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
ENST00000381848 [[4522542, 4524097], [4524974, 4525088], [4525644, 4525844], [4529084, 4529265], [4529795, 4529878], [4531638, 4531834], [4534026, 4534107], [4535176, 4535236]] [[4523539, 4524097], [4524974, 4525088], [4525644, 4525844], [4529084, 4529265], [4529795, 4529878], [4531638, 4531834], [4534026, 4534086]]
ENST00000589728 [[4523920, 4524097], [4524974, 4525088], [4525644, 4525861]] None
ENST00000590350 [[4529289, 4529878], [4531638, 4531834], [4534026, 4534107], [4535176, 4535197]] None
ENST00000588887 [[4529421, 4529598], [4529795, 4529878], [4531638, 4531834], [4534026, 4534107], [4535176, 4535236]] [[4529421, 4529598], [4529795, 4529878], [4531638, 4531834], [4534026, 4534086]]
ENST00000592610 [[4532383, 4534286]] [[4533909, 4534086]]
ENST00000586133 [[4533260, 4534107], [4535176, 4535236]] [[4533909, 4534086]]
NM_001013706 [[4522542, 4524097], [4524974, 4525088], [4525644, 4525844], [4529084, 4529265], [4529795, 4529878], [4531638, 4531834], [4534026, 4534107], [4535176, 4535208]] [[4523539, 4524097], [4524974, 4525088], [4525644, 4525844], [4529084, 4529265], [4529795, 4529878], [4531638, 4531834], [4534026, 4534086]]
Promoter
Chrom Start End Description
chr19 4535233 4535238 CAGE_peak_1_at_PLIN5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH19I004056 4056870 4069592 2.61 [{'connected_gene': 'ZBTB7A', 'score': 554.64}, {'connected_gene': 'ENSG00000268670', 'score': 550.77}, {'connected_gene': 'SEMA6B', 'score': 14.61}, {'connected_gene': 'CACTIN-AS1', 'score': 12.79}, {'connected_gene': 'PIAS4', 'score': 10.29}, {'connected_gene': 'CACTIN', 'score': 9.77}, {'connected_gene': 'NFIC', 'score': 4.72}, {'connected_gene': 'PLIN5', 'score': 2.2}, {'connected_gene': 'UBXN6', 'score': 2.03}, {'connected_gene': 'SIRT6', 'score': 1.76}, {'connected_gene': 'ATCAY', 'score': 1.65}, {'connected_gene': 'CCDC94', 'score': 1.65}, {'connected_gene': 'MATK', 'score': 1.37}]
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 GH19I004536 4536736 4537394 0.72 [{'connected_gene': 'PLIN5', 'score': 561.85}, {'connected_gene': 'GC19M004536', 'score': 550.77}, {'connected_gene': 'GC19P004539', 'score': 550.77}, {'connected_gene': 'ENSG00000267385', 'score': 0.77}, {'connected_gene': 'LRG1', 'score': 0.77}]
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 GH19I003559 3559897 3567972 1.64 [{'connected_gene': 'CACTIN-AS1', 'score': 22.66}, {'connected_gene': 'CCDC94', 'score': 19.05}, {'connected_gene': 'CACTIN', 'score': 14.65}, {'connected_gene': 'ZNF77', 'score': 13.35}, {'connected_gene': 'TBXA2R', 'score': 12.72}, {'connected_gene': 'NCLN', 'score': 10.33}, {'connected_gene': 'ENSG00000267030', 'score': 9.79}, {'connected_gene': 'LOC101928631', 'score': 6.3}, {'connected_gene': 'PLIN5', 'score': 5.29}, {'connected_gene': 'ENSG00000279590', 'score': 0.77}, {'connected_gene': 'ENSG00000267231', 'score': 0.44}, {'connected_gene': 'MFSD12', 'score': 0.39}]
chr19 GH19I003965 3965871 3971793 2.49 [{'connected_gene': 'DAPK3', 'score': 556.09}, {'connected_gene': 'CACTIN-AS1', 'score': 12.79}, {'connected_gene': 'PIAS4', 'score': 10.34}, {'connected_gene': 'PLIN5', 'score': 4.43}, {'connected_gene': 'MIR637', 'score': 0.44}, {'connected_gene': 'GC19M003970', 'score': 0.44}]
chr19 GH19I004539 4539001 4545000 2.18 [{'connected_gene': 'LRG1', 'score': 559.46}, {'connected_gene': 'ENSG00000267385', 'score': 550.77}, {'connected_gene': 'SH3GL1', 'score': 13.75}, {'connected_gene': 'ENSG00000267255', 'score': 13.06}, {'connected_gene': 'PLIN5', 'score': 12.05}, {'connected_gene': 'CCDC94', 'score': 11.22}, {'connected_gene': 'KDM4B', 'score': 8.42}, {'connected_gene': 'TICAM1', 'score': 6.78}, {'connected_gene': 'SEMA6B', 'score': 2.75}, {'connected_gene': 'ZBTB7A', 'score': 2.23}, {'connected_gene': 'GC19P004547', 'score': 0.77}, {'connected_gene': 'GC19P004539', 'score': 0.77}]
chr19 GH19I004538 4538601 4538800 0.4 [{'connected_gene': 'GC19M004536', 'score': 550.77}, {'connected_gene': 'GC19P004539', 'score': 550.77}, {'connected_gene': 'ENSG00000267385', 'score': 550.77}, {'connected_gene': 'LRG1', 'score': 550.77}, {'connected_gene': 'PLIN5', 'score': 8.9}]