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
ENST00000272252 [[38893051, 38893493], [38903053, 38903208], [38908421, 38908628], [38916954, 38917036], [38956697, 38956839], [38958876, 38959051], [38960629, 38961910]] [[38893303, 38893493], [38903053, 38903208], [38908421, 38908628], [38916954, 38917036], [38956697, 38956839], [38958876, 38959051], [38960629, 38960707]]
ENST00000410063 [[38893258, 38893493], [38956697, 38956839], [38958876, 38959051], [38960629, 38961100]] [[38893303, 38893493], [38956697, 38956839], [38958876, 38959051], [38960629, 38960707]]
ENST00000444351 [[38893384, 38893493], [38903053, 38903208], [38908421, 38908628], [38916954, 38917036], [38925507, 38925578], [38956697, 38956839], [38958876, 38958944]] [[38893384, 38893493], [38903053, 38903208], [38908421, 38908628], [38916954, 38917036], [38925507, 38925539]]
ENST00000434934 [[38908436, 38908628], [38916954, 38917036], [38956697, 38956839], [38958876, 38959051], [38968246, 38968379]] [[38908436, 38908628], [38916954, 38917036], [38956697, 38956839], [38958876, 38959051], [38968246, 38968312]]
ENST00000427858 [[38893222, 38893493], [38903053, 38903208], [38907201, 38907303], [38908421, 38908490]] [[38893303, 38893493], [38903053, 38903208], [38907201, 38907291]]
NM_138801 [[38893051, 38893493], [38903053, 38903208], [38908421, 38908628], [38916954, 38917036], [38956697, 38956839], [38958876, 38959051], [38960629, 38961909]] [[38893303, 38893493], [38903053, 38903208], [38908421, 38908628], [38916954, 38917036], [38956697, 38956839], [38958876, 38959051], [38960629, 38960707]]
Promoter
Chrom Start End Description
chr2 38893047 38893068 CAGE_peak_2_at_GALM_5end
chr2 38893208 38893266 CAGE_peak_1_at_GALM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I038598 38598144 38604383 2.31 [{'connected_gene': 'HNRNPLL', 'score': 550.77}, {'connected_gene': 'ENSG00000235586', 'score': 550.77}, {'connected_gene': 'PIR45803', 'score': 550.77}, {'connected_gene': 'SRSF7', 'score': 13.62}, {'connected_gene': 'DHX57', 'score': 12.13}, {'connected_gene': 'LOC101929596', 'score': 4.59}, {'connected_gene': 'GALM', 'score': 4.35}, {'connected_gene': 'GC02M038560', 'score': 0.28}]
chr2 GH02I038681 38681851 38683465 0.51 [{'connected_gene': 'HNRNPLL', 'score': 10.97}, {'connected_gene': 'ENSG00000235586', 'score': 10.96}, {'connected_gene': 'GALM', 'score': 7.75}, {'connected_gene': 'ARHGEF33', 'score': 4.52}, {'connected_gene': 'ENSG00000232518', 'score': 0.39}, {'connected_gene': 'SRSF7', 'score': 0.2}]
chr2 GH02I038626 38626188 38627179 0.56 [{'connected_gene': 'HNRNPLL', 'score': 12.76}, {'connected_gene': 'ENSG00000235586', 'score': 12.73}, {'connected_gene': 'GALM', 'score': 12.72}, {'connected_gene': 'ENSG00000232518', 'score': 12.7}, {'connected_gene': 'ENSG00000271443', 'score': 4.74}]
chr2 GH02I038658 38658160 38658886 0.57 [{'connected_gene': 'HNRNPLL', 'score': 12.08}, {'connected_gene': 'ENSG00000235586', 'score': 12.07}, {'connected_gene': 'GALM', 'score': 0.44}]
chr2 GH02I038622 38622159 38622800 0.86 [{'connected_gene': 'HNRNPLL', 'score': 0.37}, {'connected_gene': 'GALM', 'score': 0.26}]
chr2 GH02I038777 38777457 38779439 1.99 [{'connected_gene': 'GEMIN6', 'score': 550.31}, {'connected_gene': 'GALM', 'score': 7.0}, {'connected_gene': 'LOC100529111', 'score': 0.44}, {'connected_gene': 'ASS1P2', 'score': 0.29}]
chr2 GH02I038749 38749199 38752720 2.34 [{'connected_gene': 'SRSF7', 'score': 626.52}, {'connected_gene': 'GEMIN6', 'score': 550.77}, {'connected_gene': 'SOS1', 'score': 22.63}, {'connected_gene': 'DHX57', 'score': 13.9}, {'connected_gene': 'ARHGEF33', 'score': 12.1}, {'connected_gene': 'GALM', 'score': 7.48}, {'connected_gene': 'ASS1P2', 'score': 6.64}, {'connected_gene': 'LOC728730', 'score': 4.33}, {'connected_gene': 'ENSG00000232518', 'score': 0.18}]
chr2 GH02I038792 38792757 38795343 0.72 [{'connected_gene': 'SRSF7', 'score': 11.45}, {'connected_gene': 'GEMIN6', 'score': 11.45}, {'connected_gene': 'ENSG00000225284', 'score': 10.8}, {'connected_gene': 'GALM', 'score': 6.5}, {'connected_gene': 'ASS1P2', 'score': 6.31}, {'connected_gene': 'LOC100529111', 'score': 0.34}]
chr2 GH02I038540 38540737 38544143 1.47 [{'connected_gene': 'SRSF7', 'score': 19.17}, {'connected_gene': 'SOS1', 'score': 17.5}, {'connected_gene': 'DHX57', 'score': 13.78}, {'connected_gene': 'ENSG00000235586', 'score': 11.52}, {'connected_gene': 'HNRNPLL', 'score': 11.5}, {'connected_gene': 'ENSG00000232518', 'score': 10.88}, {'connected_gene': 'GALM', 'score': 10.88}, {'connected_gene': 'MAP4K3', 'score': 10.63}, {'connected_gene': 'ENSG00000252473', 'score': 9.8}, {'connected_gene': 'CYP1B1', 'score': 9.69}, {'connected_gene': 'MORN2', 'score': 9.56}, {'connected_gene': 'LOC101929596', 'score': 4.89}, {'connected_gene': 'ENSG00000271443', 'score': 0.44}, {'connected_gene': 'GC02M038560', 'score': 0.34}]
chr2 GH02I038726 38726039 38726188 0.62 [{'connected_gene': 'SRSF7', 'score': 0.31}, {'connected_gene': 'ENSG00000232518', 'score': 0.23}, {'connected_gene': 'GALM', 'score': 0.21}]
chr2 GH02I038642 38642062 38645080 1.37 [{'connected_gene': 'SRSF7', 'score': 15.58}, {'connected_gene': 'LOC101929596', 'score': 4.76}, {'connected_gene': 'GALM', 'score': 0.34}, {'connected_gene': 'HNRNPLL', 'score': 0.28}]
chr2 GH02I038432 38432441 38433940 1.36 [{'connected_gene': 'ATL2', 'score': 22.23}, {'connected_gene': 'LOC101929596', 'score': 17.63}, {'connected_gene': 'SOS1', 'score': 11.63}, {'connected_gene': 'GALM', 'score': 10.45}, {'connected_gene': 'ENSG00000232518', 'score': 10.45}, {'connected_gene': 'DHX57', 'score': 10.41}, {'connected_gene': 'LINC01883', 'score': 0.77}, {'connected_gene': 'RPLP0P6', 'score': 0.25}, {'connected_gene': 'GC02M038108', 'score': 0.22}]
chr2 GH02I038754 38754001 38755200 0.51 [{'connected_gene': 'ASS1P2', 'score': 6.89}, {'connected_gene': 'GALM', 'score': 6.36}, {'connected_gene': 'DHX57', 'score': 5.21}, {'connected_gene': 'ENSG00000229160', 'score': 4.48}, {'connected_gene': 'GEMIN6', 'score': 0.77}, {'connected_gene': 'TTC39DP', 'score': 0.44}]
chr2 GH02I038201 38201152 38204544 0.63 [{'connected_gene': 'CYP1B1', 'score': 16.01}, {'connected_gene': 'GALM', 'score': 10.51}, {'connected_gene': 'ENSG00000232518', 'score': 10.51}, {'connected_gene': 'ATL2', 'score': 5.06}, {'connected_gene': 'ENSG00000273006', 'score': 0.44}, {'connected_gene': 'RPL7P12', 'score': 0.31}, {'connected_gene': 'LOC102723739', 'score': 0.28}, {'connected_gene': 'CYP1B1-AS1', 'score': 0.13}, {'connected_gene': 'GC02M038108', 'score': 0.06}]
chr2 GH02I039630 39630754 39633963 0.75 [{'connected_gene': 'TMEM178A', 'score': 11.74}, {'connected_gene': 'LOC728730', 'score': 4.84}, {'connected_gene': 'GALM', 'score': 4.74}, {'connected_gene': 'GC02P039595', 'score': 0.28}]
chr2 GH02I038709 38709103 38710273 0.91 [{'connected_gene': 'GALM', 'score': 20.18}, {'connected_gene': 'ENSG00000232518', 'score': 12.4}, {'connected_gene': 'ENSG00000235586', 'score': 11.96}, {'connected_gene': 'HNRNPLL', 'score': 11.96}, {'connected_gene': 'SRSF7', 'score': 0.26}]
chr2 GH02I038701 38701957 38702914 1.09 [{'connected_gene': 'GALM', 'score': 16.45}, {'connected_gene': 'ENSG00000232518', 'score': 12.37}, {'connected_gene': 'HNRNPLL', 'score': 11.44}, {'connected_gene': 'ENSG00000235586', 'score': 11.44}, {'connected_gene': 'SRSF7', 'score': 0.25}]
chr2 GH02I038696 38696353 38698859 0.82 [{'connected_gene': 'GALM', 'score': 21.36}, {'connected_gene': 'ENSG00000232518', 'score': 12.17}, {'connected_gene': 'HNRNPLL', 'score': 11.54}, {'connected_gene': 'ENSG00000235586', 'score': 11.54}, {'connected_gene': 'SRSF7', 'score': 0.23}]
chr2 GH02I038731 38731426 38732691 0.87 [{'connected_gene': 'GALM', 'score': 16.09}, {'connected_gene': 'HNRNPLL', 'score': 12.79}, {'connected_gene': 'ENSG00000235586', 'score': 12.78}, {'connected_gene': 'ENSG00000232518', 'score': 11.5}, {'connected_gene': 'SRSF7', 'score': 0.37}]
chr2 GH02I038715 38715600 38716981 0.72 [{'connected_gene': 'GALM', 'score': 18.57}, {'connected_gene': 'ENSG00000232518', 'score': 12.39}, {'connected_gene': 'ENSG00000235586', 'score': 12.2}, {'connected_gene': 'HNRNPLL', 'score': 12.2}, {'connected_gene': 'SRSF7', 'score': 0.28}]
chr2 GH02I038699 38699245 38701655 0.43 [{'connected_gene': 'GALM', 'score': 16.59}, {'connected_gene': 'ENSG00000232518', 'score': 12.39}, {'connected_gene': 'ENSG00000235586', 'score': 11.44}, {'connected_gene': 'HNRNPLL', 'score': 11.44}, {'connected_gene': 'SRSF7', 'score': 0.23}]
chr2 GH02I038634 38634739 38635000 1.04 [{'connected_gene': 'GALM', 'score': 0.29}, {'connected_gene': 'HNRNPLL', 'score': 0.29}]
chr2 GH02I038663 38663800 38664200 0.97 [{'connected_gene': 'GALM', 'score': 550.77}, {'connected_gene': 'HNRNPLL', 'score': 0.21}]
chr2 GH02I038607 38607819 38607968 0.79 [{'connected_gene': 'GALM', 'score': 11.96}, {'connected_gene': 'ENSG00000232518', 'score': 11.95}, {'connected_gene': 'HNRNPLL', 'score': 0.77}]
chr2 GH02I038581 38581553 38582288 0.74 [{'connected_gene': 'GALM', 'score': 11.63}, {'connected_gene': 'ENSG00000232518', 'score': 11.62}, {'connected_gene': 'ENSG00000235586', 'score': 0.37}, {'connected_gene': 'GC02M038560', 'score': 0.37}, {'connected_gene': 'HNRNPLL', 'score': 0.34}]
chr2 GH02I038652 38652129 38655126 1.38 [{'connected_gene': 'GALM', 'score': 0.39}, {'connected_gene': 'HNRNPLL', 'score': 0.23}]
chr2 GH02I038611 38611400 38611818 1.31 [{'connected_gene': 'GALM', 'score': 12.04}, {'connected_gene': 'ENSG00000232518', 'score': 12.03}, {'connected_gene': 'HNRNPLL', 'score': 0.44}]
chr2 GH02I038612 38612601 38614489 1.42 [{'connected_gene': 'GALM', 'score': 2.73}, {'connected_gene': 'HNRNPLL', 'score': 0.44}]
chr2 GH02I039620 39620001 39620600 0.75 [{'connected_gene': 'GALM', 'score': 4.87}, {'connected_gene': 'LOC728730', 'score': 4.73}, {'connected_gene': 'GC02P039595', 'score': 0.34}, {'connected_gene': 'TMEM178A', 'score': 0.26}]
chr2 GH02I038689 38689172 38694542 1.36 [{'connected_gene': 'GALM', 'score': 21.67}, {'connected_gene': 'SRSF7', 'score': 14.22}, {'connected_gene': 'ENSG00000232518', 'score': 12.49}, {'connected_gene': 'ENSG00000252473', 'score': 11.59}, {'connected_gene': 'HNRNPLL', 'score': 11.57}, {'connected_gene': 'SOS1', 'score': 11.57}, {'connected_gene': 'ENSG00000235586', 'score': 11.56}, {'connected_gene': 'RPLP0P6', 'score': 10.55}]
chr2 GH02I038722 38722119 38723944 1.26 [{'connected_gene': 'GALM', 'score': 5.34}, {'connected_gene': 'SRSF7', 'score': 2.83}, {'connected_gene': 'HNRNPLL', 'score': 1.47}, {'connected_gene': 'ENSG00000232518', 'score': 0.23}]
chr2 GH02I038664 38664964 38668500 2.54 [{'connected_gene': 'GALM', 'score': 566.79}, {'connected_gene': 'SRSF7', 'score': 19.36}, {'connected_gene': 'ENSG00000273035', 'score': 15.46}, {'connected_gene': 'MAP4K3', 'score': 12.56}, {'connected_gene': 'CDKL4', 'score': 10.1}, {'connected_gene': 'HNRNPLL', 'score': 3.5}, {'connected_gene': 'ATL2', 'score': 1.89}, {'connected_gene': 'ENSG00000232518', 'score': 0.77}]
chr2 GH02I038586 38586011 38589432 0.56 [{'connected_gene': 'GALM', 'score': 11.68}, {'connected_gene': 'ENSG00000232518', 'score': 11.67}, {'connected_gene': 'SRSF7', 'score': 11.42}, {'connected_gene': 'GEMIN6', 'score': 11.42}, {'connected_gene': 'LOC101929596', 'score': 4.32}, {'connected_gene': 'ENSG00000235586', 'score': 0.39}, {'connected_gene': 'HNRNPLL', 'score': 0.37}, {'connected_gene': 'GC02M038560', 'score': 0.31}]
chr2 GH02I038679 38679051 38680858 0.31 [{'connected_gene': 'GALM', 'score': 9.05}, {'connected_gene': 'ENSG00000232518', 'score': 0.44}, {'connected_gene': 'SRSF7', 'score': 0.19}]
chr2 GH02I038789 38789573 38790530 0.56 [{'connected_gene': 'GALM', 'score': 7.08}, {'connected_gene': 'LOC100529111', 'score': 0.34}, {'connected_gene': 'ASS1P2', 'score': 0.34}]
chr2 GH02I038719 38719914 38721963 1.11 [{'connected_gene': 'GALM', 'score': 5.9}, {'connected_gene': 'ARHGEF33', 'score': 5.3}, {'connected_gene': 'SRSF7', 'score': 0.29}, {'connected_gene': 'ENSG00000232518', 'score': 0.25}]
chr2 GH02I038168 38168255 38169995 1.18 [{'connected_gene': 'RNU6-951P', 'score': 11.72}, {'connected_gene': 'CYP1B1', 'score': 10.79}, {'connected_gene': 'GALM', 'score': 6.61}, {'connected_gene': 'CYP1B1-AS1', 'score': 6.14}, {'connected_gene': 'ATL2', 'score': 5.35}, {'connected_gene': 'CDC42EP3', 'score': 3.39}, {'connected_gene': 'GC02M038149', 'score': 0.37}, {'connected_gene': 'ENSG00000273006', 'score': 0.34}, {'connected_gene': 'GC02M038108', 'score': 0.06}]
chr2 GH02I038619 38619348 38620568 1.38 [{'connected_gene': 'LOC101929596', 'score': 5.61}, {'connected_gene': 'HNRNPLL', 'score': 0.37}, {'connected_gene': 'GALM', 'score': 0.25}]
chr2 GH02I038435 38435819 38437403 1.1 [{'connected_gene': 'LOC101929596', 'score': 17.93}, {'connected_gene': 'ATL2', 'score': 11.23}, {'connected_gene': 'GALM', 'score': 10.45}, {'connected_gene': 'ENSG00000232518', 'score': 10.45}, {'connected_gene': 'LINC01883', 'score': 0.44}, {'connected_gene': 'RPLP0P6', 'score': 0.25}, {'connected_gene': 'GC02M038108', 'score': 0.23}]
chr2 GH02I038661 38661471 38661629 0.22 [{'connected_gene': 'ARHGEF33', 'score': 3.03}, {'connected_gene': 'GALM', 'score': 0.77}, {'connected_gene': 'HNRNPLL', 'score': 0.22}]
chr2 GH02I038552 38552359 38552508 0.85 [{'connected_gene': 'ENSG00000235586', 'score': 11.5}, {'connected_gene': 'HNRNPLL', 'score': 11.49}, {'connected_gene': 'SRSF7', 'score': 11.23}, {'connected_gene': 'GEMIN6', 'score': 11.23}, {'connected_gene': 'GALM', 'score': 11.09}, {'connected_gene': 'ENSG00000232518', 'score': 11.09}, {'connected_gene': 'ATL2', 'score': 9.74}, {'connected_gene': 'GC02M038560', 'score': 0.39}, {'connected_gene': 'ENSG00000271443', 'score': 0.37}]
chr2 GH02I038740 38740499 38742319 0.72 [{'connected_gene': 'ENSG00000235586', 'score': 11.83}, {'connected_gene': 'HNRNPLL', 'score': 11.83}, {'connected_gene': 'SRSF7', 'score': 0.39}, {'connected_gene': 'ENSG00000232518', 'score': 0.2}, {'connected_gene': 'GALM', 'score': 0.18}]
chr2 GH02I038737 38737401 38737800 0.64 [{'connected_gene': 'ENSG00000235586', 'score': 11.83}, {'connected_gene': 'HNRNPLL', 'score': 11.83}, {'connected_gene': 'GALM', 'score': 4.89}, {'connected_gene': 'SRSF7', 'score': 0.39}, {'connected_gene': 'ENSG00000232518', 'score': 0.2}]
chr2 GH02I038684 38684600 38686272 0.88 [{'connected_gene': 'ENSG00000235586', 'score': 10.96}, {'connected_gene': 'HNRNPLL', 'score': 10.96}, {'connected_gene': 'GALM', 'score': 9.01}, {'connected_gene': 'ENSG00000232518', 'score': 0.39}, {'connected_gene': 'SRSF7', 'score': 0.2}]
chr2 GH02I038624 38624674 38625888 0.57 [{'connected_gene': 'ENSG00000235586', 'score': 12.76}, {'connected_gene': 'HNRNPLL', 'score': 12.76}, {'connected_gene': 'GALM', 'score': 12.25}, {'connected_gene': 'ENSG00000232518', 'score': 12.23}, {'connected_gene': 'ENSG00000271443', 'score': 5.05}]
chr2 GH02I038671 38671980 38672606 0.43 [{'connected_gene': 'ENSG00000232518', 'score': 550.77}, {'connected_gene': 'GALM', 'score': 8.61}, {'connected_gene': 'SRSF7', 'score': 0.18}]
chr2 GH02I038676 38676875 38678872 0.89 [{'connected_gene': 'ENSG00000232518', 'score': 0.44}, {'connected_gene': 'GALM', 'score': 0.39}, {'connected_gene': 'SRSF7', 'score': 0.19}]
chr2 GH02I038536 38535086 38535225 0.49 [{'connected_gene': 'ENSG00000271443', 'score': 550.77}, {'connected_gene': 'ENSG00000232518', 'score': 10.87}, {'connected_gene': 'GALM', 'score': 10.87}, {'connected_gene': 'CYP1B1', 'score': 9.69}, {'connected_gene': 'LOC101929596', 'score': 0.37}]
chr2 GH02I038532 38532995 38533948 0.75 [{'connected_gene': 'ENSG00000232518', 'score': 10.87}, {'connected_gene': 'GALM', 'score': 10.87}, {'connected_gene': 'CYP1B1', 'score': 9.7}, {'connected_gene': 'ENSG00000271443', 'score': 6.89}, {'connected_gene': 'LOC101929596', 'score': 5.54}]
chr2 GH02I038535 38535801 38536800 1.47 [{'connected_gene': 'ENSG00000271443', 'score': 550.77}, {'connected_gene': 'GALM', 'score': 10.88}, {'connected_gene': 'ENSG00000232518', 'score': 10.87}, {'connected_gene': 'CYP1B1', 'score': 9.69}, {'connected_gene': 'GC02M038560', 'score': 0.31}]
chr2 GH02I038669 38669926 38671871 0.31 [{'connected_gene': 'ENSG00000232518', 'score': 550.77}, {'connected_gene': 'GALM', 'score': 17.09}, {'connected_gene': 'ARHGEF33', 'score': 4.05}]

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