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
ENST00000374479 [[24171566, 24172345], [24172563, 24172663], [24175138, 24175329], [24180849, 24181050], [24186287, 24186393], [24189623, 24189761], [24191980, 24192115], [24194387, 24194784]] [[24172204, 24172345], [24172563, 24172663], [24175138, 24175329], [24180849, 24181050], [24186287, 24186393], [24189623, 24189761], [24191980, 24192115], [24194387, 24194776]]
NM_000147 [[24171566, 24172345], [24172563, 24172663], [24175138, 24175329], [24180849, 24181050], [24186287, 24186393], [24189623, 24189761], [24191980, 24192115], [24194387, 24194859]] [[24172204, 24172345], [24172563, 24172663], [24175138, 24175329], [24180849, 24181050], [24186287, 24186393], [24189623, 24189761], [24191980, 24192115], [24194387, 24194776]]
Promoter
Chrom Start End Description
chr1 24194771 24194851 CAGE_peak_1_at_FUCA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I023742 23742471 23745820 2.03 [{'connected_gene': 'ELOA', 'score': 564.81}, {'connected_gene': 'SRSF10', 'score': 17.84}, {'connected_gene': 'SRRM1', 'score': 16.05}, {'connected_gene': 'LINC01355', 'score': 13.13}, {'connected_gene': 'FUCA1', 'score': 10.4}, {'connected_gene': 'KDM1A', 'score': 9.98}, {'connected_gene': 'GC01P023754', 'score': 0.39}]
chr1 GH01I023902 23902533 23903201 1.04 [{'connected_gene': 'BTBD6P1', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 6.98}, {'connected_gene': 'E2F2', 'score': 4.93}, {'connected_gene': 'CNR2', 'score': 0.39}, {'connected_gene': 'GC01M023881', 'score': 0.34}]
chr1 GH01I023776 23776821 23780676 2.28 [{'connected_gene': 'PITHD1', 'score': 556.34}, {'connected_gene': 'ELOA-AS1', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 22.17}, {'connected_gene': 'KDM1A', 'score': 14.07}, {'connected_gene': 'SRRM1', 'score': 12.23}, {'connected_gene': 'ELOA', 'score': 12.08}, {'connected_gene': 'FUCA1', 'score': 10.59}, {'connected_gene': 'LYPLA2', 'score': 0.39}]
chr1 GH01I023907 23907723 23914159 2.08 [{'connected_gene': 'CNR2', 'score': 557.14}, {'connected_gene': 'FUCA1', 'score': 19.87}, {'connected_gene': 'NCMAP', 'score': 4.86}, {'connected_gene': 'PNRC2', 'score': 4.62}, {'connected_gene': 'RPL11', 'score': 2.1}, {'connected_gene': 'ENSG00000232557', 'score': 0.77}]
chr1 GH01I023824 23824009 23826262 2.04 [{'connected_gene': 'HMGCL', 'score': 550.39}, {'connected_gene': 'FUCA1', 'score': 14.39}, {'connected_gene': 'LYPLA2', 'score': 11.89}, {'connected_gene': 'KDM1A', 'score': 9.72}, {'connected_gene': 'GC01P023838', 'score': 0.39}, {'connected_gene': 'LOC105376861', 'score': 0.39}, {'connected_gene': 'PIR41142', 'score': 0.34}]
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 GH01I023796 23796283 23802473 2.27 [{'connected_gene': 'GALE', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 12.29}, {'connected_gene': 'PIR41142', 'score': 0.77}, {'connected_gene': 'LOC105376860', 'score': 0.44}, {'connected_gene': 'HMGCL', 'score': 0.28}]
chr1 GH01I023886 23886694 23890424 1.02 [{'connected_gene': 'FUCA1', 'score': 6.06}, {'connected_gene': 'GC01M023881', 'score': 0.44}, {'connected_gene': 'BTBD6P1', 'score': 0.39}, {'connected_gene': 'CNR2', 'score': 0.34}]
chr1 GH01I023809 23809311 23811414 1.38 [{'connected_gene': 'FUCA1', 'score': 25.74}, {'connected_gene': 'PITHD1', 'score': 11.66}, {'connected_gene': 'ELOA-AS1', 'score': 11.66}, {'connected_gene': 'PIR41142', 'score': 0.44}, {'connected_gene': 'GC01P023838', 'score': 0.31}, {'connected_gene': 'HMGCL', 'score': 0.31}]
chr1 GH01I023895 23895002 23898120 1.12 [{'connected_gene': 'FUCA1', 'score': 18.55}, {'connected_gene': 'PITHD1', 'score': 10.9}, {'connected_gene': 'ELOA-AS1', 'score': 10.9}, {'connected_gene': 'SRSF10', 'score': 10.75}, {'connected_gene': 'BTBD6P1', 'score': 0.44}, {'connected_gene': 'GC01M023881', 'score': 0.39}, {'connected_gene': 'CNR2', 'score': 0.37}]
chr1 GH01I023899 23899151 23899320 0.83 [{'connected_gene': 'FUCA1', 'score': 12.93}, {'connected_gene': 'PITHD1', 'score': 10.9}, {'connected_gene': 'ELOA-AS1', 'score': 10.9}, {'connected_gene': 'SRSF10', 'score': 10.75}, {'connected_gene': 'BTBD6P1', 'score': 0.77}, {'connected_gene': 'CNR2', 'score': 0.39}, {'connected_gene': 'GC01M023881', 'score': 0.37}]
chr1 GH01I023915 23915713 23917476 1.29 [{'connected_gene': 'FUCA1', 'score': 4.96}, {'connected_gene': 'CNR2', 'score': 0.77}, {'connected_gene': 'GC01P023921', 'score': 0.44}]
chr1 GH01I023829 23829911 23830777 0.77 [{'connected_gene': 'FUCA1', 'score': 8.36}, {'connected_gene': 'HMGCL', 'score': 7.96}, {'connected_gene': 'GC01P023838', 'score': 0.44}, {'connected_gene': 'LOC105376861', 'score': 0.44}, {'connected_gene': 'PIR41142', 'score': 0.31}]
chr1 GH01I023726 23726589 23729681 1.12 [{'connected_gene': 'FUCA1', 'score': 8.46}, {'connected_gene': 'HMGCL', 'score': 4.71}, {'connected_gene': 'GC01P023723', 'score': 0.77}, {'connected_gene': 'GC01M023736', 'score': 0.44}]
chr1 GH01I023817 23817131 23817280 0.31 [{'connected_gene': 'FUCA1', 'score': 11.45}, {'connected_gene': 'PIR41142', 'score': 0.37}, {'connected_gene': 'GC01P023838', 'score': 0.34}, {'connected_gene': 'HMGCL', 'score': 0.34}]
chr1 GH01I023867 23867343 23869456 2.25 [{'connected_gene': 'FUCA1', 'score': 565.78}, {'connected_gene': 'SRRM1', 'score': 24.81}, {'connected_gene': 'SRSF10', 'score': 19.25}, {'connected_gene': 'RPL11', 'score': 13.7}, {'connected_gene': 'LINC01355', 'score': 13.09}, {'connected_gene': 'ZNF436-AS1', 'score': 12.45}, {'connected_gene': 'PNRC2', 'score': 11.83}, {'connected_gene': 'ELOA', 'score': 11.43}, {'connected_gene': 'HNRNPR', 'score': 9.81}, {'connected_gene': 'GC01M023881', 'score': 0.39}]
chr1 GH01I023719 23719394 23721420 0.8 [{'connected_gene': 'FUCA1', 'score': 6.53}, {'connected_gene': 'GC01P023723', 'score': 0.77}, {'connected_gene': 'GC01M023708', 'score': 0.39}]
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 GH01I023789 23789186 23794550 2.27 [{'connected_gene': 'LYPLA2', 'score': 550.77}, {'connected_gene': 'LOC105376860', 'score': 550.77}, {'connected_gene': 'LINC01355', 'score': 13.67}, {'connected_gene': 'SRSF10', 'score': 12.33}, {'connected_gene': 'FUCA1', 'score': 10.02}, {'connected_gene': 'SRRM1', 'score': 9.93}]
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 GH01I023795 23795009 23795490 0.46 [{'connected_gene': 'LOC105376860', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 10.12}, {'connected_gene': 'LYPLA2', 'score': 0.77}, {'connected_gene': 'GALE', 'score': 0.44}]
chr1 GH01I024641 24641336 24645471 2.39 [{'connected_gene': 'SRRM1', 'score': 573.0}, {'connected_gene': 'SRSF10', 'score': 35.25}, {'connected_gene': 'ENSG00000261349', 'score': 21.38}, {'connected_gene': 'ELOA', 'score': 18.45}, {'connected_gene': 'NCMAP', 'score': 15.33}, {'connected_gene': 'SYF2', 'score': 13.48}, {'connected_gene': 'RPL11', 'score': 11.87}, {'connected_gene': 'PNRC2', 'score': 11.77}, {'connected_gene': 'FUCA1', 'score': 11.21}, {'connected_gene': 'MAN1C1', 'score': 10.09}, {'connected_gene': 'RUNX3', 'score': 1.89}, {'connected_gene': 'GC01P024703', 'score': 0.21}]
chr1 GH01I023930 23930531 23931990 0.83 [{'connected_gene': 'GC01P023930', 'score': 550.77}, {'connected_gene': 'PNRC2', 'score': 12.96}, {'connected_gene': 'FUCA1', 'score': 12.38}, {'connected_gene': 'SRSF10', 'score': 12.06}, {'connected_gene': 'LYPLA2', 'score': 11.39}, {'connected_gene': 'ENSG00000230228', 'score': 0.37}]
chr1 GH01I023723 23723494 23724014 0.57 [{'connected_gene': 'GC01P023723', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 7.78}, {'connected_gene': 'ELOA', 'score': 7.37}, {'connected_gene': 'GC01M023736', 'score': 0.39}]
chr1 GH01I023882 23882357 23883795 0.43 [{'connected_gene': 'GC01M023881', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 6.39}, {'connected_gene': 'PNRC2', 'score': 5.05}, {'connected_gene': 'BTBD6P1', 'score': 0.37}, {'connected_gene': 'CNR2', 'score': 0.29}]
chr1 GH01I023737 23737407 23737720 0.26 [{'connected_gene': 'GC01M023736', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 7.12}, {'connected_gene': 'PNRC2', 'score': 2.23}, {'connected_gene': 'RPL11', 'score': 1.61}, {'connected_gene': 'ELOA', 'score': 0.44}]
chr1 GH01I023904 23904024 23906911 0.8 [{'connected_gene': 'ENSG00000232557', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 5.6}, {'connected_gene': 'NCMAP', 'score': 4.37}, {'connected_gene': 'BTBD6P1', 'score': 0.77}, {'connected_gene': 'CNR2', 'score': 0.44}]
chr1 GH01I023919 23919592 23921627 1.25 [{'connected_gene': 'GC01P023921', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 4.79}, {'connected_gene': 'MYOM3', 'score': 4.79}, {'connected_gene': 'NCMAP', 'score': 4.62}, {'connected_gene': 'CNR2', 'score': 0.44}]
chr1 GH01I023865 23865052 23866260 0.75 [{'connected_gene': 'GC01M023866', 'score': 550.77}, {'connected_gene': 'PIR51704', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 15.68}]
chr1 GH01I023838 23838044 23839260 1.32 [{'connected_gene': 'GC01P023838', 'score': 550.77}, {'connected_gene': 'LOC105376861', 'score': 550.77}, {'connected_gene': 'HMGCL', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 27.0}, {'connected_gene': 'GC01M023866', 'score': 0.31}, {'connected_gene': 'PIR51704', 'score': 0.31}]