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
ENST00000554752 [[71189242, 71197581], [71199255, 71200059], [71201102, 71201215], [71202677, 71202746], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71275888]] [[71197096, 71197581], [71199255, 71200059], [71201102, 71201215], [71202677, 71202746], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71275888]]
ENST00000555993 [[71196367, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71202677, 71202746], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71276251]] [[71197096, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71202677, 71202746], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71275888]]
ENST00000553414 [[71196382, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71204961, 71205115], [71206614, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71249939, 71250157]] [[71197096, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71204961, 71205115], [71206614, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227801]]
ENST00000381250 [[71196652, 71197581], [71199255, 71200059], [71201102, 71201215], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71276223]] [[71197096, 71197581], [71199255, 71200059], [71201102, 71201215], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71275888]]
ENST00000554146 [[71196851, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71232158, 71232204], [71249939, 71250162]] [[71197096, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71232158, 71232189]]
ENST00000554024 [[71216269, 71216798], [71219654, 71219673]] None
NM_001284231 [[71189242, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71204961, 71205115], [71206614, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71232158, 71232204], [71249939, 71250169]] [[71197096, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71204961, 71205115], [71206614, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71232158, 71232189]]
NM_001284232 [[71189242, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71204961, 71205115], [71206614, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71249939, 71250169]] [[71197096, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71204961, 71205115], [71206614, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227801]]
NM_033141 [[71189242, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71202677, 71202746], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71275888]] [[71197096, 71197581], [71199255, 71200059], [71200473, 71200515], [71201102, 71201215], [71202677, 71202746], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71275888]]
NM_001284230 [[71189242, 71197581], [71199255, 71200059], [71201102, 71201215], [71202677, 71202746], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71275888]] [[71197096, 71197581], [71199255, 71200059], [71201102, 71201215], [71202677, 71202746], [71204961, 71205115], [71206758, 71206881], [71209067, 71209308], [71215545, 71215721], [71216649, 71216798], [71227718, 71227899], [71267383, 71267797], [71275482, 71275888]]
Promoter
Chrom Start End Description
chr14 71276211 71276255 CAGE_peak_1_at_MAP3K9_5end
chr14 71276268 71276283 CAGE_peak_2_at_MAP3K9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I070807 70807744 70812554 1.98 [{'connected_gene': 'MAP3K9', 'score': 560.2}, {'connected_gene': 'LOC100506411', 'score': 550.77}, {'connected_gene': 'ADAM20', 'score': 12.43}, {'connected_gene': 'ENSG00000275630', 'score': 0.39}]
chr14 GH14I070780 70780601 70781127 0.66 [{'connected_gene': 'MAP3K9', 'score': 12.54}, {'connected_gene': 'LOC100506411', 'score': 0.31}, {'connected_gene': 'PIR58438', 'score': 0.25}, {'connected_gene': 'GC14M070761', 'score': 0.25}]
chr14 GH14I070783 70783380 70783439 0.7 [{'connected_gene': 'MAP3K9', 'score': 562.54}, {'connected_gene': 'LOC100506411', 'score': 0.31}, {'connected_gene': 'PIR58438', 'score': 0.23}, {'connected_gene': 'GC14M070761', 'score': 0.23}]
chr14 GH14I070786 70786577 70786863 0.65 [{'connected_gene': 'MAP3K9', 'score': 10.64}, {'connected_gene': 'LOC100506411', 'score': 0.34}, {'connected_gene': 'PIR58438', 'score': 0.23}, {'connected_gene': 'GC14M070761', 'score': 0.23}]
chr14 GH14I070785 70785684 70785833 0.51 [{'connected_gene': 'MAP3K9', 'score': 12.33}, {'connected_gene': 'LOC100506411', 'score': 0.34}, {'connected_gene': 'PIR58438', 'score': 0.23}, {'connected_gene': 'GC14M070761', 'score': 0.23}]
chr14 GH14I070781 70781140 70783362 0.93 [{'connected_gene': 'MAP3K9', 'score': 26.43}, {'connected_gene': 'LOC100506411', 'score': 0.31}, {'connected_gene': 'PIR58438', 'score': 0.25}, {'connected_gene': 'GC14M070761', 'score': 0.25}]
chr14 GH14I070784 70784544 70785600 0.51 [{'connected_gene': 'MAP3K9', 'score': 21.91}, {'connected_gene': 'LOC100506411', 'score': 0.34}, {'connected_gene': 'PIR58438', 'score': 0.23}, {'connected_gene': 'GC14M070761', 'score': 0.23}]
chr14 GH14I070771 70771244 70771993 0.63 [{'connected_gene': 'MAP3K9', 'score': 8.64}, {'connected_gene': 'LOC100506411', 'score': 0.28}, {'connected_gene': 'PIR58438', 'score': 0.28}, {'connected_gene': 'GC14M070761', 'score': 0.28}]
chr14 GH14I070788 70788823 70790085 0.83 [{'connected_gene': 'MAP3K9', 'score': 12.78}, {'connected_gene': 'LOC100506411', 'score': 0.37}, {'connected_gene': 'PIR58438', 'score': 0.22}, {'connected_gene': 'GC14M070761', 'score': 0.22}]
chr14 GH14I070769 70769898 70771239 0.63 [{'connected_gene': 'MAP3K9', 'score': 9.97}, {'connected_gene': 'LOC100506411', 'score': 0.28}, {'connected_gene': 'PIR58438', 'score': 0.28}, {'connected_gene': 'GC14M070761', 'score': 0.28}]
chr14 GH14I070766 70765757 70765816 0.5 [{'connected_gene': 'MAP3K9', 'score': 550.26}, {'connected_gene': 'PIR58438', 'score': 0.29}, {'connected_gene': 'GC14M070761', 'score': 0.29}, {'connected_gene': 'LOC100506411', 'score': 0.26}]
chr14 GH14I070752 70752825 70754096 0.83 [{'connected_gene': 'MAP3K9', 'score': 8.96}, {'connected_gene': 'PIR58438', 'score': 0.34}, {'connected_gene': 'GC14M070761', 'score': 0.34}, {'connected_gene': 'LOC100506411', 'score': 0.22}]
chr14 GH14I070765 70765382 70765441 0.5 [{'connected_gene': 'MAP3K9', 'score': 550.26}, {'connected_gene': 'PIR58438', 'score': 0.29}, {'connected_gene': 'GC14M070761', 'score': 0.29}, {'connected_gene': 'LOC100506411', 'score': 0.26}]
chr14 GH14I070837 70837419 70839321 0.43 [{'connected_gene': 'MAP3K9', 'score': 8.16}, {'connected_gene': 'ENSG00000275630', 'score': 0.37}, {'connected_gene': 'LOC100287335', 'score': 0.34}]
chr14 GH14I070817 70817401 70818199 1.12 [{'connected_gene': 'MAP3K9', 'score': 9.95}, {'connected_gene': 'ENSG00000275630', 'score': 0.77}]
chr14 GH14I070700 70700801 70701400 0.51 [{'connected_gene': 'TTC9', 'score': 4.85}, {'connected_gene': 'MAP3K9', 'score': 4.28}, {'connected_gene': 'LINC01269', 'score': 0.77}, {'connected_gene': 'GC14P070715', 'score': 0.39}]
chr14 GH14I070842 70842338 70843458 0.46 [{'connected_gene': 'PCNX1', 'score': 11.37}, {'connected_gene': 'MAP3K9', 'score': 8.13}, {'connected_gene': 'LOC100287335', 'score': 0.37}, {'connected_gene': 'ENSG00000275630', 'score': 0.34}]
chr14 GH14I070831 70831932 70833393 0.2 [{'connected_gene': 'PCNX1', 'score': 11.28}, {'connected_gene': 'MAP3K9', 'score': 7.86}, {'connected_gene': 'ENSG00000275630', 'score': 0.39}, {'connected_gene': 'LOC100287335', 'score': 0.31}]
chr14 GH14I070826 70826867 70829107 0.93 [{'connected_gene': 'PCNX1', 'score': 11.27}, {'connected_gene': 'MAP3K9', 'score': 8.31}, {'connected_gene': 'ENSG00000275630', 'score': 0.44}, {'connected_gene': 'LOC100287335', 'score': 0.29}]
chr14 GH14I070856 70856374 70858006 0.38 [{'connected_gene': 'PCNX1', 'score': 11.26}, {'connected_gene': 'MAP3K9', 'score': 8.1}, {'connected_gene': 'LOC100287335', 'score': 0.77}, {'connected_gene': 'ENSG00000275630', 'score': 0.28}]
chr14 GH14I070803 70803444 70803593 0.71 [{'connected_gene': 'LOC100506411', 'score': 0.44}, {'connected_gene': 'MAP3K9', 'score': 0.44}, {'connected_gene': 'PIR58438', 'score': 0.19}, {'connected_gene': 'GC14M070761', 'score': 0.19}]
chr14 GH14I070812 70812601 70812800 0.38 [{'connected_gene': 'LOC100506411', 'score': 0.77}, {'connected_gene': 'MAP3K9', 'score': 0.77}, {'connected_gene': 'ENSG00000275630', 'score': 0.44}]
chr14 GH14I070722 70722914 70727178 0.31 [{'connected_gene': 'GC14M070723', 'score': 550.77}, {'connected_gene': 'PIR55626', 'score': 550.77}, {'connected_gene': 'PIR61048', 'score': 550.77}, {'connected_gene': 'PIR52388', 'score': 550.77}, {'connected_gene': 'PIR36063', 'score': 550.77}, {'connected_gene': 'GC14M070764', 'score': 550.77}, {'connected_gene': 'GC14M070763', 'score': 550.77}, {'connected_gene': 'GC14M070765', 'score': 550.77}, {'connected_gene': 'MAP3K9', 'score': 11.35}, {'connected_gene': 'MED6', 'score': 10.92}, {'connected_gene': 'GC14P070715', 'score': 0.44}]
chr14 GH14I070732 70732204 70732353 0.4 [{'connected_gene': 'PIR58438', 'score': 550.77}, {'connected_gene': 'GC14M070761', 'score': 550.77}, {'connected_gene': 'PIR38389', 'score': 0.77}, {'connected_gene': 'MAP3K9', 'score': 0.18}]
chr14 GH14I070744 70744625 70745329 0.2 [{'connected_gene': 'PIR58438', 'score': 0.39}, {'connected_gene': 'GC14M070761', 'score': 0.39}, {'connected_gene': 'LOC100506411', 'score': 0.21}, {'connected_gene': 'MAP3K9', 'score': 0.21}]
chr14 GH14I070754 70754624 70756665 0.79 [{'connected_gene': 'PIR58438', 'score': 0.34}, {'connected_gene': 'GC14M070761', 'score': 0.34}, {'connected_gene': 'LOC100506411', 'score': 0.23}, {'connected_gene': 'MAP3K9', 'score': 0.23}]
chr14 GH14I070821 70821600 70823682 1.38 [{'connected_gene': 'ENSG00000275630', 'score': 550.77}, {'connected_gene': 'MED6', 'score': 22.59}, {'connected_gene': 'PTTG4P', 'score': 11.36}, {'connected_gene': 'MAP3K9', 'score': 10.28}, {'connected_gene': 'RPL7AP6', 'score': 9.9}, {'connected_gene': 'LOC100287335', 'score': 0.28}]