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
ENST00000359358 [[30252633, 30254760], [30257135, 30257293], [30260131, 30260290], [30260371, 30260562], [30267117, 30267196], [30275425, 30275515], [30321890, 30322012], [30349607, 30350597], [30352629, 30353025]] [[30254619, 30254760], [30257135, 30257293], [30260131, 30260290], [30260371, 30260562], [30267117, 30267196], [30275425, 30275515], [30321890, 30322012], [30349607, 30350554]]
ENST00000358095 [[30313649, 30314208], [30321890, 30322012], [30349607, 30350597], [30352629, 30352842]] [[30314110, 30314208], [30321890, 30322012], [30349607, 30350554]]
ENST00000583263 [[30349953, 30350597], [30352009, 30352130]] [[30349953, 30350597], [30352009, 30352047]]
NM_020805 [[30252635, 30254760], [30257135, 30257293], [30260131, 30260290], [30260371, 30260562], [30267117, 30267196], [30275425, 30275515], [30321890, 30322012], [30349607, 30350597], [30352629, 30352974]] [[30254619, 30254760], [30257135, 30257293], [30260131, 30260290], [30260371, 30260562], [30267117, 30267196], [30275425, 30275515], [30321890, 30322012], [30349607, 30350554]]
Promoter
Chrom Start End Description
chr18 30350270 30350285 CAGE_peak_1_at_KLHL14_5end
chr18 30350293 30350305 CAGE_peak_2_at_KLHL14_5end
chr18 30353111 30353126 CAGE_peak_7_at_KLHL14_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I032773 32773149 32773208 0.68 [{'connected_gene': 'KLHL14', 'score': 550.77}, {'connected_gene': 'LOC105372055', 'score': 0.77}, {'connected_gene': 'RPS27P28', 'score': 0.44}]
chr18 GH18I032774 32773242 32773513 0.58 [{'connected_gene': 'KLHL14', 'score': 550.77}, {'connected_gene': 'LOC105372055', 'score': 0.77}, {'connected_gene': 'RPS27P28', 'score': 0.44}]
chr18 GH18I032759 32759830 32761751 0.49 [{'connected_gene': 'KLHL14', 'score': 4.9}, {'connected_gene': 'LOC105372055', 'score': 0.44}, {'connected_gene': 'GC18M032739', 'score': 0.37}]
chr18 GH18I032768 32768110 32772949 1.87 [{'connected_gene': 'KLHL14', 'score': 555.96}, {'connected_gene': 'LOC105372055', 'score': 550.77}]
chr18 GH18I032801 32801873 32805172 1.11 [{'connected_gene': 'GC18M032787', 'score': 550.77}, {'connected_gene': 'KLHL14', 'score': 16.84}, {'connected_gene': 'LOC105372058', 'score': 0.31}]
chr18 GH18I032714 32714658 32714827 0.72 [{'connected_gene': 'GC18M032739', 'score': 0.31}, {'connected_gene': 'KLHL14', 'score': 0.22}, {'connected_gene': 'ENSG00000263688', 'score': 0.12}]
chr18 GH18I032730 32730180 32731200 1.29 [{'connected_gene': 'GC18M032739', 'score': 0.39}, {'connected_gene': 'KLHL14', 'score': 0.26}, {'connected_gene': 'ENSG00000263688', 'score': 0.11}]
chr18 GH18I032743 32742677 32742931 0.63 [{'connected_gene': 'GC18M032739', 'score': 550.77}, {'connected_gene': 'KLHL14', 'score': 12.4}, {'connected_gene': 'ENSG00000263688', 'score': 0.1}]
chr18 GH18I032696 32696475 32696686 0.4 [{'connected_gene': 'GC18M032739', 'score': 0.25}, {'connected_gene': 'KLHL14', 'score': 0.18}, {'connected_gene': 'ENSG00000263688', 'score': 0.13}]
chr18 GH18I032742 32742247 32742514 0.51 [{'connected_gene': 'GC18M032739', 'score': 550.77}, {'connected_gene': 'KLHL14', 'score': 16.97}, {'connected_gene': 'ENSG00000263688', 'score': 0.1}]
chr18 GH18I032698 32698318 32698646 0.66 [{'connected_gene': 'GC18M032739', 'score': 0.25}, {'connected_gene': 'KLHL14', 'score': 0.19}, {'connected_gene': 'ENSG00000263688', 'score': 0.13}]