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
ENST00000531188 [[75110529, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115912], [75116657, 75117957]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115909]]
ENST00000529173 [[75110558, 75110621], [75111737, 75111868], [75112683, 75113490], [75115063, 75115251], [75115715, 75115899]] None
ENST00000528439 [[75110561, 75110621], [75111737, 75111868], [75112683, 75112777], [75115803, 75115912], [75116657, 75116736]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75115803, 75115824]]
ENST00000530164 [[75110562, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75114989]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113494]]
ENST00000530721 [[75110562, 75110621], [75111737, 75111821], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115912], [75116657, 75116736]] [[75110591, 75110621], [75111737, 75111821], [75112683, 75112704]]
ENST00000422465 [[75110563, 75110621], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115912], [75116657, 75116928]] [[75115091, 75115251], [75115715, 75115866]]
ENST00000278572 [[75110573, 75110621], [75111737, 75111868], [75112683, 75112777], [75113347, 75113490], [75115063, 75115251], [75115715, 75115912], [75116626, 75116732]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75113347, 75113490], [75115063, 75115251], [75115715, 75115909]]
ENST00000532872 [[75110573, 75110621], [75111737, 75111868], [75112683, 75112777], [75115063, 75115251], [75115715, 75115912], [75116657, 75116736]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75115063, 75115156]]
ENST00000534440 [[75110574, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113423], [75115715, 75115912], [75116657, 75116724]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113423], [75115715, 75115909]]
ENST00000527446 [[75110574, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115912], [75132770, 75133324]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115909]]
ENST00000526608 [[75110580, 75110621], [75111737, 75111868], [75112683, 75112769], [75113423, 75113490], [75115063, 75115251], [75115715, 75115912]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112769], [75113423, 75113490], [75115063, 75115251], [75115715, 75115909]]
ENST00000527273 [[75110585, 75110621], [75111737, 75111868], [75112683, 75112749], [75113423, 75113490], [75115063, 75115153]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112749], [75113423, 75113490], [75115063, 75115153]]
ENST00000524851 [[75110586, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75116038]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115909]]
ENST00000526248 [[75110600, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115097, 75115251], [75115715, 75115912], [75116657, 75116736]] [[75110600, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115097, 75115164]]
ENST00000529285 [[75110713, 75110884], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115715, 75115774]] None
ENST00000534555 [[75110742, 75110910], [75111737, 75111868], [75112683, 75112771]] None
ENST00000528847 [[75111447, 75111629], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115200]] [[75115091, 75115200]]
ENST00000525933 [[75111735, 75111868], [75115063, 75115251], [75115715, 75116701]] [[75111735, 75111868], [75115063, 75115251], [75115715, 75115909]]
ENST00000525690 [[75111735, 75111821], [75115192, 75115251], [75115715, 75115912], [75116657, 75116736]] [[75111735, 75111821], [75115192, 75115207]]
ENST00000530170 [[75111738, 75111868], [75112683, 75112777], [75113395, 75113490], [75115715, 75115912], [75116657, 75116672]] [[75111738, 75111868], [75112683, 75112777], [75113395, 75113490], [75115715, 75115767]]
NM_001260507 [[75110534, 75110621], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115912], [75116657, 75117957]] [[75115091, 75115251], [75115715, 75115909]]
NM_001005 [[75110534, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115912], [75116657, 75117957]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115909]]
NM_001260506 [[75110534, 75110621], [75111737, 75111868], [75112683, 75112777], [75113347, 75113490], [75115063, 75115251], [75115715, 75115912], [75116626, 75117957]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75113347, 75113490], [75115063, 75115251], [75115715, 75115909]]
NM_001256802 [[75110534, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115912], [75132770, 75133346]] [[75110591, 75110621], [75111737, 75111868], [75112683, 75112777], [75113395, 75113490], [75115063, 75115251], [75115715, 75115909]]
Promoter
Chrom Start End Description
chr11 75110555 75110574 CAGE_peak_1_at_RPS3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I075556 75556674 75567142 2.25 [{'connected_gene': 'SERPINH1', 'score': 556.14}, {'connected_gene': 'RPS3', 'score': 23.55}, {'connected_gene': 'RNF169', 'score': 21.42}, {'connected_gene': 'EMSY', 'score': 14.12}, {'connected_gene': 'LOC105369391', 'score': 11.7}, {'connected_gene': 'SNORD15B', 'score': 11.67}, {'connected_gene': 'GDPD5', 'score': 11.34}, {'connected_gene': 'MAP6', 'score': 11.09}, {'connected_gene': 'KLHL35', 'score': 10.69}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'MOGAT2', 'score': 9.73}, {'connected_gene': 'RPS12P22', 'score': 4.39}]
chr11 GH11I075536 75536195 75538611 1.58 [{'connected_gene': 'GDPD5', 'score': 5.32}, {'connected_gene': 'RPS3', 'score': 4.25}, {'connected_gene': 'UVRAG', 'score': 3.25}, {'connected_gene': 'SERPINH1', 'score': 0.34}]
chr11 GH11I075398 75398897 75403686 2.11 [{'connected_gene': 'RPS3', 'score': 588.89}, {'connected_gene': 'SNORD15A', 'score': 550.77}, {'connected_gene': 'GC11P075414', 'score': 550.77}, {'connected_gene': 'GC11P075411', 'score': 550.77}, {'connected_gene': 'GC11P075418', 'score': 550.77}, {'connected_gene': 'PIR55667', 'score': 550.77}, {'connected_gene': 'GC11P075412', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 49.45}, {'connected_gene': 'RNF169', 'score': 38.63}, {'connected_gene': 'KLHL35', 'score': 28.88}, {'connected_gene': 'SERPINH1', 'score': 14.74}, {'connected_gene': 'SNORD15B', 'score': 12.34}, {'connected_gene': 'UVRAG', 'score': 12.04}, {'connected_gene': 'GDPD5', 'score': 10.99}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'GC11P075416', 'score': 0.77}]
chr11 GH11I076268 76268884 76271369 1.03 [{'connected_gene': 'RPS3', 'score': 14.29}, {'connected_gene': 'EMSY', 'score': 13.41}, {'connected_gene': 'SNORD15B', 'score': 12.36}, {'connected_gene': 'ENSG00000255434', 'score': 4.91}, {'connected_gene': 'LOC105369395', 'score': 0.39}, {'connected_gene': 'PIR48934', 'score': 0.31}]
chr11 GH11I075371 75371494 75373996 1.14 [{'connected_gene': 'RPS3', 'score': 14.57}, {'connected_gene': 'RNF169', 'score': 14.45}, {'connected_gene': 'SNORD15B', 'score': 12.63}, {'connected_gene': 'POLD3', 'score': 12.46}, {'connected_gene': 'RN7SL239P', 'score': 10.23}, {'connected_gene': 'ARRB1', 'score': 7.72}]
chr11 GH11I075370 75369588 75370665 1.13 [{'connected_gene': 'RPS3', 'score': 12.37}, {'connected_gene': 'NEU3', 'score': 1.61}, {'connected_gene': 'ARRB1', 'score': 0.37}]
chr11 GH11I075365 75365630 75367804 1.19 [{'connected_gene': 'MIR326', 'score': 12.03}, {'connected_gene': 'RPS3', 'score': 12.0}, {'connected_gene': 'SNORD15B', 'score': 11.16}, {'connected_gene': 'ARRB1', 'score': 7.73}]
chr11 GH11I075369 75369159 75369336 0.78 [{'connected_gene': 'MIR326', 'score': 12.03}, {'connected_gene': 'SNORD15B', 'score': 11.16}, {'connected_gene': 'ARRB1', 'score': 1.91}, {'connected_gene': 'RPS3', 'score': 0.29}]
chr11 GH11I075356 75356737 75356886 0.31 [{'connected_gene': 'MIR326', 'score': 11.44}, {'connected_gene': 'SNORD15B', 'score': 10.89}, {'connected_gene': 'ARRB1', 'score': 0.77}, {'connected_gene': 'RPS3', 'score': 0.26}]
chr11 GH11I075389 75389337 75389401 0.38 [{'connected_gene': 'ARRB1', 'score': 12.55}, {'connected_gene': 'GDPD5', 'score': 11.17}, {'connected_gene': 'MIR326', 'score': 10.83}, {'connected_gene': 'KLHL35', 'score': 4.56}, {'connected_gene': 'RPS3', 'score': 0.39}]
chr11 GH11I075322 75322516 75327200 1.23 [{'connected_gene': 'ARRB1', 'score': 5.92}, {'connected_gene': 'RPS3', 'score': 5.54}, {'connected_gene': 'LOC105369391', 'score': 4.11}, {'connected_gene': 'GC11M075326', 'score': 0.77}, {'connected_gene': 'ENSG00000254963', 'score': 0.21}]
chr11 GH11I075321 75321857 75322006 0.51 [{'connected_gene': 'ARRB1', 'score': 11.89}, {'connected_gene': 'RPS3', 'score': 5.1}, {'connected_gene': 'GC11M075326', 'score': 0.44}, {'connected_gene': 'ENSG00000254963', 'score': 0.22}]
chr11 GH11I075384 75384321 75385226 1.08 [{'connected_gene': 'ARRB1', 'score': 12.84}, {'connected_gene': 'MIR326', 'score': 11.82}, {'connected_gene': 'KLHL35', 'score': 10.99}, {'connected_gene': 'GDPD5', 'score': 10.45}, {'connected_gene': 'LOC105369391', 'score': 9.69}, {'connected_gene': 'RPS3', 'score': 0.39}]
chr11 GH11I075385 75385353 75389199 1.1 [{'connected_gene': 'ARRB1', 'score': 20.23}, {'connected_gene': 'MIR326', 'score': 11.8}, {'connected_gene': 'KLHL35', 'score': 11.39}, {'connected_gene': 'GDPD5', 'score': 11.17}, {'connected_gene': 'LOC105369391', 'score': 9.69}, {'connected_gene': 'RPS3', 'score': 0.39}]
chr11 GH11I075382 75382438 75384026 0.72 [{'connected_gene': 'ARRB1', 'score': 12.84}, {'connected_gene': 'MIR326', 'score': 11.82}, {'connected_gene': 'SNORD15B', 'score': 11.38}, {'connected_gene': 'KLHL35', 'score': 10.98}, {'connected_gene': 'GDPD5', 'score': 10.45}, {'connected_gene': 'LOC105369391', 'score': 9.69}, {'connected_gene': 'RPS3', 'score': 0.37}]
chr11 GH11I075379 75379935 75381490 1.18 [{'connected_gene': 'ARRB1', 'score': 12.86}, {'connected_gene': 'MIR326', 'score': 11.82}, {'connected_gene': 'SNORD15B', 'score': 11.38}, {'connected_gene': 'KLHL35', 'score': 10.98}, {'connected_gene': 'GDPD5', 'score': 10.45}, {'connected_gene': 'LOC105369391', 'score': 9.69}, {'connected_gene': 'RPS3', 'score': 0.37}]
chr11 GH11I075327 75327294 75353678 2.83 [{'connected_gene': 'ARRB1', 'score': 561.78}, {'connected_gene': 'POLD3', 'score': 27.02}, {'connected_gene': 'GDPD5', 'score': 14.11}, {'connected_gene': 'SNORD15B', 'score': 10.76}, {'connected_gene': 'KLHL35', 'score': 10.37}, {'connected_gene': 'XRRA1', 'score': 10.15}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'NEU3', 'score': 6.23}, {'connected_gene': 'RPS3', 'score': 5.72}, {'connected_gene': 'ENSG00000254974', 'score': 4.77}, {'connected_gene': 'UVRAG', 'score': 3.32}, {'connected_gene': 'SPCS2', 'score': 2.35}, {'connected_gene': 'DGAT2', 'score': 1.66}, {'connected_gene': 'MIR326', 'score': 0.44}, {'connected_gene': 'PIR38786', 'score': 0.39}, {'connected_gene': 'GC11M075328', 'score': 0.39}, {'connected_gene': 'GC11M075327', 'score': 0.39}]
chr11 GH11I075767 75767895 75769835 2.25 [{'connected_gene': 'LOC283214', 'score': 550.77}, {'connected_gene': 'DGAT2', 'score': 550.44}, {'connected_gene': 'RPS3', 'score': 25.09}, {'connected_gene': 'EMSY', 'score': 23.4}, {'connected_gene': 'SERPINH1', 'score': 21.42}, {'connected_gene': 'SNORD15B', 'score': 12.39}, {'connected_gene': 'MOGAT2', 'score': 11.07}, {'connected_gene': 'RN7SL239P', 'score': 10.23}, {'connected_gene': 'ENSG00000255363', 'score': 10.03}, {'connected_gene': 'ENSG00000254826', 'score': 0.44}]
chr11 GH11I075417 75417596 75424237 1.14 [{'connected_gene': 'KLHL35', 'score': 18.32}, {'connected_gene': 'RPS3', 'score': 17.14}, {'connected_gene': 'ENSG00000254837', 'score': 4.76}, {'connected_gene': 'GC11M075423', 'score': 0.77}, {'connected_gene': 'SNORD15B', 'score': 0.37}]
chr11 GH11I075413 75413033 75415271 0.43 [{'connected_gene': 'KLHL35', 'score': 18.18}, {'connected_gene': 'SNORD15B', 'score': 0.44}, {'connected_gene': 'GC11M075423', 'score': 0.39}, {'connected_gene': 'RPS3', 'score': 0.39}]
chr11 GH11I074747 74747610 74750509 2.05 [{'connected_gene': 'RNF169', 'score': 565.2}, {'connected_gene': 'XRRA1', 'score': 119.21}, {'connected_gene': 'ARPC3P4', 'score': 18.64}, {'connected_gene': 'RPS3', 'score': 14.29}, {'connected_gene': 'ENSG00000206913', 'score': 14.25}, {'connected_gene': 'C2CD3', 'score': 12.83}, {'connected_gene': 'POLD3', 'score': 12.5}, {'connected_gene': 'SNORD15B', 'score': 12.36}, {'connected_gene': 'P4HA3', 'score': 11.83}, {'connected_gene': 'LOC105369391', 'score': 10.57}, {'connected_gene': 'RN7SL239P', 'score': 10.35}, {'connected_gene': 'ENSG00000254837', 'score': 10.17}, {'connected_gene': 'ENSG00000278879', 'score': 0.18}]
chr11 GH11I075029 75029695 75032716 1.48 [{'connected_gene': 'XRRA1', 'score': 103.46}, {'connected_gene': 'ENSG00000206913', 'score': 22.3}, {'connected_gene': 'POLD3', 'score': 22.06}, {'connected_gene': 'RPS3', 'score': 14.04}, {'connected_gene': 'RNF169', 'score': 13.01}, {'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'SNORD15B', 'score': 11.62}, {'connected_gene': 'OR2AT4', 'score': 11.23}, {'connected_gene': 'SLCO2B1', 'score': 11.0}, {'connected_gene': 'RN7SL239P', 'score': 10.3}, {'connected_gene': 'ARRB1', 'score': 1.33}, {'connected_gene': 'PIR37723', 'score': 0.39}, {'connected_gene': 'PIR50270', 'score': 0.37}]
chr11 GH11I075445 75445416 75445565 0.81 [{'connected_gene': 'SNORD15B', 'score': 23.54}, {'connected_gene': 'RPS3', 'score': 14.23}, {'connected_gene': 'EMSY', 'score': 14.11}, {'connected_gene': 'POLD3', 'score': 13.31}, {'connected_gene': 'RNF169', 'score': 12.98}, {'connected_gene': 'GDPD5', 'score': 12.36}, {'connected_gene': 'SERPINH1', 'score': 10.83}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'PIR48197', 'score': 0.77}, {'connected_gene': 'GC11M075443', 'score': 0.77}, {'connected_gene': 'ENSG00000254460', 'score': 0.21}]
chr11 GH11I075406 75406236 75406706 0.92 [{'connected_gene': 'SNORD15B', 'score': 0.77}, {'connected_gene': 'RPS3', 'score': 0.44}, {'connected_gene': 'GC11M075423', 'score': 0.37}]
chr11 GH11I075407 75407957 75408126 0.69 [{'connected_gene': 'SNORD15B', 'score': 0.77}, {'connected_gene': 'RPS3', 'score': 0.44}, {'connected_gene': 'GC11M075423', 'score': 0.37}]
chr11 GH11I075409 75405694 75405821 0.38 [{'connected_gene': 'SNORD15B', 'score': 550.77}, {'connected_gene': 'GC11P075416', 'score': 550.77}, {'connected_gene': 'RPS3', 'score': 0.44}, {'connected_gene': 'GC11M075423', 'score': 0.37}]
chr11 GH11I075408 75406997 75407046 0.49 [{'connected_gene': 'SNORD15B', 'score': 0.77}, {'connected_gene': 'RPS3', 'score': 0.44}, {'connected_gene': 'GC11M075423', 'score': 0.37}]
chr11 GH11I075404 75404517 75404666 0.38 [{'connected_gene': 'SNORD15B', 'score': 550.77}, {'connected_gene': 'GC11P075416', 'score': 550.77}, {'connected_gene': 'RPS3', 'score': 0.44}, {'connected_gene': 'GC11M075423', 'score': 0.34}]
chr11 GH11I075405 75404257 75404506 0.43 [{'connected_gene': 'SNORD15B', 'score': 550.77}, {'connected_gene': 'GC11P075416', 'score': 550.77}, {'connected_gene': 'SNORD15A', 'score': 0.77}, {'connected_gene': 'RPS3', 'score': 0.77}, {'connected_gene': 'PIR55667', 'score': 0.77}, {'connected_gene': 'GC11P075412', 'score': 0.77}]
chr11 GH11I074988 74988152 74990119 1.98 [{'connected_gene': 'NEU3', 'score': 550.77}, {'connected_gene': 'XRRA1', 'score': 17.46}, {'connected_gene': 'POLD3', 'score': 13.08}, {'connected_gene': 'SPCS2', 'score': 11.58}, {'connected_gene': 'RPS3', 'score': 11.29}, {'connected_gene': 'RNF169', 'score': 10.24}, {'connected_gene': 'ENSG00000206913', 'score': 10.16}, {'connected_gene': 'PIRC52', 'score': 0.77}]
chr11 GH11I076233 76233278 76237530 1.73 [{'connected_gene': 'TRP-TGG2-1', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-4', 'score': 550.77}, {'connected_gene': 'PIR59119', 'score': 550.77}, {'connected_gene': 'GC11M076236', 'score': 550.77}, {'connected_gene': 'EMSY', 'score': 34.32}, {'connected_gene': 'RPS3', 'score': 23.48}, {'connected_gene': 'WNT11', 'score': 13.18}, {'connected_gene': 'GVQW3', 'score': 11.62}, {'connected_gene': 'SNORD15B', 'score': 11.59}, {'connected_gene': 'ENSG00000272301', 'score': 11.12}, {'connected_gene': 'ENSG00000255362', 'score': 6.8}]

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