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
ENST00000301286 [[4502203, 4504797], [4504872, 4504959], [4508779, 4508967], [4510457, 4513716], [4516628, 4516690], [4517565, 4517716]] [[4504470, 4504797], [4504872, 4504959], [4508779, 4508967], [4510457, 4513716], [4516628, 4516690], [4517565, 4517716]]
NM_001080400 [[4502191, 4504797], [4504872, 4504959], [4508779, 4508967], [4510457, 4513716], [4516628, 4516690], [4517565, 4517716]] [[4504470, 4504797], [4504872, 4504959], [4508779, 4508967], [4510457, 4513716], [4516628, 4516690], [4517565, 4517716]]
Promoter
Chrom Start End Description
chr19 4512807 4512811 CAGE_peak_2_at_PLIN4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I004504 4504195 4505381 0.58 [{'connected_gene': 'UBXN6', 'score': 5.57}, {'connected_gene': 'PLIN4', 'score': 0.39}, {'connected_gene': 'GC19P004486', 'score': 0.37}]
chr19 GH19I004516 4516956 4520342 1.73 [{'connected_gene': 'PLIN4', 'score': 550.77}, {'connected_gene': 'CACTIN', 'score': 14.46}, {'connected_gene': 'PLIN5', 'score': 10.7}, {'connected_gene': 'CCDC94', 'score': 10.47}, {'connected_gene': 'CACTIN-AS1', 'score': 10.16}]
chr19 GH19I004503 4503603 4504120 0.43 [{'connected_gene': 'PLIN4', 'score': 0.39}, {'connected_gene': 'GC19P004486', 'score': 0.37}]
chr19 GH19I004513 4513076 4514314 0.43 [{'connected_gene': 'PLIN4', 'score': 0.77}, {'connected_gene': 'GC19P004486', 'score': 0.31}]
chr19 GH19I004534 4534429 4536000 1.8 [{'connected_gene': 'PLIN5', 'score': 563.47}, {'connected_gene': 'ENSG00000267385', 'score': 0.77}, {'connected_gene': 'PLIN4', 'score': 0.37}]
chr19 GH19I004531 4531609 4531758 1.04 [{'connected_gene': 'PLIN5', 'score': 0.77}, {'connected_gene': 'ENSG00000267385', 'score': 0.44}, {'connected_gene': 'PLIN4', 'score': 0.39}]
chr19 GH19I004510 4510312 4513031 0.43 [{'connected_gene': 'PLIN5', 'score': 7.07}, {'connected_gene': 'CHAF1A', 'score': 6.27}, {'connected_gene': 'PLIN4', 'score': 6.19}, {'connected_gene': 'UBXN6', 'score': 6.07}, {'connected_gene': 'ENSG00000267769', 'score': 5.17}, {'connected_gene': 'GC19P004486', 'score': 0.34}]
chr19 GH19I004505 4505919 4507375 0.83 [{'connected_gene': 'CHAF1A', 'score': 7.17}, {'connected_gene': 'UBXN6', 'score': 5.7}, {'connected_gene': 'PLIN4', 'score': 0.39}, {'connected_gene': 'GC19P004486', 'score': 0.37}]