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
ENST00000261296 [[95226307, 95227106], [95228567, 95228665], [95229624, 95229683], [95230258, 95230424], [95230983, 95231027], [95232147, 95232207], [95233344, 95233443], [95235347, 95235490], [95243106, 95243197], [95244494, 95244563], [95246094, 95246161], [95248304, 95248511]] [[95227035, 95227106], [95228567, 95228665], [95229624, 95229683], [95230258, 95230424], [95230983, 95231027], [95232147, 95232207], [95233344, 95233443], [95235347, 95235490], [95243106, 95243197], [95244494, 95244563], [95246094, 95246161], [95248304, 95248390]]
ENST00000498294 [[95230983, 95231027], [95232147, 95232207], [95233344, 95233443], [95235347, 95235490], [95243106, 95243197], [95244494, 95244563], [95246094, 95246161], [95248228, 95248496]] None
ENST00000470480 [[95231539, 95232207], [95233344, 95233443]] None
NM_001304430 [[95226307, 95227106], [95228567, 95228665], [95229624, 95229683], [95230258, 95230424], [95230983, 95231027], [95232147, 95232207], [95233344, 95233443], [95235347, 95235490], [95243106, 95243197], [95244494, 95244563], [95246094, 95246161], [95248228, 95248529]] [[95227035, 95227106], [95228567, 95228665], [95229624, 95229683], [95230258, 95230424], [95230983, 95231027], [95232147, 95232207], [95233344, 95233443], [95235347, 95235490], [95243106, 95243197], [95244494, 95244563], [95246094, 95246151]]
NM_014305 [[95226307, 95227106], [95228567, 95228665], [95229624, 95229683], [95230258, 95230424], [95230983, 95231027], [95232147, 95232207], [95233344, 95233443], [95235347, 95235490], [95243106, 95243197], [95244494, 95244563], [95246094, 95246161], [95248304, 95248529]] [[95227035, 95227106], [95228567, 95228665], [95229624, 95229683], [95230258, 95230424], [95230983, 95231027], [95232147, 95232207], [95233344, 95233443], [95235347, 95235490], [95243106, 95243197], [95244494, 95244563], [95246094, 95246161], [95248304, 95248390]]
NR_130731 [[95226307, 95227106], [95228567, 95228665], [95229624, 95229683], [95230258, 95230424], [95230983, 95231027], [95232147, 95232207], [95233344, 95233443], [95235347, 95235490], [95243110, 95243197], [95244494, 95244563], [95246094, 95246161], [95248304, 95248529]] None
NR_130732 [[95226307, 95227106], [95228567, 95228665], [95229624, 95229683], [95230258, 95230424], [95230983, 95231027], [95232147, 95232207], [95233344, 95233443], [95235347, 95235490], [95244494, 95244563], [95246094, 95246161], [95248304, 95248529]] None
Promoter
Chrom Start End Description
chr13 95248391 95248398 CAGE_peak_4_at_TGDS_5end
chr13 95248399 95248442 CAGE_peak_1_at_TGDS_5end
chr13 95248461 95248472 CAGE_peak_5_at_TGDS_5end
chr13 95248489 95248510 CAGE_peak_3_at_TGDS_5end
chr13 95248511 95248537 CAGE_peak_2_at_TGDS_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I095551 95551998 95553822 1.26 [{'connected_gene': 'CLDN10', 'score': 550.13}, {'connected_gene': 'TGDS', 'score': 9.91}, {'connected_gene': 'DNAJC3', 'score': 6.15}, {'connected_gene': 'DNAJC3-AS1', 'score': 5.48}, {'connected_gene': 'GC13P095540', 'score': 0.39}, {'connected_gene': 'GC13M095580', 'score': 0.31}]
chr13 GH13I094594 94594378 94596890 2 [{'connected_gene': 'TGDS', 'score': 550.77}, {'connected_gene': 'GPR180', 'score': 65.15}, {'connected_gene': 'DCT', 'score': 0.25}]
chr13 GH13I094617 94617527 94617656 0.56 [{'connected_gene': 'TGDS', 'score': 11.68}, {'connected_gene': 'GC13P094634', 'score': 0.37}, {'connected_gene': 'GPR180', 'score': 0.37}]
chr13 GH13I094481 94481629 94482077 0.52 [{'connected_gene': 'TGDS', 'score': 13.68}, {'connected_gene': 'TRF-GAA1-5', 'score': 0.2}, {'connected_gene': 'DCT', 'score': 0.2}, {'connected_gene': 'GC13M094348', 'score': 0.12}]
chr13 GH13I094482 94482087 94482236 0.52 [{'connected_gene': 'TGDS', 'score': 13.68}, {'connected_gene': 'TRF-GAA1-5', 'score': 0.2}, {'connected_gene': 'DCT', 'score': 0.2}, {'connected_gene': 'GC13M094348', 'score': 0.12}]
chr13 GH13I094600 94600789 94603402 2.01 [{'connected_gene': 'GPR180', 'score': 618.24}, {'connected_gene': 'TGDS', 'score': 10.32}, {'connected_gene': 'GC13P094634', 'score': 0.29}]
chr13 GH13I094558 94558609 94560369 0.2 [{'connected_gene': 'GPR180', 'score': 31.32}, {'connected_gene': 'DCT', 'score': 0.44}, {'connected_gene': 'TGDS', 'score': 0.28}]
chr13 GH13I094710 94710047 94712184 0.93 [{'connected_gene': 'SOX21', 'score': 550.77}, {'connected_gene': 'GC13M094711', 'score': 550.77}, {'connected_gene': 'SOX21-AS1', 'score': 550.77}, {'connected_gene': 'TGDS', 'score': 10.02}, {'connected_gene': 'LOC101927248', 'score': 0.77}]
chr13 GH13I095253 95253861 95257403 0.94 [{'connected_gene': 'ABCC4', 'score': 21.26}, {'connected_gene': 'TGDS', 'score': 12.79}, {'connected_gene': 'LOC102724149', 'score': 0.25}, {'connected_gene': 'GC13M095121', 'score': 0.12}]
chr13 GH13I095534 95534018 95536016 0.97 [{'connected_gene': 'CLDN10-AS1', 'score': 559.08}, {'connected_gene': 'TGDS', 'score': 23.46}, {'connected_gene': 'ABCC4', 'score': 10.32}, {'connected_gene': 'CLDN10', 'score': 10.09}, {'connected_gene': 'GC13P095540', 'score': 0.44}]