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
ENST00000582444 [[72420989, 72421071], [72435883, 72436351]] [[72435915, 72436351]]
ENST00000392627 [[72427051, 72428280], [72435883, 72436966], [72439956, 72440051], [72442987, 72443568]] [[72428177, 72428280], [72435883, 72436966], [72439956, 72440051], [72442987, 72443167]]
ENST00000342648 [[72427522, 72427974], [72436821, 72436966], [72439956, 72440051], [72442987, 72443568]] [[72436860, 72436966], [72439956, 72440051], [72442987, 72443167]]
ENST00000481232 [[72427666, 72428280], [72435883, 72436185], [72439956, 72440051], [72442987, 72443568]] [[72428177, 72428280], [72435883, 72436185], [72439956, 72440004]]
ENST00000392628 [[72428254, 72428280], [72435883, 72436966], [72439956, 72440051], [72442987, 72443137], [72445473, 72445648]] [[72428254, 72428280], [72435883, 72436966], [72439956, 72440051], [72442987, 72443137], [72445473, 72445506]]
ENST00000582473 [[72428271, 72428662], [72435883, 72436076]] [[72428394, 72428662], [72435883, 72436076]]
ENST00000392629 [[72429835, 72429896], [72435883, 72436966], [72439956, 72440051], [72442987, 72443167]] [[72429892, 72429896], [72435883, 72436966], [72439956, 72440051], [72442987, 72443167]]
ENST00000581590 [[72436034, 72436821], [72447025, 72447792]] [[72436034, 72436821], [72447025, 72447304]]
ENST00000582873 [[72439215, 72439273], [72439956, 72440051], [72442987, 72443227]] None
ENST00000482723 [[72439223, 72440051], [72442987, 72443137], [72444961, 72445054], [72445473, 72446719]] None
ENST00000577663 [[72441342, 72443566]] None
NM_022036 [[72427666, 72428280], [72435883, 72436966], [72439956, 72440051], [72442987, 72443568]] [[72428177, 72428280], [72435883, 72436966], [72439956, 72440051], [72442987, 72443167]]
NM_018653 [[72429835, 72429896], [72435883, 72436966], [72439956, 72440051], [72442987, 72443568]] [[72429892, 72429896], [72435883, 72436966], [72439956, 72440051], [72442987, 72443167]]
Promoter
Chrom Start End Description
chr17 72426891 72426918 CAGE_peak_10_at_GPRC5C_5end
chr17 72427477 72427533 CAGE_peak_2_at_GPRC5C_5end
chr17 72428185 72428199 CAGE_peak_4_at_GPRC5C_5end
chr17 72428218 72428264 CAGE_peak_1_at_GPRC5C_5end
chr17 72428266 72428277 CAGE_peak_6_at_GPRC5C_5end
chr17 72439181 72439209 CAGE_peak_3_at_GPRC5C_5end
chr17 72439704 72439736 CAGE_peak_8_at_GPRC5C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I074437 74437648 74438372 0.74 [{'connected_gene': 'NUP85', 'score': 16.94}, {'connected_gene': 'GGA3', 'score': 14.62}, {'connected_gene': 'NT5C', 'score': 13.92}, {'connected_gene': 'CD300A', 'score': 11.53}, {'connected_gene': 'CD300LD', 'score': 10.2}, {'connected_gene': 'CD300E', 'score': 10.14}, {'connected_gene': 'NAT9', 'score': 9.72}, {'connected_gene': 'MRPL58', 'score': 5.14}, {'connected_gene': 'GC17M074409', 'score': 0.77}, {'connected_gene': 'GPRC5C', 'score': 0.39}]
chr17 GH17I074472 74472882 74475047 0.74 [{'connected_gene': 'GPRC5C', 'score': 11.16}, {'connected_gene': 'GPR142', 'score': 10.72}, {'connected_gene': 'BTBD17', 'score': 10.16}, {'connected_gene': 'CD300LD', 'score': 10.02}, {'connected_gene': 'CD300E', 'score': 9.86}, {'connected_gene': 'RAB37', 'score': 1.53}, {'connected_gene': 'CD300A', 'score': 0.44}, {'connected_gene': 'GC17P074494', 'score': 0.34}]
chr17 GH17I074448 74448864 74450989 0.63 [{'connected_gene': 'GPRC5C', 'score': 13.55}, {'connected_gene': 'GPR142', 'score': 12.44}, {'connected_gene': 'CD300E', 'score': 10.64}, {'connected_gene': 'GC17P074445', 'score': 0.77}, {'connected_gene': 'CD300A', 'score': 0.37}]
chr17 GH17I074391 74391814 74392564 0.38 [{'connected_gene': 'GPRC5C', 'score': 12.54}, {'connected_gene': 'GPR142', 'score': 12.3}, {'connected_gene': 'CD300A', 'score': 11.39}, {'connected_gene': 'CD300LD', 'score': 10.64}, {'connected_gene': 'GC17M074418', 'score': 0.31}, {'connected_gene': 'RNA5SP448', 'score': 0.31}]
chr17 GH17I074471 74471375 74471842 0.58 [{'connected_gene': 'GPRC5C', 'score': 11.16}, {'connected_gene': 'GPR142', 'score': 11.01}, {'connected_gene': 'CD300LD', 'score': 10.01}, {'connected_gene': 'BTBD17', 'score': 9.91}, {'connected_gene': 'CD300E', 'score': 9.86}, {'connected_gene': 'CD300A', 'score': 5.25}, {'connected_gene': 'GC17P074494', 'score': 0.34}]
chr17 GH17I074426 74426395 74434855 2.7 [{'connected_gene': 'GPRC5C', 'score': 568.65}, {'connected_gene': 'NAT9', 'score': 18.85}, {'connected_gene': 'RN7SL573P', 'score': 13.31}, {'connected_gene': 'NUP85', 'score': 10.97}, {'connected_gene': 'MRPL58', 'score': 4.35}, {'connected_gene': 'DNAI2', 'score': 1.85}, {'connected_gene': 'GC17M074409', 'score': 0.44}]
chr17 GH17I074477 74477069 74480756 1.32 [{'connected_gene': 'GPRC5C', 'score': 25.51}, {'connected_gene': 'CD300LB', 'score': 21.19}, {'connected_gene': 'CD300E', 'score': 19.52}, {'connected_gene': 'CD300C', 'score': 10.02}, {'connected_gene': 'BTBD17', 'score': 9.31}, {'connected_gene': 'CD300LD', 'score': 6.28}, {'connected_gene': 'CD300LF', 'score': 5.92}, {'connected_gene': 'TMEM104', 'score': 5.52}, {'connected_gene': 'CD300A', 'score': 4.47}, {'connected_gene': 'TTYH2', 'score': 1.33}, {'connected_gene': 'GC17P074494', 'score': 0.37}]
chr17 GH17I074379 74379022 74381503 1.31 [{'connected_gene': 'GPRC5C', 'score': 12.12}, {'connected_gene': 'CD300LB', 'score': 11.41}, {'connected_gene': 'CD300C', 'score': 11.41}, {'connected_gene': 'ENSG00000236770', 'score': 11.4}, {'connected_gene': 'CD300E', 'score': 9.74}, {'connected_gene': 'GPR142', 'score': 0.39}, {'connected_gene': 'GC17M074418', 'score': 0.28}, {'connected_gene': 'RNA5SP448', 'score': 0.28}]
chr17 GH17I074386 74386114 74387233 1.02 [{'connected_gene': 'GPRC5C', 'score': 12.52}, {'connected_gene': 'CD300A', 'score': 11.38}, {'connected_gene': 'CD300LD', 'score': 10.64}, {'connected_gene': 'GPR142', 'score': 0.37}, {'connected_gene': 'GC17M074418', 'score': 0.29}, {'connected_gene': 'RNA5SP448', 'score': 0.29}]
chr17 GH17I074424 74424073 74425552 0.74 [{'connected_gene': 'GPRC5C', 'score': 550.77}, {'connected_gene': 'CD300A', 'score': 11.04}, {'connected_gene': 'CD300LD', 'score': 10.22}, {'connected_gene': 'GC17M074409', 'score': 0.37}]
chr17 GH17I074408 74408318 74409391 0.93 [{'connected_gene': 'GPRC5C', 'score': 5.08}, {'connected_gene': 'GC17M074418', 'score': 0.44}, {'connected_gene': 'RNA5SP448', 'score': 0.44}, {'connected_gene': 'GC17M074409', 'score': 0.29}, {'connected_gene': 'GPR142', 'score': 0.26}]
chr17 GH17I074419 74419397 74420881 0.4 [{'connected_gene': 'GPRC5C', 'score': 14.43}, {'connected_gene': 'GC17M074418', 'score': 0.77}, {'connected_gene': 'RNA5SP448', 'score': 0.77}, {'connected_gene': 'GC17M074409', 'score': 0.34}]
chr17 GH17I074451 74451860 74455975 1.38 [{'connected_gene': 'GPR142', 'score': 12.43}, {'connected_gene': 'CD300E', 'score': 10.65}, {'connected_gene': 'CD300LD', 'score': 10.29}, {'connected_gene': 'GPRC5C', 'score': 5.08}, {'connected_gene': 'ENSG00000265800', 'score': 4.76}, {'connected_gene': 'GC17P074445', 'score': 0.44}, {'connected_gene': 'CD300A', 'score': 0.39}]
chr17 GH17I074457 74457642 74457811 1.27 [{'connected_gene': 'GPR142', 'score': 12.27}, {'connected_gene': 'RAB37', 'score': 5.82}, {'connected_gene': 'GRIN2C', 'score': 2.77}, {'connected_gene': 'TTYH2', 'score': 2.62}, {'connected_gene': 'GPRC5C', 'score': 1.44}, {'connected_gene': 'CD300A', 'score': 0.44}, {'connected_gene': 'GC17P074445', 'score': 0.39}]
chr17 GH17I074640 74640928 74643357 1.16 [{'connected_gene': 'CD300E', 'score': 34.93}, {'connected_gene': 'CD300C', 'score': 19.73}, {'connected_gene': 'CD300LB', 'score': 19.32}, {'connected_gene': 'TMEM104', 'score': 16.51}, {'connected_gene': 'CD300LF', 'score': 14.59}, {'connected_gene': 'CD300LD', 'score': 12.73}, {'connected_gene': 'RAB37', 'score': 11.66}, {'connected_gene': 'ENSG00000236770', 'score': 10.95}, {'connected_gene': 'SLC9A3R1', 'score': 10.61}, {'connected_gene': 'NAT9', 'score': 10.42}, {'connected_gene': 'GRIN2C', 'score': 10.24}, {'connected_gene': 'GPRC5C', 'score': 9.78}, {'connected_gene': 'LOC101928343', 'score': 5.02}, {'connected_gene': 'FDXR', 'score': 4.6}, {'connected_gene': 'CD300A', 'score': 2.21}, {'connected_gene': 'TTYH2', 'score': 1.69}, {'connected_gene': 'SLC16A5', 'score': 1.68}]
chr17 GH17I074639 74639069 74640782 1.38 [{'connected_gene': 'CD300E', 'score': 43.24}, {'connected_gene': 'CD300C', 'score': 21.49}, {'connected_gene': 'CD300LB', 'score': 20.01}, {'connected_gene': 'RAB37', 'score': 17.47}, {'connected_gene': 'TMEM104', 'score': 16.14}, {'connected_gene': 'CD300LF', 'score': 15.34}, {'connected_gene': 'CD300LD', 'score': 13.2}, {'connected_gene': 'CD300A', 'score': 10.99}, {'connected_gene': 'ENSG00000236770', 'score': 10.95}, {'connected_gene': 'SLC9A3R1', 'score': 10.61}, {'connected_gene': 'NAT9', 'score': 10.42}, {'connected_gene': 'GRIN2C', 'score': 10.23}, {'connected_gene': 'GPRC5C', 'score': 9.78}, {'connected_gene': 'LOC101928343', 'score': 4.72}, {'connected_gene': 'SLC16A5', 'score': 1.83}, {'connected_gene': 'TTYH2', 'score': 1.74}]
chr17 GH17I074635 74635051 74638299 1.08 [{'connected_gene': 'CD300E', 'score': 47.17}, {'connected_gene': 'CD300C', 'score': 23.0}, {'connected_gene': 'CD300LB', 'score': 19.79}, {'connected_gene': 'CD300LF', 'score': 16.09}, {'connected_gene': 'TMEM104', 'score': 14.97}, {'connected_gene': 'CD300LD', 'score': 13.17}, {'connected_gene': 'RAB37', 'score': 11.65}, {'connected_gene': 'ENSG00000236770', 'score': 10.96}, {'connected_gene': 'SLC9A3R1', 'score': 10.6}, {'connected_gene': 'NAT9', 'score': 10.57}, {'connected_gene': 'GRIN2C', 'score': 10.23}, {'connected_gene': 'GPRC5C', 'score': 9.78}, {'connected_gene': 'LOC101928343', 'score': 5.39}, {'connected_gene': 'ENSG00000266106', 'score': 5.0}, {'connected_gene': 'MYO15B', 'score': 4.45}, {'connected_gene': 'CD300A', 'score': 3.0}, {'connected_gene': 'SLC16A5', 'score': 2.19}, {'connected_gene': 'TTYH2', 'score': 1.74}]
chr17 GH17I074394 74394218 74396117 1.11 [{'connected_gene': 'RAB37', 'score': 20.44}, {'connected_gene': 'GPR142', 'score': 12.89}, {'connected_gene': 'GPRC5C', 'score': 12.02}, {'connected_gene': 'CD300A', 'score': 11.22}, {'connected_gene': 'CD300E', 'score': 10.24}, {'connected_gene': 'CD300LD', 'score': 10.22}, {'connected_gene': 'GRIN2C', 'score': 9.28}, {'connected_gene': 'FADS6', 'score': 2.01}, {'connected_gene': 'GC17M074418', 'score': 0.34}, {'connected_gene': 'RNA5SP448', 'score': 0.34}]
chr17 GH17I074388 74388537 74389937 0.77 [{'connected_gene': 'NT5C', 'score': 17.36}, {'connected_gene': 'NUP85', 'score': 16.21}, {'connected_gene': 'GPRC5C', 'score': 12.52}, {'connected_gene': 'CD300A', 'score': 11.38}, {'connected_gene': 'GGA3', 'score': 11.21}, {'connected_gene': 'CD300LD', 'score': 10.64}, {'connected_gene': 'NAT9', 'score': 9.85}, {'connected_gene': 'GPR142', 'score': 0.34}, {'connected_gene': 'GC17M074418', 'score': 0.31}, {'connected_gene': 'RNA5SP448', 'score': 0.31}]
chr17 GH17I074526 74526601 74534000 1.99 [{'connected_gene': 'CD300LB', 'score': 577.17}, {'connected_gene': 'CD300E', 'score': 21.89}, {'connected_gene': 'CD300LD', 'score': 21.05}, {'connected_gene': 'CD300A', 'score': 19.27}, {'connected_gene': 'CD300C', 'score': 17.85}, {'connected_gene': 'CD300LF', 'score': 14.67}, {'connected_gene': 'GPR142', 'score': 11.33}, {'connected_gene': 'GPRC5C', 'score': 10.51}, {'connected_gene': 'TMEM104', 'score': 7.11}, {'connected_gene': 'TTYH2', 'score': 1.52}, {'connected_gene': 'RAB37', 'score': 1.5}, {'connected_gene': 'SLC9A3R1', 'score': 1.47}, {'connected_gene': 'GC17P074516', 'score': 0.39}]
chr17 GH17I074435 74435128 74437295 1.21 [{'connected_gene': 'CD300A', 'score': 11.3}, {'connected_gene': 'GPR142', 'score': 11.01}, {'connected_gene': 'CD300E', 'score': 9.83}, {'connected_gene': 'MRPL58', 'score': 5.43}, {'connected_gene': 'GC17M074409', 'score': 0.77}, {'connected_gene': 'GPRC5C', 'score': 0.39}]
chr17 GH17I074442 74442216 74447916 1.41 [{'connected_gene': 'GC17P074445', 'score': 550.77}, {'connected_gene': 'GPRC5C', 'score': 21.73}, {'connected_gene': 'CD300A', 'score': 12.46}, {'connected_gene': 'GPR142', 'score': 12.44}, {'connected_gene': 'CD300E', 'score': 10.65}, {'connected_gene': 'CD300LD', 'score': 10.21}, {'connected_gene': 'NT5C', 'score': 4.47}, {'connected_gene': 'GC17M074409', 'score': 0.77}]
chr17 GH17I074438 74438720 74441237 0.57 [{'connected_gene': 'GC17M074409', 'score': 550.77}, {'connected_gene': 'CD300A', 'score': 11.15}, {'connected_gene': 'CD300E', 'score': 10.14}, {'connected_gene': 'NUP85', 'score': 4.3}, {'connected_gene': 'GPRC5C', 'score': 0.37}]
chr17 GH17I074441 74441326 74441911 0.2 [{'connected_gene': 'GC17M074409', 'score': 550.77}, {'connected_gene': 'CD300A', 'score': 11.18}, {'connected_gene': 'CD300E', 'score': 10.14}, {'connected_gene': 'GC17P074445', 'score': 0.77}, {'connected_gene': 'GPRC5C', 'score': 0.37}]
chr17 GH17I074417 74416680 74418582 1.31 [{'connected_gene': 'GC17M074418', 'score': 550.77}, {'connected_gene': 'RNA5SP448', 'score': 550.77}, {'connected_gene': 'GPRC5C', 'score': 6.59}, {'connected_gene': 'GC17M074409', 'score': 0.34}, {'connected_gene': 'GPR142', 'score': 0.23}]

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