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
ENST00000360945 [[58862633, 58862811], [58863015, 58863059], [58869397, 58869479], [58874043, 58874186], [58875246, 58875419]] [[58862675, 58862811], [58863015, 58863059], [58869397, 58869479], [58874043, 58874186], [58875246, 58875300]]
ENST00000557754 [[58862645, 58862811], [58863015, 58863059], [58874043, 58874186], [58875246, 58875331]] [[58862675, 58862811], [58863015, 58863059], [58874043, 58874088]]
NM_207377 [[58862643, 58862811], [58863015, 58863059], [58869397, 58869479], [58874043, 58874186], [58875246, 58875419]] [[58862675, 58862811], [58863015, 58863059], [58869397, 58869479], [58874043, 58874186], [58875246, 58875300]]
Promoter
Chrom Start End Description
chr14 58862501 58862511 CAGE_peak_3_at_TOMM20L_5end
chr14 58862630 58862662 CAGE_peak_1_at_TOMM20L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I058280 58280564 58282943 1.56 [{'connected_gene': 'ACTR10', 'score': 22.62}, {'connected_gene': 'TOMM20L', 'score': 10.84}, {'connected_gene': 'ENSG00000258682', 'score': 8.7}, {'connected_gene': 'ARID4A', 'score': 5.8}, {'connected_gene': 'HMGB1P14', 'score': 0.77}, {'connected_gene': 'PIR55001', 'score': 0.39}, {'connected_gene': 'C14orf37', 'score': 0.37}, {'connected_gene': 'PSMA3-AS1', 'score': 0.37}]
chr14 GH14I058445 58445193 58445371 0.25 [{'connected_gene': 'TOMM20L', 'score': 10.67}, {'connected_gene': 'KIAA0586', 'score': 1.62}, {'connected_gene': 'ENSG00000252198', 'score': 0.77}, {'connected_gene': 'HSBP1P1', 'score': 0.37}, {'connected_gene': 'GC14P058345', 'score': 0.15}]
chr14 GH14I058104 58104883 58105032 0.75 [{'connected_gene': 'TOMM20L', 'score': 20.1}, {'connected_gene': 'ENSG00000259969', 'score': 11.88}, {'connected_gene': 'SLC35F4', 'score': 11.36}, {'connected_gene': 'RPL31P4', 'score': 10.08}, {'connected_gene': 'LOC440181', 'score': 9.8}, {'connected_gene': 'GC14M058071', 'score': 0.77}, {'connected_gene': 'GC14P058110', 'score': 0.44}, {'connected_gene': 'C14orf37', 'score': 0.08}]
chr14 GH14I058455 58455261 58456529 0.66 [{'connected_gene': 'TOMM20L', 'score': 10.62}, {'connected_gene': 'HSBP1P1', 'score': 0.44}, {'connected_gene': 'ENSG00000252198', 'score': 0.39}, {'connected_gene': 'KIAA0586', 'score': 0.31}, {'connected_gene': 'GC14P058345', 'score': 0.14}]
chr14 GH14I058274 58274508 58276383 0.51 [{'connected_gene': 'TOMM20L', 'score': 11.15}, {'connected_gene': 'ENSG00000258682', 'score': 7.76}, {'connected_gene': 'PIR55001', 'score': 0.77}, {'connected_gene': 'HMGB1P14', 'score': 0.44}, {'connected_gene': 'C14orf37', 'score': 0.34}, {'connected_gene': 'PSMA3-AS1', 'score': 0.34}]
chr14 GH14I058372 58372509 58372884 0.4 [{'connected_gene': 'TOMM20L', 'score': 12.36}, {'connected_gene': 'LOC105370522', 'score': 0.34}, {'connected_gene': 'GC14P058345', 'score': 0.31}, {'connected_gene': 'ARID4A', 'score': 0.19}]
chr14 GH14I058352 58352595 58354283 0.4 [{'connected_gene': 'TOMM20L', 'score': 11.51}, {'connected_gene': 'GC14P058345', 'score': 0.44}, {'connected_gene': 'LOC105370522', 'score': 0.26}, {'connected_gene': 'ARID4A', 'score': 0.22}]
chr14 GH14I058395 58395068 58396823 1.9 [{'connected_gene': 'TOMM20L', 'score': 550.77}, {'connected_gene': 'LOC105370522', 'score': 550.77}, {'connected_gene': 'ENSG00000258378', 'score': 0.77}, {'connected_gene': 'GC14P058345', 'score': 0.23}]
chr14 GH14I058329 58329987 58331933 0.94 [{'connected_gene': 'PSMA3-AS1', 'score': 29.72}, {'connected_gene': 'ENSG00000258682', 'score': 14.86}, {'connected_gene': 'ARID4A', 'score': 10.48}, {'connected_gene': 'TOMM20L', 'score': 10.11}, {'connected_gene': 'GC14P058345', 'score': 0.39}]
chr14 GH14I058296 58296200 58300650 2.53 [{'connected_gene': 'PSMA3-AS1', 'score': 570.55}, {'connected_gene': 'ARID4A', 'score': 557.25}, {'connected_gene': 'C14orf37', 'score': 550.77}, {'connected_gene': 'KIAA0586', 'score': 25.08}, {'connected_gene': 'ENSG00000258682', 'score': 24.68}, {'connected_gene': 'TIMM9', 'score': 13.82}, {'connected_gene': 'TOMM20L', 'score': 10.77}, {'connected_gene': 'ACTR10', 'score': 6.46}, {'connected_gene': 'GC14P058345', 'score': 0.25}]
chr14 GH14I058260 58260120 58260720 0.24 [{'connected_gene': 'RNU6-341P', 'score': 11.7}, {'connected_gene': 'TOMM20L', 'score': 10.32}, {'connected_gene': 'ENSG00000258682', 'score': 0.77}, {'connected_gene': 'PSMA3', 'score': 0.37}, {'connected_gene': 'C14orf37', 'score': 0.28}]