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
ENST00000415210 [[224363457, 224363649], [224377278, 224378021], [224380033, 224380055]] [[224363630, 224363649], [224377278, 224378021], [224380033, 224380055]]
ENST00000323699 [[224370872, 224371120], [224377278, 224378021], [224380033, 224381143]] [[224371038, 224371120], [224377278, 224378021], [224380033, 224380180]]
ENST00000391877 [[224370967, 224371120], [224377278, 224378021], [224380033, 224380220], [224380597, 224380859]] [[224371038, 224371120], [224377278, 224378021], [224380033, 224380180]]
ENST00000465848 [[224371376, 224371533], [224377278, 224377754]] None
ENST00000498813 [[224377837, 224378021], [224378793, 224378858], [224380033, 224380142]] None
NM_003676 [[224370909, 224371120], [224377278, 224378021], [224380033, 224381143]] [[224371038, 224371120], [224377278, 224378021], [224380033, 224380180]]
NM_001321541 [[224370909, 224371120], [224377278, 224378021], [224378793, 224378858], [224380033, 224381143]] [[224371038, 224371120], [224377278, 224378021], [224378793, 224378835]]
NM_001321542 [[224371212, 224371533], [224377278, 224378021], [224380033, 224381143]] [[224377304, 224378021], [224380033, 224380180]]
Promoter
Chrom Start End Description
chr1 224370589 224370611 CAGE_peak_3_at_DEGS1_5end
chr1 224370681 224370692 CAGE_peak_10_at_DEGS1_5end
chr1 224370900 224370951 CAGE_peak_1_at_DEGS1_5end
chr1 224371372 224371396 CAGE_peak_2_at_DEGS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I224181 224181467 224185508 2.27 [{'connected_gene': 'DEGS1', 'score': 550.44}, {'connected_gene': 'LOC101927143', 'score': 24.46}, {'connected_gene': 'WDR26', 'score': 13.97}, {'connected_gene': 'CICP5', 'score': 13.68}, {'connected_gene': 'ENSG00000201898', 'score': 0.77}, {'connected_gene': 'PIR33615', 'score': 0.44}, {'connected_gene': 'GC01P224191', 'score': 0.44}]
chr1 GH01I224389 224389542 224389833 0.4 [{'connected_gene': 'DEGS1', 'score': 4.89}, {'connected_gene': 'MIR4742', 'score': 0.44}, {'connected_gene': 'GC01M224388', 'score': 0.44}, {'connected_gene': 'GC01P224379', 'score': 0.39}, {'connected_gene': 'WDR26', 'score': 0.25}]
chr1 GH01I224186 224186279 224186428 0.91 [{'connected_gene': 'CICP5', 'score': 18.26}, {'connected_gene': 'NVL', 'score': 17.38}, {'connected_gene': 'LOC100287497', 'score': 10.08}, {'connected_gene': 'PIR33615', 'score': 0.77}, {'connected_gene': 'GC01P224191', 'score': 0.77}, {'connected_gene': 'ENSG00000201898', 'score': 0.44}, {'connected_gene': 'DEGS1', 'score': 0.39}]
chr1 GH01I224175 224175600 224176001 0.99 [{'connected_gene': 'LOC724084', 'score': 550.77}, {'connected_gene': 'GC01M224176', 'score': 550.77}, {'connected_gene': 'DEGS1', 'score': 550.77}, {'connected_gene': 'LOC101927143', 'score': 21.08}]
chr1 GH01I224263 224263888 224270135 0.91 [{'connected_gene': 'NVL', 'score': 30.98}, {'connected_gene': 'CICP5', 'score': 22.09}, {'connected_gene': 'CNIH4', 'score': 18.56}, {'connected_gene': 'LOC101927164', 'score': 11.29}, {'connected_gene': 'LOC101927143', 'score': 11.27}, {'connected_gene': 'DEGS1', 'score': 5.27}, {'connected_gene': 'MIR320B2', 'score': 0.44}, {'connected_gene': 'ENSG00000229742', 'score': 0.29}, {'connected_gene': 'GC01M224258', 'score': 0.23}]
chr1 GH01I224272 224272951 224279073 0.89 [{'connected_gene': 'NVL', 'score': 17.5}, {'connected_gene': 'LOC101927164', 'score': 10.84}, {'connected_gene': 'LOC101927143', 'score': 10.82}, {'connected_gene': 'CNIH4', 'score': 10.57}, {'connected_gene': 'DEGS1', 'score': 6.11}, {'connected_gene': 'MIR320B2', 'score': 0.37}, {'connected_gene': 'ENSG00000229742', 'score': 0.34}, {'connected_gene': 'GC01M224258', 'score': 0.26}]
chr1 GH01I224456 224456191 224460259 1.24 [{'connected_gene': 'CNIH4', 'score': 46.56}, {'connected_gene': 'NVL', 'score': 27.71}, {'connected_gene': 'CICP5', 'score': 18.97}, {'connected_gene': 'CNIH3', 'score': 12.91}, {'connected_gene': 'WDR26', 'score': 12.91}, {'connected_gene': 'LOC100287497', 'score': 11.5}, {'connected_gene': 'DEGS1', 'score': 4.87}, {'connected_gene': 'GC01M224438', 'score': 0.37}, {'connected_gene': 'GC01P224480', 'score': 0.34}]
chr1 GH01I224356 224356219 224358596 2.34 [{'connected_gene': 'CNIH4', 'score': 587.17}, {'connected_gene': 'NVL', 'score': 16.51}, {'connected_gene': 'CNIH3', 'score': 10.94}, {'connected_gene': 'WDR26', 'score': 10.94}, {'connected_gene': 'LOC101927164', 'score': 10.21}, {'connected_gene': 'LOC101927143', 'score': 10.2}, {'connected_gene': 'CAPN2', 'score': 9.22}, {'connected_gene': 'DEGS1', 'score': 4.41}, {'connected_gene': 'FBXO28', 'score': 1.25}, {'connected_gene': 'GC01P224379', 'score': 0.37}]
chr1 GH01I224217 224217801 224218800 0.57 [{'connected_gene': 'LOC101927164', 'score': 550.77}, {'connected_gene': 'DEGS1', 'score': 5.21}, {'connected_gene': 'LOC101927143', 'score': 0.44}]
chr1 GH01I224240 224240479 224240628 0.2 [{'connected_gene': 'LOC101927164', 'score': 11.91}, {'connected_gene': 'LOC101927143', 'score': 11.88}, {'connected_gene': 'NVL', 'score': 10.56}, {'connected_gene': 'DEGS1', 'score': 4.99}, {'connected_gene': 'MIR320B2', 'score': 0.37}]
chr1 GH01I224244 224244360 224246625 0.88 [{'connected_gene': 'LOC101927164', 'score': 12.12}, {'connected_gene': 'LOC101927143', 'score': 12.1}, {'connected_gene': 'NVL', 'score': 10.56}, {'connected_gene': 'DEGS1', 'score': 5.62}, {'connected_gene': 'MIR320B2', 'score': 0.39}]
chr1 GH01I224218 224218812 224220347 0.69 [{'connected_gene': 'LOC101927164', 'score': 550.77}, {'connected_gene': 'LOC101927143', 'score': 21.28}, {'connected_gene': 'MIR320B2', 'score': 12.07}, {'connected_gene': 'NVL', 'score': 10.56}, {'connected_gene': 'CNIH4', 'score': 10.0}, {'connected_gene': 'CNIH3', 'score': 9.66}, {'connected_gene': 'WDR26', 'score': 9.66}, {'connected_gene': 'DEGS1', 'score': 5.29}]
chr1 GH01I224052 224052419 224054213 0.71 [{'connected_gene': 'LOC101927143', 'score': 5.56}, {'connected_gene': 'DEGS1', 'score': 5.25}, {'connected_gene': 'TP53BP2', 'score': 4.28}, {'connected_gene': 'LOC105373061', 'score': 0.44}, {'connected_gene': 'ENSG00000229930', 'score': 0.37}]
chr1 GH01I224195 224195763 224197654 1 [{'connected_gene': 'LOC101927143', 'score': 26.16}, {'connected_gene': 'DEGS1', 'score': 11.45}, {'connected_gene': 'NVL', 'score': 10.8}, {'connected_gene': 'CNIH4', 'score': 10.14}, {'connected_gene': 'PIR34911', 'score': 0.44}]
chr1 GH01I224064 224064828 224066076 0.65 [{'connected_gene': 'LOC101927143', 'score': 19.3}, {'connected_gene': 'DEGS1', 'score': 6.88}, {'connected_gene': 'LOC105373061', 'score': 0.44}, {'connected_gene': 'GC01M224096', 'score': 0.28}]
chr1 GH01I224050 224050801 224051200 0.89 [{'connected_gene': 'LOC101927143', 'score': 5.53}, {'connected_gene': 'DEGS1', 'score': 5.1}, {'connected_gene': 'LOC105373061', 'score': 0.44}, {'connected_gene': 'ENSG00000229930', 'score': 0.37}]
chr1 GH01I224212 224212225 224214706 1.2 [{'connected_gene': 'LOC101927143', 'score': 596.88}, {'connected_gene': 'DEGS1', 'score': 7.39}, {'connected_gene': 'LOC101927164', 'score': 0.44}]
chr1 GH01I224198 224198143 224199081 0.2 [{'connected_gene': 'LOC101927143', 'score': 25.54}, {'connected_gene': 'DEGS1', 'score': 11.76}, {'connected_gene': 'PIR34911', 'score': 0.44}]
chr1 GH01I224201 224201009 224202467 0.54 [{'connected_gene': 'LOC101927143', 'score': 26.15}, {'connected_gene': 'DEGS1', 'score': 8.43}, {'connected_gene': 'PIR34911', 'score': 0.39}]
chr1 GH01I224210 224210840 224212000 0.96 [{'connected_gene': 'LOC101927143', 'score': 599.37}, {'connected_gene': 'NVL', 'score': 21.4}, {'connected_gene': 'CICP5', 'score': 21.33}, {'connected_gene': 'DEGS1', 'score': 4.6}, {'connected_gene': 'PIR34911', 'score': 0.34}]
chr1 GH01I224251 224251103 224253383 0.74 [{'connected_gene': 'LOC101927143', 'score': 25.71}, {'connected_gene': 'NVL', 'score': 15.11}, {'connected_gene': 'LOC101927164', 'score': 11.48}, {'connected_gene': 'CNIH4', 'score': 8.94}, {'connected_gene': 'CNIH3', 'score': 4.97}, {'connected_gene': 'DEGS1', 'score': 4.4}, {'connected_gene': 'MIR320B2', 'score': 0.77}]
chr1 GH01I224202 224202884 224206739 1.39 [{'connected_gene': 'LOC101927143', 'score': 36.51}, {'connected_gene': 'FBXO28', 'score': 11.84}, {'connected_gene': 'LOC100287497', 'score': 10.52}, {'connected_gene': 'CICP5', 'score': 10.27}, {'connected_gene': 'CNIH4', 'score': 9.96}, {'connected_gene': 'CAPN2', 'score': 9.71}, {'connected_gene': 'DEGS1', 'score': 6.97}, {'connected_gene': 'PIR34911', 'score': 0.39}]
chr1 GH01I224168 224168402 224171316 1.31 [{'connected_gene': 'LOC101927143', 'score': 38.7}, {'connected_gene': 'LOC101927164', 'score': 12.0}, {'connected_gene': 'NVL', 'score': 10.8}, {'connected_gene': 'CNIH4', 'score': 10.58}, {'connected_gene': 'TP53BP2', 'score': 8.67}, {'connected_gene': 'DEGS1', 'score': 6.07}, {'connected_gene': 'FBXO28', 'score': 1.43}, {'connected_gene': 'WDR26', 'score': 1.38}, {'connected_gene': 'GC01M224176', 'score': 0.44}]
chr1 GH01I224163 224163524 224165519 0.79 [{'connected_gene': 'LOC101927143', 'score': 47.01}, {'connected_gene': 'LOC101927164', 'score': 11.97}, {'connected_gene': 'MIR320B2', 'score': 11.33}, {'connected_gene': 'NVL', 'score': 11.01}, {'connected_gene': 'CNIH4', 'score': 10.58}, {'connected_gene': 'DEGS1', 'score': 5.81}, {'connected_gene': 'GC01M224176', 'score': 0.39}, {'connected_gene': 'FBXO28', 'score': 0.23}]
chr1 GH01I224237 224236139 224236348 0.49 [{'connected_gene': 'LOC101927143', 'score': 12.46}, {'connected_gene': 'MIR320B2', 'score': 11.71}, {'connected_gene': 'DEGS1', 'score': 5.7}, {'connected_gene': 'LOC101927164', 'score': 0.37}, {'connected_gene': 'NVL', 'score': 0.16}]
chr1 GH01I224223 224223319 224224653 0.89 [{'connected_gene': 'LOC101927143', 'score': 27.66}, {'connected_gene': 'MIR320B2', 'score': 12.08}, {'connected_gene': 'NVL', 'score': 10.57}, {'connected_gene': 'CNIH4', 'score': 10.0}, {'connected_gene': 'CNIH3', 'score': 9.66}, {'connected_gene': 'WDR26', 'score': 9.66}, {'connected_gene': 'DEGS1', 'score': 5.38}, {'connected_gene': 'LOC101927164', 'score': 0.77}]