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
ENST00000511792 [[39393359, 39393495], [39394331, 39394523], [39462179, 39462402]] [[39393359, 39393495], [39394331, 39394422]]
ENST00000509457 [[39417674, 39417712], [39418282, 39418447], [39462179, 39462256]] None
ENST00000339788 [[39371779, 39373527], [39375115, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39388406, 39388469], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394523], [39424905, 39425082]] [[39375120, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39388406, 39388469], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394422]]
ENST00000320816 [[39371779, 39373527], [39375115, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388406, 39388469], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394523], [39424905, 39425272]] [[39375120, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388406, 39388469], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394422]]
ENST00000545653 [[39371779, 39373527], [39375115, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394523], [39424905, 39425335]] [[39375120, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394422]]
ENST00000509337 [[39373122, 39373527], [39375115, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394502]] [[39375120, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394422]]
ENST00000502879 [[39374846, 39375186], [39376098, 39376144]] None
ENST00000512525 [[39385269, 39385530], [39388406, 39388469], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392541]] None
ENST00000505968 [[39387798, 39388469], [39388900, 39388959]] None
ENST00000507539 [[39389209, 39389225], [39389953, 39390034], [39390545, 39390677], [39392305, 39392565], [39393355, 39393495], [39394331, 39394523], [39424905, 39425015]] [[39392445, 39392565], [39393355, 39393495], [39394331, 39394422]]
ENST00000503513 [[39393385, 39393495], [39394331, 39394523], [39423805, 39423999], [39424905, 39424970]] [[39393385, 39393495], [39394331, 39394422]]
ENST00000515700 [[39393470, 39393495], [39394331, 39394523], [39417290, 39417386], [39418282, 39418447], [39424905, 39425078]] [[39393470, 39393495], [39394331, 39394422]]
ENST00000513052 [[39394395, 39394523], [39408482, 39408939]] None
ENST00000515269 [[39394455, 39394523], [39418282, 39418447], [39424905, 39424972]] None
ENST00000511536 [[39417654, 39417712], [39418282, 39418447], [39424905, 39424972]] None
ENST00000502388 [[39418047, 39418447], [39424905, 39425061]] None
ENST00000507990 [[39460968, 39461353], [39462179, 39462400]] None
NM_001343 [[39371775, 39373527], [39375115, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388406, 39388469], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394523], [39424905, 39425335]] [[39375120, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388406, 39388469], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394422]]
NM_001244871 [[39371775, 39373527], [39375115, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394523], [39424905, 39425335]] [[39375120, 39375186], [39376098, 39376208], [39376751, 39377384], [39381555, 39381718], [39382719, 39383373], [39388900, 39388954], [39389198, 39389225], [39389953, 39390034], [39390545, 39390677], [39392466, 39392565], [39393355, 39393495], [39394331, 39394422]]
Promoter
Chrom Start End Description
chr5 39388938 39388949 CAGE_peak_6_at_DAB2_5end
chr5 39390581 39390594 CAGE_peak_12_at_DAB2_5end
chr5 39424961 39424980 CAGE_peak_1_at_C9_5end,CAGE_peak_2_at_DAB2_5end
chr5 39424998 39425006 CAGE_peak_11_at_DAB2_5end
chr5 39425015 39425020 CAGE_peak_13_at_DAB2_5end
chr5 39425045 39425067 CAGE_peak_3_at_DAB2_5end
chr5 39425068 39425098 CAGE_peak_1_at_DAB2_5end
chr5 39425107 39425112 CAGE_peak_10_at_DAB2_5end
chr5 39425163 39425178 CAGE_peak_7_at_DAB2_5end
chr5 39425222 39425283 CAGE_peak_4_at_DAB2_5end
chr5 39425290 39425336 CAGE_peak_5_at_DAB2_5end
chr5 39462221 39462233 CAGE_peak_33_at_DAB2_5end
chr5 39462245 39462252 CAGE_peak_50_at_DAB2_5end
chr5 39462267 39462297 CAGE_peak_9_at_DAB2_5end
chr5 39462298 39462311 CAGE_peak_27_at_DAB2_5end
chr5 39462314 39462332 CAGE_peak_15_at_DAB2_5end
chr5 39462336 39462343 CAGE_peak_49_at_DAB2_5end
chr5 39462348 39462359 CAGE_peak_41_at_DAB2_5end
chr5 39462363 39462369 CAGE_peak_47_at_DAB2_5end
chr5 39462390 39462405 CAGE_peak_26_at_DAB2_5end
chr5 39462422 39462430 CAGE_peak_34_at_DAB2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I039157 39157718 39159038 1.52 [{'connected_gene': 'FYB1', 'score': 17.71}, {'connected_gene': 'RICTOR', 'score': 11.36}, {'connected_gene': 'DAB2', 'score': 10.51}, {'connected_gene': 'GOLGA5P1', 'score': 0.39}, {'connected_gene': 'GC05M039106', 'score': 0.23}]
chr5 GH05I039163 39163794 39165499 1.26 [{'connected_gene': 'FYB1', 'score': 18.8}, {'connected_gene': 'RICTOR', 'score': 11.34}, {'connected_gene': 'DAB2', 'score': 10.51}, {'connected_gene': 'GOLGA5P1', 'score': 0.44}, {'connected_gene': 'GC05M039106', 'score': 0.22}]
chr5 GH05I039159 39159434 39162225 0.46 [{'connected_gene': 'FYB1', 'score': 18.37}, {'connected_gene': 'RICTOR', 'score': 11.35}, {'connected_gene': 'DAB2', 'score': 10.51}, {'connected_gene': 'GOLGA5P1', 'score': 0.44}, {'connected_gene': 'GC05M039106', 'score': 0.22}]
chr5 GH05I039268 39268401 39271000 1.36 [{'connected_gene': 'FYB1', 'score': 550.77}, {'connected_gene': 'C9', 'score': 14.64}, {'connected_gene': 'RICTOR', 'score': 9.95}, {'connected_gene': 'DAB2', 'score': 9.21}, {'connected_gene': 'GC05P039191', 'score': 0.18}]
chr5 GH05I039185 39185184 39205845 2.69 [{'connected_gene': 'FYB1', 'score': 569.26}, {'connected_gene': 'C9', 'score': 9.73}, {'connected_gene': 'DAB2', 'score': 9.72}, {'connected_gene': 'RICTOR', 'score': 4.33}, {'connected_gene': 'GC05P039191', 'score': 0.77}]
chr5 GH05I039238 39238601 39239000 0.51 [{'connected_gene': 'FYB1', 'score': 11.87}, {'connected_gene': 'C9', 'score': 9.61}, {'connected_gene': 'DAB2', 'score': 9.6}, {'connected_gene': 'GC05P039191', 'score': 0.25}]
chr5 GH05I039150 39150328 39156927 0.74 [{'connected_gene': 'RICTOR', 'score': 22.21}, {'connected_gene': 'FYB1', 'score': 17.79}, {'connected_gene': 'DAB2', 'score': 10.51}, {'connected_gene': 'GOLGA5P1', 'score': 0.37}, {'connected_gene': 'GC05M039106', 'score': 0.25}]
chr5 GH05I039394 39394200 39403428 1.69 [{'connected_gene': 'RICTOR', 'score': 13.36}, {'connected_gene': 'C9', 'score': 12.05}, {'connected_gene': 'DAB2', 'score': 11.95}, {'connected_gene': 'FYB1', 'score': 0.13}]
chr5 GH05I039458 39458468 39459848 0.8 [{'connected_gene': 'RICTOR', 'score': 21.36}, {'connected_gene': 'DAB2', 'score': 0.77}, {'connected_gene': 'C9', 'score': 0.29}]
chr5 GH05I039472 39472959 39473759 0.31 [{'connected_gene': 'C9', 'score': 10.71}, {'connected_gene': 'FYB1', 'score': 9.38}, {'connected_gene': 'DAB2', 'score': 0.39}, {'connected_gene': 'LINC02104', 'score': 0.25}]
chr5 GH05I039475 39475132 39477493 0.4 [{'connected_gene': 'C9', 'score': 10.69}, {'connected_gene': 'FYB1', 'score': 9.38}, {'connected_gene': 'DAB2', 'score': 0.39}, {'connected_gene': 'LINC02104', 'score': 0.26}]
chr5 GH05I039379 39379819 39379968 0.2 [{'connected_gene': 'C9', 'score': 11.17}, {'connected_gene': 'DAB2', 'score': 11.09}, {'connected_gene': 'FYB1', 'score': 0.14}]
chr5 GH05I039380 39380343 39381669 0.31 [{'connected_gene': 'C9', 'score': 10.75}, {'connected_gene': 'DAB2', 'score': 10.66}, {'connected_gene': 'FYB1', 'score': 0.14}]
chr5 GH05I039364 39364485 39364544 0.93 [{'connected_gene': 'C9', 'score': 550.21}, {'connected_gene': 'DAB2', 'score': 10.38}, {'connected_gene': 'FYB1', 'score': 0.17}]
chr5 GH05I039376 39376379 39376448 0.76 [{'connected_gene': 'C9', 'score': 11.19}, {'connected_gene': 'DAB2', 'score': 11.11}, {'connected_gene': 'FYB1', 'score': 0.15}]
chr5 GH05I039382 39382070 39384152 0.2 [{'connected_gene': 'C9', 'score': 11.31}, {'connected_gene': 'DAB2', 'score': 11.23}, {'connected_gene': 'FYB1', 'score': 9.51}]
chr5 GH05I039390 39390530 39392049 0.2 [{'connected_gene': 'C9', 'score': 11.97}, {'connected_gene': 'DAB2', 'score': 11.87}, {'connected_gene': 'FYB1', 'score': 0.13}]
chr5 GH05I039359 39359516 39362271 0.54 [{'connected_gene': 'C9', 'score': 10.68}, {'connected_gene': 'DAB2', 'score': 10.62}, {'connected_gene': 'FYB1', 'score': 0.17}]
chr5 GH05I039368 39368185 39371633 0.73 [{'connected_gene': 'C9', 'score': 11.07}, {'connected_gene': 'DAB2', 'score': 11.0}, {'connected_gene': 'FYB1', 'score': 0.15}]
chr5 GH05I039469 39469920 39470600 0.54 [{'connected_gene': 'C9', 'score': 11.0}, {'connected_gene': 'DAB2', 'score': 6.72}, {'connected_gene': 'LINC02104', 'score': 0.23}]
chr5 GH05I039470 39469347 39469623 0.23 [{'connected_gene': 'C9', 'score': 11.01}, {'connected_gene': 'DAB2', 'score': 0.44}, {'connected_gene': 'LINC02104', 'score': 0.23}]
chr5 GH05I039428 39428759 39428928 0.62 [{'connected_gene': 'C9', 'score': 0.77}, {'connected_gene': 'DAB2', 'score': 0.29}]
chr5 GH05I039429 39429250 39429438 0.33 [{'connected_gene': 'C9', 'score': 0.77}, {'connected_gene': 'DAB2', 'score': 0.29}]
chr5 GH05I039441 39441905 39442823 0.51 [{'connected_gene': 'C9', 'score': 0.37}, {'connected_gene': 'DAB2', 'score': 0.37}]
chr5 GH05I039431 39431718 39434929 0.4 [{'connected_gene': 'DAB2', 'score': 11.5}, {'connected_gene': 'LIFR', 'score': 5.64}, {'connected_gene': 'C9', 'score': 0.44}]
chr5 GH05I039330 39330895 39333536 0.38 [{'connected_gene': 'DAB2', 'score': 10.47}, {'connected_gene': 'FYB1', 'score': 9.99}, {'connected_gene': 'C9', 'score': 7.39}]
chr5 GH05I039543 39543229 39544148 1.38 [{'connected_gene': 'DAB2', 'score': 11.29}, {'connected_gene': 'C9', 'score': 11.24}, {'connected_gene': 'FYB1', 'score': 1.3}, {'connected_gene': 'LINC02104', 'score': 0.34}, {'connected_gene': 'CCDC11P1', 'score': 0.31}]
chr5 GH05I039523 39523560 39528235 1.41 [{'connected_gene': 'DAB2', 'score': 11.43}, {'connected_gene': 'C9', 'score': 11.36}, {'connected_gene': 'ENSG00000251189', 'score': 6.21}, {'connected_gene': 'FYB1', 'score': 2.51}, {'connected_gene': 'LINC02104', 'score': 0.44}, {'connected_gene': 'CCDC11P1', 'score': 0.25}]
chr5 GH05I039547 39547377 39548224 1.09 [{'connected_gene': 'DAB2', 'score': 11.47}, {'connected_gene': 'C9', 'score': 11.43}, {'connected_gene': 'FYB1', 'score': 9.38}, {'connected_gene': 'CCDC11P1', 'score': 0.34}, {'connected_gene': 'LINC02104', 'score': 0.31}]
chr5 GH05I039418 39418370 39428197 2.45 [{'connected_gene': 'DAB2', 'score': 561.02}, {'connected_gene': 'C9', 'score': 550.77}, {'connected_gene': 'FYB1', 'score': 0.11}]
chr5 GH05I039412 39412765 39413728 0.77 [{'connected_gene': 'DAB2', 'score': 10.48}, {'connected_gene': 'C9', 'score': 0.39}, {'connected_gene': 'FYB1', 'score': 0.12}]
chr5 GH05I039415 39415107 39417221 0.2 [{'connected_gene': 'DAB2', 'score': 10.94}, {'connected_gene': 'C9', 'score': 0.44}, {'connected_gene': 'FYB1', 'score': 0.11}]
chr5 GH05I039410 39410677 39412496 1.3 [{'connected_gene': 'DAB2', 'score': 10.47}, {'connected_gene': 'C9', 'score': 0.39}, {'connected_gene': 'FYB1', 'score': 0.12}]
chr5 GH05I039404 39404481 39407212 0.31 [{'connected_gene': 'DAB2', 'score': 11.96}, {'connected_gene': 'C9', 'score': 0.37}, {'connected_gene': 'FYB1', 'score': 0.12}]
chr5 GH05I039533 39533093 39535247 0.4 [{'connected_gene': 'DAB2', 'score': 12.15}, {'connected_gene': 'C9', 'score': 12.1}, {'connected_gene': 'LINC02104', 'score': 0.39}, {'connected_gene': 'CCDC11P1', 'score': 0.28}]
chr5 GH05I039538 39538959 39540168 0.2 [{'connected_gene': 'DAB2', 'score': 10.73}, {'connected_gene': 'C9', 'score': 10.65}, {'connected_gene': 'LINC02104', 'score': 0.37}, {'connected_gene': 'CCDC11P1', 'score': 0.29}]
chr5 GH05I039493 39493891 39495251 0.76 [{'connected_gene': 'DAB2', 'score': 11.69}, {'connected_gene': 'C9', 'score': 11.6}, {'connected_gene': 'LINC02104', 'score': 0.31}]
chr5 GH05I039512 39512732 39514152 0.89 [{'connected_gene': 'DAB2', 'score': 10.96}, {'connected_gene': 'C9', 'score': 10.48}, {'connected_gene': 'LINC02104', 'score': 0.44}]
chr5 GH05I039500 39500007 39504075 1.04 [{'connected_gene': 'DAB2', 'score': 11.67}, {'connected_gene': 'C9', 'score': 11.58}, {'connected_gene': 'LINC02104', 'score': 0.37}]
chr5 GH05I039504 39504949 39507359 0.4 [{'connected_gene': 'DAB2', 'score': 11.21}, {'connected_gene': 'C9', 'score': 11.12}, {'connected_gene': 'LINC02104', 'score': 0.39}]
chr5 GH05I039486 39486178 39486186 0.23 [{'connected_gene': 'DAB2', 'score': 11.19}, {'connected_gene': 'C9', 'score': 10.95}, {'connected_gene': 'LINC02104', 'score': 0.29}]
chr5 GH05I039580 39580824 39581298 0.38 [{'connected_gene': 'DAB2', 'score': 11.28}, {'connected_gene': 'C9', 'score': 11.26}, {'connected_gene': 'CCDC11P1', 'score': 0.44}, {'connected_gene': 'INTS6P1', 'score': 0.11}]
chr5 GH05I039436 39436965 39439343 1.28 [{'connected_gene': 'DAB2', 'score': 11.52}, {'connected_gene': 'C9', 'score': 0.39}]
chr5 GH05I039442 39441079 39441228 0.63 [{'connected_gene': 'DAB2', 'score': 11.02}, {'connected_gene': 'C9', 'score': 0.37}]
chr5 GH05I039446 39446115 39449155 1.08 [{'connected_gene': 'DAB2', 'score': 0.39}, {'connected_gene': 'C9', 'score': 0.34}]
chr5 GH05I039460 39460619 39461621 0.51 [{'connected_gene': 'DAB2', 'score': 550.77}, {'connected_gene': 'C9', 'score': 0.28}]
chr5 GH05I039459 39459959 39460108 0.2 [{'connected_gene': 'DAB2', 'score': 0.77}, {'connected_gene': 'C9', 'score': 0.28}]
chr5 GH05I039462 39462299 39462448 0.2 [{'connected_gene': 'DAB2', 'score': 550.77}, {'connected_gene': 'LINC02104', 'score': 0.22}]
chr5 GH05I039464 39464239 39464388 0.2 [{'connected_gene': 'DAB2', 'score': 0.77}, {'connected_gene': 'LINC02104', 'score': 0.22}]
chr5 GH05I039466 39466019 39466168 0.2 [{'connected_gene': 'DAB2', 'score': 0.77}, {'connected_gene': 'LINC02104', 'score': 0.23}]
chr5 GH05I039521 39521844 39522942 0.31 [{'connected_gene': 'LINC02104', 'score': 550.77}, {'connected_gene': 'DAB2', 'score': 11.43}, {'connected_gene': 'C9', 'score': 11.37}, {'connected_gene': 'CCDC11P1', 'score': 0.23}]
chr5 GH05I039516 39516424 39521281 1.42 [{'connected_gene': 'LINC02104', 'score': 550.77}, {'connected_gene': 'DAB2', 'score': 12.93}, {'connected_gene': 'C9', 'score': 11.37}]
chr5 GH05I039168 39168776 39172556 0.46 [{'connected_gene': 'GOLGA5P1', 'score': 550.77}, {'connected_gene': 'FYB1', 'score': 21.96}, {'connected_gene': 'C9', 'score': 9.03}, {'connected_gene': 'DAB2', 'score': 9.02}, {'connected_gene': 'GC05P039191', 'score': 0.34}]