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
ENST00000397609 [[38746327, 38746433], [38756232, 38756378], [38757469, 38757604], [38762427, 38762606], [38765705, 38765786], [38766382, 38766499], [38773492, 38773660], [38776455, 38779911]] [[38746362, 38746433], [38756232, 38756378], [38757469, 38757604], [38762427, 38762606], [38765705, 38765786], [38766382, 38766499], [38773492, 38773660], [38776455, 38776860]]
ENST00000491535 [[38746354, 38746433], [38756232, 38756378], [38757469, 38757604], [38762427, 38762606], [38765705, 38765786], [38766382, 38766499], [38773492, 38775866]] [[38746362, 38746433], [38756232, 38756378], [38757469, 38757604], [38762427, 38762606], [38765705, 38765786], [38766382, 38766499], [38773492, 38773756]]
ENST00000305752 [[38756349, 38756378], [38757469, 38757604], [38762427, 38762863]] None
ENST00000559431 [[38757546, 38757604], [38762427, 38762606], [38765705, 38765726], [38776792, 38776839]] [[38757546, 38757604], [38762427, 38762606], [38765705, 38765726], [38776792, 38776839]]
NM_173611 [[38746327, 38746433], [38756232, 38756378], [38757469, 38757604], [38762427, 38762606], [38765705, 38765786], [38766382, 38766499], [38773492, 38773660], [38776455, 38779911]] [[38746362, 38746433], [38756232, 38756378], [38757469, 38757604], [38762427, 38762606], [38765705, 38765786], [38766382, 38766499], [38773492, 38773660], [38776455, 38776860]]
Promoter
Chrom Start End Description
chr15 38746307 38746388 CAGE_peak_1_at_FAM98B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I038489 38489939 38491390 0.4 [{'connected_gene': 'C15orf53', 'score': 11.11}, {'connected_gene': 'FAM98B', 'score': 11.03}, {'connected_gene': 'LOC105370774', 'score': 0.39}, {'connected_gene': 'LOC100422645', 'score': 0.29}, {'connected_gene': 'RASGRP1', 'score': 0.19}]
chr15 GH15I038480 38480804 38483192 0.49 [{'connected_gene': 'C15orf53', 'score': 11.11}, {'connected_gene': 'FAM98B', 'score': 10.87}, {'connected_gene': 'RASGRP1', 'score': 10.65}, {'connected_gene': 'LOC105370774', 'score': 0.34}, {'connected_gene': 'LOC100422645', 'score': 0.34}]
chr15 GH15I038491 38491818 38492166 0.46 [{'connected_gene': 'C15orf53', 'score': 11.07}, {'connected_gene': 'FAM98B', 'score': 11.01}, {'connected_gene': 'RASGRP1', 'score': 2.93}, {'connected_gene': 'LOC105370774', 'score': 0.39}, {'connected_gene': 'LOC100422645', 'score': 0.29}]
chr15 GH15I038546 38546663 38548096 0.77 [{'connected_gene': 'C15orf53', 'score': 10.29}, {'connected_gene': 'FAM98B', 'score': 9.87}, {'connected_gene': 'GC15P038543', 'score': 0.44}, {'connected_gene': 'RASGRP1', 'score': 0.37}]
chr15 GH15I038474 38474260 38474449 0.71 [{'connected_gene': 'C15orf53', 'score': 12.38}, {'connected_gene': 'FAM98B', 'score': 11.64}, {'connected_gene': 'LOC100422645', 'score': 0.39}, {'connected_gene': 'LOC105370774', 'score': 0.31}]
chr15 GH15I038668 38668040 38668189 0.63 [{'connected_gene': 'C15orf53', 'score': 11.63}, {'connected_gene': 'RASGRP1', 'score': 11.3}, {'connected_gene': 'FAM98B', 'score': 9.77}, {'connected_gene': 'LOC105370775', 'score': 0.77}]
chr15 GH15I039126 39126802 39134401 1.59 [{'connected_gene': 'FAM98B', 'score': 13.47}, {'connected_gene': 'THBS1', 'score': 10.41}, {'connected_gene': 'SRP14', 'score': 10.37}, {'connected_gene': 'LOC105370780', 'score': 0.28}, {'connected_gene': 'LOC105370781', 'score': 0.14}, {'connected_gene': 'LOC105370777', 'score': 0.06}]
chr15 GH15I038486 38486139 38488239 0.31 [{'connected_gene': 'FAM98B', 'score': 17.8}, {'connected_gene': 'C15orf53', 'score': 11.11}, {'connected_gene': 'LOC105370774', 'score': 0.37}, {'connected_gene': 'LOC100422645', 'score': 0.31}, {'connected_gene': 'RASGRP1', 'score': 0.18}]
chr15 GH15I038453 38453401 38455767 2.1 [{'connected_gene': 'FAM98B', 'score': 550.77}, {'connected_gene': 'C15orf53', 'score': 10.91}, {'connected_gene': 'RASGRP1', 'score': 10.68}, {'connected_gene': 'LOC100422645', 'score': 0.77}]
chr15 GH15I038411 38411908 38412706 0.2 [{'connected_gene': 'FAM98B', 'score': 10.99}, {'connected_gene': 'SPRED1', 'score': 10.18}, {'connected_gene': 'GC15P038333', 'score': 0.18}]
chr15 GH15I038397 38397830 38398826 0.69 [{'connected_gene': 'FAM98B', 'score': 10.51}, {'connected_gene': 'SPRED1', 'score': 10.2}, {'connected_gene': 'GC15P038333', 'score': 0.2}]
chr15 GH15I038864 38864232 38866236 0.83 [{'connected_gene': 'FAM98B', 'score': 4.53}, {'connected_gene': 'ENSG00000274281', 'score': 0.39}, {'connected_gene': 'LOC105370781', 'score': 0.1}, {'connected_gene': 'LOC105370777', 'score': 0.03}]
chr15 GH15I038707 38707940 38709056 0.83 [{'connected_gene': 'FAM98B', 'score': 9.96}, {'connected_gene': 'RASGRP1', 'score': 7.69}, {'connected_gene': 'C15orf53', 'score': 0.39}, {'connected_gene': 'LOC105370776', 'score': 0.34}]
chr15 GH15I038493 38493254 38499903 0.43 [{'connected_gene': 'FAM98B', 'score': 17.94}, {'connected_gene': 'RASGRP1', 'score': 11.27}, {'connected_gene': 'C15orf53', 'score': 11.07}, {'connected_gene': 'LOC105370774', 'score': 0.44}, {'connected_gene': 'LOC100422645', 'score': 0.28}]
chr15 GH15I038514 38514538 38515955 0.38 [{'connected_gene': 'FAM98B', 'score': 17.16}, {'connected_gene': 'RASGRP1', 'score': 10.99}, {'connected_gene': 'ENSG00000259598', 'score': 0.44}, {'connected_gene': 'LOC105370774', 'score': 0.39}, {'connected_gene': 'GC15P038504', 'score': 0.39}]
chr15 GH15I038437 38437692 38438608 1.07 [{'connected_gene': 'FAM98B', 'score': 5.18}, {'connected_gene': 'GC15P038333', 'score': 0.14}]
chr15 GH15I038440 38440099 38440999 1.06 [{'connected_gene': 'FAM98B', 'score': 5.28}, {'connected_gene': 'GC15P038333', 'score': 0.14}]
chr15 GH15I038373 38373722 38379072 0.58 [{'connected_gene': 'SPRED1', 'score': 10.68}, {'connected_gene': 'GC15P038333', 'score': 0.26}, {'connected_gene': 'FAM98B', 'score': 0.18}]
chr15 GH15I038298 38298905 38299964 0.31 [{'connected_gene': 'SPRED1', 'score': 10.98}, {'connected_gene': 'FAM98B', 'score': 10.56}, {'connected_gene': 'GC15P038333', 'score': 0.29}]
chr15 GH15I038071 38071284 38074431 1.62 [{'connected_gene': 'LINC01852', 'score': 550.77}, {'connected_gene': 'SPRED1', 'score': 10.73}, {'connected_gene': 'FAM98B', 'score': 10.51}, {'connected_gene': 'LINC02345', 'score': 0.17}]
chr15 GH15I038669 38669139 38673772 1.2 [{'connected_gene': 'LOC105370775', 'score': 550.77}, {'connected_gene': 'RASGRP1', 'score': 23.89}, {'connected_gene': 'C15orf53', 'score': 11.79}, {'connected_gene': 'FAM98B', 'score': 10.31}]
chr15 GH15I038674 38674040 38674813 0.56 [{'connected_gene': 'RASGRP1', 'score': 23.06}, {'connected_gene': 'C15orf53', 'score': 11.37}, {'connected_gene': 'FAM98B', 'score': 10.26}, {'connected_gene': 'LOC105370775', 'score': 0.77}]
chr15 GH15I038670 38668213 38668754 0.58 [{'connected_gene': 'RASGRP1', 'score': 22.58}, {'connected_gene': 'C15orf53', 'score': 11.63}, {'connected_gene': 'FAM98B', 'score': 9.77}, {'connected_gene': 'LOC105370775', 'score': 0.77}]
chr15 GH15I038538 38538417 38539253 0.4 [{'connected_gene': 'RASGRP1', 'score': 11.82}, {'connected_gene': 'C15orf53', 'score': 10.53}, {'connected_gene': 'FAM98B', 'score': 10.39}, {'connected_gene': 'GC15P038543', 'score': 0.77}, {'connected_gene': 'ENSG00000259598', 'score': 0.39}]
chr15 GH15I038702 38702264 38703131 0.62 [{'connected_gene': 'RASGRP1', 'score': 16.2}, {'connected_gene': 'FAM98B', 'score': 10.62}, {'connected_gene': 'C15orf53', 'score': 0.44}, {'connected_gene': 'LOC105370776', 'score': 0.31}]
chr15 GH15I038699 38699780 38699929 0.84 [{'connected_gene': 'RASGRP1', 'score': 16.71}, {'connected_gene': 'FAM98B', 'score': 10.62}, {'connected_gene': 'C15orf53', 'score': 0.77}, {'connected_gene': 'LOC105370776', 'score': 0.29}]
chr15 GH15I038700 38700109 38700704 0.43 [{'connected_gene': 'RASGRP1', 'score': 16.71}, {'connected_gene': 'FAM98B', 'score': 10.62}, {'connected_gene': 'C15orf53', 'score': 0.77}, {'connected_gene': 'LOC105370776', 'score': 0.29}]
chr15 GH15I038682 38682931 38683146 0.71 [{'connected_gene': 'RASGRP1', 'score': 14.39}, {'connected_gene': 'FAM98B', 'score': 10.54}, {'connected_gene': 'C15orf53', 'score': 0.39}, {'connected_gene': 'LOC105370775', 'score': 0.39}]
chr15 GH15I038650 38650208 38654261 1.35 [{'connected_gene': 'RASGRP1', 'score': 47.15}, {'connected_gene': 'FAM98B', 'score': 10.18}, {'connected_gene': 'C15orf53', 'score': 5.8}, {'connected_gene': 'LOC105370775', 'score': 0.37}]
chr15 GH15I038684 38683700 38683909 0.8 [{'connected_gene': 'RASGRP1', 'score': 12.27}, {'connected_gene': 'FAM98B', 'score': 10.54}, {'connected_gene': 'C15orf53', 'score': 0.39}, {'connected_gene': 'LOC105370775', 'score': 0.39}]
chr15 GH15I038685 38684514 38688761 0.94 [{'connected_gene': 'RASGRP1', 'score': 17.0}, {'connected_gene': 'FAM98B', 'score': 10.22}, {'connected_gene': 'C15orf53', 'score': 3.58}, {'connected_gene': 'LOC105370775', 'score': 0.39}]
chr15 GH15I038683 38683304 38683609 0.74 [{'connected_gene': 'RASGRP1', 'score': 12.27}, {'connected_gene': 'FAM98B', 'score': 10.54}, {'connected_gene': 'C15orf53', 'score': 0.39}, {'connected_gene': 'LOC105370775', 'score': 0.39}]
chr15 GH15I038689 38689604 38690809 0.84 [{'connected_gene': 'RASGRP1', 'score': 18.82}, {'connected_gene': 'FAM98B', 'score': 10.22}, {'connected_gene': 'C15orf53', 'score': 0.44}, {'connected_gene': 'LOC105370775', 'score': 0.37}]
chr15 GH15I038588 38588780 38589960 0.79 [{'connected_gene': 'RASGRP1', 'score': 11.75}, {'connected_gene': 'FAM98B', 'score': 10.03}, {'connected_gene': 'LOC105370775', 'score': 0.18}]
chr15 GH15I038646 38646014 38647275 0.43 [{'connected_gene': 'RASGRP1', 'score': 27.11}, {'connected_gene': 'FAM98B', 'score': 10.38}, {'connected_gene': 'LOC105370775', 'score': 0.31}]
chr15 GH15I038624 38624533 38624749 0.56 [{'connected_gene': 'RASGRP1', 'score': 18.59}, {'connected_gene': 'FAM98B', 'score': 9.33}, {'connected_gene': 'LOC105370775', 'score': 0.25}]
chr15 GH15I038657 38657137 38657856 0.2 [{'connected_gene': 'RASGRP1', 'score': 19.99}, {'connected_gene': 'FAM98B', 'score': 10.18}, {'connected_gene': 'LOC105370775', 'score': 0.39}]
chr15 GH15I038654 38654927 38656241 0.2 [{'connected_gene': 'RASGRP1', 'score': 28.28}, {'connected_gene': 'FAM98B', 'score': 10.18}, {'connected_gene': 'LOC105370775', 'score': 0.37}]
chr15 GH15I038647 38647740 38649047 0.8 [{'connected_gene': 'RASGRP1', 'score': 10.81}, {'connected_gene': 'FAM98B', 'score': 10.38}, {'connected_gene': 'LOC105370775', 'score': 0.34}]
chr15 GH15I038587 38587040 38587546 0.66 [{'connected_gene': 'RASGRP1', 'score': 11.75}, {'connected_gene': 'FAM98B', 'score': 10.03}, {'connected_gene': 'LOC105370775', 'score': 0.18}]
chr15 GH15I038642 38642823 38643453 0.4 [{'connected_gene': 'RASGRP1', 'score': 31.07}, {'connected_gene': 'FAM98B', 'score': 10.07}, {'connected_gene': 'LOC105370775', 'score': 0.31}]
chr15 GH15I038507 38507025 38507917 0.2 [{'connected_gene': 'RASGRP1', 'score': 11.54}, {'connected_gene': 'FAM98B', 'score': 10.77}, {'connected_gene': 'GC15P038504', 'score': 0.77}, {'connected_gene': 'LOC105370774', 'score': 0.44}, {'connected_gene': 'ENSG00000259598', 'score': 0.37}]
chr15 GH15I038511 38511822 38513270 0.52 [{'connected_gene': 'RASGRP1', 'score': 11.55}, {'connected_gene': 'FAM98B', 'score': 10.76}, {'connected_gene': 'GC15P038504', 'score': 0.44}, {'connected_gene': 'LOC105370774', 'score': 0.39}, {'connected_gene': 'ENSG00000259598', 'score': 0.39}]
chr15 GH15I038461 38461001 38461441 0.49 [{'connected_gene': 'LOC100422645', 'score': 550.77}, {'connected_gene': 'C15orf53', 'score': 10.91}, {'connected_gene': 'RASGRP1', 'score': 10.7}, {'connected_gene': 'FAM98B', 'score': 0.44}, {'connected_gene': 'LOC105370774', 'score': 0.26}]
chr15 GH15I038457 38457799 38457976 0.22 [{'connected_gene': 'LOC100422645', 'score': 550.77}, {'connected_gene': 'C15orf53', 'score': 10.91}, {'connected_gene': 'RASGRP1', 'score': 10.69}, {'connected_gene': 'FAM98B', 'score': 0.77}]
chr15 GH15I038354 38354500 38354589 0.56 [{'connected_gene': 'GC15P038333', 'score': 0.34}, {'connected_gene': 'FAM98B', 'score': 0.15}, {'connected_gene': 'SPRED1', 'score': 0.15}]
chr15 GH15I038541 38541160 38541309 0.4 [{'connected_gene': 'GC15P038543', 'score': 550.77}, {'connected_gene': 'RASGRP1', 'score': 11.85}, {'connected_gene': 'C15orf53', 'score': 10.53}, {'connected_gene': 'FAM98B', 'score': 10.39}, {'connected_gene': 'ENSG00000259598', 'score': 0.37}]
chr15 GH15I038523 38522227 38523532 0.46 [{'connected_gene': 'ENSG00000259598', 'score': 550.77}, {'connected_gene': 'RASGRP1', 'score': 11.4}, {'connected_gene': 'FAM98B', 'score': 10.52}, {'connected_gene': 'C15orf53', 'score': 10.46}, {'connected_gene': 'GC15P038504', 'score': 0.34}]
chr15 GH15I038522 38522146 38522181 0.45 [{'connected_gene': 'ENSG00000259598', 'score': 550.77}, {'connected_gene': 'RASGRP1', 'score': 17.16}, {'connected_gene': 'FAM98B', 'score': 10.52}, {'connected_gene': 'C15orf53', 'score': 1.34}, {'connected_gene': 'GC15P038504', 'score': 0.37}]

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