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
ENST00000495034 [[178694299, 178694554], [178745816, 178745956], [178753552, 178753657], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848923]] None
ENST00000367635 [[178694299, 178694554], [178745816, 178745956], [178753552, 178753657], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668], [178854210, 178854346], [178855103, 178855255], [178858776, 178858831], [178861364, 178861442], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178876002], [178885464, 178889238]] [[178745899, 178745956], [178753552, 178753657], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668], [178854210, 178854346], [178855103, 178855255], [178858776, 178858831], [178861364, 178861442], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178876002], [178885464, 178885494]]
ENST00000367634 [[178694378, 178694554], [178745816, 178745956], [178753552, 178753657], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668], [178854210, 178854346], [178855103, 178855255], [178858776, 178858831], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178876002], [178885464, 178885784]] [[178745899, 178745956], [178753552, 178753657], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668], [178854210, 178854346], [178855103, 178855255], [178858776, 178858831], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178876002], [178885464, 178885494]]
ENST00000324778 [[178694530, 178694554], [178745816, 178745956], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668]] [[178745899, 178745956], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668]]
ENST00000477383 [[178846674, 178846770], [178848036, 178848127], [178852600, 178852668], [178854210, 178854346], [178855103, 178855255], [178858776, 178858831], [178863053, 178863126]] None
ENST00000415888 [[178848079, 178848127], [178852600, 178852668], [178854210, 178854756]] [[178848079, 178848127], [178852600, 178852668], [178854210, 178854392]]
ENST00000480743 [[178855111, 178855255], [178858776, 178858831], [178861364, 178861442], [178863053, 178863460]] None
ENST00000367632 [[178855213, 178855255], [178858776, 178858831], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178875946]] [[178855213, 178855255], [178858776, 178858831], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178875946]]
ENST00000478871 [[178862972, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178876002], [178885464, 178885510]] None
NM_001286247 [[178694281, 178694554], [178745816, 178745956], [178753552, 178753657], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668], [178854210, 178854346], [178855103, 178855255], [178858776, 178858831], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178876002], [178885464, 178890977]] [[178745899, 178745956], [178753552, 178753657], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668], [178854210, 178854346], [178855103, 178855255], [178858776, 178858831], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178876002], [178885464, 178885494]]
NM_152663 [[178694281, 178694554], [178745816, 178745956], [178753552, 178753657], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668], [178854210, 178854346], [178855103, 178855255], [178858776, 178858831], [178861364, 178861442], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178876002], [178885464, 178890977]] [[178745899, 178745956], [178753552, 178753657], [178754691, 178754742], [178777179, 178777263], [178780449, 178780539], [178790746, 178790839], [178802558, 178802685], [178846632, 178846770], [178848036, 178848127], [178852600, 178852668], [178854210, 178854346], [178855103, 178855255], [178858776, 178858831], [178861364, 178861442], [178863053, 178863159], [178866798, 178866891], [178871240, 178871346], [178875910, 178876002], [178885464, 178885494]]
Promoter
Chrom Start End Description
chr1 178693977 178693988 CAGE_peak_4_at_RALGPS2_5end
chr1 178694325 178694346 CAGE_peak_3_at_RALGPS2_5end
chr1 178694362 178694400 CAGE_peak_1_at_RALGPS2_5end
chr1 178694408 178694442 CAGE_peak_2_at_RALGPS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I179023 179023959 179027827 2.55 [{'connected_gene': 'FAM20B', 'score': 563.28}, {'connected_gene': 'TOR3A', 'score': 24.59}, {'connected_gene': 'RALGPS2', 'score': 10.45}, {'connected_gene': 'CEP350', 'score': 10.13}, {'connected_gene': 'AXDND1', 'score': 3.22}, {'connected_gene': 'GC01M179035', 'score': 0.44}, {'connected_gene': 'GC01P179007', 'score': 0.37}]
chr1 GH01I178789 178789797 178790134 0.42 [{'connected_gene': 'FAM20B', 'score': 10.95}, {'connected_gene': 'C1orf220', 'score': 10.39}, {'connected_gene': 'ANGPTL1', 'score': 5.65}, {'connected_gene': 'GC01M178803', 'score': 0.37}, {'connected_gene': 'ENSG00000201791', 'score': 0.28}, {'connected_gene': 'GC01M178756', 'score': 0.28}, {'connected_gene': 'RALGPS2', 'score': 0.21}]
chr1 GH01I178790 178790635 178804476 0.6 [{'connected_gene': 'ANGPTL1', 'score': 18.89}, {'connected_gene': 'FAM20B', 'score': 10.96}, {'connected_gene': 'C1orf220', 'score': 10.9}, {'connected_gene': 'CLEC20A', 'score': 4.81}, {'connected_gene': 'CRYZL2P', 'score': 4.78}, {'connected_gene': 'RALGPS2', 'score': 4.31}, {'connected_gene': 'GC01M178803', 'score': 0.44}, {'connected_gene': 'ENSG00000201791', 'score': 0.26}, {'connected_gene': 'GC01M178756', 'score': 0.26}]
chr1 GH01I178931 178931192 178934910 1.28 [{'connected_gene': 'ANGPTL1', 'score': 16.36}, {'connected_gene': 'RALGPS2', 'score': 4.29}, {'connected_gene': 'LOC102724754', 'score': 0.44}]
chr1 GH01I178870 178870184 178872380 1.68 [{'connected_gene': 'ANGPTL1', 'score': 550.77}, {'connected_gene': 'GC01M178803', 'score': 0.2}, {'connected_gene': 'RALGPS2', 'score': 0.11}]
chr1 GH01I178866 178866597 178868435 0.89 [{'connected_gene': 'ANGPTL1', 'score': 7.12}, {'connected_gene': 'ENSG00000273062', 'score': 7.04}, {'connected_gene': 'GC01M178803', 'score': 0.21}, {'connected_gene': 'RALGPS2', 'score': 0.11}]
chr1 GH01I178868 178868601 178868800 0.4 [{'connected_gene': 'ANGPTL1', 'score': 0.77}, {'connected_gene': 'GC01M178803', 'score': 0.21}, {'connected_gene': 'RALGPS2', 'score': 0.11}]
chr1 GH01I178856 178856168 178859450 0.31 [{'connected_gene': 'ANGPTL1', 'score': 8.3}, {'connected_gene': 'ENSG00000273062', 'score': 7.05}, {'connected_gene': 'RALGPS2', 'score': 4.14}, {'connected_gene': 'GC01M178803', 'score': 0.23}]
chr1 GH01I178844 178844181 178847196 0.58 [{'connected_gene': 'ANGPTL1', 'score': 19.48}, {'connected_gene': 'ENSG00000273062', 'score': 7.06}, {'connected_gene': 'GC01M178803', 'score': 0.28}, {'connected_gene': 'RALGPS2', 'score': 0.13}]
chr1 GH01I178869 178869200 178869401 1.52 [{'connected_gene': 'ANGPTL1', 'score': 550.77}, {'connected_gene': 'GC01M178803', 'score': 0.21}, {'connected_gene': 'RALGPS2', 'score': 0.11}]
chr1 GH01I178897 178897062 178903769 0.38 [{'connected_gene': 'ANGPTL1', 'score': 18.64}, {'connected_gene': 'C1orf220', 'score': 9.92}, {'connected_gene': 'CRYZL2P', 'score': 4.85}, {'connected_gene': 'RALGPS2', 'score': 4.25}, {'connected_gene': 'LOC102724754', 'score': 0.28}]
chr1 GH01I178766 178766015 178773716 0.69 [{'connected_gene': 'ANGPTL1', 'score': 16.58}, {'connected_gene': 'C1orf220', 'score': 11.33}, {'connected_gene': 'CRYZL2P', 'score': 4.72}, {'connected_gene': 'RALGPS2', 'score': 4.66}, {'connected_gene': 'ENSG00000201791', 'score': 0.37}, {'connected_gene': 'GC01M178756', 'score': 0.37}, {'connected_gene': 'GC01M178803', 'score': 0.28}]
chr1 GH01I178822 178822686 178827279 0.31 [{'connected_gene': 'ANGPTL1', 'score': 17.19}, {'connected_gene': 'C1orf220', 'score': 10.29}, {'connected_gene': 'GC01M178803', 'score': 0.37}, {'connected_gene': 'RALGPS2', 'score': 0.15}]
chr1 GH01I178904 178904741 178908751 0.2 [{'connected_gene': 'ANGPTL1', 'score': 18.25}, {'connected_gene': 'C1orf220', 'score': 9.91}, {'connected_gene': 'ENSG00000273062', 'score': 6.9}, {'connected_gene': 'LOC102724754', 'score': 0.29}, {'connected_gene': 'RALGPS2', 'score': 0.09}]
chr1 GH01I178850 178850775 178855882 0.2 [{'connected_gene': 'ANGPTL1', 'score': 5.44}, {'connected_gene': 'CLEC20A', 'score': 4.83}, {'connected_gene': 'RALGPS2', 'score': 4.07}, {'connected_gene': 'GC01M178803', 'score': 0.25}]
chr1 GH01I178908 178908797 178915532 0.52 [{'connected_gene': 'ANGPTL1', 'score': 17.32}, {'connected_gene': 'LOC102724754', 'score': 0.31}, {'connected_gene': 'RALGPS2', 'score': 0.09}]
chr1 GH01I178874 178874789 178879338 0.43 [{'connected_gene': 'ANGPTL1', 'score': 5.91}, {'connected_gene': 'LOC102724754', 'score': 0.21}, {'connected_gene': 'RALGPS2', 'score': 0.1}]
chr1 GH01I178893 178893890 178896564 0.2 [{'connected_gene': 'ANGPTL1', 'score': 16.69}, {'connected_gene': 'ENSG00000273062', 'score': 7.03}, {'connected_gene': 'LOC102724754', 'score': 0.26}, {'connected_gene': 'RALGPS2', 'score': 0.09}]
chr1 GH01I178916 178916360 178917515 0.97 [{'connected_gene': 'ANGPTL1', 'score': 11.3}, {'connected_gene': 'LOC102724754', 'score': 0.34}, {'connected_gene': 'RALGPS2', 'score': 0.08}]
chr1 GH01I178588 178588104 178589809 0.38 [{'connected_gene': 'TEX35', 'score': 7.95}, {'connected_gene': 'RALGPS2', 'score': 7.83}, {'connected_gene': 'C1orf220', 'score': 6.56}, {'connected_gene': 'LOC105371632', 'score': 0.44}, {'connected_gene': 'GC01P178598', 'score': 0.44}]
chr1 GH01I178618 178618313 178620652 0.43 [{'connected_gene': 'TEX35', 'score': 11.93}, {'connected_gene': 'RALGPS2', 'score': 8.81}, {'connected_gene': 'CLEC20A', 'score': 5.37}, {'connected_gene': 'C1orf220', 'score': 4.83}, {'connected_gene': 'GC01P178598', 'score': 0.34}, {'connected_gene': 'GC01M178650', 'score': 0.29}]
chr1 GH01I178628 178628406 178631001 0.97 [{'connected_gene': 'TEX35', 'score': 12.37}, {'connected_gene': 'RALGPS2', 'score': 8.88}, {'connected_gene': 'GC01M178650', 'score': 0.34}, {'connected_gene': 'GC01P178598', 'score': 0.29}]
chr1 GH01I178560 178560209 178569337 0.74 [{'connected_gene': 'TEX35', 'score': 14.69}, {'connected_gene': 'C1orf220', 'score': 11.82}, {'connected_gene': 'ENSG00000201791', 'score': 11.02}, {'connected_gene': 'CLEC20A', 'score': 5.34}, {'connected_gene': 'RALGPS2', 'score': 4.99}, {'connected_gene': 'CRYZL2P', 'score': 3.94}, {'connected_gene': 'RNA5SP69', 'score': 0.77}, {'connected_gene': 'GC01P178561', 'score': 0.77}, {'connected_gene': 'GC01P178569', 'score': 0.77}, {'connected_gene': 'LOC105371632', 'score': 0.37}]
chr1 GH01I178549 178549280 178553745 0.77 [{'connected_gene': 'TEX35', 'score': 14.73}, {'connected_gene': 'CLEC20A', 'score': 9.95}, {'connected_gene': 'FAM20B', 'score': 9.92}, {'connected_gene': 'RALGPS2', 'score': 4.79}, {'connected_gene': 'GC01P178561', 'score': 0.44}, {'connected_gene': 'C1orf220', 'score': 0.44}]
chr1 GH01I178773 178773985 178777237 0.8 [{'connected_gene': 'RALGPS2', 'score': 7.08}, {'connected_gene': 'ANGPTL1', 'score': 6.33}, {'connected_gene': 'RASAL2', 'score': 5.21}, {'connected_gene': 'CLEC20A', 'score': 4.8}, {'connected_gene': 'ENSG00000201791', 'score': 0.34}, {'connected_gene': 'GC01M178756', 'score': 0.34}, {'connected_gene': 'GC01M178803', 'score': 0.29}]
chr1 GH01I178759 178759429 178761377 0.2 [{'connected_gene': 'RALGPS2', 'score': 10.79}, {'connected_gene': 'ANGPTL1', 'score': 5.79}, {'connected_gene': 'ENSG00000201791', 'score': 0.44}, {'connected_gene': 'GC01M178756', 'score': 0.44}, {'connected_gene': 'GC01M178803', 'score': 0.25}]
chr1 GH01I178603 178603752 178614733 1.46 [{'connected_gene': 'RALGPS2', 'score': 25.34}, {'connected_gene': 'TEX35', 'score': 14.63}, {'connected_gene': 'C1orf220', 'score': 11.47}, {'connected_gene': 'TOR3A', 'score': 5.53}, {'connected_gene': 'GC01P178598', 'score': 0.39}, {'connected_gene': 'GC01M178650', 'score': 0.26}]
chr1 GH01I178706 178706332 178706969 0.49 [{'connected_gene': 'RALGPS2', 'score': 15.54}, {'connected_gene': 'CLEC20A', 'score': 4.95}, {'connected_gene': 'GC01M178690', 'score': 0.39}, {'connected_gene': 'GC01P178687', 'score': 0.37}]
chr1 GH01I178660 178659866 178660015 0.72 [{'connected_gene': 'RALGPS2', 'score': 10.33}, {'connected_gene': 'ENSG00000273384', 'score': 0.44}, {'connected_gene': 'MIR4424', 'score': 0.37}]
chr1 GH01I178683 178683390 178686325 0.92 [{'connected_gene': 'RALGPS2', 'score': 35.0}, {'connected_gene': 'GC01P178687', 'score': 0.77}, {'connected_gene': 'MIR4424', 'score': 0.44}]
chr1 GH01I178100 178100678 178102304 0.87 [{'connected_gene': 'RALGPS2', 'score': 5.11}, {'connected_gene': 'RASAL2-AS1', 'score': 0.44}, {'connected_gene': 'RASAL2', 'score': 0.44}, {'connected_gene': 'LOC105371630', 'score': 0.34}, {'connected_gene': 'GC01M178037', 'score': 0.18}]
chr1 GH01I178884 178884040 178887762 0.54 [{'connected_gene': 'C1orf220', 'score': 10.1}, {'connected_gene': 'ANGPTL1', 'score': 5.47}, {'connected_gene': 'CRYZL2P', 'score': 4.98}, {'connected_gene': 'RALGPS2', 'score': 4.05}, {'connected_gene': 'LOC102724754', 'score': 0.23}]
chr1 GH01I178755 178755216 178758590 0.38 [{'connected_gene': 'C1orf220', 'score': 11.2}, {'connected_gene': 'ENSG00000273062', 'score': 7.39}, {'connected_gene': 'ANGPTL1', 'score': 5.13}, {'connected_gene': 'ENSG00000201791', 'score': 0.77}, {'connected_gene': 'GC01M178756', 'score': 0.77}, {'connected_gene': 'RALGPS2', 'score': 0.29}, {'connected_gene': 'GC01M178803', 'score': 0.25}]
chr1 GH01I178540 178540203 178545793 1.94 [{'connected_gene': 'C1orf220', 'score': 556.56}, {'connected_gene': 'GC01M178539', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 16.43}, {'connected_gene': 'RALGPS2', 'score': 4.96}, {'connected_gene': 'GC01P178561', 'score': 0.37}]
chr1 GH01I178642 178642973 178647325 0.93 [{'connected_gene': 'C1orf220', 'score': 10.65}, {'connected_gene': 'RALGPS2', 'score': 6.98}, {'connected_gene': 'CLEC20A', 'score': 4.77}, {'connected_gene': 'GC01M178650', 'score': 0.44}, {'connected_gene': 'GC01P178598', 'score': 0.25}]
chr1 GH01I178632 178632108 178635172 0.63 [{'connected_gene': 'C1orf220', 'score': 15.0}, {'connected_gene': 'RALGPS2', 'score': 8.7}, {'connected_gene': 'GC01M178650', 'score': 0.37}, {'connected_gene': 'GC01P178598', 'score': 0.29}]
chr1 GH01I179364 179364623 179366857 2.07 [{'connected_gene': 'AXDND1', 'score': 591.15}, {'connected_gene': 'GC01P179364', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 18.81}, {'connected_gene': 'TDRD5', 'score': 17.37}, {'connected_gene': 'RALGPS2', 'score': 9.81}, {'connected_gene': 'SOAT1', 'score': 6.7}, {'connected_gene': 'TOR3A', 'score': 6.27}, {'connected_gene': 'MEF2AP1', 'score': 0.18}]
chr1 GH01I178580 178580643 178582331 1.05 [{'connected_gene': 'LOC105371632', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 14.66}, {'connected_gene': 'C1orf220', 'score': 11.43}, {'connected_gene': 'RALGPS2', 'score': 10.08}, {'connected_gene': 'GC01P178598', 'score': 0.37}]
chr1 GH01I178937 178937342 178941203 0.78 [{'connected_gene': 'LOC102724754', 'score': 550.77}, {'connected_gene': 'ANGPTL1', 'score': 10.81}, {'connected_gene': 'ENSG00000273062', 'score': 4.53}, {'connected_gene': 'RALGPS2', 'score': 4.17}, {'connected_gene': 'GC01P179007', 'score': 0.2}]
chr1 GH01I178831 178831476 178835449 0.2 [{'connected_gene': 'ENSG00000273062', 'score': 7.07}, {'connected_gene': 'ANGPTL1', 'score': 6.45}, {'connected_gene': 'GC01M178803', 'score': 0.31}, {'connected_gene': 'RALGPS2', 'score': 0.14}]
chr1 GH01I178918 178918328 178919784 0.99 [{'connected_gene': 'ENSG00000273062', 'score': 6.68}, {'connected_gene': 'ANGPTL1', 'score': 5.28}, {'connected_gene': 'LOC102724754', 'score': 0.37}, {'connected_gene': 'RALGPS2', 'score': 0.08}]
chr1 GH01I178598 178598429 178600778 0.38 [{'connected_gene': 'GC01P178598', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 15.62}, {'connected_gene': 'C1orf220', 'score': 15.26}, {'connected_gene': 'RALGPS2', 'score': 5.06}, {'connected_gene': 'GC01M178650', 'score': 0.23}]
chr1 GH01I178650 178650566 178653916 0.76 [{'connected_gene': 'GC01M178650', 'score': 550.77}, {'connected_gene': 'ENSG00000273384', 'score': 550.77}, {'connected_gene': 'RALGPS2', 'score': 13.02}, {'connected_gene': 'C1orf220', 'score': 11.01}, {'connected_gene': 'ANGPTL1', 'score': 4.35}, {'connected_gene': 'MIR4424', 'score': 0.31}]
chr1 GH01I178724 178724396 178728143 2.19 [{'connected_gene': 'ENSG00000273062', 'score': 572.07}, {'connected_gene': 'RALGPS2', 'score': 555.27}, {'connected_gene': 'ENSG00000201791', 'score': 11.59}, {'connected_gene': 'TDRD5', 'score': 3.97}]
chr1 GH01I178716 178716528 178720023 0.46 [{'connected_gene': 'GC01M178690', 'score': 550.77}, {'connected_gene': 'ENSG00000273062', 'score': 26.32}, {'connected_gene': 'RALGPS2', 'score': 5.3}]

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