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
ENST00000281321 [[147560044, 147560580], [147561018, 147563626]] [[147560292, 147560580], [147561018, 147561960]]
NM_004575 [[147560044, 147560580], [147561018, 147563623]] [[147560292, 147560580], [147561018, 147561960]]
Promoter
Chrom Start End Description
chr4 147560042 147560046 CAGE_peak_1_at_POU4F2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I146974 146974776 146975723 0.62 [{'connected_gene': 'TTC29', 'score': 21.86}, {'connected_gene': 'POU4F2', 'score': 9.87}, {'connected_gene': 'GC04M146965', 'score': 0.44}, {'connected_gene': 'ENSG00000248346', 'score': 0.37}, {'connected_gene': 'ENSG00000260090', 'score': 0.29}, {'connected_gene': 'LOC105377473', 'score': 0.26}]
chr4 GH04I146789 146789685 146790072 0.22 [{'connected_gene': 'TTC29', 'score': 7.34}, {'connected_gene': 'LOC105377474', 'score': 0.26}, {'connected_gene': 'POU4F2', 'score': 0.1}]
chr4 GH04I146636 146636516 146636768 0.66 [{'connected_gene': 'POU4F2', 'score': 0.77}, {'connected_gene': 'RNU1-44P', 'score': 0.22}]
chr4 GH04I146638 146638844 146638903 0.87 [{'connected_gene': 'POU4F2', 'score': 550.77}, {'connected_gene': 'RNU1-44P', 'score': 0.22}]
chr4 GH04I146880 146880679 146880936 0.4 [{'connected_gene': 'POU4F2', 'score': 9.66}, {'connected_gene': 'LOC105377474', 'score': 0.25}, {'connected_gene': 'ENSG00000248764', 'score': 0.23}, {'connected_gene': 'TTC29', 'score': 0.2}]
chr4 GH04I146653 146653174 146653402 0.51 [{'connected_gene': 'POU4F2', 'score': 0.39}, {'connected_gene': 'LOC105377474', 'score': 0.1}]
chr4 GH04I146586 146586000 146586201 0.49 [{'connected_gene': 'RNU1-44P', 'score': 0.44}, {'connected_gene': 'POU4F2', 'score': 0.23}]
chr4 GH04I146829 146829115 146829473 0.4 [{'connected_gene': 'LOC105377474', 'score': 0.77}, {'connected_gene': 'TTC29', 'score': 0.13}, {'connected_gene': 'POU4F2', 'score': 0.08}]
chr4 GH04I146787 146787910 146788128 0.4 [{'connected_gene': 'LOC105377474', 'score': 0.25}, {'connected_gene': 'POU4F2', 'score': 0.11}, {'connected_gene': 'TTC29', 'score': 0.1}]
chr4 GH04I146768 146768653 146769033 0.4 [{'connected_gene': 'LOC105377474', 'score': 0.21}, {'connected_gene': 'POU4F2', 'score': 0.13}, {'connected_gene': 'TTC29', 'score': 0.1}]
chr4 GH04I146788 146787685 146787894 0.4 [{'connected_gene': 'LOC105377474', 'score': 0.25}, {'connected_gene': 'POU4F2', 'score': 0.11}, {'connected_gene': 'TTC29', 'score': 0.1}]
chr4 GH04I146333 146333401 146334378 0.9 [{'connected_gene': 'ENSG00000251010', 'score': 11.14}, {'connected_gene': 'POU4F2', 'score': 10.08}, {'connected_gene': 'LOC105377472', 'score': 0.28}, {'connected_gene': 'GC04P146380', 'score': 0.26}, {'connected_gene': 'SLC10A7', 'score': 0.09}]
chr4 GH04I146328 146328220 146331183 0.91 [{'connected_gene': 'ENSG00000251010', 'score': 11.15}, {'connected_gene': 'POU4F2', 'score': 9.82}, {'connected_gene': 'LOC105377472', 'score': 0.29}, {'connected_gene': 'GC04P146380', 'score': 0.25}, {'connected_gene': 'SLC10A7', 'score': 0.08}]
chr4 GH04I146269 146269388 146269629 0.73 [{'connected_gene': 'ENSG00000251010', 'score': 10.92}, {'connected_gene': 'REELD1', 'score': 9.85}, {'connected_gene': 'POU4F2', 'score': 9.32}, {'connected_gene': 'ZNF827', 'score': 1.53}, {'connected_gene': 'LSM6', 'score': 1.49}, {'connected_gene': 'LOC105377472', 'score': 0.31}, {'connected_gene': 'SLC10A7', 'score': 0.07}]