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
ENST00000378714 [[13203553, 13203606], [13206127, 13206209], [13212921, 13213263], [13214375, 13214480], [13214627, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13251133], [13251226, 13253104]] [[13206202, 13206209], [13212921, 13213263], [13214375, 13214480], [13214627, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13251133], [13251226, 13251310]]
ENST00000484800 [[13203578, 13203606], [13206127, 13206209], [13212921, 13213263], [13214375, 13214480], [13214624, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13251133], [13251226, 13251736]] [[13206202, 13206209], [13212921, 13213263], [13214375, 13214480], [13214624, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13251133], [13251226, 13251310]]
ENST00000378694 [[13206127, 13206209], [13212921, 13213263], [13214375, 13214480], [13214627, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13253104]] [[13206202, 13206209], [13212921, 13213263], [13214375, 13214480], [13214627, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13251160]]
ENST00000481292 [[13237085, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243872]] None
ENST00000479669 [[13203578, 13203606], [13212921, 13213263], [13214375, 13214474]] [[13213154, 13213263], [13214375, 13214474]]
ENST00000459751 [[13234490, 13234568], [13237040, 13237580]] None
ENST00000485659 [[13240762, 13240807], [13243420, 13243534], [13246218, 13246526]] None
NM_018518 [[13203553, 13203606], [13206127, 13206209], [13212921, 13213263], [13214375, 13214480], [13214627, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13251133], [13251226, 13253104]] [[13206202, 13206209], [13212921, 13213263], [13214375, 13214480], [13214627, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13251133], [13251226, 13251310]]
NM_182751 [[13203553, 13203606], [13206127, 13206209], [13212921, 13213263], [13214375, 13214480], [13214624, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13251133], [13251226, 13253104]] [[13206202, 13206209], [13212921, 13213263], [13214375, 13214480], [13214624, 13214765], [13217509, 13217681], [13222441, 13222607], [13224932, 13225100], [13228163, 13228280], [13230880, 13231080], [13233298, 13233399], [13234254, 13234365], [13234450, 13234568], [13237040, 13237269], [13239622, 13239767], [13240688, 13240807], [13243420, 13243534], [13246218, 13246364], [13251090, 13251133], [13251226, 13251310]]
Promoter
Chrom Start End Description
chr10 13203543 13203587 CAGE_peak_1_at_MCM10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I013146 13146217 13147337 0.57 [{'connected_gene': 'CCDC3', 'score': 11.08}, {'connected_gene': 'OPTN', 'score': 11.08}, {'connected_gene': 'MCM10', 'score': 5.38}, {'connected_gene': 'ENSG00000228330', 'score': 0.77}, {'connected_gene': 'BTBD7P1', 'score': 0.39}]
chr10 GH10I013160 13160603 13162668 2.04 [{'connected_gene': 'RPL36AP36', 'score': 550.77}, {'connected_gene': 'MCM10', 'score': 550.77}, {'connected_gene': 'GC10M013159', 'score': 550.77}, {'connected_gene': 'BTBD7P1', 'score': 13.97}, {'connected_gene': 'ENSG00000228302', 'score': 11.9}, {'connected_gene': 'CCDC3', 'score': 9.91}, {'connected_gene': 'OPTN', 'score': 9.91}, {'connected_gene': 'PRPF18', 'score': 9.74}, {'connected_gene': 'GC10P013202', 'score': 0.26}]
chr10 GH10I013193 13193342 13193711 0.39 [{'connected_gene': 'MCM10', 'score': 11.54}, {'connected_gene': 'RPL36AP36', 'score': 11.54}, {'connected_gene': 'BTBD7P1', 'score': 11.52}, {'connected_gene': 'SEPHS1', 'score': 10.86}, {'connected_gene': 'GC10P013202', 'score': 0.44}]
chr10 GH10I013113 13113000 13113090 0.2 [{'connected_gene': 'MCM10', 'score': 10.85}, {'connected_gene': 'BTBD7P1', 'score': 10.85}, {'connected_gene': 'RPL36AP36', 'score': 10.85}, {'connected_gene': 'SNRPGP5', 'score': 0.44}, {'connected_gene': 'OPTN', 'score': 0.39}, {'connected_gene': 'ENSG00000234175', 'score': 0.31}]
chr10 GH10I013173 13173701 13173850 0.74 [{'connected_gene': 'MCM10', 'score': 0.39}, {'connected_gene': 'GC10P013202', 'score': 0.31}]
chr10 GH10I013938 13938891 13939690 0.31 [{'connected_gene': 'LOC105376425', 'score': 11.52}, {'connected_gene': 'MCM10', 'score': 5.23}, {'connected_gene': 'GC10M013770', 'score': 0.34}, {'connected_gene': 'FRMD4A', 'score': 0.03}]
chr10 GH10I013944 13944748 13947088 0.82 [{'connected_gene': 'LOC105376425', 'score': 11.02}, {'connected_gene': 'LOC101928453', 'score': 9.58}, {'connected_gene': 'MCM10', 'score': 5.7}, {'connected_gene': 'GC10M013770', 'score': 0.31}, {'connected_gene': 'FRMD4A', 'score': 0.03}]
chr10 GH10I013120 13120812 13121970 0.43 [{'connected_gene': 'OPTN', 'score': 17.56}, {'connected_gene': 'CCDC3', 'score': 11.96}, {'connected_gene': 'BTBD7P1', 'score': 11.92}, {'connected_gene': 'RPL36AP36', 'score': 11.92}, {'connected_gene': 'MCM10', 'score': 11.9}, {'connected_gene': 'ENSG00000228330', 'score': 4.94}, {'connected_gene': 'SNRPGP5', 'score': 0.37}, {'connected_gene': 'ENSG00000234175', 'score': 0.37}]

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