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
ENST00000547990 [[55224302, 55224659], [55248899, 55248941], [55250553, 55250676], [55251976, 55252044]] None
ENST00000546809 [[55233152, 55233231], [55248899, 55248941], [55250553, 55250676], [55251976, 55252171]] [[55233188, 55233231], [55248899, 55248941], [55250553, 55250676], [55251976, 55252026]]
ENST00000547958 [[55248299, 55248424], [55248899, 55249264]] None
ENST00000308796 [[55248320, 55248424], [55248899, 55248941], [55250553, 55250676], [55251976, 55252177]] [[55248366, 55248424], [55248899, 55248941], [55250553, 55250676], [55251976, 55252026]]
NM_058173 [[55248298, 55248424], [55248899, 55248941], [55250553, 55250676], [55251976, 55252177]] [[55248366, 55248424], [55248899, 55248941], [55250553, 55250676], [55251976, 55252026]]
Promoter
Chrom Start End Description
chr12 55224189 55224198 CAGE_peak_9_at_MUCL1_5end
chr12 55224312 55224339 CAGE_peak_6_at_MUCL1_5end
chr12 55224343 55224377 CAGE_peak_4_at_MUCL1_5end
chr12 55224381 55224392 CAGE_peak_7_at_MUCL1_5end
chr12 55224450 55224471 CAGE_peak_2_at_MUCL1_5end
chr12 55224476 55224495 CAGE_peak_3_at_MUCL1_5end
chr12 55224505 55224522 CAGE_peak_5_at_MUCL1_5end
chr12 55224582 55224591 CAGE_peak_10_at_MUCL1_5end
chr12 55248289 55248306 CAGE_peak_1_at_MUCL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I054932 54932494 54938054 1.54 [{'connected_gene': 'TESPA1', 'score': 10.88}, {'connected_gene': 'NEUROD4', 'score': 9.9}, {'connected_gene': 'MUCL1', 'score': 5.01}, {'connected_gene': 'NCKAP1L', 'score': 1.89}, {'connected_gene': 'OR6C65', 'score': 1.44}, {'connected_gene': 'OR6C3', 'score': 1.17}, {'connected_gene': 'LOC105369778', 'score': 0.39}, {'connected_gene': 'GC12P054906', 'score': 0.31}]
chr12 GH12I054740 54740309 54742655 0.2 [{'connected_gene': 'TESPA1', 'score': 10.54}, {'connected_gene': 'MUCL1', 'score': 8.14}, {'connected_gene': 'GC12M054691', 'score': 0.37}, {'connected_gene': 'ENSG00000257634', 'score': 0.22}]
chr12 GH12I054857 54857489 54857698 0.23 [{'connected_gene': 'GPR84', 'score': 27.13}, {'connected_gene': 'TESPA1', 'score': 10.22}, {'connected_gene': 'ZNF385A', 'score': 6.76}, {'connected_gene': 'ITGA5', 'score': 2.92}, {'connected_gene': 'NCKAP1L', 'score': 2.62}, {'connected_gene': 'GC12P054861', 'score': 0.77}, {'connected_gene': 'MUCL1', 'score': 0.31}]
chr12 GH12I054847 54847001 54847400 0.43 [{'connected_gene': 'ZNF385A', 'score': 5.73}, {'connected_gene': 'MUCL1', 'score': 5.49}, {'connected_gene': 'GC12P054861', 'score': 0.39}]
chr12 GH12I054734 54734184 54735132 0.56 [{'connected_gene': 'MUCL1', 'score': 7.73}, {'connected_gene': 'GC12M054691', 'score': 0.34}, {'connected_gene': 'ENSG00000257634', 'score': 0.23}]
chr12 GH12I054854 54854037 54854186 0.62 [{'connected_gene': 'MUCL1', 'score': 5.57}, {'connected_gene': 'GC12P054861', 'score': 0.44}]
chr12 GH12I054855 54854467 54854526 0.73 [{'connected_gene': 'MUCL1', 'score': 550.34}, {'connected_gene': 'GC12P054861', 'score': 0.44}]