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
ENST00000589852 [[16296190, 16296576], [16301330, 16301384], [16301697, 16302425]] [[16296420, 16296576], [16301330, 16301384], [16301697, 16301766]]
ENST00000263384 [[16296228, 16296327], [16296434, 16296576], [16301330, 16301384], [16301697, 16302857]] [[16296253, 16296327], [16296434, 16296576], [16301330, 16301384], [16301697, 16301766]]
ENST00000588367 [[16296233, 16296327], [16296434, 16296576], [16301697, 16302259]] [[16296253, 16296327], [16296434, 16296576], [16301697, 16301766]]
ENST00000585831 [[16296243, 16296327], [16296434, 16296576], [16300198, 16300322], [16301330, 16301384], [16301697, 16302189]] [[16296253, 16296327], [16296434, 16296576], [16300198, 16300306]]
ENST00000587351 [[16296265, 16296327], [16296434, 16296576], [16297263, 16297460]] [[16296265, 16296327], [16296434, 16296576], [16297263, 16297308]]
NM_014077 [[16296211, 16296327], [16296434, 16296576], [16301330, 16301384], [16301697, 16302857]] [[16296253, 16296327], [16296434, 16296576], [16301330, 16301384], [16301697, 16301766]]
Promoter
Chrom Start End Description
chr19 16296214 16296250 CAGE_peak_1_at_FAM32A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I016195 16195114 16201258 2.09 [{'connected_gene': 'AP1M1', 'score': 566.62}, {'connected_gene': 'GC19M016194', 'score': 550.77}, {'connected_gene': 'C19orf44', 'score': 10.1}, {'connected_gene': 'ENSG00000141979', 'score': 10.08}, {'connected_gene': 'FAM32A', 'score': 5.26}, {'connected_gene': 'GC19M016236', 'score': 0.28}]
chr19 GH19I016182 16182201 16183479 1.04 [{'connected_gene': 'AP1M1', 'score': 6.8}, {'connected_gene': 'FAM32A', 'score': 0.77}, {'connected_gene': 'GC19M016168', 'score': 0.44}]
chr19 GH19I016091 16091435 16099081 1.4 [{'connected_gene': 'HSH2D', 'score': 18.18}, {'connected_gene': 'CIB3', 'score': 12.07}, {'connected_gene': 'FAM32A', 'score': 12.05}, {'connected_gene': 'EPS15L1', 'score': 3.94}, {'connected_gene': 'RAB8A', 'score': 2.3}, {'connected_gene': 'ENSG00000267373', 'score': 0.44}, {'connected_gene': 'ENSG00000279198', 'score': 0.37}, {'connected_gene': 'TPM4', 'score': 0.31}]
chr19 GH19I016101 16101316 16102221 0.2 [{'connected_gene': 'TPM4', 'score': 12.95}, {'connected_gene': 'CIB3', 'score': 12.08}, {'connected_gene': 'FAM32A', 'score': 12.06}, {'connected_gene': 'AP1M1', 'score': 11.27}, {'connected_gene': 'ENSG00000267373', 'score': 0.77}, {'connected_gene': 'ENSG00000279198', 'score': 0.34}]
chr19 GH19I016184 16184714 16186598 1.99 [{'connected_gene': 'FAM32A', 'score': 550.77}, {'connected_gene': 'ENSG00000275901', 'score': 550.77}, {'connected_gene': 'MED26', 'score': 19.36}, {'connected_gene': 'HAUS8', 'score': 13.88}, {'connected_gene': 'CHERP', 'score': 13.09}, {'connected_gene': 'AKAP8', 'score': 10.58}, {'connected_gene': 'C19orf44', 'score': 10.54}, {'connected_gene': 'BRD4', 'score': 10.21}, {'connected_gene': 'ENSG00000268743', 'score': 10.21}, {'connected_gene': 'AP1M1', 'score': 8.54}, {'connected_gene': 'KLF2', 'score': 7.69}, {'connected_gene': 'ENSG00000267033', 'score': 0.77}]
chr19 GH19I016148 16148201 16151133 0.97 [{'connected_gene': 'CIB3', 'score': 13.84}, {'connected_gene': 'FAM32A', 'score': 13.78}, {'connected_gene': 'AP1M1', 'score': 6.86}, {'connected_gene': 'ENSG00000269243', 'score': 0.44}, {'connected_gene': 'HSH2D', 'score': 0.37}]
chr19 GH19I016180 16180106 16181249 0.43 [{'connected_gene': 'KLF2', 'score': 8.07}, {'connected_gene': 'FAM32A', 'score': 0.77}, {'connected_gene': 'GC19M016168', 'score': 0.44}]
chr19 GH19I016040 16040461 16042000 1.03 [{'connected_gene': 'GC19P020200', 'score': 550.77}, {'connected_gene': 'GC19P020003', 'score': 550.77}, {'connected_gene': 'GC19P019991', 'score': 550.77}, {'connected_gene': 'PIR43139', 'score': 550.77}, {'connected_gene': 'GC19P020107', 'score': 550.77}, {'connected_gene': 'GC19P020051', 'score': 550.77}, {'connected_gene': 'GC19P019999', 'score': 550.77}, {'connected_gene': 'GC19P020066', 'score': 550.77}, {'connected_gene': 'GC19P020002', 'score': 550.77}, {'connected_gene': 'PIR50480', 'score': 550.77}, {'connected_gene': 'GC19P020064', 'score': 550.77}, {'connected_gene': 'PIR56721', 'score': 550.77}, {'connected_gene': 'GC19P020089', 'score': 550.77}, {'connected_gene': 'PIR55179', 'score': 550.77}, {'connected_gene': 'PIR40826', 'score': 550.77}, {'connected_gene': 'GC19P020171', 'score': 550.77}, {'connected_gene': 'PIR46894', 'score': 550.77}, {'connected_gene': 'PIR62552', 'score': 550.77}, {'connected_gene': 'GC19P020177', 'score': 550.77}, {'connected_gene': 'GC19P020205', 'score': 550.77}, {'connected_gene': 'GC19P020028', 'score': 550.77}, {'connected_gene': 'GC19P020027', 'score': 550.77}, {'connected_gene': 'PIR31653', 'score': 550.77}, {'connected_gene': 'GC19P019935', 'score': 550.77}, {'connected_gene': 'PIR57771', 'score': 550.77}, {'connected_gene': 'PIR41477', 'score': 550.77}, {'connected_gene': 'PIR36207', 'score': 550.77}, {'connected_gene': 'GC19P020218', 'score': 550.77}, {'connected_gene': 'PIR58392', 'score': 550.77}, {'connected_gene': 'GC19P019886', 'score': 550.77}, {'connected_gene': 'PIR51994', 'score': 550.77}, {'connected_gene': 'GC19P020044', 'score': 550.77}, {'connected_gene': 'PIR53395', 'score': 550.77}, {'connected_gene': 'PIR51467', 'score': 550.77}, {'connected_gene': 'GC19P020005', 'score': 550.77}, {'connected_gene': 'GC19P019966', 'score': 550.77}, {'connected_gene': 'PIR57305', 'score': 550.77}, {'connected_gene': 'GC19P020138', 'score': 550.77}, {'connected_gene': 'GC19P020160', 'score': 550.77}, {'connected_gene': 'GC19P019895', 'score': 550.77}, {'connected_gene': 'GC19P019989', 'score': 550.77}, {'connected_gene': 'PIR36547', 'score': 550.77}, {'connected_gene': 'PIR54487', 'score': 550.77}, {'connected_gene': 'GC19P020112', 'score': 550.77}, {'connected_gene': 'PIR36365', 'score': 550.77}, {'connected_gene': 'GC19P019982', 'score': 550.77}, {'connected_gene': 'GC19P020183', 'score': 550.77}, {'connected_gene': 'PIR42646', 'score': 550.77}, {'connected_gene': 'PIR34603', 'score': 550.77}, {'connected_gene': 'PIR34872', 'score': 550.77}, {'connected_gene': 'GC19P020161', 'score': 550.77}, {'connected_gene': 'GC19P019932', 'score': 550.77}, {'connected_gene': 'PIR40891', 'score': 550.77}, {'connected_gene': 'PIR54694', 'score': 550.77}, {'connected_gene': 'PIR38270', 'score': 550.77}, {'connected_gene': 'GC19P020021', 'score': 550.77}, {'connected_gene': 'PIR36485', 'score': 550.77}, {'connected_gene': 'PIR52874', 'score': 550.77}, {'connected_gene': 'PIR34291', 'score': 550.77}, {'connected_gene': 'PIR51955', 'score': 550.77}, {'connected_gene': 'GC19P020128', 'score': 550.77}, {'connected_gene': 'GC19P020088', 'score': 550.77}, {'connected_gene': 'PIR62405', 'score': 550.77}, {'connected_gene': 'GC19P019885', 'score': 550.77}, {'connected_gene': 'GC19P020166', 'score': 550.77}, {'connected_gene': 'GC19P019952', 'score': 550.77}, {'connected_gene': 'PIR40315', 'score': 550.77}, {'connected_gene': 'GC19P020020', 'score': 550.77}, {'connected_gene': 'PIR49346', 'score': 550.77}, {'connected_gene': 'GC19P020032', 'score': 550.77}, {'connected_gene': 'PIR50815', 'score': 550.77}, {'connected_gene': 'CIB3', 'score': 11.84}, {'connected_gene': 'FAM32A', 'score': 11.84}, {'connected_gene': 'SNX33P1', 'score': 11.51}, {'connected_gene': 'AP1M1', 'score': 11.31}, {'connected_gene': 'OR10H4', 'score': 10.52}, {'connected_gene': 'OR10H5', 'score': 9.53}, {'connected_gene': 'LINC00905', 'score': 6.44}, {'connected_gene': 'GC19P020273', 'score': 0.77}, {'connected_gene': 'OR1AB1P', 'score': 0.39}, {'connected_gene': 'PIRC97', 'score': 0.26}]