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
ENST00000360380 [[47715810, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47778619, 47778828], [47779707, 47779819]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
ENST00000337817 [[47715810, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47779707, 47779819]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
ENST00000371877 [[47715813, 47717594], [47725960, 47726211], [47728574, 47728788], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47779707, 47779812]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728788], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
ENST00000243182 [[47716293, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47778619, 47778807]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
ENST00000396221 [[47716293, 47717594], [47725960, 47726211], [47728574, 47728734], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47778619, 47778807]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728734], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
ENST00000447475 [[47726090, 47726211], [47728574, 47728734], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765640], [47765781, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47778619, 47778693], [47779707, 47779819]] [[47726090, 47726211], [47728574, 47728734], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765640], [47765781, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
ENST00000418131 [[47726101, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47749745]] None
ENST00000436811 [[47735306, 47735538], [47737747, 47737913], [47745912, 47746035], [47746617, 47746729]] [[47735306, 47735538], [47737747, 47737913], [47745912, 47746035], [47746617, 47746729]]
ENST00000433827 [[47765448, 47765824], [47767232, 47767397]] None
ENST00000413565 [[47767905, 47768018], [47770560, 47770989]] [[47767905, 47768018], [47770560, 47770724]]
NM_001282936 [[47715810, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47778619, 47778828], [47779707, 47779819]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
NM_001282937 [[47715810, 47717594], [47725960, 47726211], [47728574, 47728734], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47778619, 47778828], [47779707, 47779819]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728734], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
NM_001282938 [[47715810, 47717594], [47725960, 47726211], [47728574, 47728788], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765640], [47765781, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47778619, 47778828], [47779707, 47779819]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728788], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765640], [47765781, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
NM_001282939 [[47715810, 47717594], [47725960, 47726211], [47728574, 47728734], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765640], [47765781, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47778619, 47778693], [47779707, 47779819]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728734], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765640], [47765781, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
NM_001048166 [[47715810, 47717594], [47725960, 47726211], [47728574, 47728788], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47779707, 47779819]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728788], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
NM_003035 [[47715810, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47776034], [47779707, 47779819]] [[47716807, 47717594], [47725960, 47726211], [47728574, 47728785], [47735306, 47735538], [47737747, 47737913], [47745912, 47746881], [47748016, 47748131], [47753222, 47753332], [47755106, 47755257], [47759129, 47759216], [47761436, 47761520], [47765576, 47765824], [47767232, 47767420], [47767905, 47768018], [47770560, 47770668], [47775947, 47775991]]
Promoter
Chrom Start End Description
chr1 47779729 47779744 CAGE_peak_2_at_STIL_5end
chr1 47779762 47779827 CAGE_peak_1_at_STIL_5end,CAGE_peak_1_at_TAL1_5end
chr1 47779845 47779848 CAGE_peak_3_at_STIL_5end,CAGE_peak_8_at_TAL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I047320 47320172 47321063 0.6 [{'connected_gene': 'TAL1', 'score': 11.64}, {'connected_gene': 'ENSG00000226252', 'score': 10.23}, {'connected_gene': 'GC01M047322', 'score': 0.77}, {'connected_gene': 'STIL', 'score': 0.44}]
chr1 GH01I047253 47253511 47254946 0.72 [{'connected_gene': 'TAL1', 'score': 12.44}, {'connected_gene': 'ENSG00000226252', 'score': 12.42}, {'connected_gene': 'CMPK1', 'score': 11.96}, {'connected_gene': 'LINC00853', 'score': 11.03}, {'connected_gene': 'CYP4A22-AS1', 'score': 11.03}, {'connected_gene': 'FOXD2-AS1', 'score': 9.64}, {'connected_gene': 'FOXD2', 'score': 9.64}, {'connected_gene': 'GC01M047285', 'score': 0.29}, {'connected_gene': 'STIL', 'score': 0.21}]
chr1 GH01I047312 47312493 47315585 2.27 [{'connected_gene': 'STIL', 'score': 550.77}, {'connected_gene': 'EFCAB14-AS1', 'score': 34.66}, {'connected_gene': 'NSUN4', 'score': 20.61}, {'connected_gene': 'MOB3C', 'score': 20.33}, {'connected_gene': 'CMPK1', 'score': 13.1}, {'connected_gene': 'ENSG00000272491', 'score': 11.49}, {'connected_gene': 'LINC01389', 'score': 10.82}, {'connected_gene': 'FOXE3', 'score': 6.48}, {'connected_gene': 'GC01M047303', 'score': 0.44}]
chr1 GH01I047252 47252433 47252753 0.53 [{'connected_gene': 'CMPK1', 'score': 15.85}, {'connected_gene': 'TAL1', 'score': 12.44}, {'connected_gene': 'ENSG00000226252', 'score': 12.42}, {'connected_gene': 'LINC00853', 'score': 11.03}, {'connected_gene': 'CYP4A22-AS1', 'score': 11.03}, {'connected_gene': 'FOXD2-AS1', 'score': 9.65}, {'connected_gene': 'FOXD2', 'score': 9.65}, {'connected_gene': 'GC01M047285', 'score': 0.29}, {'connected_gene': 'STIL', 'score': 0.21}]
chr1 GH01I047351 47351041 47352118 0.76 [{'connected_gene': 'GC01P047350', 'score': 550.77}, {'connected_gene': 'STIL', 'score': 5.69}, {'connected_gene': 'FOXE3', 'score': 5.14}, {'connected_gene': 'CMPK1', 'score': 0.37}, {'connected_gene': 'GC01M047395', 'score': 0.26}]
chr1 GH01I047317 47317171 47318946 0.66 [{'connected_gene': 'ENSG00000226252', 'score': 5.8}, {'connected_gene': 'GC01M047322', 'score': 0.77}, {'connected_gene': 'STIL', 'score': 0.77}]
chr1 GH01I047288 47288201 47288600 0.31 [{'connected_gene': 'GC01M047289', 'score': 550.77}, {'connected_gene': 'GC01M047285', 'score': 550.77}, {'connected_gene': 'STIL', 'score': 0.31}]
chr1 GH01I047289 47289102 47289887 0.69 [{'connected_gene': 'GC01M047289', 'score': 550.77}, {'connected_gene': 'GC01M047285', 'score': 0.77}, {'connected_gene': 'STIL', 'score': 0.31}]

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