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
ENST00000316398 [[85394892, 85397320]] [[85396048, 85397173]]
NM_152723 [[85394886, 85397320]] [[85396048, 85397173]]
Promoter
Chrom Start End Description
chr11 85397167 85397254 CAGE_peak_1_at_CCDC89_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I085644 85644752 85645982 0.38 [{'connected_gene': 'TMEM126A', 'score': 12.88}, {'connected_gene': 'CREBZF', 'score': 10.82}, {'connected_gene': 'CCDC89', 'score': 10.81}, {'connected_gene': 'DLG2', 'score': 9.92}, {'connected_gene': 'TMEM126B', 'score': 0.37}]
chr11 GH11I085539 85539469 85541486 0.51 [{'connected_gene': 'TMEM126A', 'score': 9.53}, {'connected_gene': 'DLG2', 'score': 7.33}, {'connected_gene': 'SYTL2', 'score': 6.81}, {'connected_gene': 'CCDC89', 'score': 5.74}, {'connected_gene': 'RNU6-1292P', 'score': 0.29}]
chr11 GH11I085646 85646246 85649397 2.05 [{'connected_gene': 'TMEM126A', 'score': 557.49}, {'connected_gene': 'CCDC89', 'score': 10.82}, {'connected_gene': 'CREBZF', 'score': 10.82}, {'connected_gene': 'DLG2', 'score': 8.71}, {'connected_gene': 'SYTL2', 'score': 6.98}, {'connected_gene': 'TMEM126B', 'score': 0.37}]
chr11 GH11I085961 85961182 85963060 0.84 [{'connected_gene': 'CREBZF', 'score': 25.35}, {'connected_gene': 'EED', 'score': 24.55}, {'connected_gene': 'CCDC83', 'score': 11.48}, {'connected_gene': 'LOC100289518', 'score': 10.68}, {'connected_gene': 'HIKESHI', 'score': 10.13}, {'connected_gene': 'CCDC89', 'score': 9.01}, {'connected_gene': 'PICALM', 'score': 7.38}, {'connected_gene': 'SLC25A1P1', 'score': 0.31}]
chr11 GH11I085661 85661800 85667255 2.26 [{'connected_gene': 'CREBZF', 'score': 550.37}, {'connected_gene': 'TMEM126A', 'score': 12.61}, {'connected_gene': 'EED', 'score': 9.82}, {'connected_gene': 'CCDC89', 'score': 9.0}, {'connected_gene': 'SYTL2', 'score': 6.68}, {'connected_gene': 'GC11M085678', 'score': 0.37}]
chr11 GH11I085659 85659865 85661632 0.43 [{'connected_gene': 'CREBZF', 'score': 11.4}, {'connected_gene': 'CCDC89', 'score': 11.03}, {'connected_gene': 'TMEM126A', 'score': 0.39}, {'connected_gene': 'GC11M085678', 'score': 0.34}]
chr11 GH11I085705 85705458 85706508 0.51 [{'connected_gene': 'CREBZF', 'score': 10.95}, {'connected_gene': 'CCDC89', 'score': 0.37}, {'connected_gene': 'SYTL2', 'score': 0.14}]
chr11 GH11I085748 85748458 85748567 0.52 [{'connected_gene': 'CREBZF', 'score': 10.73}, {'connected_gene': 'CCDC89', 'score': 10.09}, {'connected_gene': 'SYTL2', 'score': 0.21}]
chr11 GH11I085608 85608437 85608726 0.2 [{'connected_gene': 'CREBZF', 'score': 10.27}, {'connected_gene': 'CCDC89', 'score': 10.2}, {'connected_gene': 'DLG2', 'score': 0.37}, {'connected_gene': 'RNU6-1292P', 'score': 0.15}]
chr11 GH11I085821 85821218 85825024 0.88 [{'connected_gene': 'CREBZF', 'score': 11.25}, {'connected_gene': 'CCDC83', 'score': 10.78}, {'connected_gene': 'CCDC89', 'score': 9.97}, {'connected_gene': 'TMEM126A', 'score': 4.11}, {'connected_gene': 'SYTL2', 'score': 1.79}, {'connected_gene': 'EED', 'score': 1.73}, {'connected_gene': 'ENSG00000279742', 'score': 0.29}]
chr11 GH11I086589 86589776 86597975 1.41 [{'connected_gene': 'ME3', 'score': 37.81}, {'connected_gene': 'EED', 'score': 35.12}, {'connected_gene': 'CREBZF', 'score': 27.28}, {'connected_gene': 'ENSG00000279742', 'score': 22.79}, {'connected_gene': 'LOC100420680', 'score': 11.51}, {'connected_gene': 'TMEM126B', 'score': 10.12}, {'connected_gene': 'CCDC89', 'score': 10.06}, {'connected_gene': 'PRSS23', 'score': 5.76}, {'connected_gene': 'GC11P086590', 'score': 0.77}, {'connected_gene': 'PIR37636', 'score': 0.77}, {'connected_gene': 'PIR51163', 'score': 0.34}, {'connected_gene': 'GC11M086573', 'score': 0.13}, {'connected_gene': 'ENSG00000254733', 'score': 0.1}]
chr11 GH11I085751 85751343 85754235 1.02 [{'connected_gene': 'SYTL2', 'score': 24.13}, {'connected_gene': 'CREBZF', 'score': 11.92}, {'connected_gene': 'CCDC89', 'score': 10.38}, {'connected_gene': 'ENSG00000279742', 'score': 4.66}, {'connected_gene': 'EED', 'score': 1.4}]
chr11 GH11I085599 85599729 85599924 0.22 [{'connected_gene': 'SYTL2', 'score': 19.57}, {'connected_gene': 'CREBZF', 'score': 9.93}, {'connected_gene': 'CCDC89', 'score': 9.92}, {'connected_gene': 'DLG2', 'score': 0.31}, {'connected_gene': 'RNU6-1292P', 'score': 0.17}]
chr11 GH11I085759 85759478 85760880 0.6 [{'connected_gene': 'SYTL2', 'score': 27.09}, {'connected_gene': 'CREBZF', 'score': 10.87}, {'connected_gene': 'CCDC89', 'score': 9.79}]
chr11 GH11I085745 85745362 85746570 0.31 [{'connected_gene': 'SYTL2', 'score': 29.86}, {'connected_gene': 'CREBZF', 'score': 10.73}, {'connected_gene': 'CCDC89', 'score': 10.01}]
chr11 GH11I085786 85786204 85788814 1.09 [{'connected_gene': 'SYTL2', 'score': 14.1}, {'connected_gene': 'TMEM126B', 'score': 13.23}, {'connected_gene': 'CCDC89', 'score': 9.95}, {'connected_gene': 'CCDC83', 'score': 8.99}]
chr11 GH11I085716 85716001 85720953 2.21 [{'connected_gene': 'SYTL2', 'score': 581.65}, {'connected_gene': 'CCDC89', 'score': 10.88}, {'connected_gene': 'CREBZF', 'score': 10.86}, {'connected_gene': 'CCDC83', 'score': 6.55}, {'connected_gene': 'TMEM126A', 'score': 4.07}]
chr11 GH11I085708 85708448 85708822 0.29 [{'connected_gene': 'SYTL2', 'score': 11.75}, {'connected_gene': 'CCDC89', 'score': 10.95}, {'connected_gene': 'CREBZF', 'score': 10.92}]
chr11 GH11I085771 85771403 85773758 0.63 [{'connected_gene': 'SYTL2', 'score': 27.06}, {'connected_gene': 'CCDC89', 'score': 10.44}, {'connected_gene': 'CREBZF', 'score': 10.44}]
chr11 GH11I085800 85800718 85800867 0.4 [{'connected_gene': 'SYTL2', 'score': 12.11}, {'connected_gene': 'CCDC89', 'score': 9.05}, {'connected_gene': 'CREBZF', 'score': 9.04}]
chr11 GH11I085725 85725013 85726991 0.87 [{'connected_gene': 'SYTL2', 'score': 31.31}, {'connected_gene': 'CCDC89', 'score': 10.43}, {'connected_gene': 'CREBZF', 'score': 10.42}]
chr11 GH11I085755 85755251 85757692 0.71 [{'connected_gene': 'SYTL2', 'score': 17.16}, {'connected_gene': 'CCDC89', 'score': 10.37}, {'connected_gene': 'CREBZF', 'score': 10.37}]
chr11 GH11I085790 85790989 85792367 0.2 [{'connected_gene': 'SYTL2', 'score': 24.82}, {'connected_gene': 'CCDC89', 'score': 0.14}]
chr11 GH11I085805 85805078 85808138 0.2 [{'connected_gene': 'SYTL2', 'score': 24.37}, {'connected_gene': 'CCDC89', 'score': 6.24}]
chr11 GH11I085785 85785078 85785127 0.4 [{'connected_gene': 'SYTL2', 'score': 0.31}, {'connected_gene': 'CCDC89', 'score': 0.15}]
chr11 GH11I085757 85757904 85757963 0.68 [{'connected_gene': 'SYTL2', 'score': 550.23}, {'connected_gene': 'CCDC89', 'score': 0.19}]
chr11 GH11I085758 85758104 85758163 1.04 [{'connected_gene': 'SYTL2', 'score': 550.23}, {'connected_gene': 'CCDC89', 'score': 0.19}]
chr11 GH11I085737 85737407 85738487 0.56 [{'connected_gene': 'SYTL2', 'score': 19.96}, {'connected_gene': 'CCDC89', 'score': 0.23}]
chr11 GH11I085740 85740558 85741363 0.2 [{'connected_gene': 'SYTL2', 'score': 25.36}, {'connected_gene': 'CCDC89', 'score': 0.23}]
chr11 GH11I085741 85741868 85744780 0.58 [{'connected_gene': 'SYTL2', 'score': 29.86}, {'connected_gene': 'CCDC89', 'score': 4.66}]
chr11 GH11I085783 85783898 85784090 0.24 [{'connected_gene': 'SYTL2', 'score': 8.97}, {'connected_gene': 'CCDC89', 'score': 0.15}]
chr11 GH11I085694 85694749 85696077 0.38 [{'connected_gene': 'SYTL2', 'score': 18.68}, {'connected_gene': 'CCDC83', 'score': 11.17}, {'connected_gene': 'DLG2', 'score': 10.1}, {'connected_gene': 'TMEM126B', 'score': 10.1}, {'connected_gene': 'HIKESHI', 'score': 9.13}, {'connected_gene': 'CCDC89', 'score': 5.15}]
chr11 GH11I085773 85773885 85775427 0.2 [{'connected_gene': 'SYTL2', 'score': 27.14}, {'connected_gene': 'CCDC83', 'score': 10.99}, {'connected_gene': 'CCDC89', 'score': 10.44}, {'connected_gene': 'CREBZF', 'score': 10.43}]
chr11 GH11I085808 85808872 85812041 2.29 [{'connected_gene': 'SYTL2', 'score': 578.23}, {'connected_gene': 'CCDC83', 'score': 8.54}, {'connected_gene': 'CCDC89', 'score': 6.29}]
chr11 GH11I085377 85377301 85379393 0.2 [{'connected_gene': 'DLG2', 'score': 9.95}, {'connected_gene': 'SYTL2', 'score': 8.61}, {'connected_gene': 'CCDC89', 'score': 3.89}, {'connected_gene': 'PIR45526', 'score': 0.44}, {'connected_gene': 'LOC100421303', 'score': 0.18}]
chr11 GH11I085469 85469965 85471526 0.43 [{'connected_gene': 'DLG2', 'score': 6.71}, {'connected_gene': 'CCDC89', 'score': 5.55}, {'connected_gene': 'PIR59556', 'score': 0.39}, {'connected_gene': 'LOC100421303', 'score': 0.37}]
chr11 GH11I085779 85779391 85781072 0.59 [{'connected_gene': 'CCDC89', 'score': 10.21}, {'connected_gene': 'CREBZF', 'score': 10.2}, {'connected_gene': 'SYTL2', 'score': 6.33}]
chr11 GH11I085723 85723218 85723387 0.73 [{'connected_gene': 'CCDC89', 'score': 10.43}, {'connected_gene': 'CREBZF', 'score': 10.42}, {'connected_gene': 'SYTL2', 'score': 0.17}]
chr11 GH11I085769 85769880 85770106 0.23 [{'connected_gene': 'CCDC89', 'score': 10.45}, {'connected_gene': 'CREBZF', 'score': 10.44}, {'connected_gene': 'SYTL2', 'score': 6.21}]
chr11 GH11I085684 85684379 85687274 1.87 [{'connected_gene': 'CCDC89', 'score': 565.2}, {'connected_gene': 'SYTL2', 'score': 20.89}, {'connected_gene': 'CREBZF', 'score': 0.77}]
chr11 GH11I085776 85776689 85777983 0.31 [{'connected_gene': 'CCDC89', 'score': 6.31}, {'connected_gene': 'SYTL2', 'score': 0.29}]
chr11 GH11I085738 85736318 85736567 0.2 [{'connected_gene': 'CCDC89', 'score': 0.23}, {'connected_gene': 'SYTL2', 'score': 0.19}]
chr11 GH11I085736 85736915 85737087 0.2 [{'connected_gene': 'CCDC89', 'score': 0.23}, {'connected_gene': 'SYTL2', 'score': 0.19}]
chr11 GH11I085699 85699593 85700941 0.2 [{'connected_gene': 'CCDC89', 'score': 0.39}, {'connected_gene': 'SYTL2', 'score': 0.14}]
chr11 GH11I085542 85541737 85541886 0.58 [{'connected_gene': 'CCDC89', 'score': 5.71}, {'connected_gene': 'RNU6-1292P', 'score': 0.29}, {'connected_gene': 'DLG2', 'score': 0.17}]
chr11 GH11I085825 85825443 85832874 1.29 [{'connected_gene': 'CCDC83', 'score': 25.43}, {'connected_gene': 'CREBZF', 'score': 10.18}, {'connected_gene': 'CCDC89', 'score': 10.18}, {'connected_gene': 'SYTL2', 'score': 6.73}, {'connected_gene': 'ENSG00000279742', 'score': 0.31}]
chr11 GH11I085695 85694498 85694627 0.49 [{'connected_gene': 'CCDC83', 'score': 10.81}, {'connected_gene': 'DLG2', 'score': 10.1}, {'connected_gene': 'TMEM126B', 'score': 10.1}, {'connected_gene': 'HIKESHI', 'score': 9.13}, {'connected_gene': 'CCDC89', 'score': 0.44}, {'connected_gene': 'SYTL2', 'score': 0.13}]
chr11 GH11I085854 85854001 85855858 2.04 [{'connected_gene': 'CCDC83', 'score': 566.72}, {'connected_gene': 'ENSG00000279742', 'score': 550.77}, {'connected_gene': 'CCDC89', 'score': 9.75}, {'connected_gene': 'CREBZF', 'score': 9.75}, {'connected_gene': 'SYTL2', 'score': 0.26}]
chr11 GH11I085837 85837243 85837899 0.2 [{'connected_gene': 'CCDC83', 'score': 11.97}, {'connected_gene': 'CCDC89', 'score': 9.92}, {'connected_gene': 'CREBZF', 'score': 9.92}, {'connected_gene': 'HIKESHI', 'score': 9.74}, {'connected_gene': 'ENSG00000279742', 'score': 0.37}, {'connected_gene': 'SYTL2', 'score': 0.31}]
chr11 GH11I085835 85835440 85836299 0.31 [{'connected_gene': 'CCDC83', 'score': 11.97}, {'connected_gene': 'CCDC89', 'score': 9.93}, {'connected_gene': 'CREBZF', 'score': 9.92}, {'connected_gene': 'HIKESHI', 'score': 9.74}, {'connected_gene': 'ENSG00000279742', 'score': 0.37}, {'connected_gene': 'SYTL2', 'score': 0.34}]
chr11 GH11I085682 85682201 85683487 1.37 [{'connected_gene': 'GC11M085678', 'score': 550.77}, {'connected_gene': 'CREBZF', 'score': 550.77}, {'connected_gene': 'SYTL2', 'score': 20.88}, {'connected_gene': 'CCDC89', 'score': 5.86}]