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
ENST00000367969 [[161511548, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519818]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519634]]
ENST00000443193 [[161511554, 161512989], [161514490, 161514748], [161518210, 161518465], [161518800, 161518821], [161519486, 161519818]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518465], [161518800, 161518821], [161519486, 161519634]]
ENST00000436743 [[161511554, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519588], [161520320, 161520413]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519526]]
ENST00000367967 [[161511585, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519570], [161520320, 161520381]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519526]]
ENST00000426740 [[161511644, 161512989], [161514490, 161514748], [161518210, 161518465], [161518800, 161518821], [161519486, 161519579]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518465], [161518800, 161518821], [161519486, 161519579]]
ENST00000540048 [[161512712, 161512989], [161514490, 161514748], [161518210, 161518468], [161600157, 161600178], [161600844, 161600917]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518468], [161600157, 161600178], [161600844, 161600884]]
ENST00000476031 [[161515188, 161515566], [161518210, 161518468], [161518800, 161518821], [161519486, 161519520]] None
ENST00000442336 [[161518210, 161518465], [161518800, 161518821], [161519486, 161519570], [161520425, 161520527]] [[161518210, 161518465], [161518800, 161518821], [161519486, 161519526]]
NM_000569 [[161511548, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519893]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519841]]
NM_001329122 [[161511548, 161512989], [161518210, 161518468], [161518800, 161518821], [161519486, 161519893]] [[161512801, 161512989], [161518210, 161518468], [161518800, 161518821], [161519486, 161519841]]
NM_001127592 [[161511548, 161512989], [161514490, 161514748], [161518210, 161518465], [161518800, 161518821], [161519486, 161519893]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518465], [161518800, 161518821], [161519486, 161519841]]
NM_001127593 [[161511548, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519588], [161520320, 161520413]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519526]]
NM_001127595 [[161511548, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519570], [161520320, 161520413]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519526]]
NM_001127596 [[161511548, 161512989], [161514490, 161514748], [161518210, 161518465], [161518800, 161518821], [161519486, 161519570], [161520320, 161520413]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518465], [161518800, 161518821], [161519486, 161519526]]
NM_001329120 [[161511548, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519570], [161520425, 161520527]] [[161512801, 161512989], [161514490, 161514748], [161518210, 161518468], [161518800, 161518821], [161519486, 161519526]]
Promoter
Chrom Start End Description
chr1 161519583 161519620 CAGE_peak_1_at_FCGR3A_5end
chr1 161519682 161519691 CAGE_peak_7_at_FCGR3A_5end
chr1 161600900 161600923 CAGE_peak_3_at_FCGR3B_5end,CAGE_peak_4_at_FCGR3A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161181 161181277 161188841 1.55 [{'connected_gene': 'B4GALT3', 'score': 12.21}, {'connected_gene': 'ADAMTS4', 'score': 8.6}, {'connected_gene': 'SLAMF7', 'score': 7.4}, {'connected_gene': 'PPOX', 'score': 6.88}, {'connected_gene': 'NIT1', 'score': 6.84}, {'connected_gene': 'FCER1G', 'score': 4.69}, {'connected_gene': 'CD48', 'score': 3.93}, {'connected_gene': 'ARHGAP30', 'score': 3.86}, {'connected_gene': 'CD244', 'score': 2.86}, {'connected_gene': 'FCGR3A', 'score': 2.69}, {'connected_gene': 'HSPA6', 'score': 1.82}, {'connected_gene': 'USF1', 'score': 1.7}, {'connected_gene': 'FCGR2A', 'score': 1.59}, {'connected_gene': 'LY9', 'score': 1.15}, {'connected_gene': 'NDUFS2', 'score': 0.39}]
chr1 GH01I161738 161738404 161741879 1.59 [{'connected_gene': 'FCRLA', 'score': 16.05}, {'connected_gene': 'FCGR2A', 'score': 15.63}, {'connected_gene': 'DUSP12', 'score': 5.37}, {'connected_gene': 'ATF6', 'score': 5.18}, {'connected_gene': 'HSPA6', 'score': 3.07}, {'connected_gene': 'FCGR3A', 'score': 1.2}, {'connected_gene': 'RN7SL466P', 'score': 0.77}]
chr1 GH01I161066 161066049 161071180 2.43 [{'connected_gene': 'ARHGAP30', 'score': 568.4}, {'connected_gene': 'FCGR2A', 'score': 38.56}, {'connected_gene': 'TSTD1', 'score': 31.5}, {'connected_gene': 'DUSP12', 'score': 27.0}, {'connected_gene': 'USP21', 'score': 24.96}, {'connected_gene': 'PPOX', 'score': 16.24}, {'connected_gene': 'F11R', 'score': 16.13}, {'connected_gene': 'DEDD', 'score': 12.65}, {'connected_gene': 'NECTIN4', 'score': 12.0}, {'connected_gene': 'ENSG00000232879', 'score': 11.75}, {'connected_gene': 'LOC100287049', 'score': 11.53}, {'connected_gene': 'COPA', 'score': 11.48}, {'connected_gene': 'KLHDC9', 'score': 11.19}, {'connected_gene': 'USF1', 'score': 4.63}, {'connected_gene': 'FCGR3A', 'score': 3.43}, {'connected_gene': 'CD244', 'score': 3.34}, {'connected_gene': 'FCER1G', 'score': 3.26}, {'connected_gene': 'CD48', 'score': 2.45}, {'connected_gene': 'GC01P161070', 'score': 0.77}, {'connected_gene': 'GC01P161046', 'score': 0.34}]
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 GH01I162002 162002580 162005154 1.08 [{'connected_gene': 'FCGR3A', 'score': 7.62}, {'connected_gene': 'OLFML2B', 'score': 5.35}, {'connected_gene': 'FCGR2A', 'score': 1.17}, {'connected_gene': 'PIR31181', 'score': 0.77}]
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 GH01I161554 161554201 161556022 1.03 [{'connected_gene': 'ENSG00000224515', 'score': 550.77}, {'connected_gene': 'FCGR2C', 'score': 23.16}, {'connected_gene': 'HSPA7', 'score': 5.87}, {'connected_gene': 'FCGR3A', 'score': 0.77}, {'connected_gene': 'ENSG00000273112', 'score': 0.26}]
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}]