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
ENST00000557771 [[21756097, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771570, 21771702], [21775889, 21775995], [21778742, 21778766], [21779982, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790130], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819460]] [[21756135, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771570, 21771702], [21775889, 21775995], [21778742, 21778766], [21779982, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790130], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819375]]
ENST00000556336 [[21756097, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771570, 21771702], [21775889, 21775995], [21778742, 21778766], [21779982, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819460]] [[21756135, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771570, 21771702], [21775889, 21775995], [21778742, 21778766], [21779982, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819375]]
ENST00000400017 [[21756135, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771489, 21771702], [21775889, 21775995], [21778742, 21778766], [21779982, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819454]] [[21756135, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771489, 21771702], [21775889, 21775995], [21778742, 21778766], [21779982, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819375]]
ENST00000206660 [[21756135, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771489, 21771702], [21775889, 21775995], [21779072, 21779076], [21779962, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819458]] [[21756135, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771489, 21771702], [21775889, 21775995], [21779072, 21779076], [21779962, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819375]]
ENST00000554750 [[21769307, 21769396], [21770646, 21771128]] None
ENST00000382933 [[21785697, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819460]] [[21785777, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819375]]
ENST00000557351 [[21785711, 21786009], [21786285, 21786360], [21788175, 21788336], [21789417, 21789449]] [[21785777, 21786009], [21786285, 21786360], [21788175, 21788336], [21789417, 21789449]]
ENST00000553500 [[21788309, 21788336], [21789417, 21789459], [21790012, 21790163], [21792776, 21792884], [21793390, 21793542], [21793921, 21794026]] None
ENST00000555322 [[21789517, 21789665], [21790015, 21790163], [21792883, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819460]] [[21789517, 21789597]]
ENST00000555587 [[21789522, 21789561], [21790015, 21790163], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819460]] [[21789522, 21789561], [21790015, 21790163], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819375]]
ENST00000554303 [[21789531, 21789561], [21790012, 21790130], [21792776, 21793057]] [[21789531, 21789561], [21790012, 21790130], [21792776, 21793057]]
ENST00000555489 [[21790075, 21790130], [21792727, 21792884], [21793033, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819460]] [[21790075, 21790130], [21792727, 21792852]]
ENST00000553927 [[21792082, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819457]] None
ENST00000307974 [[21792788, 21792884], [21793033, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819458]] [[21792788, 21792884], [21793033, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819375]]
ENST00000557606 [[21796757, 21796786], [21798407, 21798546], [21802760, 21802864], [21811194, 21811324]] [[21796757, 21796786], [21798407, 21798546], [21802760, 21802864], [21811194, 21811324]]
NM_020366 [[21756135, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771489, 21771702], [21775889, 21775995], [21778742, 21778766], [21779982, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819460]] [[21756135, 21756220], [21762835, 21762968], [21769124, 21769396], [21770646, 21770743], [21771489, 21771702], [21775889, 21775995], [21778742, 21778766], [21779982, 21780129], [21780591, 21780665], [21785854, 21786009], [21788175, 21788336], [21789417, 21789561], [21790012, 21790163], [21792776, 21793229], [21793390, 21793542], [21793989, 21794332], [21795781, 21795966], [21796582, 21796786], [21798407, 21798546], [21802763, 21802864], [21811194, 21811387], [21813271, 21813356], [21816330, 21816461], [21819262, 21819375]]
Promoter
Chrom Start End Description
chr14 21785693 21785722 CAGE_peak_2_at_RPGRIP1_5end
chr14 21785731 21785735 CAGE_peak_3_at_RPGRIP1_5end
chr14 21788274 21788301 CAGE_peak_1_at_RPGRIP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I021255 21255702 21255851 0.66 [{'connected_gene': 'SNORD9', 'score': 11.21}, {'connected_gene': 'UBA52P2', 'score': 11.2}, {'connected_gene': 'SNORD8', 'score': 11.2}, {'connected_gene': 'RPGRIP1', 'score': 10.71}, {'connected_gene': 'GC14P021259', 'score': 0.77}, {'connected_gene': 'HNRNPC', 'score': 0.39}, {'connected_gene': 'GC14P021211', 'score': 0.25}, {'connected_gene': 'GC14P021210', 'score': 0.25}]
chr14 GH14I021352 21352131 21353000 0.77 [{'connected_gene': 'SNORD9', 'score': 11.8}, {'connected_gene': 'SNORD8', 'score': 11.79}, {'connected_gene': 'UBA52P2', 'score': 11.77}, {'connected_gene': 'RPGRIP1', 'score': 11.3}, {'connected_gene': 'ENSG00000257096', 'score': 9.6}, {'connected_gene': 'SALL2', 'score': 9.59}, {'connected_gene': 'SUPT16H', 'score': 5.45}, {'connected_gene': 'ENSG00000260830', 'score': 0.29}, {'connected_gene': 'MRPS17P6', 'score': 0.21}]
chr14 GH14I021555 21555479 21559022 1.35 [{'connected_gene': 'SALL2', 'score': 18.45}, {'connected_gene': 'ENSG00000257096', 'score': 11.83}, {'connected_gene': 'UBA52P2', 'score': 10.05}, {'connected_gene': 'SNORD8', 'score': 10.05}, {'connected_gene': 'SNORD9', 'score': 10.04}, {'connected_gene': 'RPGRIP1', 'score': 9.66}, {'connected_gene': 'RBBP4P5', 'score': 0.44}]
chr14 GH14I021647 21647180 21647724 0.54 [{'connected_gene': 'SALL2', 'score': 5.77}, {'connected_gene': 'RPGRIP1', 'score': 1.53}, {'connected_gene': 'ARL6IP1P1', 'score': 0.77}, {'connected_gene': 'TRAV1-2', 'score': 0.77}, {'connected_gene': 'GC14M021649', 'score': 0.77}, {'connected_gene': 'TRA', 'score': 0.31}]
chr14 GH14I021274 21274685 21275935 0.31 [{'connected_gene': 'CHD8', 'score': 10.83}, {'connected_gene': 'SNORD9', 'score': 10.18}, {'connected_gene': 'UBA52P2', 'score': 10.18}, {'connected_gene': 'SNORD8', 'score': 10.18}, {'connected_gene': 'SALL2', 'score': 9.51}, {'connected_gene': 'ENSG00000257096', 'score': 9.21}, {'connected_gene': 'HNRNPC', 'score': 0.44}, {'connected_gene': 'RPGRIP1', 'score': 0.39}]
chr14 GH14I021319 21319402 21320600 0.92 [{'connected_gene': 'RPGRIP1', 'score': 17.09}, {'connected_gene': 'SNORD9', 'score': 10.84}, {'connected_gene': 'UBA52P2', 'score': 10.83}, {'connected_gene': 'SNORD8', 'score': 10.83}, {'connected_gene': 'MRPS17P6', 'score': 0.31}, {'connected_gene': 'ENSG00000260830', 'score': 0.21}]
chr14 GH14I021257 21255862 21256071 0.66 [{'connected_gene': 'RPGRIP1', 'score': 16.23}, {'connected_gene': 'SNORD9', 'score': 11.21}, {'connected_gene': 'UBA52P2', 'score': 11.2}, {'connected_gene': 'SNORD8', 'score': 11.2}, {'connected_gene': 'GC14P021259', 'score': 0.77}, {'connected_gene': 'HNRNPC', 'score': 0.39}, {'connected_gene': 'GC14P021211', 'score': 0.25}, {'connected_gene': 'GC14P021210', 'score': 0.25}]
chr14 GH14I021256 21256121 21258511 1.03 [{'connected_gene': 'RPGRIP1', 'score': 19.78}, {'connected_gene': 'SNORD9', 'score': 11.2}, {'connected_gene': 'UBA52P2', 'score': 11.2}, {'connected_gene': 'SNORD8', 'score': 11.2}, {'connected_gene': 'TRAV8-5', 'score': 6.34}, {'connected_gene': 'GC14P021259', 'score': 0.77}, {'connected_gene': 'HNRNPC', 'score': 0.39}, {'connected_gene': 'GC14P021211', 'score': 0.25}, {'connected_gene': 'GC14P021210', 'score': 0.25}]
chr14 GH14I021313 21313601 21313800 0.49 [{'connected_gene': 'RPGRIP1', 'score': 25.38}, {'connected_gene': 'SNORD9', 'score': 10.83}, {'connected_gene': 'SNORD8', 'score': 10.82}, {'connected_gene': 'UBA52P2', 'score': 10.81}, {'connected_gene': 'MRPS17P6', 'score': 0.34}, {'connected_gene': 'ENSG00000260830', 'score': 0.19}]
chr14 GH14I021317 21317173 21318021 0.82 [{'connected_gene': 'RPGRIP1', 'score': 24.03}, {'connected_gene': 'SNORD9', 'score': 10.84}, {'connected_gene': 'SNORD8', 'score': 10.83}, {'connected_gene': 'UBA52P2', 'score': 10.82}, {'connected_gene': 'MRPS17P6', 'score': 0.31}, {'connected_gene': 'ENSG00000260830', 'score': 0.2}]
chr14 GH14I021343 21343001 21343200 0.2 [{'connected_gene': 'RPGRIP1', 'score': 11.58}, {'connected_gene': 'HNRNPC', 'score': 11.2}, {'connected_gene': 'SNORD9', 'score': 10.95}, {'connected_gene': 'SNORD8', 'score': 10.94}, {'connected_gene': 'UBA52P2', 'score': 10.93}, {'connected_gene': 'SALL2', 'score': 9.9}, {'connected_gene': 'ENSG00000260830', 'score': 0.26}, {'connected_gene': 'MRPS17P6', 'score': 0.23}]
chr14 GH14I021307 21307459 21309742 1.22 [{'connected_gene': 'RPGRIP1', 'score': 25.54}, {'connected_gene': 'HNRNPC', 'score': 11.77}, {'connected_gene': 'SNORD9', 'score': 10.64}, {'connected_gene': 'SNORD8', 'score': 10.63}, {'connected_gene': 'UBA52P2', 'score': 10.63}, {'connected_gene': 'MRPS17P6', 'score': 0.37}, {'connected_gene': 'ENSG00000260830', 'score': 0.18}]
chr14 GH14I021281 21281791 21282184 0.39 [{'connected_gene': 'RPGRIP1', 'score': 0.44}, {'connected_gene': 'HNRNPC', 'score': 0.39}]
chr14 GH14I021320 21320818 21320917 0.38 [{'connected_gene': 'MRPS17P6', 'score': 0.31}, {'connected_gene': 'RPGRIP1', 'score': 0.29}, {'connected_gene': 'ENSG00000260830', 'score': 0.21}]
chr14 GH14I021300 21300801 21301001 1.03 [{'connected_gene': 'HNRNPC', 'score': 11.53}, {'connected_gene': 'SNORD9', 'score': 10.96}, {'connected_gene': 'UBA52P2', 'score': 10.95}, {'connected_gene': 'SNORD8', 'score': 10.95}, {'connected_gene': 'MRPS17P6', 'score': 0.44}, {'connected_gene': 'RPGRIP1', 'score': 0.39}, {'connected_gene': 'ENSG00000260830', 'score': 0.18}]
chr14 GH14I021297 21297364 21299042 0.75 [{'connected_gene': 'PARP2', 'score': 13.42}, {'connected_gene': 'RPGRIP1', 'score': 12.5}, {'connected_gene': 'PIP4P1', 'score': 11.59}, {'connected_gene': 'HNRNPC', 'score': 11.36}, {'connected_gene': 'SNORD9', 'score': 10.65}, {'connected_gene': 'SNORD8', 'score': 10.64}, {'connected_gene': 'UBA52P2', 'score': 10.64}, {'connected_gene': 'ENSG00000258515', 'score': 9.82}, {'connected_gene': 'SALL2', 'score': 8.79}, {'connected_gene': 'MRPS17P6', 'score': 0.44}, {'connected_gene': 'ENSG00000260830', 'score': 0.17}]
chr14 GH14I021258 21258962 21259111 0.72 [{'connected_gene': 'GC14P021259', 'score': 550.77}, {'connected_gene': 'UBA52P2', 'score': 11.21}, {'connected_gene': 'SNORD8', 'score': 11.21}, {'connected_gene': 'SNORD9', 'score': 11.2}, {'connected_gene': 'RPGRIP1', 'score': 10.73}, {'connected_gene': 'HNRNPC', 'score': 0.39}, {'connected_gene': 'GC14P021211', 'score': 0.25}, {'connected_gene': 'GC14P021210', 'score': 0.25}]
chr14 GH14I021553 21553071 21554237 0.51 [{'connected_gene': 'ENSG00000257096', 'score': 11.59}, {'connected_gene': 'RPGRIP1', 'score': 9.58}, {'connected_gene': 'UBA52P2', 'score': 9.06}, {'connected_gene': 'SNORD8', 'score': 9.06}, {'connected_gene': 'SNORD9', 'score': 9.05}, {'connected_gene': 'RBBP4P5', 'score': 0.39}, {'connected_gene': 'SALL2', 'score': 0.37}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.