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
ENST00000261839 [[52484518, 52486251], [52487573, 52487654], [52488505, 52488680], [52497061, 52497344], [52498012, 52498163], [52500750, 52500840], [52503926, 52504081], [52505384, 52505483], [52506799, 52506887], [52510715, 52510884], [52511955, 52512019], [52513358, 52513452], [52515740, 52515921], [52517097, 52517178], [52517271, 52517335], [52517635, 52517729], [52521329, 52521510], [52524818, 52524882], [52527866, 52527960], [52529678, 52529843], [52531929, 52532076], [52534244, 52534410], [52536552, 52536764], [52537550, 52537662], [52538152, 52538239], [52539113, 52539211], [52539654, 52539789], [52540896, 52540980], [52543586, 52543712], [52545513, 52545654], [52548835, 52548917], [52553058, 52553324], [52556386, 52556493], [52561949, 52562057], [52563959, 52564041], [52564776, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587995]] [[52486098, 52486251], [52487573, 52487654], [52488505, 52488680], [52497061, 52497344], [52498012, 52498163], [52500750, 52500840], [52503926, 52504081], [52505384, 52505483], [52506799, 52506887], [52510715, 52510884], [52511955, 52512019], [52513358, 52513452], [52515740, 52515921], [52517097, 52517178], [52517271, 52517335], [52517635, 52517729], [52521329, 52521510], [52524818, 52524882], [52527866, 52527960], [52529678, 52529843], [52531929, 52532076], [52534244, 52534410], [52536552, 52536764], [52537550, 52537662], [52538152, 52538239], [52539113, 52539211], [52539654, 52539789], [52540896, 52540980], [52543586, 52543712], [52545513, 52545654], [52548835, 52548917], [52553058, 52553324], [52556386, 52556493], [52561949, 52562057], [52563959, 52564041], [52564776, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587833]]
ENST00000560809 [[52484855, 52486251], [52487573, 52487654], [52488505, 52488680], [52497061, 52497344], [52498012, 52498163], [52500750, 52500840], [52503926, 52504081], [52506799, 52506887], [52510715, 52510884], [52511955, 52512019], [52513358, 52513452], [52515740, 52515921], [52517097, 52517178], [52517271, 52517335], [52517635, 52517729], [52521329, 52521510], [52527866, 52527960], [52529678, 52529843], [52531929, 52532076], [52536552, 52536764], [52537550, 52537662], [52538152, 52538239], [52539113, 52539211], [52539654, 52539789], [52540896, 52540980], [52543586, 52543712], [52545513, 52545654], [52548835, 52548917], [52553098, 52553324], [52556386, 52556493], [52557382, 52557417], [52561949, 52562057], [52564776, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587853]] [[52561997, 52562057], [52564776, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587833]]
ENST00000443683 [[52521426, 52521510], [52524818, 52524882], [52527866, 52527960], [52529678, 52529843], [52536552, 52536764], [52537550, 52537662], [52538152, 52538239], [52539113, 52539211], [52539654, 52539789], [52540896, 52540980], [52543586, 52543712], [52545513, 52545654], [52548835, 52548917], [52553098, 52553324], [52556386, 52556493], [52561949, 52562057], [52563959, 52564041], [52564776, 52564920], [52567758, 52567915], [52570040, 52570224], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587966]] [[52548897, 52548917], [52553098, 52553324], [52556386, 52556493], [52561949, 52562057], [52563959, 52564041], [52564776, 52564920], [52567758, 52567915], [52570040, 52570224], [52571069, 52571163]]
ENST00000558902 [[52521426, 52521510], [52524818, 52524882], [52527866, 52527960], [52529678, 52529843], [52536552, 52536764], [52537550, 52537662], [52538152, 52538239], [52539113, 52539211], [52539654, 52539789], [52540896, 52540980], [52543586, 52543712], [52545513, 52545654], [52548835, 52548917], [52553098, 52553324], [52556386, 52556493], [52561949, 52562057], [52563959, 52564041], [52564776, 52564920], [52567758, 52567915], [52570040, 52570224], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587966]] [[52570211, 52570224], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587833]]
ENST00000559459 [[52543187, 52543712], [52545513, 52545654], [52548835, 52548917], [52553098, 52553324], [52556386, 52556493], [52561949, 52562057], [52563959, 52564041], [52564776, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587941]] [[52548897, 52548917], [52553098, 52553324], [52556386, 52556493], [52561949, 52562057], [52563959, 52564041], [52564776, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587833]]
ENST00000541028 [[52553203, 52553324], [52556386, 52556493], [52564776, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52587806, 52587965]] None
ENST00000559696 [[52497244, 52497344], [52498012, 52498163], [52500750, 52500840], [52503926, 52504081], [52505384, 52505725]] None
ENST00000559434 [[52528985, 52529843], [52531929, 52532076], [52534244, 52535756]] None
ENST00000558242 [[52543618, 52543712], [52545513, 52545654], [52548835, 52549092]] None
ENST00000558479 [[52564885, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52574978, 52575081], [52587806, 52587970]] [[52564885, 52564920], [52567758, 52567915], [52571069, 52571197]]
NM_018728 [[52484514, 52486251], [52487573, 52487654], [52488505, 52488680], [52497061, 52497344], [52498012, 52498163], [52500750, 52500840], [52503926, 52504081], [52505384, 52505483], [52506799, 52506887], [52510715, 52510884], [52511955, 52512019], [52513358, 52513452], [52515740, 52515921], [52517097, 52517178], [52517271, 52517335], [52517635, 52517729], [52521329, 52521510], [52524818, 52524882], [52527866, 52527960], [52529678, 52529843], [52531929, 52532076], [52534244, 52534410], [52536552, 52536764], [52537550, 52537662], [52538152, 52538239], [52539113, 52539211], [52539654, 52539789], [52540896, 52540980], [52543586, 52543712], [52545513, 52545654], [52548835, 52548917], [52553058, 52553324], [52556386, 52556493], [52561949, 52562057], [52563959, 52564041], [52564776, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587995]] [[52486098, 52486251], [52487573, 52487654], [52488505, 52488680], [52497061, 52497344], [52498012, 52498163], [52500750, 52500840], [52503926, 52504081], [52505384, 52505483], [52506799, 52506887], [52510715, 52510884], [52511955, 52512019], [52513358, 52513452], [52515740, 52515921], [52517097, 52517178], [52517271, 52517335], [52517635, 52517729], [52521329, 52521510], [52524818, 52524882], [52527866, 52527960], [52529678, 52529843], [52531929, 52532076], [52534244, 52534410], [52536552, 52536764], [52537550, 52537662], [52538152, 52538239], [52539113, 52539211], [52539654, 52539789], [52540896, 52540980], [52543586, 52543712], [52545513, 52545654], [52548835, 52548917], [52553058, 52553324], [52556386, 52556493], [52561949, 52562057], [52563959, 52564041], [52564776, 52564920], [52567758, 52567915], [52571069, 52571214], [52571705, 52571871], [52574978, 52575089], [52587806, 52587833]]
Promoter
Chrom Start End Description
chr15 52549283 52549293 CAGE_peak_5_at_MYO5C_5end
chr15 52587945 52588011 CAGE_peak_1_at_MYO5C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I052252 52252150 52253962 1.25 [{'connected_gene': 'MAPK6', 'score': 8.93}, {'connected_gene': 'TMOD3', 'score': 6.66}, {'connected_gene': 'GC15M057316', 'score': 0.34}, {'connected_gene': 'GC15M056837', 'score': 0.34}, {'connected_gene': 'LOC105370820', 'score': 0.31}, {'connected_gene': 'MYO5C', 'score': 0.26}]
chr15 GH15I052286 52286983 52290273 1.49 [{'connected_gene': 'MYO5C', 'score': 27.33}, {'connected_gene': 'ENSG00000259712', 'score': 11.87}, {'connected_gene': 'GNB5', 'score': 10.21}, {'connected_gene': 'ARPP19', 'score': 1.92}, {'connected_gene': 'LOC105370819', 'score': 0.77}, {'connected_gene': 'MIR1266', 'score': 0.39}]
chr15 GH15I052231 52231236 52236468 1.38 [{'connected_gene': 'MYO5C', 'score': 22.07}, {'connected_gene': 'GNB5', 'score': 16.33}, {'connected_gene': 'MIR1266', 'score': 11.7}, {'connected_gene': 'TMOD3', 'score': 6.36}, {'connected_gene': 'FAM214A', 'score': 2.15}, {'connected_gene': 'LOC105370820', 'score': 0.44}, {'connected_gene': 'GC15M057316', 'score': 0.26}, {'connected_gene': 'GC15M056837', 'score': 0.26}]
chr15 GH15I052293 52293843 52296413 1.89 [{'connected_gene': 'MYO5C', 'score': 571.23}, {'connected_gene': 'LOC105370819', 'score': 0.77}]
chr15 GH15I052280 52280310 52282211 0.82 [{'connected_gene': 'MYO5C', 'score': 21.79}, {'connected_gene': 'MIR1266', 'score': 0.77}, {'connected_gene': 'LOC105370819', 'score': 0.39}]
chr15 GH15I051634 51634609 51634948 0.9 [{'connected_gene': 'TRPM7', 'score': 14.98}, {'connected_gene': 'ENSG00000260618', 'score': 12.57}, {'connected_gene': 'DCAF13P3', 'score': 11.67}, {'connected_gene': 'SCG3', 'score': 11.55}, {'connected_gene': 'ENSG00000259712', 'score': 11.17}, {'connected_gene': 'AP4E1', 'score': 10.65}, {'connected_gene': 'MYO5C', 'score': 10.0}, {'connected_gene': 'DMXL2', 'score': 8.79}, {'connected_gene': 'MAPK6', 'score': 3.35}, {'connected_gene': 'LOC105370816', 'score': 0.34}]
chr15 GH15I052257 52257001 52258087 0.87 [{'connected_gene': 'TMOD3', 'score': 6.66}, {'connected_gene': 'GC15M057316', 'score': 0.37}, {'connected_gene': 'GC15M056837', 'score': 0.37}, {'connected_gene': 'LOC105370820', 'score': 0.29}, {'connected_gene': 'MYO5C', 'score': 0.28}]
chr15 GH15I051841 51841201 51848074 1.59 [{'connected_gene': 'LYSMD2', 'score': 38.07}, {'connected_gene': 'TMOD2', 'score': 16.82}, {'connected_gene': 'TMOD3', 'score': 12.98}, {'connected_gene': 'DMXL2', 'score': 9.96}, {'connected_gene': 'MAPK6', 'score': 9.27}, {'connected_gene': 'ENSG00000259178', 'score': 6.45}, {'connected_gene': 'MYO5C', 'score': 5.75}, {'connected_gene': 'ENSG00000277677', 'score': 0.39}, {'connected_gene': 'ENSG00000274954', 'score': 0.39}]
chr15 GH15I052208 52208424 52208613 0.7 [{'connected_gene': 'GNB5', 'score': 4.82}, {'connected_gene': 'PIR39866', 'score': 0.77}, {'connected_gene': 'PIR57877', 'score': 0.44}, {'connected_gene': 'MYO5C', 'score': 0.17}]
chr15 GH15I052260 52260945 52263975 1.02 [{'connected_gene': 'GNB5', 'score': 10.71}, {'connected_gene': 'TMOD3', 'score': 6.04}, {'connected_gene': 'GC15M057316', 'score': 0.39}, {'connected_gene': 'GC15M056837', 'score': 0.39}, {'connected_gene': 'MYO5C', 'score': 0.29}, {'connected_gene': 'LOC105370820', 'score': 0.28}]
chr15 GH15I052227 52227352 52227833 1.14 [{'connected_gene': 'GNB5', 'score': 11.64}, {'connected_gene': 'TMOD3', 'score': 6.36}, {'connected_gene': 'LOC105370820', 'score': 0.77}, {'connected_gene': 'GC15M057316', 'score': 0.25}, {'connected_gene': 'GC15M056837', 'score': 0.25}, {'connected_gene': 'MYO5C', 'score': 0.2}]
chr15 GH15I052220 52220333 52222620 0.97 [{'connected_gene': 'GNB5', 'score': 17.75}, {'connected_gene': 'LOC105370820', 'score': 0.77}, {'connected_gene': 'PIR57877', 'score': 0.44}, {'connected_gene': 'MYO5C', 'score': 0.19}]
chr15 GH15I052224 52224627 52225783 0.38 [{'connected_gene': 'LOC105370820', 'score': 550.77}, {'connected_gene': 'MYO5C', 'score': 14.02}, {'connected_gene': 'GNB5', 'score': 11.67}, {'connected_gene': 'MIR1266', 'score': 10.41}, {'connected_gene': 'PIR57877', 'score': 0.39}]
chr15 GH15I052228 52228703 52230285 0.96 [{'connected_gene': 'LOC105370820', 'score': 0.77}, {'connected_gene': 'GC15M057316', 'score': 0.25}, {'connected_gene': 'GC15M056837', 'score': 0.25}, {'connected_gene': 'MYO5C', 'score': 0.2}]
chr15 GH15I052225 52225903 52226842 0.2 [{'connected_gene': 'LOC105370820', 'score': 550.77}, {'connected_gene': 'GNB5', 'score': 11.66}, {'connected_gene': 'MIR1266', 'score': 10.41}, {'connected_gene': 'GC15M057316', 'score': 0.25}, {'connected_gene': 'GC15M056837', 'score': 0.25}, {'connected_gene': 'MYO5C', 'score': 0.2}]
chr15 GH15I052292 52292546 52293405 0.59 [{'connected_gene': 'LOC105370819', 'score': 550.77}, {'connected_gene': 'MYO5C', 'score': 8.29}]
chr15 GH15I052254 52254362 52255609 0.76 [{'connected_gene': 'MIR1266', 'score': 10.83}, {'connected_gene': 'TMOD3', 'score': 6.66}, {'connected_gene': 'GC15M057316', 'score': 0.34}, {'connected_gene': 'GC15M056837', 'score': 0.34}, {'connected_gene': 'LOC105370820', 'score': 0.31}, {'connected_gene': 'MYO5C', 'score': 0.26}]
chr15 GH15I052250 52250565 52250831 0.54 [{'connected_gene': 'MIR1266', 'score': 10.84}, {'connected_gene': 'GNB5', 'score': 10.58}, {'connected_gene': 'GC15M057316', 'score': 0.34}, {'connected_gene': 'GC15M056837', 'score': 0.34}, {'connected_gene': 'LOC105370820', 'score': 0.31}, {'connected_gene': 'MYO5C', 'score': 0.25}]
chr15 GH15I052246 52246748 52247768 0.72 [{'connected_gene': 'MIR1266', 'score': 10.79}, {'connected_gene': 'GNB5', 'score': 10.5}, {'connected_gene': 'LOC105370820', 'score': 0.34}, {'connected_gene': 'GC15M057316', 'score': 0.31}, {'connected_gene': 'GC15M056837', 'score': 0.31}, {'connected_gene': 'MYO5C', 'score': 0.25}]
chr15 GH15I052256 52256002 52256840 1 [{'connected_gene': 'MIR1266', 'score': 10.83}, {'connected_gene': 'GC15M057316', 'score': 0.37}, {'connected_gene': 'GC15M056837', 'score': 0.37}, {'connected_gene': 'LOC105370820', 'score': 0.29}, {'connected_gene': 'MYO5C', 'score': 0.28}]
chr15 GH15I052092 52092558 52096798 1.48 [{'connected_gene': 'GC15P052096', 'score': 550.77}, {'connected_gene': 'RPS13P8', 'score': 550.77}, {'connected_gene': 'MAPK6', 'score': 16.46}, {'connected_gene': 'LEO1', 'score': 10.57}, {'connected_gene': 'GNB5', 'score': 10.44}, {'connected_gene': 'ENSG00000259178', 'score': 10.32}, {'connected_gene': 'LYSMD2', 'score': 7.4}, {'connected_gene': 'ENSG00000259709', 'score': 7.16}, {'connected_gene': 'MYO5C', 'score': 5.28}, {'connected_gene': 'DMXL2', 'score': 4.73}, {'connected_gene': 'ENSG00000259241', 'score': 3.97}, {'connected_gene': 'ENSG00000259712', 'score': 0.44}, {'connected_gene': 'GC15P052002', 'score': 0.16}]
chr15 GH15I052010 52010544 52012404 1.23 [{'connected_gene': 'ENSG00000259935', 'score': 13.43}, {'connected_gene': 'ENSG00000260618', 'score': 12.58}, {'connected_gene': 'FAM214A', 'score': 11.76}, {'connected_gene': 'ENSG00000259712', 'score': 11.3}, {'connected_gene': 'LEO1', 'score': 10.96}, {'connected_gene': 'GNB5', 'score': 10.17}, {'connected_gene': 'MYO5C', 'score': 10.03}, {'connected_gene': 'ENSG00000259438', 'score': 0.44}, {'connected_gene': 'GC15P052002', 'score': 0.44}, {'connected_gene': 'ENSG00000274528', 'score': 0.44}, {'connected_gene': 'MAPK6', 'score': 0.22}]
chr15 GH15I052251 52251212 52251413 0.6 [{'connected_gene': 'GC15M057316', 'score': 0.34}, {'connected_gene': 'GC15M056837', 'score': 0.34}, {'connected_gene': 'LOC105370820', 'score': 0.31}, {'connected_gene': 'MYO5C', 'score': 0.26}]

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