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
ENST00000506823 [[172734653, 172735141], [172735562, 172735869], [173150806, 173150915], [173232764, 173232903], [173269673, 173269840], [173730511, 173730697], [173734690, 173734874], [173803940, 173804058], [173852311, 173852419], [173873187, 173873409], [173930328, 173930445], [173942626, 173942776], [173961083, 173962710]] [[172735731, 172735869], [173150806, 173150915], [173232764, 173232903], [173269673, 173269840], [173730511, 173730697], [173734690, 173734874], [173803940, 173804058], [173852311, 173852419], [173873187, 173873409], [173930328, 173930445], [173942626, 173942776], [173961083, 173961251]]
ENST00000508122 [[172973595, 172973682], [173150806, 173150915], [173232764, 173232903], [173269673, 173269840], [173730511, 173730697], [173734690, 173734874], [173803940, 173804058], [173852311, 173852419], [173873187, 173873409], [173930328, 173930445], [173942626, 173942776], [173961083, 173961251]] [[172973595, 172973682], [173150806, 173150915], [173232764, 173232903], [173269673, 173269840], [173730511, 173730697], [173734690, 173734874], [173803940, 173804058], [173852311, 173852419], [173873187, 173873409], [173930328, 173930445], [173942626, 173942776], [173961083, 173961251]]
ENST00000457021 [[173187304, 173187500], [173232764, 173232903], [173269673, 173269840], [173346434, 173346477], [173466799, 173466899], [173587935, 173590358]] None
ENST00000511251 [[172733404, 172735141], [172735562, 172736730]] [[172735731, 172735917]]
ENST00000504379 [[172734673, 172735141], [172735562, 172735869], [172737188, 172737342]] None
ENST00000513061 [[172734673, 172735141], [172735562, 172735869], [172737144, 172737504]] None
NM_001034845 [[172734574, 172735141], [172735562, 172735869], [173150806, 173150915], [173232764, 173232903], [173269673, 173269840], [173730511, 173730697], [173734690, 173734874], [173803940, 173804058], [173852311, 173852419], [173873187, 173873409], [173930328, 173930445], [173942626, 173942776], [173961083, 173961559]] [[172735731, 172735869], [173150806, 173150915], [173232764, 173232903], [173269673, 173269840], [173730511, 173730697], [173734690, 173734874], [173803940, 173804058], [173852311, 173852419], [173873187, 173873409], [173930328, 173930445], [173942626, 173942776], [173961083, 173961251]]
Promoter
Chrom Start End Description
chr4 172734548 172734562 CAGE_peak_1_at_GALNTL6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I171852 171852852 171853177 0.22 [{'connected_gene': 'GALNTL6', 'score': 3.19}, {'connected_gene': 'GC04P171872', 'score': 0.37}, {'connected_gene': 'LOC441052', 'score': 0.28}]
chr7 GH07I071268 71267589 71268145 0.38 [{'connected_gene': 'GALNT17', 'score': 4.89}, {'connected_gene': 'PIR52487', 'score': 0.44}, {'connected_gene': 'GC07P071241', 'score': 0.31}, {'connected_gene': 'MIR3914-2', 'score': 0.28}]
chr7 GH07I071273 71273192 71274429 0.2 [{'connected_gene': 'GALNT17', 'score': 5.29}, {'connected_gene': 'PIR52487', 'score': 0.37}, {'connected_gene': 'MIR3914-2', 'score': 0.29}, {'connected_gene': 'GC07P071241', 'score': 0.29}]
chr7 GH07I071236 71236276 71236771 0.4 [{'connected_gene': 'GALNT17', 'score': 5.2}, {'connected_gene': 'GC07P071241', 'score': 0.44}, {'connected_gene': 'PIR45228', 'score': 0.15}]
chr7 GH07I071208 71208599 71208776 0.2 [{'connected_gene': 'GALNT17', 'score': 26.15}, {'connected_gene': 'GC07P071241', 'score': 0.29}, {'connected_gene': 'PIR45228', 'score': 0.2}]
chr7 GH07I071238 71236842 71237511 0.2 [{'connected_gene': 'GALNT17', 'score': 8.13}, {'connected_gene': 'GC07P071241', 'score': 0.77}, {'connected_gene': 'PIR45228', 'score': 0.15}]
chr7 GH07I071224 71224557 71224781 0.2 [{'connected_gene': 'GALNT17', 'score': 42.41}, {'connected_gene': 'GC07P071241', 'score': 0.37}, {'connected_gene': 'PIR45228', 'score': 0.18}]
chr7 GH07I071209 71209204 71209370 0.2 [{'connected_gene': 'GALNT17', 'score': 12.61}, {'connected_gene': 'GC07P071241', 'score': 0.29}, {'connected_gene': 'PIR45228', 'score': 0.2}]
chr7 GH07I071200 71200113 71200380 0.2 [{'connected_gene': 'GALNT17', 'score': 10.66}, {'connected_gene': 'GC07P071241', 'score': 0.26}, {'connected_gene': 'PIR45228', 'score': 0.22}]
chr7 GH07I071254 71254702 71256308 0.2 [{'connected_gene': 'GALNT17', 'score': 5.84}, {'connected_gene': 'PIR52487', 'score': 0.77}, {'connected_gene': 'PIR44568', 'score': 0.44}, {'connected_gene': 'GC07P071241', 'score': 0.39}]
chr7 GH07I071223 71222157 71222384 0.2 [{'connected_gene': 'GALNT17', 'score': 11.22}, {'connected_gene': 'GC07P071241', 'score': 0.37}, {'connected_gene': 'PIR45228', 'score': 0.18}]
chr7 GH07I071186 71186311 71186904 0.2 [{'connected_gene': 'GALNT17', 'score': 11.86}, {'connected_gene': 'PIR45228', 'score': 0.25}, {'connected_gene': 'GC07P071241', 'score': 0.22}]
chr7 GH07I071210 71210571 71210834 0.2 [{'connected_gene': 'GALNT17', 'score': 15.29}, {'connected_gene': 'GC07P071241', 'score': 0.29}, {'connected_gene': 'PIR45228', 'score': 0.19}]
chr7 GH07I071222 71222531 71222741 0.2 [{'connected_gene': 'GALNT17', 'score': 41.1}, {'connected_gene': 'GC07P071241', 'score': 0.37}, {'connected_gene': 'PIR45228', 'score': 0.18}]
chr7 GH07I071237 71237793 71240206 0.71 [{'connected_gene': 'GALNT17', 'score': 4.27}, {'connected_gene': 'GC07P071241', 'score': 0.77}, {'connected_gene': 'PIR45228', 'score': 0.15}]
chr7 GH07I071221 71221930 71222093 0.2 [{'connected_gene': 'GALNT17', 'score': 11.23}, {'connected_gene': 'GC07P071241', 'score': 0.37}, {'connected_gene': 'PIR45228', 'score': 0.18}]
chr7 GH07I071220 71220104 71221055 0.74 [{'connected_gene': 'GALNT17', 'score': 31.81}, {'connected_gene': 'GC07P071241', 'score': 0.34}, {'connected_gene': 'PIR45228', 'score': 0.18}]
chr7 GH07I070966 70966290 70966424 0.22 [{'connected_gene': 'GALNT17', 'score': 1.79}, {'connected_gene': 'GC07P070979', 'score': 0.39}, {'connected_gene': 'GC07P070980', 'score': 0.39}, {'connected_gene': 'PIR49423', 'score': 0.39}, {'connected_gene': 'GC07M070774', 'score': 0.14}]
chr7 GH07I071225 71221405 71221781 0.31 [{'connected_gene': 'GALNT17', 'score': 42.87}, {'connected_gene': 'GC07P071241', 'score': 0.34}, {'connected_gene': 'PIR45228', 'score': 0.18}]
chr7 GH07I070919 70919174 70920318 0.43 [{'connected_gene': 'GALNT17', 'score': 10.32}, {'connected_gene': 'GC07P070979', 'score': 0.22}, {'connected_gene': 'GC07P070980', 'score': 0.22}, {'connected_gene': 'PIR49423', 'score': 0.22}, {'connected_gene': 'GC07M070774', 'score': 0.21}]
chr4 GH04I171812 171812801 171813000 0.43 [{'connected_gene': 'LOC441052', 'score': 550.77}, {'connected_gene': 'GALNTL6', 'score': 550.77}]
chr4 GH04I171813 171813414 171813473 0.73 [{'connected_gene': 'LOC441052', 'score': 550.77}, {'connected_gene': 'GALNTL6', 'score': 550.77}]
chr7 GH07I071682 71682105 71683779 0.63 [{'connected_gene': 'RN7SKP75', 'score': 0.77}, {'connected_gene': 'GC07M071688', 'score': 0.77}, {'connected_gene': 'GC07M071606', 'score': 0.21}, {'connected_gene': 'GALNT17', 'score': 0.03}]
chr7 GH07I071651 71651784 71653048 0.31 [{'connected_gene': 'RN7SKP75', 'score': 0.29}, {'connected_gene': 'GC07M071606', 'score': 0.29}, {'connected_gene': 'GC07M071688', 'score': 0.29}, {'connected_gene': 'GALNT17', 'score': 0.03}]
chr4 GH04I171984 171984330 171984479 0.38 [{'connected_gene': 'LOC105377537', 'score': 0.25}, {'connected_gene': 'GC04P171872', 'score': 0.14}, {'connected_gene': 'GALNTL6', 'score': 0.09}]
chr4 GH04I172144 172143822 172144270 0.8 [{'connected_gene': 'LOC105377537', 'score': 0.14}, {'connected_gene': 'LOC100506133', 'score': 0.07}, {'connected_gene': 'GALNTL6', 'score': 0.06}]
chr4 GH04I172143 172143650 172143799 0.78 [{'connected_gene': 'LOC105377537', 'score': 0.14}, {'connected_gene': 'LOC100506133', 'score': 0.07}, {'connected_gene': 'GALNTL6', 'score': 0.06}]
chr4 GH04I172156 172156120 172156166 0.89 [{'connected_gene': 'LOC105377537', 'score': 0.13}, {'connected_gene': 'LOC100506133', 'score': 0.07}, {'connected_gene': 'GALNTL6', 'score': 0.05}]
chr4 GH04I172725 172725063 172727674 0.78 [{'connected_gene': 'LOC101928314', 'score': 550.77}, {'connected_gene': 'PIR36339', 'score': 0.06}, {'connected_gene': 'GALNTL6', 'score': 0.03}]
chr4 GH04I172650 172650949 172651916 0.2 [{'connected_gene': 'LOC101928314', 'score': 0.18}, {'connected_gene': 'PIR36339', 'score': 0.08}, {'connected_gene': 'GALNTL6', 'score': 0.03}]
chr4 GH04I172659 172659873 172660796 0.31 [{'connected_gene': 'LOC101928314', 'score': 0.2}, {'connected_gene': 'PIR36339', 'score': 0.08}, {'connected_gene': 'GALNTL6', 'score': 0.03}]
chr4 GH04I172390 172390105 172391042 0.56 [{'connected_gene': 'LOC100506133', 'score': 0.39}, {'connected_gene': 'PIR33445', 'score': 0.21}, {'connected_gene': 'GALNTL6', 'score': 0.03}]
chr4 GH04I172411 172411210 172411299 0.54 [{'connected_gene': 'LOC100506133', 'score': 0.29}, {'connected_gene': 'PIR33445', 'score': 0.26}, {'connected_gene': 'GALNTL6', 'score': 0.03}]
chr7 GH07I071285 71285864 71287625 0.2 [{'connected_gene': 'MIR3914-2', 'score': 0.34}, {'connected_gene': 'PIR52487', 'score': 0.31}, {'connected_gene': 'GC07P071241', 'score': 0.26}, {'connected_gene': 'GALNT17', 'score': 0.1}]
chr7 GH07I071303 71303288 71304324 0.2 [{'connected_gene': 'MIR3914-2', 'score': 0.77}, {'connected_gene': 'PIR52487', 'score': 0.25}, {'connected_gene': 'GC07P071241', 'score': 0.21}, {'connected_gene': 'GALNT17', 'score': 0.09}]
chr7 GH07I071307 71307402 71309525 0.4 [{'connected_gene': 'MIR3914-2', 'score': 550.77}, {'connected_gene': 'MIR3914-1', 'score': 550.77}, {'connected_gene': 'GC07M071358', 'score': 0.23}, {'connected_gene': 'GALNT17', 'score': 0.1}]
chr7 GH07I071328 71328914 71329930 0.2 [{'connected_gene': 'MIR3914-1', 'score': 0.34}, {'connected_gene': 'GC07M071358', 'score': 0.29}, {'connected_gene': 'GALNT17', 'score': 0.08}]
chr7 GH07I071313 71313665 71314404 0.2 [{'connected_gene': 'MIR3914-1', 'score': 0.44}, {'connected_gene': 'GC07M071358', 'score': 0.25}, {'connected_gene': 'GALNT17', 'score': 0.09}]
chr4 GH04I171879 171879560 171880954 0.66 [{'connected_gene': 'GC04P171872', 'score': 0.44}, {'connected_gene': 'GALNTL6', 'score': 0.2}, {'connected_gene': 'LOC105377537', 'score': 0.1}]
chr7 GH07I071558 71558685 71559631 0.2 [{'connected_gene': 'PIR53005', 'score': 0.29}, {'connected_gene': 'PIR43997', 'score': 0.21}, {'connected_gene': 'GALNT17', 'score': 0.04}]
chr7 GH07I071364 71364123 71365324 0.2 [{'connected_gene': 'GC07M071358', 'score': 0.77}, {'connected_gene': 'PIR41820', 'score': 0.39}, {'connected_gene': 'GALNT17', 'score': 0.07}]
chr7 GH07I071165 71165835 71165944 0.31 [{'connected_gene': 'PIR45228', 'score': 0.31}, {'connected_gene': 'GALNT17', 'score': 0.29}, {'connected_gene': 'GC07P071241', 'score': 0.18}]
chr7 GH07I071553 71553356 71553505 0.2 [{'connected_gene': 'PIR53005', 'score': 0.28}, {'connected_gene': 'PIR43997', 'score': 0.22}, {'connected_gene': 'GALNT17', 'score': 0.05}]
chr7 GH07I071205 71205422 71205673 0.2 [{'connected_gene': 'GC07P071241', 'score': 0.28}, {'connected_gene': 'PIR45228', 'score': 0.21}, {'connected_gene': 'GALNT17', 'score': 0.19}]
chr7 GH07I071219 71219758 71219977 0.2 [{'connected_gene': 'GC07P071241', 'score': 0.34}, {'connected_gene': 'PIR45228', 'score': 0.18}, {'connected_gene': 'GALNT17', 'score': 0.17}]
chr7 GH07I071470 71470067 71474816 0.51 [{'connected_gene': 'PIR59954', 'score': 0.44}, {'connected_gene': 'PIR41128', 'score': 0.37}, {'connected_gene': 'GALNT17', 'score': 0.05}]
chr7 GH07I071612 71612516 71616409 0.63 [{'connected_gene': 'GC07M071606', 'score': 0.44}, {'connected_gene': 'PIR53005', 'score': 0.34}, {'connected_gene': 'GALNT17', 'score': 0.04}]
chr7 GH07I071198 71198891 71199257 0.43 [{'connected_gene': 'GC07P071241', 'score': 0.26}, {'connected_gene': 'PIR45228', 'score': 0.22}, {'connected_gene': 'GALNT17', 'score': 0.2}]
chr7 GH07I071521 71521254 71522315 0.38 [{'connected_gene': 'PIR43997', 'score': 0.31}, {'connected_gene': 'PIR53005', 'score': 0.19}, {'connected_gene': 'GALNT17', 'score': 0.05}]
chr7 GH07I071132 71132535 71132684 0.31 [{'connected_gene': 'GC07M071130', 'score': 550.77}, {'connected_gene': 'GALNT17', 'score': 550.77}, {'connected_gene': 'PIR45228', 'score': 0.44}]
chr7 GH07I071461 71461435 71462457 0.31 [{'connected_gene': 'PIR59954', 'score': 550.77}, {'connected_gene': 'PIR54282', 'score': 0.34}, {'connected_gene': 'GC07P071439', 'score': 0.34}, {'connected_gene': 'GALNT17', 'score': 0.05}]
chr7 GH07I071463 71463941 71468264 0.63 [{'connected_gene': 'PIR59954', 'score': 0.77}, {'connected_gene': 'PIR41128', 'score': 0.34}, {'connected_gene': 'GALNT17', 'score': 0.06}]
chr4 GH04I172809 172809450 172809599 0.43 [{'connected_gene': 'GC04P172770', 'score': 0.28}, {'connected_gene': 'PIR59468', 'score': 0.1}, {'connected_gene': 'GALNTL6', 'score': 0.02}]
chr4 GH04I172786 172786601 172787555 0.48 [{'connected_gene': 'GC04P172770', 'score': 0.37}, {'connected_gene': 'PIR59468', 'score': 0.08}, {'connected_gene': 'GALNTL6', 'score': 0.02}]
chr7 GH07I071015 71015228 71016549 0.38 [{'connected_gene': 'GC07M071009', 'score': 0.44}, {'connected_gene': 'GALNT17', 'score': 0.13}]
chr7 GH07I071455 71455537 71460008 0.51 [{'connected_gene': 'PIR59954', 'score': 0.44}, {'connected_gene': 'PIR54282', 'score': 0.37}, {'connected_gene': 'GC07P071439', 'score': 0.37}, {'connected_gene': 'GALNT17', 'score': 0.05}]
chr4 GH04I172787 172786001 172786533 0.87 [{'connected_gene': 'GC04P172770', 'score': 0.37}, {'connected_gene': 'PIR59468', 'score': 0.08}, {'connected_gene': 'GALNTL6', 'score': 0.02}]
chr7 GH07I071486 71486405 71488622 0.63 [{'connected_gene': 'PIR41128', 'score': 550.77}, {'connected_gene': 'PIR59954', 'score': 0.34}, {'connected_gene': 'GALNT17', 'score': 0.05}]
chr7 GH07I071480 71480799 71482022 0.38 [{'connected_gene': 'PIR41128', 'score': 0.44}, {'connected_gene': 'PIR59954', 'score': 0.37}, {'connected_gene': 'GALNT17', 'score': 0.05}]
chr7 GH07I071146 71146355 71146504 0.2 [{'connected_gene': 'PIR45228', 'score': 0.44}, {'connected_gene': 'GALNT17', 'score': 0.39}, {'connected_gene': 'GC07P071241', 'score': 0.15}]
chr7 GH07I071133 71133801 71134000 0.2 [{'connected_gene': 'GC07M071130', 'score': 550.77}, {'connected_gene': 'GALNT17', 'score': 550.77}, {'connected_gene': 'PIR45228', 'score': 0.44}]
chr7 GH07I071511 71511576 71511725 0.46 [{'connected_gene': 'PIR43997', 'score': 0.37}, {'connected_gene': 'PIR53005', 'score': 0.18}, {'connected_gene': 'GALNT17', 'score': 0.05}]
chr7 GH07I071018 71018889 71021845 0.31 [{'connected_gene': 'GC07M071009', 'score': 0.39}, {'connected_gene': 'GALNT17', 'score': 0.14}]
chr7 GH07I071176 71176895 71177024 0.2 [{'connected_gene': 'PIR45228', 'score': 0.28}, {'connected_gene': 'GALNT17', 'score': 0.26}, {'connected_gene': 'GC07P071241', 'score': 0.21}]
chr7 GH07I071130 71130653 71132504 1.49 [{'connected_gene': 'GC07M071130', 'score': 550.77}, {'connected_gene': 'GALNT17', 'score': 550.77}, {'connected_gene': 'GC07M071009', 'score': 0.13}]
chr7 GH07I071134 71132755 71133144 0.31 [{'connected_gene': 'GC07M071130', 'score': 550.77}, {'connected_gene': 'GALNT17', 'score': 550.77}, {'connected_gene': 'PIR45228', 'score': 0.44}]
chr7 GH07I071447 71447856 71448005 0.2 [{'connected_gene': 'PIR54282', 'score': 0.44}, {'connected_gene': 'GC07P071439', 'score': 0.44}, {'connected_gene': 'PIR59954', 'score': 0.37}, {'connected_gene': 'GALNT17', 'score': 0.06}]
chr7 GH07I071617 71617690 71619281 0.38 [{'connected_gene': 'GC07M071606', 'score': 0.77}, {'connected_gene': 'PIR53005', 'score': 0.31}, {'connected_gene': 'GALNT17', 'score': 0.04}]
chr7 GH07I071497 71497032 71498353 0.31 [{'connected_gene': 'PIR43997', 'score': 0.77}, {'connected_gene': 'PIR53005', 'score': 0.16}, {'connected_gene': 'GALNT17', 'score': 0.05}]
chr7 GH07I071235 71235603 71235952 0.31 [{'connected_gene': 'GC07P071241', 'score': 0.44}, {'connected_gene': 'PIR45228', 'score': 0.15}, {'connected_gene': 'GALNT17', 'score': 0.15}]
chr7 GH07I071637 71637331 71638392 0.38 [{'connected_gene': 'GC07M071606', 'score': 0.37}, {'connected_gene': 'RN7SKP75', 'score': 0.25}, {'connected_gene': 'GC07M071688', 'score': 0.25}, {'connected_gene': 'GALNT17', 'score': 0.03}]
chr7 GH07I071636 71636229 71637003 0.68 [{'connected_gene': 'GC07M071606', 'score': 0.37}, {'connected_gene': 'RN7SKP75', 'score': 0.25}, {'connected_gene': 'GC07M071688', 'score': 0.25}, {'connected_gene': 'GALNT17', 'score': 0.03}]
chr7 GH07I071632 71632436 71634596 0.76 [{'connected_gene': 'GC07M071606', 'score': 0.39}, {'connected_gene': 'RN7SKP75', 'score': 0.23}, {'connected_gene': 'GC07M071688', 'score': 0.23}, {'connected_gene': 'GALNT17', 'score': 0.03}]
chr7 GH07I071630 71630636 71630785 0.2 [{'connected_gene': 'GC07M071606', 'score': 0.39}, {'connected_gene': 'RN7SKP75', 'score': 0.22}, {'connected_gene': 'GC07M071688', 'score': 0.22}, {'connected_gene': 'GALNT17', 'score': 0.04}]
chr7 GH07I071626 71626121 71626903 0.2 [{'connected_gene': 'GC07M071606', 'score': 0.44}, {'connected_gene': 'RN7SKP75', 'score': 0.22}, {'connected_gene': 'GC07M071688', 'score': 0.22}, {'connected_gene': 'GALNT17', 'score': 0.04}]
chr7 GH07I071267 71267101 71267289 0.2 [{'connected_gene': 'PIR52487', 'score': 0.44}, {'connected_gene': 'GC07P071241', 'score': 0.31}, {'connected_gene': 'MIR3914-2', 'score': 0.26}, {'connected_gene': 'GALNT17', 'score': 0.12}]
chr7 GH07I071348 71348572 71349405 0.31 [{'connected_gene': 'GC07M071358', 'score': 0.39}, {'connected_gene': 'MIR3914-1', 'score': 0.26}, {'connected_gene': 'GALNT17', 'score': 0.08}]
chr7 GH07I071359 71359597 71359969 0.22 [{'connected_gene': 'GC07M071358', 'score': 550.77}, {'connected_gene': 'MIR3914-1', 'score': 0.23}, {'connected_gene': 'GALNT17', 'score': 0.07}]
chr7 GH07I071343 71343975 71344124 0.2 [{'connected_gene': 'GC07M071358', 'score': 0.37}, {'connected_gene': 'MIR3914-1', 'score': 0.28}, {'connected_gene': 'GALNT17', 'score': 0.08}]

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