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
ENST00000367964 [[161592985, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161600928], [161601675, 161601753]] [[161594304, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161600884]]
ENST00000294800 [[161592991, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161601158]] [[161594304, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161600884]]
ENST00000531221 [[161593779, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161600996]] [[161594304, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161600992]]
ENST00000421702 [[161594012, 161594429], [161595934, 161596192], [161599567, 161599822], [161600157, 161600178], [161600844, 161600948]] [[161594304, 161594429], [161595934, 161596192], [161599567, 161599822], [161600157, 161600178], [161600844, 161600948]]
ENST00000533780 [[161596096, 161596192], [161599567, 161600040]] None
ENST00000534776 [[161596146, 161596192], [161599567, 161599825], [161600157, 161600178], [161600563, 161600822]] [[161596146, 161596192], [161599567, 161599825], [161600157, 161600167]]
ENST00000534489 [[161599679, 161600178], [161600844, 161600916]] None
NM_001271036 [[161592985, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600563, 161600837]] [[161594304, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600167]]
NM_001271037 [[161592985, 161594429], [161599567, 161599825], [161600157, 161600178], [161600563, 161600837]] [[161594304, 161594429], [161599567, 161599825], [161600157, 161600167]]
NM_001244753 [[161592985, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161601252]] [[161594304, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161600992]]
NM_001271035 [[161592985, 161594429], [161595934, 161596192], [161599567, 161599822], [161600157, 161600178], [161600844, 161601252]] [[161594304, 161594429], [161595934, 161596192], [161599567, 161599822], [161600157, 161600178], [161600844, 161600992]]
NM_000570 [[161592985, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161600928], [161601675, 161601753]] [[161594304, 161594429], [161595934, 161596192], [161599567, 161599825], [161600157, 161600178], [161600844, 161600884]]
Promoter
Chrom Start End Description
chr1 161600900 161600923 CAGE_peak_3_at_FCGR3B_5end,CAGE_peak_4_at_FCGR3A_5end
chr1 161600942 161600975 CAGE_peak_1_at_FCGR3B_5end
chr1 161600990 161601003 CAGE_peak_2_at_FCGR3B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161594 161594801 161595600 0.43 [{'connected_gene': 'FCGR2C', 'score': 21.7}, {'connected_gene': 'FCGR3B', 'score': 7.24}, {'connected_gene': 'HSPA7', 'score': 0.39}, {'connected_gene': 'ENSG00000273112', 'score': 0.18}]
chr1 GH01I161605 161605600 161606801 0.88 [{'connected_gene': 'HSPA7', 'score': 550.77}, {'connected_gene': 'FCGR3B', 'score': 14.49}, {'connected_gene': 'FCGR2B', 'score': 13.57}, {'connected_gene': 'TRL-CAA6-1', 'score': 0.44}, {'connected_gene': 'FCGR2C', 'score': 0.34}]
chr1 GH01I161969 161969756 161971201 0.2 [{'connected_gene': 'OLFML2B', 'score': 11.88}, {'connected_gene': 'SDHC', 'score': 4.78}, {'connected_gene': 'FCGR3B', 'score': 4.3}, {'connected_gene': 'GC01P161959', 'score': 0.39}, {'connected_gene': 'PIR31181', 'score': 0.31}]
chr1 GH01I161626 161626001 161627663 0.6 [{'connected_gene': 'FCGR3B', 'score': 14.08}, {'connected_gene': 'FCGR2C', 'score': 4.78}, {'connected_gene': 'SDHC', 'score': 4.5}, {'connected_gene': 'GC01P161621', 'score': 0.44}]
chr1 GH01I161589 161589601 161589800 0.38 [{'connected_gene': 'FCGR3B', 'score': 10.08}, {'connected_gene': 'FCGR2C', 'score': 0.44}, {'connected_gene': 'HSPA7', 'score': 0.37}, {'connected_gene': 'ENSG00000273112', 'score': 0.18}]
chr1 GH01I161653 161653401 161654327 0.72 [{'connected_gene': 'FCGR3B', 'score': 9.21}, {'connected_gene': 'FCGR2B', 'score': 7.17}, {'connected_gene': 'FCGR2C', 'score': 5.71}, {'connected_gene': 'HSPA7', 'score': 5.31}]
chr1 GH01I161637 161637108 161638171 0.54 [{'connected_gene': 'FCGR3B', 'score': 13.57}, {'connected_gene': 'FCGR2B', 'score': 5.98}]
chr1 GH01I161632 161631945 161632004 0.7 [{'connected_gene': 'FCGR3B', 'score': 550.77}, {'connected_gene': 'FCGR2B', 'score': 0.29}]
chr1 GH01I161629 161629801 161630800 0.4 [{'connected_gene': 'FCGR3B', 'score': 550.77}, {'connected_gene': 'FCGR2B', 'score': 10.85}, {'connected_gene': 'GC01P161621', 'score': 0.44}]
chr1 GH01I161631 161631001 161631200 0.9 [{'connected_gene': 'FCGR3B', 'score': 561.28}, {'connected_gene': 'GC01P161621', 'score': 0.44}]
chr1 GH01I161628 161628399 161629258 0.31 [{'connected_gene': 'FCGR3B', 'score': 12.03}, {'connected_gene': 'GC01P161621', 'score': 0.44}]
chr1 GH01I161544 161544401 161550800 1.46 [{'connected_gene': 'FCGR3A', 'score': 550.77}, {'connected_gene': 'FCGR2C', 'score': 27.51}, {'connected_gene': 'FCGR2A', 'score': 12.27}, {'connected_gene': 'FCRLA', 'score': 11.04}, {'connected_gene': 'FCRLB', 'score': 10.83}, {'connected_gene': 'HSPA7', 'score': 9.88}, {'connected_gene': 'FCGR2B', 'score': 8.86}, {'connected_gene': 'RPS23P10', 'score': 7.61}, {'connected_gene': 'FCGR3B', 'score': 7.11}, {'connected_gene': 'TRN-GTT1-1', 'score': 0.44}, {'connected_gene': 'ENSG00000273112', 'score': 0.29}]
chr1 GH01I161642 161642001 161644800 1.17 [{'connected_gene': 'FCGR2B', 'score': 25.31}, {'connected_gene': 'FCGR2C', 'score': 13.24}, {'connected_gene': 'FCRLB', 'score': 11.95}, {'connected_gene': 'FCGR3B', 'score': 11.58}, {'connected_gene': 'HSPA7', 'score': 5.44}]
chr1 GH01I161645 161645742 161648716 0.81 [{'connected_gene': 'FCGR2B', 'score': 26.83}, {'connected_gene': 'FCGR3B', 'score': 13.67}, {'connected_gene': 'FCRLA', 'score': 11.65}]
chr1 GH01I161649 161649999 161651878 0.31 [{'connected_gene': 'FCGR2B', 'score': 28.23}, {'connected_gene': 'FCGR3B', 'score': 6.66}, {'connected_gene': 'HSPA7', 'score': 6.3}, {'connected_gene': 'ATF6', 'score': 5.3}]
chr1 GH01I161661 161661401 161662400 0.4 [{'connected_gene': 'FCGR2B', 'score': 550.77}, {'connected_gene': 'FCGR3B', 'score': 0.31}]
chr1 GH01I161635 161635201 161637000 1 [{'connected_gene': 'FCGR2B', 'score': 28.13}, {'connected_gene': 'FCGR3B', 'score': 8.95}]
chr1 GH01I161638 161638265 161640428 0.69 [{'connected_gene': 'FCGR2B', 'score': 26.66}, {'connected_gene': 'FCGR3B', 'score': 8.89}]
chr1 GH01I161523 161523371 161525201 2.18 [{'connected_gene': 'TRG-GCC2-1', 'score': 550.77}, {'connected_gene': 'HSPA6', 'score': 550.77}, {'connected_gene': 'TRD-GTC10-1', 'score': 550.77}, {'connected_gene': 'PIR56644', 'score': 550.77}, {'connected_gene': 'USP21', 'score': 28.72}, {'connected_gene': 'DUSP12', 'score': 28.63}, {'connected_gene': 'RPS23P10', 'score': 14.48}, {'connected_gene': 'FCGR2C', 'score': 14.23}, {'connected_gene': 'B4GALT3', 'score': 10.67}, {'connected_gene': 'PPOX', 'score': 10.59}, {'connected_gene': 'LOC148430', 'score': 10.5}, {'connected_gene': 'FCGR3B', 'score': 8.43}, {'connected_gene': 'ENSG00000273112', 'score': 0.39}, {'connected_gene': 'FCGR2A', 'score': 0.37}]
chr1 GH01I161539 161539401 161544189 1.5 [{'connected_gene': 'TRN-GTT1-1', 'score': 550.77}, {'connected_gene': 'GC01P161541', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 34.23}, {'connected_gene': 'FCGR2C', 'score': 27.12}, {'connected_gene': 'USP21', 'score': 24.08}, {'connected_gene': 'ARHGAP30', 'score': 12.68}, {'connected_gene': 'FCGR2A', 'score': 11.12}, {'connected_gene': 'FCRLB', 'score': 10.83}, {'connected_gene': 'SLAMF7', 'score': 10.47}, {'connected_gene': 'LY9', 'score': 9.88}, {'connected_gene': 'RPS23P10', 'score': 6.98}, {'connected_gene': 'HSPA7', 'score': 5.97}, {'connected_gene': 'FCGR3B', 'score': 4.84}, {'connected_gene': 'FCGR3A', 'score': 0.44}, {'connected_gene': 'ENSG00000273112', 'score': 0.31}]
chr1 GH01I161528 161528801 161533518 1.79 [{'connected_gene': 'TRL-CAG1-6', 'score': 550.77}, {'connected_gene': 'TRG-TCC2-6', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 26.62}, {'connected_gene': 'USP21', 'score': 23.93}, {'connected_gene': 'FCGR2C', 'score': 20.97}, {'connected_gene': 'FCGR2A', 'score': 16.51}, {'connected_gene': 'PPOX', 'score': 13.32}, {'connected_gene': 'FCRLA', 'score': 11.16}, {'connected_gene': 'FCGR2B', 'score': 9.25}, {'connected_gene': 'HSPA6', 'score': 8.4}, {'connected_gene': 'FCGR3B', 'score': 7.81}, {'connected_gene': 'RPS23P10', 'score': 7.43}, {'connected_gene': 'ARHGAP30', 'score': 6.5}, {'connected_gene': 'FCGR3A', 'score': 5.19}, {'connected_gene': 'USF1', 'score': 3.75}, {'connected_gene': 'FCER1G', 'score': 3.01}, {'connected_gene': 'ATF6', 'score': 2.48}, {'connected_gene': 'OLFML2B', 'score': 2.06}, {'connected_gene': 'ADAMTS4', 'score': 1.95}, {'connected_gene': 'CFAP126', 'score': 1.43}, {'connected_gene': 'PCP4L1', 'score': 1.28}, {'connected_gene': 'ENSG00000273112', 'score': 0.37}]
chr1 GH01I161675 161675635 161677773 0.72 [{'connected_gene': 'ENSG00000234211', 'score': 550.77}, {'connected_gene': 'FCGR3B', 'score': 10.04}, {'connected_gene': 'FCGR2B', 'score': 8.83}, {'connected_gene': 'RPL31P11', 'score': 0.44}]
chr1 GH01I161620 161620801 161625357 1.69 [{'connected_gene': 'GC01P161621', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 43.13}, {'connected_gene': 'USP21', 'score': 33.74}, {'connected_gene': 'FCGR2B', 'score': 27.77}, {'connected_gene': 'FCGR3B', 'score': 16.47}, {'connected_gene': 'DEDD', 'score': 13.23}, {'connected_gene': 'PPOX', 'score': 11.99}, {'connected_gene': 'LOC148430', 'score': 11.44}, {'connected_gene': 'B4GALT3', 'score': 11.27}, {'connected_gene': 'FCGR3A', 'score': 7.97}, {'connected_gene': 'FCGR2A', 'score': 2.66}]
chr1 GH01I161611 161611001 161613600 1.75 [{'connected_gene': 'GC01P161612', 'score': 550.77}, {'connected_gene': 'TRL-CAA6-1', 'score': 550.77}, {'connected_gene': 'GC01P161613', 'score': 550.77}, {'connected_gene': 'USP21', 'score': 32.35}, {'connected_gene': 'FCGR2B', 'score': 27.68}, {'connected_gene': 'DUSP12', 'score': 26.66}, {'connected_gene': 'FCGR2C', 'score': 16.95}, {'connected_gene': 'PPOX', 'score': 13.31}, {'connected_gene': 'FCGR3B', 'score': 12.99}, {'connected_gene': 'ATF6', 'score': 12.15}, {'connected_gene': 'B4GALT3', 'score': 11.46}, {'connected_gene': 'DEDD', 'score': 10.41}, {'connected_gene': 'HSPA6', 'score': 6.42}, {'connected_gene': 'HSPA7', 'score': 5.54}, {'connected_gene': 'FCRLB', 'score': 4.64}, {'connected_gene': 'FCGR3A', 'score': 1.67}]