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
ENST00000261980 [[74706174, 74706634], [74707884, 74707969], [74711867, 74711991], [74726304, 74726485], [74727296, 74729441]] [[74706264, 74706634], [74707884, 74707969], [74711867, 74711991], [74726304, 74726485], [74727296, 74727622]]
NM_182894 [[74706174, 74706634], [74707884, 74707969], [74711867, 74711991], [74726304, 74726485], [74727296, 74729441]] [[74706264, 74706634], [74707884, 74707969], [74711867, 74711991], [74726304, 74726485], [74727296, 74727622]]
Promoter
Chrom Start End Description
chr14 74706150 74706155 CAGE_peak_1_at_VSX2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I074251 74251201 74252027 1.04 [{'connected_gene': 'ELMSAN1', 'score': 18.03}, {'connected_gene': 'ZNF410', 'score': 16.58}, {'connected_gene': 'NUMB', 'score': 14.8}, {'connected_gene': 'NEK9', 'score': 11.55}, {'connected_gene': 'ABCD4', 'score': 10.89}, {'connected_gene': 'ENSG00000258559', 'score': 10.65}, {'connected_gene': 'FCF1', 'score': 10.51}, {'connected_gene': 'SYNDIG1L', 'score': 9.56}, {'connected_gene': 'VSX2', 'score': 6.67}, {'connected_gene': 'ALDH6A1', 'score': 5.18}, {'connected_gene': 'GC14M074212', 'score': 0.07}]
chr14 GH14I074387 74387546 74396660 0.52 [{'connected_gene': 'SYNDIG1L', 'score': 11.62}, {'connected_gene': 'ABCD4', 'score': 10.97}, {'connected_gene': 'VSX2', 'score': 10.32}, {'connected_gene': 'LTBP2', 'score': 10.05}, {'connected_gene': 'ENSG00000259005', 'score': 4.81}, {'connected_gene': 'ENSG00000270000', 'score': 4.57}, {'connected_gene': 'LIN52', 'score': 4.13}, {'connected_gene': 'RPS2P2', 'score': 0.39}, {'connected_gene': 'GC14M074406', 'score': 0.37}, {'connected_gene': 'GC14M074212', 'score': 0.13}]
chr14 GH14I074239 74239029 74241912 1.02 [{'connected_gene': 'VSX2', 'score': 558.64}, {'connected_gene': 'ABCD4', 'score': 10.41}, {'connected_gene': 'SYNDIG1L', 'score': 9.64}, {'connected_gene': 'ENSG00000258559', 'score': 6.09}, {'connected_gene': 'GC14M074212', 'score': 0.06}]
chr14 GH14I074256 74256977 74259012 0.9 [{'connected_gene': 'VSX2', 'score': 7.13}, {'connected_gene': 'ALDH6A1', 'score': 6.62}, {'connected_gene': 'ENSG00000258559', 'score': 6.02}, {'connected_gene': 'GC14M074212', 'score': 0.07}]
chr14 GH14I074155 74155219 74155521 0.51 [{'connected_gene': 'VSX2', 'score': 11.26}, {'connected_gene': 'LOC105370563', 'score': 0.39}, {'connected_gene': 'RN7SL530P', 'score': 0.37}, {'connected_gene': 'LIN52', 'score': 0.19}]
chr14 GH14I074217 74217564 74218428 1 [{'connected_gene': 'LOC105370564', 'score': 550.77}, {'connected_gene': 'LIN52', 'score': 10.69}, {'connected_gene': 'ALDH6A1', 'score': 10.69}, {'connected_gene': 'SYNDIG1L', 'score': 9.3}, {'connected_gene': 'PTGR2', 'score': 6.12}, {'connected_gene': 'FAM161B', 'score': 5.8}, {'connected_gene': 'ACOT2', 'score': 5.15}, {'connected_gene': 'VSX2', 'score': 0.34}, {'connected_gene': 'GC14M074212', 'score': 0.06}]
chr14 GH14I074274 74274970 74275850 0.86 [{'connected_gene': 'ENSG00000258559', 'score': 7.2}, {'connected_gene': 'ABCD4', 'score': 4.98}, {'connected_gene': 'FCF1', 'score': 1.23}, {'connected_gene': 'VSX2', 'score': 0.28}, {'connected_gene': 'GC14M074212', 'score': 0.07}]