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
ENST00000374561 [[23884408, 23884906], [23885425, 23885510], [23885617, 23886285]] [[23885450, 23885510], [23885617, 23885917]]
ENST00000463312 [[23884424, 23884906], [23885425, 23885566]] None
ENST00000486541 [[23884935, 23885510], [23885617, 23885934]] None
NM_002167 [[23884420, 23884906], [23885425, 23885510], [23885617, 23886285]] [[23885450, 23885510], [23885617, 23885917]]
Promoter
Chrom Start End Description
chr1 23885981 23886002 CAGE_peak_1_at_ID3_5end
chr1 23886132 23886156 CAGE_peak_2_at_ID3_5end
chr1 23886329 23886336 CAGE_peak_3_at_ID3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I023512 23512826 23513138 0.33 [{'connected_gene': 'ZNF436', 'score': 19.63}, {'connected_gene': 'ID3', 'score': 11.02}, {'connected_gene': 'ENSG00000201405', 'score': 10.58}, {'connected_gene': 'ZNF436-AS1', 'score': 10.58}, {'connected_gene': 'HNRNPR', 'score': 2.22}, {'connected_gene': 'PIR36355', 'score': 0.77}, {'connected_gene': 'LOC101928163', 'score': 0.44}, {'connected_gene': 'E2F2', 'score': 0.37}]
chr1 GH01I023718 23718571 23718760 0.72 [{'connected_gene': 'ELOA', 'score': 12.3}, {'connected_gene': 'ID3', 'score': 10.16}, {'connected_gene': 'GC01P023723', 'score': 0.77}, {'connected_gene': 'GC01M023708', 'score': 0.39}]
chr1 GH01I023537 23537003 23538106 1.08 [{'connected_gene': 'TCEA3', 'score': 7.52}, {'connected_gene': 'ID3', 'score': 5.05}, {'connected_gene': 'E2F2', 'score': 0.44}, {'connected_gene': 'LOC105376859', 'score': 0.37}]
chr1 GH01I023497 23497168 23497801 1.26 [{'connected_gene': 'TCEA3', 'score': 17.39}, {'connected_gene': 'E2F2', 'score': 12.18}, {'connected_gene': 'ID3', 'score': 11.07}, {'connected_gene': 'MDS2', 'score': 10.57}, {'connected_gene': 'PIR36355', 'score': 0.39}, {'connected_gene': 'ASAP3', 'score': 0.39}]
chr1 GH01I023638 23638974 23640565 0.56 [{'connected_gene': 'ID3', 'score': 11.75}, {'connected_gene': 'MDS2', 'score': 11.47}, {'connected_gene': 'E2F2', 'score': 11.45}, {'connected_gene': 'ASAP3', 'score': 11.28}, {'connected_gene': 'GC01P023610', 'score': 0.31}, {'connected_gene': 'LOC729856', 'score': 0.29}]
chr1 GH01I023632 23632367 23633870 0.38 [{'connected_gene': 'ID3', 'score': 12.14}, {'connected_gene': 'MDS2', 'score': 11.87}, {'connected_gene': 'E2F2', 'score': 11.42}, {'connected_gene': 'ASAP3', 'score': 11.2}, {'connected_gene': 'GC01P023610', 'score': 0.34}, {'connected_gene': 'LOC729856', 'score': 0.28}]
chr1 GH01I023513 23513705 23514749 0.63 [{'connected_gene': 'ID3', 'score': 11.02}, {'connected_gene': 'ZNF436-AS1', 'score': 10.58}, {'connected_gene': 'ZNF436', 'score': 10.58}, {'connected_gene': 'ENSG00000201405', 'score': 10.58}, {'connected_gene': 'TCEA3', 'score': 6.21}, {'connected_gene': 'PIR36355', 'score': 0.44}, {'connected_gene': 'LOC101928163', 'score': 0.44}, {'connected_gene': 'E2F2', 'score': 0.37}]
chr1 GH01I023516 23516715 23517637 0.31 [{'connected_gene': 'ID3', 'score': 11.04}, {'connected_gene': 'ZNF436-AS1', 'score': 10.58}, {'connected_gene': 'ZNF436', 'score': 10.58}, {'connected_gene': 'ENSG00000201405', 'score': 10.58}, {'connected_gene': 'LOC101928163', 'score': 0.77}, {'connected_gene': 'PIR36355', 'score': 0.44}, {'connected_gene': 'E2F2', 'score': 0.39}]
chr1 GH01I023553 23553135 23565306 2.67 [{'connected_gene': 'ID3', 'score': 560.77}, {'connected_gene': 'GC01M023559', 'score': 550.77}, {'connected_gene': 'GC01M023560', 'score': 550.77}, {'connected_gene': 'PIR53087', 'score': 550.77}, {'connected_gene': 'LOC105376859', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 37.59}, {'connected_gene': 'LINC01355', 'score': 26.48}, {'connected_gene': 'RPL11', 'score': 13.73}, {'connected_gene': 'MDS2', 'score': 12.2}, {'connected_gene': 'E2F2', 'score': 11.99}, {'connected_gene': 'PNRC2', 'score': 11.72}, {'connected_gene': 'ELOA', 'score': 11.4}, {'connected_gene': 'ASAP3', 'score': 10.91}, {'connected_gene': 'ZNF436-AS1', 'score': 9.15}, {'connected_gene': 'ZNF436', 'score': 7.6}, {'connected_gene': 'TCEA3', 'score': 5.49}]
chr1 GH01I023637 23637332 23638160 1.35 [{'connected_gene': 'MDS2', 'score': 11.87}, {'connected_gene': 'ID3', 'score': 11.75}, {'connected_gene': 'GC01P023610', 'score': 0.31}, {'connected_gene': 'LOC729856', 'score': 0.29}]
chr1 GH01I023634 23634389 23636213 1.59 [{'connected_gene': 'MDS2', 'score': 11.88}, {'connected_gene': 'ID3', 'score': 11.7}, {'connected_gene': 'GC01P023610', 'score': 0.31}, {'connected_gene': 'LOC729856', 'score': 0.29}]
chr1 GH01I023611 23611708 23616788 1.17 [{'connected_gene': 'MDS2', 'score': 12.31}, {'connected_gene': 'ID3', 'score': 12.08}, {'connected_gene': 'E2F2', 'score': 10.82}, {'connected_gene': 'GC01P023610', 'score': 0.77}, {'connected_gene': 'LOC729856', 'score': 0.22}]
chr1 GH01I023616 23616850 23622362 1.29 [{'connected_gene': 'MDS2', 'score': 12.15}, {'connected_gene': 'ID3', 'score': 11.87}, {'connected_gene': 'E2F2', 'score': 11.4}, {'connected_gene': 'GC01P023610', 'score': 0.44}, {'connected_gene': 'LOC729856', 'score': 0.23}]
chr1 GH01I023628 23628829 23630127 0.79 [{'connected_gene': 'MDS2', 'score': 17.04}, {'connected_gene': 'ID3', 'score': 12.15}, {'connected_gene': 'E2F2', 'score': 11.42}, {'connected_gene': 'ASAP3', 'score': 11.2}, {'connected_gene': 'FUCA1', 'score': 5.31}, {'connected_gene': 'GC01P023610', 'score': 0.37}, {'connected_gene': 'LOC729856', 'score': 0.26}]
chr1 GH01I023623 23623835 23624928 0.79 [{'connected_gene': 'MDS2', 'score': 11.56}, {'connected_gene': 'ID3', 'score': 11.45}, {'connected_gene': 'E2F2', 'score': 11.39}, {'connected_gene': 'FUCA1', 'score': 5.09}, {'connected_gene': 'GC01P023610', 'score': 0.39}, {'connected_gene': 'LOC729856', 'score': 0.25}]
chr1 GH01I023604 23604054 23604587 0.31 [{'connected_gene': 'KDM1A', 'score': 16.65}, {'connected_gene': 'LINC01355', 'score': 13.49}, {'connected_gene': 'SRSF10', 'score': 12.76}, {'connected_gene': 'MDS2', 'score': 11.9}, {'connected_gene': 'ID3', 'score': 11.43}, {'connected_gene': 'ELOA', 'score': 11.34}, {'connected_gene': 'GC01P023610', 'score': 0.44}, {'connected_gene': 'PIR62098', 'score': 0.44}]
chr1 GH01I023572 23572937 23579599 1.55 [{'connected_gene': 'E2F2', 'score': 10.52}, {'connected_gene': 'ID3', 'score': 6.4}, {'connected_gene': 'MDS2', 'score': 0.44}, {'connected_gene': 'PIR53087', 'score': 0.37}]
chr1 GH01I023521 23521963 23535404 2.73 [{'connected_gene': 'E2F2', 'score': 550.77}, {'connected_gene': 'GC01P023526', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 32.7}, {'connected_gene': 'LINC01355', 'score': 25.51}, {'connected_gene': 'ASAP3', 'score': 11.46}, {'connected_gene': 'ID3', 'score': 10.58}, {'connected_gene': 'ZNF436', 'score': 10.56}, {'connected_gene': 'KDM1A', 'score': 10.43}, {'connected_gene': 'ELOA', 'score': 10.34}, {'connected_gene': 'TCEA3', 'score': 9.31}, {'connected_gene': 'PNRC2', 'score': 7.06}, {'connected_gene': 'ENSG00000271420', 'score': 5.98}, {'connected_gene': 'RPL11', 'score': 1.68}, {'connected_gene': 'LOC101928163', 'score': 0.44}]
chr1 GH01I023625 23625233 23626069 0.87 [{'connected_gene': 'ZNF436-AS1', 'score': 52.06}, {'connected_gene': 'HNRNPR', 'score': 41.56}, {'connected_gene': 'SRSF10', 'score': 34.94}, {'connected_gene': 'LINC01355', 'score': 33.99}, {'connected_gene': 'KDM1A', 'score': 31.86}, {'connected_gene': 'RPL11', 'score': 20.51}, {'connected_gene': 'PNRC2', 'score': 11.8}, {'connected_gene': 'MDS2', 'score': 11.56}, {'connected_gene': 'ID3', 'score': 11.44}, {'connected_gene': 'E2F2', 'score': 11.39}, {'connected_gene': 'FUCA1', 'score': 11.25}, {'connected_gene': 'ASAP3', 'score': 10.43}, {'connected_gene': 'ELOA', 'score': 9.96}, {'connected_gene': 'GC01P023610', 'score': 0.37}, {'connected_gene': 'LOC729856', 'score': 0.26}]
chr1 GH01I023626 23626382 23628085 1.22 [{'connected_gene': 'SRSF10', 'score': 48.12}, {'connected_gene': 'RPL11', 'score': 37.61}, {'connected_gene': 'PNRC2', 'score': 33.32}, {'connected_gene': 'ELOA', 'score': 29.87}, {'connected_gene': 'LINC01355', 'score': 22.07}, {'connected_gene': 'FUCA1', 'score': 14.52}, {'connected_gene': 'HNRNPR', 'score': 13.43}, {'connected_gene': 'ID3', 'score': 12.15}, {'connected_gene': 'MDS2', 'score': 11.89}, {'connected_gene': 'E2F2', 'score': 11.42}, {'connected_gene': 'ASAP3', 'score': 11.2}, {'connected_gene': 'KDM1A', 'score': 9.89}, {'connected_gene': 'GC01P023610', 'score': 0.37}, {'connected_gene': 'LOC729856', 'score': 0.26}]
chr1 GH01I023606 23606434 23608900 0.6 [{'connected_gene': 'SRSF10', 'score': 14.51}, {'connected_gene': 'PNRC2', 'score': 13.08}, {'connected_gene': 'RPL11', 'score': 12.68}, {'connected_gene': 'MDS2', 'score': 11.87}, {'connected_gene': 'ID3', 'score': 11.42}, {'connected_gene': 'ELOA', 'score': 10.98}, {'connected_gene': 'GC01P023610', 'score': 0.77}, {'connected_gene': 'PIR62098', 'score': 0.44}]
chr1 GH01I023772 23772096 23772600 1.02 [{'connected_gene': 'PIR34347', 'score': 550.77}, {'connected_gene': 'ELOA', 'score': 12.23}, {'connected_gene': 'ID3', 'score': 9.96}, {'connected_gene': 'ELOA-AS1', 'score': 0.44}]
chr1 GH01I023609 23609729 23611186 0.4 [{'connected_gene': 'GC01P023610', 'score': 550.77}, {'connected_gene': 'MDS2', 'score': 12.33}, {'connected_gene': 'ID3', 'score': 12.08}, {'connected_gene': 'E2F2', 'score': 10.73}, {'connected_gene': 'LOC729856', 'score': 0.22}]
chr1 GH01I023506 23506849 23506998 0.51 [{'connected_gene': 'PIR36355', 'score': 550.77}, {'connected_gene': 'E2F2', 'score': 12.55}, {'connected_gene': 'ID3', 'score': 10.98}, {'connected_gene': 'ASAP3', 'score': 0.34}]
chr1 GH01I023589 23589002 23603629 1.7 [{'connected_gene': 'PIR62098', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 26.64}, {'connected_gene': 'LINC01355', 'score': 21.08}, {'connected_gene': 'E2F2', 'score': 12.7}, {'connected_gene': 'ELOA', 'score': 12.52}, {'connected_gene': 'HNRNPR', 'score': 12.51}, {'connected_gene': 'PNRC2', 'score': 12.16}, {'connected_gene': 'ID3', 'score': 12.15}, {'connected_gene': 'ZNF436', 'score': 11.6}, {'connected_gene': 'RPL11', 'score': 11.32}, {'connected_gene': 'ASAP3', 'score': 10.29}, {'connected_gene': 'ZNF436-AS1', 'score': 10.21}, {'connected_gene': 'ENSG00000201405', 'score': 10.21}, {'connected_gene': 'KDM1A', 'score': 10.09}, {'connected_gene': 'STPG1', 'score': 4.78}, {'connected_gene': 'CNR2', 'score': 1.79}, {'connected_gene': 'MDS2', 'score': 0.39}]