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
ENST00000424347 [[80850977, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881619], [80885756, 80894606]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881619], [80885756, 80885767]]
ENST00000476652 [[80851056, 80851519], [80881532, 80881703]] None
ENST00000415759 [[80851077, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866820, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881991]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866820, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881678]]
ENST00000376597 [[80851122, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866820, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80880774, 80880822], [80881357, 80881983]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866820, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80880774, 80880822], [80881357, 80881678]]
ENST00000277082 [[80851147, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881983]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881678]]
ENST00000376598 [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80880774, 80880822], [80881357, 80881619], [80885756, 80886053]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80880774, 80880822], [80881357, 80881619], [80885756, 80885767]]
ENST00000487108 [[80868222, 80868858], [80869758, 80869880], [80877822, 80877900], [80879065, 80879144]] None
ENST00000498582 [[80869389, 80869880], [80877822, 80877900], [80879065, 80879157]] None
ENST00000459817 [[80869618, 80869880], [80879065, 80879232], [80880287, 80880317]] None
ENST00000536374 [[80850996, 80851575], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80865369]] None
ENST00000447629 [[80878965, 80879232], [80880287, 80880459], [80881357, 80881619], [80885756, 80886799]] None
NM_001330694 [[80850977, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881991]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881678]]
NM_001330693 [[80850977, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881619], [80885756, 80886799]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881619], [80885756, 80885767]]
NM_001330691 [[80850977, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80880774, 80880822], [80881357, 80881619], [80885756, 80886799]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866823, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80880774, 80880822], [80881357, 80881619], [80885756, 80885767]]
NM_032171 [[80850990, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866820, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881983]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866820, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80881357, 80881678]]
NM_001098802 [[80850990, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866820, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80880774, 80880822], [80881357, 80881983]] [[80851266, 80851519], [80854938, 80855111], [80855207, 80855280], [80856611, 80856715], [80858377, 80858552], [80861584, 80861698], [80863206, 80863271], [80863677, 80863789], [80866820, 80866959], [80868147, 80868193], [80869751, 80869880], [80877822, 80877900], [80879065, 80879232], [80880287, 80880459], [80880774, 80880822], [80881357, 80881678]]
Promoter
Chrom Start End Description
chr9 80850952 80851042 CAGE_peak_1_at_CEP78_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I078200 78200813 78201873 0.8 [{'connected_gene': 'CEP78', 'score': 17.45}, {'connected_gene': 'PSAT1', 'score': 6.12}, {'connected_gene': 'ENSG00000234819', 'score': 0.37}, {'connected_gene': 'RPL21P84', 'score': 0.34}]
chr9 GH09I078187 78187858 78188387 0.44 [{'connected_gene': 'CEP78', 'score': 10.61}, {'connected_gene': 'PSAT1', 'score': 6.45}, {'connected_gene': 'RPL21P84', 'score': 0.44}, {'connected_gene': 'ENSG00000234819', 'score': 0.29}]
chr9 GH09I078210 78210519 78212185 0.91 [{'connected_gene': 'CEP78', 'score': 16.92}, {'connected_gene': 'PSAT1', 'score': 6.25}, {'connected_gene': 'ENSG00000234819', 'score': 0.44}, {'connected_gene': 'RPL21P84', 'score': 0.29}]
chr9 GH09I078239 78239605 78239754 0.56 [{'connected_gene': 'CEP78', 'score': 7.68}, {'connected_gene': 'PSAT1', 'score': 5.05}]
chr9 GH09I078277 78277839 78279427 0.69 [{'connected_gene': 'CEP78', 'score': 23.53}, {'connected_gene': 'PSAT1', 'score': 0.37}]
chr9 GH09I078293 78293201 78293400 0.56 [{'connected_gene': 'CEP78', 'score': 11.01}, {'connected_gene': 'PSAT1', 'score': 0.77}]
chr9 GH09I078280 78280434 78282423 0.77 [{'connected_gene': 'CEP78', 'score': 11.55}, {'connected_gene': 'PSAT1', 'score': 0.37}]
chr9 GH09I078237 78237645 78239378 0.49 [{'connected_gene': 'CEP78', 'score': 13.62}, {'connected_gene': 'GNAQ', 'score': 4.8}, {'connected_gene': 'PSAT1', 'score': 0.22}]
chr9 GH09I078054 78054325 78054474 0.31 [{'connected_gene': 'CEP78', 'score': 10.36}, {'connected_gene': 'GNAQ', 'score': 0.34}, {'connected_gene': 'SYNGR2P2', 'score': 0.15}]
chr9 GH09I078132 78132401 78133200 0.58 [{'connected_gene': 'CEP78', 'score': 10.66}, {'connected_gene': 'GNAQ', 'score': 10.15}, {'connected_gene': 'SYNGR2P2', 'score': 0.37}, {'connected_gene': 'GC09M078128', 'score': 0.37}]
chr9 GH09I078148 78148148 78148271 0.22 [{'connected_gene': 'CEP78', 'score': 9.88}, {'connected_gene': 'SYNGR2P2', 'score': 0.77}, {'connected_gene': 'GC09M078128', 'score': 0.77}, {'connected_gene': 'GNAQ', 'score': 0.13}]
chr9 GH09I078214 78213601 78213800 0.43 [{'connected_gene': 'CEP78', 'score': 11.85}, {'connected_gene': 'ENSG00000234819', 'score': 0.44}, {'connected_gene': 'RPL21P84', 'score': 0.29}]
chr9 GH09I078196 78196201 78196800 0.43 [{'connected_gene': 'CEP78', 'score': 15.39}, {'connected_gene': 'RPL21P84', 'score': 0.37}, {'connected_gene': 'ENSG00000234819', 'score': 0.34}]
chr9 GH09I078189 78189805 78189896 0.2 [{'connected_gene': 'CEP78', 'score': 10.78}, {'connected_gene': 'RPL21P84', 'score': 0.44}, {'connected_gene': 'ENSG00000234819', 'score': 0.31}]
chr9 GH09I078213 78213845 78213954 0.43 [{'connected_gene': 'CEP78', 'score': 11.85}, {'connected_gene': 'ENSG00000234819', 'score': 0.44}, {'connected_gene': 'RPL21P84', 'score': 0.29}]
chr9 GH09I078190 78189585 78189734 0.2 [{'connected_gene': 'CEP78', 'score': 10.78}, {'connected_gene': 'RPL21P84', 'score': 0.44}, {'connected_gene': 'ENSG00000234819', 'score': 0.31}]
chr9 GH09I078234 78234425 78237201 2 [{'connected_gene': 'CEP78', 'score': 563.62}, {'connected_gene': 'GC09M078233', 'score': 550.77}, {'connected_gene': 'GC09M078236', 'score': 550.77}, {'connected_gene': 'PIR53002', 'score': 550.77}]
chr9 GH09I078516 78516208 78516236 0.22 [{'connected_gene': 'CEP78', 'score': 2.36}, {'connected_gene': 'PIR55741', 'score': 0.28}, {'connected_gene': 'GC09P078450', 'score': 0.2}]
chr9 GH09I078294 78294755 78298802 2.28 [{'connected_gene': 'PSAT1', 'score': 558.86}, {'connected_gene': 'CEP78', 'score': 15.26}]
chr9 GH09I078121 78121645 78121754 0.54 [{'connected_gene': 'GNAQ', 'score': 11.78}, {'connected_gene': 'CEP78', 'score': 11.39}, {'connected_gene': 'SYNGR2P2', 'score': 0.31}]
chr9 GH09I078104 78103201 78103400 0.2 [{'connected_gene': 'GNAQ', 'score': 11.71}, {'connected_gene': 'CEP78', 'score': 10.24}, {'connected_gene': 'SYNGR2P2', 'score': 0.25}]
chr9 GH09I078103 78103505 78104600 0.66 [{'connected_gene': 'GNAQ', 'score': 11.71}, {'connected_gene': 'CEP78', 'score': 10.24}, {'connected_gene': 'SYNGR2P2', 'score': 0.25}]
chr9 GH09I078118 78118605 78119858 0.94 [{'connected_gene': 'GNAQ', 'score': 11.79}, {'connected_gene': 'CEP78', 'score': 11.39}, {'connected_gene': 'SYNGR2P2', 'score': 0.29}]
chr9 GH09I077943 77943002 77948000 1.36 [{'connected_gene': 'GNAQ', 'score': 17.31}, {'connected_gene': 'CEP78', 'score': 9.51}, {'connected_gene': 'GC09P077971', 'score': 0.31}, {'connected_gene': 'PIR41797', 'score': 0.16}]
chr9 GH09I077977 77975577 77976094 0.38 [{'connected_gene': 'GNAQ', 'score': 16.7}, {'connected_gene': 'CEP78', 'score': 10.54}, {'connected_gene': 'GC09P077971', 'score': 0.77}, {'connected_gene': 'GC09P078010', 'score': 0.29}, {'connected_gene': 'PIR47662', 'score': 0.29}, {'connected_gene': 'GC09P078011', 'score': 0.29}, {'connected_gene': 'GC09P078008', 'score': 0.29}]
chr9 GH09I077956 77956386 77958200 0.97 [{'connected_gene': 'GNAQ', 'score': 12.36}, {'connected_gene': 'CEP78', 'score': 9.84}, {'connected_gene': 'GC09P077971', 'score': 0.39}, {'connected_gene': 'PIR41797', 'score': 0.15}]
chr9 GH09I077951 77951602 77955199 0.96 [{'connected_gene': 'GNAQ', 'score': 16.89}, {'connected_gene': 'CEP78', 'score': 9.84}, {'connected_gene': 'GC09P077971', 'score': 0.37}, {'connected_gene': 'PIR41797', 'score': 0.15}]
chr9 GH09I077958 77958601 77958800 0.4 [{'connected_gene': 'GNAQ', 'score': 12.36}, {'connected_gene': 'CEP78', 'score': 9.84}, {'connected_gene': 'GC09P077971', 'score': 0.39}, {'connected_gene': 'PIR41797', 'score': 0.14}]
chr9 GH09I077925 77925001 77925200 0.4 [{'connected_gene': 'GNAQ', 'score': 11.69}, {'connected_gene': 'CEP78', 'score': 9.25}, {'connected_gene': 'GC09P077971', 'score': 0.25}, {'connected_gene': 'PIR41797', 'score': 0.19}]
chr9 GH09I077831 77831482 77832593 0.2 [{'connected_gene': 'GNAQ', 'score': 10.7}, {'connected_gene': 'CEP78', 'score': 10.5}, {'connected_gene': 'PIR41797', 'score': 0.34}, {'connected_gene': 'PIR51881', 'score': 0.2}]
chr9 GH09I077826 77826765 77826914 0.43 [{'connected_gene': 'GNAQ', 'score': 10.7}, {'connected_gene': 'CEP78', 'score': 10.5}, {'connected_gene': 'PIR41797', 'score': 0.31}, {'connected_gene': 'PIR51881', 'score': 0.21}]
chr9 GH09I077809 77809903 77811339 0.52 [{'connected_gene': 'GNAQ', 'score': 10.33}, {'connected_gene': 'CEP78', 'score': 10.2}, {'connected_gene': 'PIR41797', 'score': 0.26}, {'connected_gene': 'PIR51881', 'score': 0.25}]
chr9 GH09I077827 77827001 77827840 1.06 [{'connected_gene': 'GNAQ', 'score': 10.7}, {'connected_gene': 'CEP78', 'score': 10.5}, {'connected_gene': 'PIR41797', 'score': 0.31}, {'connected_gene': 'PIR51881', 'score': 0.21}]
chr9 GH09I077975 77975305 77975354 0.66 [{'connected_gene': 'GNAQ', 'score': 12.21}, {'connected_gene': 'CEP78', 'score': 10.54}, {'connected_gene': 'GC09P077971', 'score': 0.77}, {'connected_gene': 'GC09P078010', 'score': 0.29}, {'connected_gene': 'PIR47662', 'score': 0.29}, {'connected_gene': 'GC09P078011', 'score': 0.29}, {'connected_gene': 'GC09P078008', 'score': 0.29}]
chr9 GH09I077857 77857666 77858882 0.31 [{'connected_gene': 'GNAQ', 'score': 17.5}, {'connected_gene': 'CEP78', 'score': 9.9}, {'connected_gene': 'PIR41797', 'score': 0.44}, {'connected_gene': 'GC09P077971', 'score': 0.14}]
chr9 GH09I077926 77925603 77928429 1.12 [{'connected_gene': 'GNAQ', 'score': 11.69}, {'connected_gene': 'CEP78', 'score': 9.25}, {'connected_gene': 'GC09P077971', 'score': 0.26}, {'connected_gene': 'PIR41797', 'score': 0.19}]
chr9 GH09I077828 77828579 77830363 0.4 [{'connected_gene': 'GNAQ', 'score': 10.7}, {'connected_gene': 'CEP78', 'score': 10.5}, {'connected_gene': 'PIR41797', 'score': 0.34}, {'connected_gene': 'PIR51881', 'score': 0.2}]

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