 'LOC105369439', 'score': 0.15}]
chr11 GH11I095375 95375997 95376166 0.2 [{'connected_gene': 'SESN3', 'score': 11.11}, {'connected_gene': 'LOC101929295', 'score': 11.07}, {'connected_gene': 'GC11M095337', 'score': 0.28}, {'connected_gene': 'LOC105369439', 'score': 0.16}]
chr11 GH11I095363 95363801 95364000 0.74 [{'connected_gene': 'SESN3', 'score': 10.29}, {'connected_gene': 'LOC101929295', 'score': 10.25}, {'connected_gene': 'GC11M095337', 'score': 0.31}, {'connected_gene': 'LOC105369439', 'score': 0.15}]
chr11 GH11I095344 95344873 95346148 0.43 [{'connected_gene': 'SESN3', 'score': 10.97}, {'connected_gene': 'LOC101929295', 'score': 10.92}, {'connected_gene': 'GC11M095337', 'score': 0.44}, {'connected_gene': 'LOC105369439', 'score': 0.13}]
chr11 GH11I095378 95378775 95379626 0.38 [{'connected_gene': 'SESN3', 'score': 11.18}, {'connected_gene': 'LOC101929295', 'score': 11.14}, {'connected_gene': 'GC11M095337', 'score': 0.26}, {'connected_gene': 'LOC105369439', 'score': 0.17}]
chr11 GH11I095357 95357965 95360706 0.94 [{'connected_gene': 'SESN3', 'score': 10.99}, {'connected_gene': 'LOC101929295', 'score': 10.94}, {'connected_gene': 'GC11M095337', 'score': 0.34}, {'connected_gene': 'LOC105369439', 'score': 0.14}]
chr11 GH11I095386 95386672 95388389 0.49 [{'connected_gene': 'SESN3', 'score': 10.61}, {'connected_gene': 'LOC101929295', 'score': 10.57}, {'connected_gene': 'GC11M095337', 'score': 0.25}, {'connected_gene': 'LOC105369439', 'score': 0.18}]
chr11 GH11I095203 95203942 95204001 0.61 [{'connected_gene': 'SESN3', 'score': 561.21}, {'connected_gene': 'ENSG00000282834', 'score': 550.77}, {'connected_gene': 'LOC101929295', 'score': 11.13}, {'connected_gene': 'LOC100129203', 'score': 0.31}]
chr11 GH11I095210 95210048 95211962 0.38 [{'connected_gene': 'SESN3', 'score': 11.65}, {'connected_gene': 'LOC101929295', 'score': 11.52}, {'connected_gene': 'ENSG00000282834', 'score': 0.44}, {'connected_gene': 'LOC100129203', 'score': 0.37}]
chr11 GH11I095575 95575677 95575826 0.2 [{'connected_gene': 'SESN3', 'score': 19.02}, {'connected_gene': 'LOC101929295', 'score': 10.61}, {'connected_gene': 'GC11M095577', 'score': 0.44}, {'connected_gene': 'GC11M095547', 'score': 0.37}]
chr11 GH11I095306 95306766 95307989 0.2 [{'connected_gene': 'SESN3', 'score': 11.61}, {'connected_gene': 'LOC101929295', 'score': 11.52}, {'connected_gene': 'PIR45781', 'score': 0.37}, {'connected_gene': 'GC11M095250', 'score': 0.31}, {'connected_gene': 'GC11M095274', 'score': 0.29}]
chr11 GH11I095289 95289099 95290189 0.2 [{'connected_gene': 'SESN3', 'score': 11.15}, {'connected_gene': 'LOC101929295', 'score': 11.05}, {'connected_gene': 'GC11M095274', 'score': 0.39}, {'connected_gene': 'PIR45781', 'score': 0.29}, {'connected_gene': 'GC11M095250', 'score': 0.26}]
chr11 GH11I095279 95279728 95284453 1.17 [{'connected_gene': 'SESN3', 'score': 11.55}, {'connected_gene': 'LOC101929295', 'score': 11.42}, {'connected_gene': 'GC11M095274', 'score': 0.44}, {'connected_gene': 'PIR45781', 'score': 0.26}, {'connected_gene': 'GC11M095250', 'score': 0.23}]
chr11 GH11I095266 95266751 95269491 0.59 [{'connected_gene': 'SESN3', 'score': 11.71}, {'connected_gene': 'LOC101929295', 'score': 11.56}, {'connected_gene': 'GC11M095260', 'score': 0.44}, {'connected_gene': 'GC11M095274', 'score': 0.44}, {'connected_gene': 'GC11M095250', 'score': 0.2}]
chr11 GH11I095495 95495382 95496291 0.2 [{'connected_gene': 'SESN3', 'score': 24.25}, {'connected_gene': 'LOC101929295', 'score': 10.28}, {'connected_gene': 'ENSG00000250390', 'score': 0.39}, {'connected_gene': 'GC11P095515', 'score': 0.37}]
chr11 GH11I095298 95298677 95299516 0.74 [{'connected_gene': 'SESN3', 'score': 10.81}, {'connected_gene': 'LOC101929295', 'score': 10.72}, {'connected_gene': 'PIR45781', 'score': 0.34}, {'connected_gene': 'GC11M095274', 'score': 0.34}, {'connected_gene': 'GC11M095250', 'score': 0.29}]
chr11 GH11I095200 95200278 95201808 0.2 [{'connected_gene': 'SESN3', 'score': 10.82}, {'connected_gene': 'LOC101929295', 'score': 10.76}, {'connected_gene': 'ENSG00000282834', 'score': 0.77}, {'connected_gene': 'GC11M095185', 'score': 0.39}]
chr11 GH11I095511 95511777 95513563 1.02 [{'connected_gene': 'SESN3', 'score': 14.19}, {'connected_gene': 'LOC101929295', 'score': 9.75}, {'connected_gene': 'GC11P095515', 'score': 0.77}, {'connected_gene': 'ENSG00000250390', 'score': 0.29}]
chr11 GH11I095291 95291400 95297482 1.11 [{'connected_gene': 'SESN3', 'score': 11.45}, {'connected_gene': 'LOC101929295', 'score': 11.35}, {'connected_gene': 'GC11M095274', 'score': 0.37}, {'connected_gene': 'PIR45781', 'score': 0.31}, {'connected_gene': 'GC11M095250', 'score': 0.28}]
chr11 GH11I095304 95304733 95306500 0.43 [{'connected_gene': 'SESN3', 'score': 11.61}, {'connected_gene': 'LOC101929295', 'score': 11.52}, {'connected_gene': 'PIR45781', 'score': 0.37}, {'connected_gene': 'GC11M095250', 'score': 0.31}, {'connected_gene': 'GC11M095274', 'score': 0.31}]
chr11 GH11I095297 95297771 95298550 0.63 [{'connected_gene': 'SESN3', 'score': 10.81}, {'connected_gene': 'LOC101929295', 'score': 10.72}, {'connected_gene': 'PIR45781', 'score': 0.34}, {'connected_gene': 'GC11M095274', 'score': 0.34}, {'connected_gene': 'GC11M095250', 'score': 0.28}]
chr11 GH11I095576 95576074 95578475 0.52 [{'connected_gene': 'SESN3', 'score': 15.48}, {'connected_gene': 'LOC101929295', 'score': 10.61}, {'connected_gene': 'GC11M095577', 'score': 0.44}, {'connected_gene': 'GC11M095547', 'score': 0.37}]
chr11 GH11I095154 95154577 95154786 0.67 [{'connected_gene': 'SESN3', 'score': 9.74}, {'connected_gene': 'ENSG00000270578', 'score': 4.85}, {'connected_gene': 'LOC101929295', 'score': 0.77}, {'connected_gene': 'GC11M095158', 'score': 0.44}]
chr11 GH11I095484 95484956 95486394 0.31 [{'connected_gene': 'SESN3', 'score': 6.13}, {'connected_gene': 'ENSG00000250390', 'score': 0.77}, {'connected_gene': 'GC11P095515', 'score': 0.31}]
chr11 GH11I095498 95498837 95500234 0.64 [{'connected_gene': 'SESN3', 'score': 13.85}, {'connected_gene': 'GC11P095515', 'score': 0.37}, {'connected_gene': 'ENSG00000250390', 'score': 0.37}]
chr11 GH11I095234 95234656 95235301 0.38 [{'connected_gene': 'SESN3', 'score': 0.77}, {'connected_gene': 'GC11M095260', 'score': 0.31}]
chr11 GH11I095241 95241285 95244287 1.22 [{'connected_gene': 'SESN3', 'score': 0.39}, {'connected_gene': 'GC11M095260', 'score': 0.34}]
chr11 GH11I095146 95146608 95154450 2.25 [{'connected_gene': 'LOC101929295', 'score': 556.79}, {'connected_gene': 'CEP57', 'score': 20.31}, {'connected_gene': 'FAM76B', 'score': 16.44}, {'connected_gene': 'FGFR3P2', 'score': 15.64}, {'connected_gene': 'SESN3', 'score': 15.61}, {'connected_gene': 'ANKRD49', 'score': 13.94}, {'connected_gene': 'MRE11', 'score': 12.94}, {'connected_gene': 'SRSF8', 'score': 7.48}, {'connected_gene': 'ENDOD1', 'score': 6.65}, {'connected_gene': 'LOC105369435', 'score': 5.31}, {'connected_gene': 'CWC15', 'score': 1.93}, {'connected_gene': 'KDM4E', 'score': 1.7}, {'connected_gene': 'ENSG00000270578', 'score': 0.44}]
chr11 GH11I095702 95702401 95703847 0.93 [{'connected_gene': 'LOC101929295', 'score': 11.19}, {'connected_gene': 'SESN3', 'score': 10.51}, {'connected_gene': 'CEP57', 'score': 5.69}, {'connected_gene': 'FAM76B', 'score': 1.75}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'GC11M095720', 'score': 0.31}]
chr11 GH11I095705 95705137 95706338 1.2 [{'connected_gene': 'LOC101929295', 'score': 11.67}, {'connected_gene': 'SESN3', 'score': 10.51}, {'connected_gene': 'CEP57', 'score': 7.6}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'GC11M095720', 'score': 0.34}]
chr11 GH11I095704 95704897 95705046 0.58 [{'connected_gene': 'LOC101929295', 'score': 11.19}, {'connected_gene': 'SESN3', 'score': 10.51}, {'connected_gene': 'CEP57', 'score': 6.34}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'GC11M095720', 'score': 0.31}]
chr11 GH11I095688 95688877 95689217 0.86 [{'connected_gene': 'LOC101929295', 'score': 9.88}, {'connected_gene': 'SESN3', 'score': 9.78}, {'connected_gene': 'FAM76B', 'score': 1.67}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'LOC105369441', 'score': 0.19}]
chr11 GH11I095690 95688597 95688746 0.2 [{'connected_gene': 'LOC101929295', 'score': 9.88}, {'connected_gene': 'SESN3', 'score': 9.78}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'LOC105369441', 'score': 0.19}]
chr11 GH11I095691 95691809 95692477 0.2 [{'connected_gene': 'LOC101929295', 'score': 9.88}, {'connected_gene': 'SESN3', 'score': 9.78}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'LOC105369441', 'score': 0.18}]
chr11 GH11I095689 95689431 95690754 0.38 [{'connected_gene': 'LOC101929295', 'score': 9.88}, {'connected_gene': 'SESN3', 'score': 9.78}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'LOC105369441', 'score': 0.19}]
chr11 GH11I095692 95692748 95693082 0.31 [{'connected_gene': 'LOC101929295', 'score': 9.88}, {'connected_gene': 'SESN3', 'score': 9.78}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'LOC105369441', 'score': 0.18}]
chr11 GH11I095458 95458785 95460422 0.38 [{'connected_gene': 'LOC101929295', 'score': 9.82}, {'connected_gene': 'SESN3', 'score': 4.59}, {'connected_gene': 'LOC105369439', 'score': 0.44}, {'connected_gene': 'GC11M095337', 'score': 0.13}]
chr11 GH11I095182 95182137 95183637 0.2 [{'connected_gene': 'LOC101929295', 'score': 15.11}, {'connected_gene': 'SESN3', 'score': 10.23}, {'connected_gene': 'GC11M095185', 'score': 0.44}, {'connected_gene': 'GC11M095165', 'score': 0.39}]
chr11 GH11I095244 95244429 95246181 0.66 [{'connected_gene': 'LOC101929295', 'score': 10.09}, {'connected_gene': 'SESN3', 'score': 0.39}, {'connected_gene': 'GC11M095260', 'score': 0.37}]
chr11 GH11I095221 95221205 95226976 0.46 [{'connected_gene': 'LOC101929295', 'score': 14.9}, {'connected_gene': 'LOC100129203', 'score': 0.44}, {'connected_gene': 'SESN3', 'score': 0.44}, {'connected_gene': 'ENSG00000282834', 'score': 0.34}]
chr11 GH11I095212 95212414 95215981 0.31 [{'connected_gene': 'LOC101929295', 'score': 11.76}, {'connected_gene': 'ENSG00000282834', 'score': 0.39}, {'connected_gene': 'LOC100129203', 'score': 0.37}, {'connected_gene': 'SESN3', 'score': 0.37}]
chr11 GH11I095248 95248317 95249576 0.95 [{'connected_gene': 'FGFR3P2', 'score': 15.87}, {'connected_gene': 'FAM76B', 'score': 15.57}, {'connected_gene': 'MRE11', 'score': 14.34}, {'connected_gene': 'ANKRD49', 'score': 11.55}, {'connected_gene': 'CEP57', 'score': 11.34}, {'connected_gene': 'LOC101929295', 'score': 9.91}, {'connected_gene': 'GC11M095260', 'score': 0.39}, {'connected_gene': 'SESN3', 'score': 0.37}]
chr11 GH11I095228 95228018 95233778 2.18 [{'connected_gene': 'LOC100129203', 'score': 550.77}, {'connected_gene': 'SESN3', 'score': 550.77}, {'connected_gene': 'MRE11', 'score': 12.14}, {'connected_gene': 'FGFR3P2', 'score': 11.27}, {'connected_gene': 'CEP57', 'score': 11.24}, {'connected_gene': 'FAM76B', 'score': 10.37}, {'connected_gene': 'LOC101929295', 'score': 5.0}]
chr11 GH11I095697 95697442 95701259 1.12 [{'connected_gene': 'ENSG00000255605', 'score': 550.77}, {'connected_gene': 'CEP57', 'score': 20.97}, {'connected_gene': 'FAM76B', 'score': 12.43}, {'connected_gene': 'LOC101929295', 'score': 11.41}, {'connected_gene': 'SESN3', 'score': 11.3}, {'connected_gene': 'GC11M095720', 'score': 0.29}]
chr11 GH11I095335 95335871 95342243 1.23 [{'connected_gene': 'GC11M095337', 'score': 550.77}, {'connected_gene': 'MRE11', 'score': 22.02}, {'connected_gene': 'FAM76B', 'score': 13.11}, {'connected_gene': 'SESN3', 'score': 11.13}, {'connected_gene': 'ANKRD49', 'score': 11.08}, {'connected_gene': 'LOC101929295', 'score': 11.07}, {'connected_gene': 'FGFR3P2', 'score': 9.86}, {'connected_gene': 'LOC105369439', 'score': 0.13}]
chr11 GH11I095332 95332632 95332758 0.22 [{'connected_gene': 'GC11M095250', 'score': 550.77}, {'connected_gene': 'SESN3', 'score': 10.58}, {'connected_gene': 'LOC101929295', 'score': 10.53}, {'connected_gene': 'KDM4E', 'score': 1.23}, {'connected_gene': 'PIR45781', 'score': 0.44}]
chr11 GH11I095555 95555613 95557179 0.96 [{'connected_gene': 'GC11M095547', 'score': 550.77}, {'connected_gene': 'SESN3', 'score': 10.08}, {'connected_gene': 'LOC101929295', 'score': 10.07}, {'connected_gene': 'SRSF8', 'score': 4.8}, {'connected_gene': 'GC11M095524', 'score': 0.29}]
chr11 GH11I095330 95330878 95332565 0.31 [{'connected_gene': 'GC11M095250', 'score': 550.77}, {'connected_gene': 'SESN3', 'score': 10.59}, {'connected_gene': 'LOC101929295', 'score': 10.53}, {'connected_gene': 'PIR45781', 'score': 0.44}]
chr11 GH11I095584 95584220 95586771 0.46 [{'connected_gene': 'GC11M095577', 'score': 550.77}, {'connected_gene': 'SESN3', 'score': 14.64}, {'connected_gene': 'LOC101929295', 'score': 10.13}, {'connected_gene': 'GC11P095600', 'score': 0.37}]
chr11 GH11I095189 95189288 95191927 0.38 [{'connected_gene': 'GC11M095185', 'score': 550.77}, {'connected_gene': 'LOC101929295', 'score': 11.13}, {'connected_gene': 'SESN3', 'score': 11.08}, {'connected_gene': 'ENSG00000282834', 'score': 0.39}]
chr11 GH11I095187 95187093 95188356 0.31 [{'connected_gene': 'GC11M095185', 'score': 550.77}, {'connected_gene': 'LOC101929295', 'score': 11.11}, {'connected_gene': 'SESN3', 'score': 11.02}, {'connected_gene': 'GC11M095165', 'score': 0.37}]

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