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
ENST00000376438 [[85857904, 85858130], [85862969, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86152999, 86153461]] [[85858116, 85858130], [85862969, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86152999, 86153146]]
ENST00000304195 [[85859536, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86152999, 86153353]] [[85862832, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86152999, 86153146]]
ENST00000328788 [[85857904, 85858130], [85862969, 85863431], [85881926, 85882202]] [[85858116, 85858130], [85862969, 85863431], [85881926, 85882092]]
ENST00000376434 [[85857904, 85858130], [85862969, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85946766, 85946876]] [[85858116, 85858130], [85862969, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85946766, 85946780]]
ENST00000465485 [[85862886, 85863431], [85896464, 85896523]] None
ENST00000431299 [[85912446, 85912731], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926881]] [[85912685, 85912731], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926881]]
NM_001244959 [[85857904, 85858130], [85862969, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86152999, 86153348]] [[85858116, 85858130], [85862969, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86152999, 86153146]]
NM_001244960 [[85859536, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86082532, 86082657]] [[85862832, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86082532, 86082547]]
NM_174938 [[85859536, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86152999, 86153348]] [[85862832, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85950430, 85950554], [85958104, 85958202], [85964593, 85964672], [85987827, 85987870], [86004518, 86004623], [86152999, 86153146]]
NM_001244962 [[85857904, 85858130], [85862969, 85863431], [85881926, 85882202]] [[85858116, 85858130], [85862969, 85863431], [85881926, 85882092]]
NM_001244961 [[85857904, 85858130], [85862969, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85946766, 85946876]] [[85858116, 85858130], [85862969, 85863431], [85905517, 85905642], [85913662, 85913731], [85914026, 85914101], [85924450, 85924539], [85925399, 85925463], [85926801, 85926890], [85928574, 85928662], [85946766, 85946780]]
Promoter
Chrom Start End Description
chr9 85882100 85882106 CAGE_peak_12_at_FRMD3_5end
chr9 85882145 85882188 CAGE_peak_2_at_FRMD3_5end
chr9 85896513 85896541 CAGE_peak_3_at_FRMD3_5end
chr9 86153218 86153343 CAGE_peak_1_at_FRMD3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I083508 83508146 83508295 0.64 [{'connected_gene': 'KIF27', 'score': 4.71}, {'connected_gene': 'HNRNPK', 'score': 1.74}, {'connected_gene': 'UBQLN1', 'score': 1.26}, {'connected_gene': 'PIR58953', 'score': 0.77}, {'connected_gene': 'GC09M083513', 'score': 0.77}, {'connected_gene': 'FRMD3', 'score': 0.29}, {'connected_gene': 'GC09M083455', 'score': 0.21}]
chr9 GH09I083544 83544201 83544401 0.59 [{'connected_gene': 'IDNK', 'score': 9.77}, {'connected_gene': 'FRMD3', 'score': 0.44}, {'connected_gene': 'LOC105376113', 'score': 0.26}]
chr9 GH09I083545 83544446 83544615 0.69 [{'connected_gene': 'IDNK', 'score': 9.77}, {'connected_gene': 'FRMD3', 'score': 0.44}, {'connected_gene': 'LOC105376113', 'score': 0.26}]
chr9 GH09I083334 83334346 83334515 0.79 [{'connected_gene': 'IDNK', 'score': 10.6}, {'connected_gene': 'ENSG00000237529', 'score': 0.22}, {'connected_gene': 'GC09M083455', 'score': 0.14}, {'connected_gene': 'FRMD3', 'score': 0.08}]
chr9 GH09I083271 83271096 83272303 0.57 [{'connected_gene': 'FRMD3', 'score': 5.28}, {'connected_gene': 'C9orf64', 'score': 5.21}, {'connected_gene': 'GC09P083268', 'score': 0.77}, {'connected_gene': 'RNU4-29P', 'score': 0.77}]
chr9 GH09I083500 83500316 83507325 0.49 [{'connected_gene': 'FRMD3', 'score': 16.79}, {'connected_gene': 'IDNK', 'score': 9.39}, {'connected_gene': 'PIR58953', 'score': 0.44}, {'connected_gene': 'GC09M083513', 'score': 0.44}, {'connected_gene': 'GC09M083455', 'score': 0.22}]
chr9 GH09I083470 83470602 83474644 1.09 [{'connected_gene': 'FRMD3', 'score': 17.41}, {'connected_gene': 'GC09M083455', 'score': 0.31}, {'connected_gene': 'PIR58953', 'score': 0.28}, {'connected_gene': 'GC09M083513', 'score': 0.28}]
chr9 GH09I083354 83354914 83355431 0.38 [{'connected_gene': 'FRMD3', 'score': 6.88}, {'connected_gene': 'ENSG00000237529', 'score': 0.18}, {'connected_gene': 'GC09M083455', 'score': 0.16}]
chr9 GH09I083467 83467726 83467785 0.5 [{'connected_gene': 'FRMD3', 'score': 550.19}, {'connected_gene': 'GC09M083455', 'score': 0.34}, {'connected_gene': 'PIR58953', 'score': 0.26}, {'connected_gene': 'GC09M083513', 'score': 0.26}]
chr9 GH09I083284 83284505 83287161 0.2 [{'connected_gene': 'FRMD3', 'score': 4.35}, {'connected_gene': 'ENSG00000237529', 'score': 0.44}, {'connected_gene': 'GC09M083455', 'score': 0.1}]
chr9 GH09I083280 83280402 83282322 0.76 [{'connected_gene': 'FRMD3', 'score': 6.2}, {'connected_gene': 'ENSG00000237529', 'score': 0.77}, {'connected_gene': 'GC09M083455', 'score': 0.1}]
chr9 GH09I083537 83537600 83539335 2.12 [{'connected_gene': 'FRMD3', 'score': 550.77}, {'connected_gene': 'PIR58953', 'score': 0.31}, {'connected_gene': 'GC09M083513', 'score': 0.31}]
chr9 GH09I083527 83527006 83527155 0.92 [{'connected_gene': 'FRMD3', 'score': 5.53}, {'connected_gene': 'PIR58953', 'score': 0.39}, {'connected_gene': 'GC09M083513', 'score': 0.39}]
chr9 GH09I083509 83509116 83510052 0.4 [{'connected_gene': 'FRMD3', 'score': 5.45}, {'connected_gene': 'PIR58953', 'score': 0.77}, {'connected_gene': 'GC09M083513', 'score': 0.77}, {'connected_gene': 'GC09M083455', 'score': 0.21}]
chr9 GH09I083441 83441466 83441595 0.2 [{'connected_gene': 'FRMD3', 'score': 19.7}, {'connected_gene': 'GC09M083455', 'score': 0.77}, {'connected_gene': 'ENSG00000237529', 'score': 0.1}]
chr9 GH09I083570 83570014 83571385 0.43 [{'connected_gene': 'LOC105376113', 'score': 0.37}, {'connected_gene': 'FRMD3', 'score': 0.29}]
chr9 GH09I083266 83266129 83268177 1.41 [{'connected_gene': 'GC09P083268', 'score': 550.77}, {'connected_gene': 'FRMD3', 'score': 550.06}, {'connected_gene': 'LOC102723989', 'score': 0.25}, {'connected_gene': 'ENSG00000229109', 'score': 0.25}]
chr9 GH09I083392 83392366 83392515 0.2 [{'connected_gene': 'GC09M083455', 'score': 0.23}, {'connected_gene': 'ENSG00000237529', 'score': 0.13}, {'connected_gene': 'FRMD3', 'score': 0.11}]
chr9 GH09I083469 83469926 83470015 0.2 [{'connected_gene': 'GC09M083455', 'score': 0.34}, {'connected_gene': 'PIR58953', 'score': 0.26}, {'connected_gene': 'GC09M083513', 'score': 0.26}, {'connected_gene': 'FRMD3', 'score': 0.2}]
chr9 GH09I083510 83510756 83511962 0.85 [{'connected_gene': 'PIR58953', 'score': 550.77}, {'connected_gene': 'GC09M083513', 'score': 550.77}, {'connected_gene': 'FRMD3', 'score': 0.31}, {'connected_gene': 'GC09M083455', 'score': 0.2}]
chr9 GH09I083299 83299275 83300400 0.72 [{'connected_gene': 'ENSG00000237529', 'score': 0.34}, {'connected_gene': 'GC09M083455', 'score': 0.11}, {'connected_gene': 'FRMD3', 'score': 0.07}]
chr9 GH09I083304 83304441 83305535 0.69 [{'connected_gene': 'ENSG00000237529', 'score': 0.31}, {'connected_gene': 'GC09M083455', 'score': 0.11}, {'connected_gene': 'FRMD3', 'score': 0.07}]
chr9 GH09I083448 83448293 83449647 0.43 [{'connected_gene': 'GC09M083455', 'score': 0.77}, {'connected_gene': 'PIR58953', 'score': 0.21}, {'connected_gene': 'GC09M083513', 'score': 0.21}, {'connected_gene': 'FRMD3', 'score': 0.17}]
chr9 GH09I083433 83433801 83434000 0.31 [{'connected_gene': 'GC09M083455', 'score': 0.39}, {'connected_gene': 'FRMD3', 'score': 0.15}, {'connected_gene': 'ENSG00000237529', 'score': 0.1}]
chr9 GH09I083306 83306770 83307484 0.4 [{'connected_gene': 'ENSG00000237529', 'score': 0.29}, {'connected_gene': 'GC09M083455', 'score': 0.12}, {'connected_gene': 'FRMD3', 'score': 0.07}]
chr9 GH09I083327 83327426 83327595 0.43 [{'connected_gene': 'ENSG00000237529', 'score': 0.23}, {'connected_gene': 'GC09M083455', 'score': 0.13}, {'connected_gene': 'FRMD3', 'score': 0.08}]
chr9 GH09I083520 83520818 83522090 0.51 [{'connected_gene': 'PIR58953', 'score': 0.44}, {'connected_gene': 'GC09M083513', 'score': 0.44}, {'connected_gene': 'FRMD3', 'score': 0.37}]
chr9 GH09I083431 83431557 83432895 1.04 [{'connected_gene': 'GC09M083455', 'score': 0.39}, {'connected_gene': 'FRMD3', 'score': 0.14}, {'connected_gene': 'ENSG00000237529', 'score': 0.1}]
chr9 GH09I083512 83512449 83513492 0.2 [{'connected_gene': 'PIR58953', 'score': 550.77}, {'connected_gene': 'GC09M083513', 'score': 550.77}, {'connected_gene': 'FRMD3', 'score': 5.49}]
chr9 GH09I083403 83403986 83404135 0.2 [{'connected_gene': 'GC09M083455', 'score': 0.26}, {'connected_gene': 'ENSG00000237529', 'score': 0.13}, {'connected_gene': 'FRMD3', 'score': 0.12}]
chr9 GH09I083219 83219000 83222074 1.31 [{'connected_gene': 'ENSG00000229109', 'score': 556.01}, {'connected_gene': 'LOC102723989', 'score': 550.77}, {'connected_gene': 'FRMD3', 'score': 6.48}, {'connected_gene': 'GC09P083268', 'score': 0.25}]