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
ENST00000430031 [[91966407, 91966505], [91967210, 91967388], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91990056]] [[91967273, 91967388], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91989992]]
ENST00000234626 [[91966449, 91966505], [91967210, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91991321]] [[91967273, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91989992]]
ENST00000428239 [[91966664, 91966860], [91967210, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91991321]] [[91967273, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91989992]]
ENST00000426137 [[91966694, 91966860], [91967210, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977380]] [[91967273, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977380]]
ENST00000497611 [[91966716, 91967039], [91967210, 91967388], [91973410, 91973494], [91973818, 91973962]] None
ENST00000486509 [[91978683, 91978864], [91980375, 91980554], [91981350, 91981433], [91985686, 91985837]] None
NM_001134419 [[91966403, 91966505], [91967244, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91991321]] [[91967273, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91989992]]
NM_003503 [[91966403, 91966505], [91967210, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91991321]] [[91967273, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91989992]]
NM_001134420 [[91966664, 91966860], [91967210, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91991321]] [[91967273, 91967388], [91973410, 91973494], [91973818, 91973954], [91977153, 91977247], [91977337, 91977480], [91978614, 91978864], [91979504, 91979600], [91980375, 91980554], [91981350, 91981433], [91985686, 91985836], [91989597, 91989992]]
Promoter
Chrom Start End Description
chr1 91966365 91966376 CAGE_peak_3_at_CDC7_5end
chr1 91966384 91966454 CAGE_peak_1_at_CDC7_5end
chr1 91966656 91966719 CAGE_peak_2_at_CDC7_5end
chr1 91967061 91967084 CAGE_peak_4_at_CDC7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I091889 91889532 91892474 1.15 [{'connected_gene': 'CDC7', 'score': 10.9}, {'connected_gene': 'EVI5', 'score': 9.45}, {'connected_gene': 'GC01M091855', 'score': 0.37}, {'connected_gene': 'TGFBR3', 'score': 0.37}]
chr1 GH01I091895 91894467 91894769 0.52 [{'connected_gene': 'CDC7', 'score': 10.9}, {'connected_gene': 'TGFBR3', 'score': 0.39}, {'connected_gene': 'GC01M091855', 'score': 0.37}]
chr1 GH01I091894 91894164 91894313 0.38 [{'connected_gene': 'CDC7', 'score': 10.9}, {'connected_gene': 'TGFBR3', 'score': 0.39}, {'connected_gene': 'GC01M091855', 'score': 0.37}]
chr1 GH01I091545 91545435 91558425 1.54 [{'connected_gene': 'CDC7', 'score': 24.83}, {'connected_gene': 'WDR82P2', 'score': 9.18}, {'connected_gene': 'LOC102723436', 'score': 0.37}]
chr1 GH01I091540 91540683 91542933 0.2 [{'connected_gene': 'CDC7', 'score': 11.37}, {'connected_gene': 'WDR82P2', 'score': 9.37}, {'connected_gene': 'LOC102723436', 'score': 0.31}]
chr1 GH01I091499 91499899 91503248 2.07 [{'connected_gene': 'CDC7', 'score': 588.06}, {'connected_gene': 'HFM1', 'score': 10.52}, {'connected_gene': 'ZNF644', 'score': 10.1}, {'connected_gene': 'GC01P091527', 'score': 0.31}]
chr1 GH01I091500 91499751 91499893 0.6 [{'connected_gene': 'CDC7', 'score': 560.48}, {'connected_gene': 'LOC105378856', 'score': 550.77}]
chr1 GH01I091581 91581792 91584487 1.32 [{'connected_gene': 'CDC7', 'score': 4.88}, {'connected_gene': 'LOC102723436', 'score': 0.39}, {'connected_gene': 'RPL39P13', 'score': 0.37}]
chr1 GH01I091523 91523030 91524607 0.43 [{'connected_gene': 'CDC7', 'score': 22.34}, {'connected_gene': 'GC01P091527', 'score': 0.77}, {'connected_gene': 'LOC102723436', 'score': 0.25}]
chr1 GH01I091856 91856261 91857393 0.43 [{'connected_gene': 'BRDT', 'score': 10.25}, {'connected_gene': 'CDC7', 'score': 9.99}, {'connected_gene': 'EVI5', 'score': 4.87}, {'connected_gene': 'GC01P091842', 'score': 0.39}, {'connected_gene': 'GC01M091855', 'score': 0.37}, {'connected_gene': 'TGFBR3', 'score': 0.25}]
chr1 GH01I091854 91854881 91855561 0.2 [{'connected_gene': 'BRDT', 'score': 10.25}, {'connected_gene': 'CDC7', 'score': 9.99}, {'connected_gene': 'GC01P091842', 'score': 0.39}, {'connected_gene': 'GC01M091855', 'score': 0.37}, {'connected_gene': 'TGFBR3', 'score': 0.23}]
chr1 GH01I091558 91558709 91560886 0.69 [{'connected_gene': 'PHKA1P1', 'score': 5.55}, {'connected_gene': 'CDC7', 'score': 5.46}, {'connected_gene': 'LOC102723436', 'score': 0.39}, {'connected_gene': 'WDR82P2', 'score': 0.34}]
chr1 GH01I091531 91531764 91536263 0.2 [{'connected_gene': 'WDR82P2', 'score': 560.01}, {'connected_gene': 'GC01M091533', 'score': 550.77}, {'connected_gene': 'CDC7', 'score': 30.23}, {'connected_gene': 'HFM1', 'score': 9.84}, {'connected_gene': 'LOC102723436', 'score': 0.28}]
chr1 GH01I091503 91503384 91503533 0.31 [{'connected_gene': 'HFM1', 'score': 10.52}, {'connected_gene': 'CDC7', 'score': 0.77}, {'connected_gene': 'GC01P091527', 'score': 0.34}]
chr1 GH01I091526 91526184 91528624 0.57 [{'connected_gene': 'GC01P091527', 'score': 550.77}, {'connected_gene': 'WDR82P2', 'score': 9.38}, {'connected_gene': 'CDC7', 'score': 8.54}, {'connected_gene': 'LOC102723436', 'score': 0.26}]