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
ENST00000497241 [[111968530, 111968604], [111973203, 111973295], [111980529, 111980640], [111991640, 111991785], [111992209, 111992279], [111995102, 111995278], [111996429, 111996596]] [[111968557, 111968604], [111973203, 111973295], [111980529, 111980640], [111991640, 111991645]]
ENST00000283547 [[111973014, 111973109], [111973203, 111973295], [111980529, 111980640], [111992209, 111992279], [111995102, 111995278], [111996429, 111996594]] [[111973237, 111973295], [111980529, 111980640], [111992209, 111992279], [111995102, 111995278], [111996429, 111996470]]
NM_001303133 [[111968531, 111968604], [111973203, 111973295], [111980529, 111980640], [111991640, 111991785], [111992209, 111992279], [111995102, 111995278], [111996429, 111996594]] [[111980547, 111980640], [111991640, 111991785], [111992209, 111992279], [111995102, 111995278], [111996429, 111996470]]
NM_152324 [[111972990, 111973109], [111973203, 111973295], [111980529, 111980640], [111992209, 111992279], [111995102, 111995278], [111996429, 111996594]] [[111973237, 111973295], [111980529, 111980640], [111992209, 111992279], [111995102, 111995278], [111996429, 111996470]]
Promoter
Chrom Start End Description
chr13 111972967 111972974 CAGE_peak_2_at_C13orf16_5end
chr13 111972980 111972994 CAGE_peak_1_at_C13orf16_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I111209 111209288 111213304 0.96 [{'connected_gene': 'ARHGEF7', 'score': 12.94}, {'connected_gene': 'TEX29', 'score': 10.57}, {'connected_gene': 'ANKRD10', 'score': 10.08}, {'connected_gene': 'SALL4P4', 'score': 0.31}, {'connected_gene': 'GC13P111283', 'score': 0.19}]
chr13 GH13I111238 111238933 111243454 0.38 [{'connected_gene': 'ARHGEF7', 'score': 25.94}, {'connected_gene': 'TEX29', 'score': 16.4}, {'connected_gene': 'ARHGEF7-AS2', 'score': 11.04}, {'connected_gene': 'ANKRD10', 'score': 10.04}, {'connected_gene': 'GC13P111283', 'score': 0.26}, {'connected_gene': 'SALL4P4', 'score': 0.22}]
chr13 GH13I111214 111214282 111217000 1.15 [{'connected_gene': 'ARHGEF7', 'score': 14.36}, {'connected_gene': 'TEX29', 'score': 5.1}, {'connected_gene': 'SALL4P4', 'score': 0.29}, {'connected_gene': 'GC13P111283', 'score': 0.2}]
chr13 GH13I111217 111217111 111220384 0.99 [{'connected_gene': 'ARHGEF7', 'score': 14.55}, {'connected_gene': 'TEX29', 'score': 5.5}, {'connected_gene': 'SALL4P4', 'score': 0.28}, {'connected_gene': 'GC13P111283', 'score': 0.2}]
chr13 GH13I111278 111278466 111283388 0.58 [{'connected_gene': 'ARHGEF7', 'score': 27.26}, {'connected_gene': 'TEX29', 'score': 16.4}, {'connected_gene': 'GC13P111283', 'score': 0.77}, {'connected_gene': 'SALL4P4', 'score': 0.15}]
chr13 GH13I111336 111336760 111338264 0.46 [{'connected_gene': 'ARHGEF7', 'score': 7.91}, {'connected_gene': 'LOC105370365', 'score': 0.37}, {'connected_gene': 'TEX29', 'score': 0.34}, {'connected_gene': 'GC13M111529', 'score': 0.08}]
chr13 GH13I110943 110943699 110945043 1.17 [{'connected_gene': 'ANKRD10', 'score': 23.24}, {'connected_gene': 'TEX29', 'score': 4.96}, {'connected_gene': 'ARHGEF7', 'score': 4.79}, {'connected_gene': 'PARP1P1', 'score': 0.44}, {'connected_gene': 'LINC00431', 'score': 0.34}]
chr13 GH13I111324 111324068 111324388 0.26 [{'connected_gene': 'TEX29', 'score': 6.97}, {'connected_gene': 'ARHGEF7', 'score': 5.71}, {'connected_gene': 'LOC105370365', 'score': 0.77}, {'connected_gene': 'GC13M111529', 'score': 0.08}]
chr13 GH13I111267 111267295 111268828 0.2 [{'connected_gene': 'TEX29', 'score': 11.08}, {'connected_gene': 'ARHGEF7', 'score': 9.59}, {'connected_gene': 'GC13P111283', 'score': 0.37}, {'connected_gene': 'SALL4P4', 'score': 0.17}]
chr13 GH13I111359 111359354 111359503 0.43 [{'connected_gene': 'TEX29', 'score': 11.49}, {'connected_gene': 'LOC105370365', 'score': 0.28}, {'connected_gene': 'GC13M111529', 'score': 0.1}]
chr13 GH13I111384 111384914 111385694 0.98 [{'connected_gene': 'TEX29', 'score': 5.52}, {'connected_gene': 'LOC105370365', 'score': 0.21}, {'connected_gene': 'GC13M111529', 'score': 0.1}]
chr13 GH13I111320 111320593 111320652 0.73 [{'connected_gene': 'TEX29', 'score': 550.77}, {'connected_gene': 'PIR44781', 'score': 550.77}, {'connected_gene': 'LOC105370365', 'score': 550.77}, {'connected_gene': 'GC13M111529', 'score': 0.08}]
chr13 GH13I111268 111268932 111268957 0.2 [{'connected_gene': 'TEX29', 'score': 11.08}, {'connected_gene': 'GC13P111283', 'score': 0.39}, {'connected_gene': 'SALL4P4', 'score': 0.17}, {'connected_gene': 'ARHGEF7', 'score': 0.1}]
chr13 GH13I110971 110971634 110971753 0.57 [{'connected_gene': 'LOC105370364', 'score': 550.77}, {'connected_gene': 'TEX29', 'score': 48.08}, {'connected_gene': 'ING1', 'score': 14.53}, {'connected_gene': 'LINC00431', 'score': 0.44}, {'connected_gene': 'GC13P110984', 'score': 0.39}]