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
ENST00000373337 [[35447135, 35447720], [35449367, 35449548], [35450798, 35450954]] [[35447544, 35447720], [35449367, 35449548], [35450798, 35450906]]
NM_001195156 [[35447126, 35447720], [35449367, 35449548], [35450798, 35450948]] [[35447544, 35447720], [35449367, 35449548], [35450798, 35450906]]
Promoter
Chrom Start End Description
chr1 35450897 35450951 CAGE_peak_1_at_ZMYM6NB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I035267 35267565 35270324 2.03 [{'connected_gene': 'ZMYM4', 'score': 550.77}, {'connected_gene': 'SFPQ', 'score': 22.6}, {'connected_gene': 'ENSG00000201542', 'score': 11.22}, {'connected_gene': 'ENSG00000201868', 'score': 11.13}, {'connected_gene': 'ZMYM6', 'score': 10.43}, {'connected_gene': 'LOC653160', 'score': 9.98}, {'connected_gene': 'TMEM35B', 'score': 9.98}, {'connected_gene': 'KIAA0319L', 'score': 4.09}, {'connected_gene': 'RN7SL503P', 'score': 0.34}]
chr1 GH01I035285 35285920 35286763 0.52 [{'connected_gene': 'KIAA0319L', 'score': 14.1}, {'connected_gene': 'ENSG00000201542', 'score': 12.28}, {'connected_gene': 'ENSG00000201868', 'score': 11.47}, {'connected_gene': 'SFPQ', 'score': 11.47}, {'connected_gene': 'ZMYM6', 'score': 10.38}, {'connected_gene': 'LOC653160', 'score': 9.8}, {'connected_gene': 'TMEM35B', 'score': 9.8}, {'connected_gene': 'NCDN', 'score': 9.55}, {'connected_gene': 'ENSG00000232335', 'score': 8.96}, {'connected_gene': 'CLSPN', 'score': 8.96}, {'connected_gene': 'RN7SL503P', 'score': 0.44}, {'connected_gene': 'ZMYM4', 'score': 0.37}]
chr1 GH01I035287 35287168 35289787 0.72 [{'connected_gene': 'KIAA0319L', 'score': 18.94}, {'connected_gene': 'ENSG00000201542', 'score': 12.28}, {'connected_gene': 'ENSG00000201868', 'score': 11.43}, {'connected_gene': 'SFPQ', 'score': 11.43}, {'connected_gene': 'LOC653160', 'score': 9.8}, {'connected_gene': 'TMEM35B', 'score': 9.8}, {'connected_gene': 'NCDN', 'score': 9.55}, {'connected_gene': 'RN7SL503P', 'score': 0.77}, {'connected_gene': 'ZMYM4', 'score': 0.37}]
chr1 GH01I035078 35078692 35081127 2.02 [{'connected_gene': 'ZMYM1', 'score': 557.88}, {'connected_gene': 'ZMYM6', 'score': 11.96}, {'connected_gene': 'TMEM35B', 'score': 10.92}, {'connected_gene': 'LOC653160', 'score': 10.92}, {'connected_gene': 'LOC105378645', 'score': 4.21}, {'connected_gene': 'GC01P035069', 'score': 0.39}, {'connected_gene': 'EFCAB14P1', 'score': 0.26}]
chr1 GH01I035162 35162015 35162883 0.92 [{'connected_gene': 'ZMYM1', 'score': 17.31}, {'connected_gene': 'ENSG00000201868', 'score': 11.6}, {'connected_gene': 'SFPQ', 'score': 11.6}, {'connected_gene': 'ZMYM6', 'score': 11.02}, {'connected_gene': 'ENSG00000201542', 'score': 10.99}, {'connected_gene': 'LOC653160', 'score': 10.36}, {'connected_gene': 'TMEM35B', 'score': 10.36}, {'connected_gene': 'LOC105378644', 'score': 0.37}]
chr1 GH01I034852 34852300 34853391 1.19 [{'connected_gene': 'ZMYM1', 'score': 18.32}, {'connected_gene': 'ENSG00000230163', 'score': 17.36}, {'connected_gene': 'SFPQ', 'score': 17.23}, {'connected_gene': 'LOC653160', 'score': 15.91}, {'connected_gene': 'ZMYM6', 'score': 14.47}, {'connected_gene': 'RPL5P4', 'score': 13.35}, {'connected_gene': 'TMEM35B', 'score': 11.0}, {'connected_gene': 'SMIM12', 'score': 6.94}, {'connected_gene': 'GC01P034859', 'score': 0.44}]
chr1 GH01I035800 35800001 35801200 1.09 [{'connected_gene': 'ZMYM1', 'score': 19.95}, {'connected_gene': 'EVA1B', 'score': 13.92}, {'connected_gene': 'RPL5P4', 'score': 12.55}, {'connected_gene': 'ENSG00000230163', 'score': 12.54}, {'connected_gene': 'TMEM35B', 'score': 11.99}, {'connected_gene': 'LOC653160', 'score': 11.79}, {'connected_gene': 'ZMYM6', 'score': 11.42}, {'connected_gene': 'THRAP3', 'score': 11.16}, {'connected_gene': 'SFPQ', 'score': 11.01}, {'connected_gene': 'COL8A2', 'score': 10.63}, {'connected_gene': 'AGO3', 'score': 6.39}, {'connected_gene': 'AGO4', 'score': 0.44}, {'connected_gene': 'CLSPN', 'score': 0.29}]
chr1 GH01I035189 35189220 35194198 2.29 [{'connected_gene': 'SFPQ', 'score': 625.0}, {'connected_gene': 'ZMYM1', 'score': 80.33}, {'connected_gene': 'LOC653160', 'score': 60.21}, {'connected_gene': 'ENSG00000230163', 'score': 50.81}, {'connected_gene': 'ZMYM6', 'score': 42.68}, {'connected_gene': 'LOC105378647', 'score': 38.82}, {'connected_gene': 'RPL5P4', 'score': 23.47}, {'connected_gene': 'AGO4', 'score': 21.52}, {'connected_gene': 'TMEM35B', 'score': 19.68}, {'connected_gene': 'COL8A2', 'score': 11.06}, {'connected_gene': 'TRAPPC3', 'score': 10.49}, {'connected_gene': 'AGO3', 'score': 9.91}, {'connected_gene': 'KIAA0319L', 'score': 9.21}, {'connected_gene': 'LOC105378644', 'score': 0.26}]
chr1 GH01I034865 34865188 34867851 1.37 [{'connected_gene': 'LOC653160', 'score': 25.56}, {'connected_gene': 'TMEM35B', 'score': 24.55}, {'connected_gene': 'ZMYM1', 'score': 17.74}, {'connected_gene': 'ENSG00000230163', 'score': 14.76}, {'connected_gene': 'ZMYM6', 'score': 12.65}, {'connected_gene': 'SFPQ', 'score': 12.24}, {'connected_gene': 'RPL5P4', 'score': 11.54}, {'connected_gene': 'GJB4', 'score': 10.52}, {'connected_gene': 'TFAP2E', 'score': 5.0}, {'connected_gene': 'SMIM12', 'score': 0.44}, {'connected_gene': 'GC01P034879', 'score': 0.39}, {'connected_gene': 'DLGAP3', 'score': 0.21}]
chr1 GH01I035178 35178437 35181068 0.84 [{'connected_gene': 'LOC653160', 'score': 21.95}, {'connected_gene': 'TMEM35B', 'score': 21.2}, {'connected_gene': 'ZMYM1', 'score': 14.59}, {'connected_gene': 'AGO4', 'score': 12.75}, {'connected_gene': 'SFPQ', 'score': 12.33}, {'connected_gene': 'RPL5P4', 'score': 11.92}, {'connected_gene': 'ENSG00000230163', 'score': 11.45}, {'connected_gene': 'COL8A2', 'score': 11.06}, {'connected_gene': 'ZMYM6', 'score': 11.01}, {'connected_gene': 'ENSG00000201542', 'score': 10.88}, {'connected_gene': 'LOC105378647', 'score': 10.31}, {'connected_gene': 'KIAA0319L', 'score': 8.55}, {'connected_gene': 'LOC105378644', 'score': 0.29}]
chr1 GH01I035717 35717554 35719600 2.28 [{'connected_gene': 'C1orf216', 'score': 563.12}, {'connected_gene': 'ZMYM1', 'score': 28.33}, {'connected_gene': 'ENSG00000230163', 'score': 27.8}, {'connected_gene': 'LOC653160', 'score': 27.2}, {'connected_gene': 'SFPQ', 'score': 26.17}, {'connected_gene': 'ZMYM6', 'score': 23.0}, {'connected_gene': 'LOC105378647', 'score': 20.48}, {'connected_gene': 'EVA1B', 'score': 19.45}, {'connected_gene': 'RPL5P4', 'score': 13.36}, {'connected_gene': 'THRAP3', 'score': 12.27}, {'connected_gene': 'TMEM35B', 'score': 10.91}, {'connected_gene': 'PIR49848', 'score': 0.77}]
chr1 GH01I034983 34983702 34986199 1.98 [{'connected_gene': 'TMEM35B', 'score': 550.77}, {'connected_gene': 'LOC653160', 'score': 550.77}, {'connected_gene': 'ZMYM6', 'score': 21.56}, {'connected_gene': 'SFPQ', 'score': 11.08}, {'connected_gene': 'ENSG00000271741', 'score': 0.25}, {'connected_gene': 'DLGAP3', 'score': 0.22}]
chr1 GH01I035046 35046713 35048229 0.74 [{'connected_gene': 'TMEM35B', 'score': 11.17}, {'connected_gene': 'LOC653160', 'score': 11.17}, {'connected_gene': 'RPL12P45', 'score': 0.44}, {'connected_gene': 'ZMYM6', 'score': 0.37}]
chr1 GH01I035856 35856431 35858407 0.82 [{'connected_gene': 'GC01P035856', 'score': 550.77}, {'connected_gene': 'SFPQ', 'score': 132.51}, {'connected_gene': 'ZMYM1', 'score': 131.06}, {'connected_gene': 'ZMYM6', 'score': 106.49}, {'connected_gene': 'ZMYM4', 'score': 101.3}, {'connected_gene': 'LOC653160', 'score': 80.87}, {'connected_gene': 'AGO3', 'score': 79.96}, {'connected_gene': 'RPL5P4', 'score': 50.87}, {'connected_gene': 'THRAP3', 'score': 41.78}, {'connected_gene': 'COL8A2', 'score': 38.42}, {'connected_gene': 'EVA1B', 'score': 30.4}, {'connected_gene': 'LOC105378647', 'score': 30.13}, {'connected_gene': 'TRAPPC3', 'score': 19.14}, {'connected_gene': 'AGO4', 'score': 13.52}, {'connected_gene': 'TMEM35B', 'score': 9.87}, {'connected_gene': 'AGO1', 'score': 0.39}]