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
ENST00000300571 [[19868615, 19871866], [19873158, 19873295], [19883137, 19884168], [19896048, 19896239]] [[19871821, 19871866], [19873158, 19873295]]
ENST00000569102 [[19868620, 19869065], [19869322, 19869368]] None
ENST00000535671 [[19869819, 19869867], [19873158, 19873295], [19883137, 19884167]] [[19869819, 19869867], [19873158, 19873295], [19883137, 19884167]]
ENST00000562348 [[19870292, 19871866], [19873158, 19873662]] None
ENST00000569479 [[19870292, 19871866], [19873158, 19873295], [19883137, 19884168], [19897247, 19897489]] [[19871821, 19871866], [19873158, 19873295]]
ENST00000537135 [[19871729, 19871866], [19873158, 19873295], [19883137, 19884168], [19896524, 19896832]] [[19871821, 19871866], [19873158, 19873295], [19883137, 19884168], [19896524, 19896601]]
ENST00000569847 [[19871729, 19871866], [19873158, 19873295], [19883137, 19884168], [19896524, 19897049]] [[19871821, 19871866], [19873158, 19873295]]
ENST00000566822 [[19883634, 19884168], [19893453, 19893682]] None
ENST00000562469 [[19883722, 19884168], [19892291, 19892315], [19893453, 19893623], [19896048, 19896226]] None
ENST00000568214 [[19883897, 19884168], [19886053, 19886120], [19897247, 19897477]] None
ENST00000570142 [[19883908, 19884168], [19893453, 19893623], [19896048, 19896186]] None
ENST00000564449 [[19884090, 19884168], [19893453, 19893623], [19896524, 19896847]] None
NM_016235 [[19870292, 19871866], [19873158, 19873295], [19883137, 19884168], [19896048, 19896233]] [[19871821, 19871866], [19873158, 19873295]]
NM_001304771 [[19870292, 19871866], [19873158, 19873295], [19883137, 19884168], [19896524, 19896956]] [[19871821, 19871866], [19873158, 19873295], [19883137, 19884168], [19896524, 19896916]]
Promoter
Chrom Start End Description
chr16 19873226 19873239 CAGE_peak_3_at_GPRC5B_5end
chr16 19873242 19873268 CAGE_peak_6_at_GPRC5B_5end
chr16 19873304 19873334 CAGE_peak_5_at_GPRC5B_5end
chr16 19896150 19896205 CAGE_peak_1_at_GPRC5B_5end
chr16 19896220 19896229 CAGE_peak_2_at_GPRC5B_5end
chr16 19896782 19896816 CAGE_peak_4_at_GPRC5B_5end
chr16 19896843 19896858 CAGE_peak_8_at_GPRC5B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I019878 19878885 19880138 0.97 [{'connected_gene': 'REXO5', 'score': 10.84}, {'connected_gene': 'C16orf62', 'score': 10.84}, {'connected_gene': 'THUMPD1', 'score': 10.21}, {'connected_gene': 'KNOP1', 'score': 7.72}, {'connected_gene': 'GPRC5B', 'score': 0.44}, {'connected_gene': 'LARP7P2', 'score': 0.22}, {'connected_gene': 'GC16M019876', 'score': 0.1}]
chr16 GH16I019908 19907859 19908008 0.66 [{'connected_gene': 'C16orf62', 'score': 10.49}, {'connected_gene': 'LOC105371116', 'score': 0.37}, {'connected_gene': 'GPRC5B', 'score': 0.34}, {'connected_gene': 'GC16M019876', 'score': 0.11}]
chr16 GH16I019597 19597192 19598457 0.38 [{'connected_gene': 'GPRC5B', 'score': 5.95}, {'connected_gene': 'CCP110', 'score': 5.51}, {'connected_gene': 'C16orf62', 'score': 0.26}, {'connected_gene': 'GC16M019688', 'score': 0.16}, {'connected_gene': 'GC16M019687', 'score': 0.16}]
chr16 GH16I019881 19881695 19885648 2.25 [{'connected_gene': 'GPRC5B', 'score': 566.46}, {'connected_gene': 'THUMPD1', 'score': 16.92}, {'connected_gene': 'C16orf62', 'score': 10.83}, {'connected_gene': 'KNOP1', 'score': 8.75}, {'connected_gene': 'CCP110', 'score': 7.06}, {'connected_gene': 'LARP7P2', 'score': 0.21}, {'connected_gene': 'GC16M019876', 'score': 0.09}]
chr16 GH16I019594 19594800 19596273 0.96 [{'connected_gene': 'GPRC5B', 'score': 5.7}, {'connected_gene': 'KNOP1', 'score': 4.8}, {'connected_gene': 'C16orf62', 'score': 0.26}, {'connected_gene': 'GC16M019688', 'score': 0.16}, {'connected_gene': 'GC16M019687', 'score': 0.16}]
chr16 GH16I019606 19606794 19608755 0.2 [{'connected_gene': 'GPRC5B', 'score': 17.75}, {'connected_gene': 'IQCK', 'score': 10.54}, {'connected_gene': 'KNOP1', 'score': 10.53}, {'connected_gene': 'ENSG00000259925', 'score': 5.84}, {'connected_gene': 'CCP110', 'score': 5.4}, {'connected_gene': 'C16orf62', 'score': 0.23}, {'connected_gene': 'GC16M019688', 'score': 0.18}, {'connected_gene': 'GC16M019687', 'score': 0.18}]
chr16 GH16I019886 19886359 19886548 1.16 [{'connected_gene': 'GPRC5B', 'score': 550.77}, {'connected_gene': 'LOC105371116', 'score': 0.28}, {'connected_gene': 'GC16M019876', 'score': 0.09}]
chr16 GH16I019880 19880409 19881491 0.38 [{'connected_gene': 'KNOP1', 'score': 26.63}, {'connected_gene': 'C16orf62', 'score': 10.83}, {'connected_gene': 'GPRC5B', 'score': 0.44}, {'connected_gene': 'LARP7P2', 'score': 0.21}, {'connected_gene': 'GC16M019876', 'score': 0.1}]
chr16 GH16I019876 19876145 19877128 0.51 [{'connected_gene': 'KNOP1', 'score': 20.0}, {'connected_gene': 'C16orf62', 'score': 11.3}, {'connected_gene': 'IQCK', 'score': 11.21}, {'connected_gene': 'ACSM3', 'score': 4.46}, {'connected_gene': 'GPRC5B', 'score': 0.44}, {'connected_gene': 'LARP7P2', 'score': 0.22}, {'connected_gene': 'GC16M019876', 'score': 0.09}]
chr16 GH16I019866 19866479 19875762 0.46 [{'connected_gene': 'KNOP1', 'score': 38.77}, {'connected_gene': 'C16orf62', 'score': 11.31}, {'connected_gene': 'IQCK', 'score': 11.22}, {'connected_gene': 'RNU4-46P', 'score': 9.96}, {'connected_gene': 'GPRC5B', 'score': 0.37}, {'connected_gene': 'LARP7P2', 'score': 0.23}]
chr16 GH16I019907 19907559 19907728 0.83 [{'connected_gene': 'KNOP1', 'score': 21.33}, {'connected_gene': 'C16orf62', 'score': 10.49}, {'connected_gene': 'LOC105371116', 'score': 0.37}, {'connected_gene': 'GPRC5B', 'score': 0.34}, {'connected_gene': 'GC16M019876', 'score': 0.1}]
chr16 GH16I019850 19850010 19852646 0.46 [{'connected_gene': 'KNOP1', 'score': 7.02}, {'connected_gene': 'ACSM5', 'score': 4.83}, {'connected_gene': 'LARP7P2', 'score': 0.29}, {'connected_gene': 'GPRC5B', 'score': 0.29}, {'connected_gene': 'IQCK', 'score': 0.12}]
chr16 GH16I019598 19598810 19599542 0.31 [{'connected_gene': 'KNOP1', 'score': 6.3}, {'connected_gene': 'GPRC5B', 'score': 5.95}, {'connected_gene': 'CCP110', 'score': 5.01}, {'connected_gene': 'C16orf62', 'score': 0.26}, {'connected_gene': 'GC16M019688', 'score': 0.17}, {'connected_gene': 'GC16M019687', 'score': 0.17}]
chr16 GH16I019757 19757859 19758645 1.15 [{'connected_gene': 'KNOP1', 'score': 34.67}, {'connected_gene': 'GPRC5B', 'score': 10.1}, {'connected_gene': 'CCP110', 'score': 5.81}, {'connected_gene': 'IQCK', 'score': 1.45}, {'connected_gene': 'LOC105371115', 'score': 0.44}]
chr16 GH16I019855 19855474 19857401 0.43 [{'connected_gene': 'KNOP1', 'score': 25.65}, {'connected_gene': 'GPRC5B', 'score': 12.4}, {'connected_gene': 'C16orf62', 'score': 11.02}, {'connected_gene': 'ACSM5', 'score': 4.83}, {'connected_gene': 'LARP7P2', 'score': 0.28}, {'connected_gene': 'IQCK', 'score': 0.12}]
chr16 GH16I019859 19859185 19862892 0.97 [{'connected_gene': 'KNOP1', 'score': 28.98}, {'connected_gene': 'GPRC5B', 'score': 12.4}, {'connected_gene': 'C16orf62', 'score': 11.02}, {'connected_gene': 'ACSM5', 'score': 4.57}, {'connected_gene': 'LARP7P2', 'score': 0.26}]
chr16 GH16I019857 19857724 19859081 0.56 [{'connected_gene': 'KNOP1', 'score': 24.76}, {'connected_gene': 'GPRC5B', 'score': 12.4}, {'connected_gene': 'C16orf62', 'score': 11.02}, {'connected_gene': 'LARP7P2', 'score': 0.28}, {'connected_gene': 'IQCK', 'score': 0.11}]
chr16 GH16I019899 19899439 19899608 0.59 [{'connected_gene': 'KNOP1', 'score': 16.43}, {'connected_gene': 'GPRC5B', 'score': 0.39}, {'connected_gene': 'LOC105371116', 'score': 0.34}, {'connected_gene': 'GC16M019876', 'score': 0.1}]
chr16 GH16I019863 19863620 19866300 0.2 [{'connected_gene': 'KNOP1', 'score': 39.15}, {'connected_gene': 'IQCK', 'score': 11.16}, {'connected_gene': 'C16orf62', 'score': 10.62}, {'connected_gene': 'RNU4-46P', 'score': 9.96}, {'connected_gene': 'GPRC5B', 'score': 0.34}, {'connected_gene': 'LARP7P2', 'score': 0.25}]
chr16 GH16I019829 19829722 19832627 0.94 [{'connected_gene': 'KNOP1', 'score': 38.25}, {'connected_gene': 'IQCK', 'score': 10.61}, {'connected_gene': 'LARP7P2', 'score': 0.39}, {'connected_gene': 'GPRC5B', 'score': 0.23}]
chr16 GH16I019836 19836158 19836423 0.85 [{'connected_gene': 'KNOP1', 'score': 16.35}, {'connected_gene': 'LARP7P2', 'score': 0.37}, {'connected_gene': 'GPRC5B', 'score': 0.25}, {'connected_gene': 'IQCK', 'score': 0.13}]
chr16 GH16I019833 19833217 19834253 0.31 [{'connected_gene': 'KNOP1', 'score': 27.73}, {'connected_gene': 'LARP7P2', 'score': 0.39}, {'connected_gene': 'GPRC5B', 'score': 0.23}, {'connected_gene': 'IQCK', 'score': 0.13}]
chr16 GH16I019840 19840424 19846631 1.23 [{'connected_gene': 'KNOP1', 'score': 25.86}, {'connected_gene': 'LARP7P2', 'score': 0.34}, {'connected_gene': 'GPRC5B', 'score': 0.26}, {'connected_gene': 'IQCK', 'score': 0.13}]
chr16 GH16I019852 19852906 19853624 0.38 [{'connected_gene': 'KNOP1', 'score': 27.87}, {'connected_gene': 'LARP7P2', 'score': 0.29}, {'connected_gene': 'GPRC5B', 'score': 0.29}, {'connected_gene': 'IQCK', 'score': 0.12}]
chr16 GH16I020068 20068234 20068413 0.22 [{'connected_gene': 'IQCK', 'score': 1.87}, {'connected_gene': 'GPRC5B', 'score': 1.36}, {'connected_gene': 'GPR139', 'score': 0.44}, {'connected_gene': 'GC16M019876', 'score': 0.39}]
chr16 GH16I019853 19853831 19854862 0.72 [{'connected_gene': 'LARP7P2', 'score': 0.29}, {'connected_gene': 'GPRC5B', 'score': 0.29}, {'connected_gene': 'IQCK', 'score': 0.12}]
chr16 GH16I019837 19837246 19838753 0.79 [{'connected_gene': 'LARP7P2', 'score': 0.37}, {'connected_gene': 'GPRC5B', 'score': 0.25}, {'connected_gene': 'IQCK', 'score': 0.13}]
chr16 GH16I019912 19912919 19913048 0.64 [{'connected_gene': 'LOC105371116', 'score': 0.39}, {'connected_gene': 'GPRC5B', 'score': 0.31}, {'connected_gene': 'GC16M019876', 'score': 0.11}]