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
ENST00000379919 [[36047925, 36050832]] [[36049195, 36050275]]
NM_005584 [[36047925, 36050832]] [[36049195, 36050275]]
Promoter
Chrom Start End Description
chr13 36050454 36050491 CAGE_peak_3_at_MAB21L1_5end
chr13 36050668 36050682 CAGE_peak_5_at_MAB21L1_5end
chr13 36050790 36050807 CAGE_peak_2_at_MAB21L1_5end
chr13 36050819 36050834 CAGE_peak_1_at_MAB21L1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I035562 35562561 35563011 0.4 [{'connected_gene': 'MAB21L1', 'score': 10.87}, {'connected_gene': 'NBEA', 'score': 10.73}, {'connected_gene': 'GC13P035514', 'score': 0.25}, {'connected_gene': 'LOC105370161', 'score': 0.12}]
chr13 GH13I035469 35469686 35479621 2.63 [{'connected_gene': 'MAB21L1', 'score': 550.77}, {'connected_gene': 'NBEA', 'score': 550.03}, {'connected_gene': 'ENSG00000261728', 'score': 4.97}, {'connected_gene': 'GC13P035361', 'score': 0.14}]
chr13 GH13I035926 35926262 35928549 0.93 [{'connected_gene': 'MAB21L1', 'score': 4.36}, {'connected_gene': 'LOC105370163', 'score': 0.19}, {'connected_gene': 'GC13P036065', 'score': 0.12}, {'connected_gene': 'DCLK1', 'score': 0.08}]
chr13 GH13I035922 35922794 35924510 0.59 [{'connected_gene': 'MAB21L1', 'score': 5.35}, {'connected_gene': 'LOC105370163', 'score': 0.2}, {'connected_gene': 'GC13P036065', 'score': 0.11}, {'connected_gene': 'DCLK1', 'score': 0.08}]
chr13 GH13I035952 35952810 35955653 1.07 [{'connected_gene': 'MAB21L1', 'score': 5.25}, {'connected_gene': 'LOC105370163', 'score': 0.15}, {'connected_gene': 'GC13P036065', 'score': 0.14}, {'connected_gene': 'DCLK1', 'score': 0.1}]
chr13 GH13I035957 35957042 35958260 0.4 [{'connected_gene': 'MAB21L1', 'score': 4.36}, {'connected_gene': 'PHBP13', 'score': 4.34}, {'connected_gene': 'LOC105370163', 'score': 0.15}, {'connected_gene': 'GC13P036065', 'score': 0.14}, {'connected_gene': 'DCLK1', 'score': 0.09}]
chr13 GH13I035204 35204406 35204619 0.29 [{'connected_gene': 'NBEA', 'score': 7.32}, {'connected_gene': 'MAB21L1', 'score': 3.34}, {'connected_gene': 'SCAND3P1', 'score': 0.37}, {'connected_gene': 'PHBP13', 'score': 0.25}]
chr13 GH13I035230 35230819 35230982 0.28 [{'connected_gene': 'NBEA', 'score': 7.26}, {'connected_gene': 'MAB21L1', 'score': 3.38}, {'connected_gene': 'PHBP13', 'score': 0.34}, {'connected_gene': 'SCAND3P1', 'score': 0.25}]
chr13 GH13I035978 35978624 35980986 1.05 [{'connected_gene': 'RNU6-71P', 'score': 11.31}, {'connected_gene': 'DCLK1', 'score': 10.64}, {'connected_gene': 'MAB21L1', 'score': 4.48}, {'connected_gene': 'GC13P036065', 'score': 0.17}, {'connected_gene': 'LOC105370163', 'score': 0.13}]
chr13 GH13I035387 35387798 35387913 0.43 [{'connected_gene': 'GC13P035361', 'score': 0.31}, {'connected_gene': 'MAB21L1', 'score': 0.17}, {'connected_gene': 'NBEA', 'score': 0.05}]
chr13 GH13I035388 35388053 35389835 0.54 [{'connected_gene': 'GC13P035361', 'score': 0.31}, {'connected_gene': 'MAB21L1', 'score': 0.17}, {'connected_gene': 'NBEA', 'score': 0.05}]
chr13 GH13I035480 35480056 35480457 0.24 [{'connected_gene': 'ENSG00000261728', 'score': 4.34}, {'connected_gene': 'GC13P035484', 'score': 0.77}, {'connected_gene': 'MAB21L1', 'score': 0.77}, {'connected_gene': 'NBEA', 'score': 0.03}]