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
ENST00000369583 [[112257595, 112258258], [112262478, 112262627], [112266692, 112266912], [112269777, 112271302]] [[112257879, 112258258], [112262478, 112262627], [112266692, 112266912], [112269777, 112270184]]
ENST00000468749 [[112262504, 112262627], [112263190, 112263248], [112266692, 112266912], [112269777, 112270195]] None
NM_004419 [[112257624, 112258258], [112262478, 112262627], [112266692, 112266912], [112269777, 112271302]] [[112257879, 112258258], [112262478, 112262627], [112266692, 112266912], [112269777, 112270184]]
Promoter
Chrom Start End Description
chr10 112257172 112257206 CAGE_peak_3_at_DUSP5_5end
chr10 112257619 112257634 CAGE_peak_2_at_DUSP5_5end
chr10 112257656 112257671 CAGE_peak_1_at_DUSP5_5end
chr10 112258159 112258175 CAGE_peak_7_at_DUSP5_5end
chr10 112262041 112262049 CAGE_peak_9_at_DUSP5_5end
chr10 112262478 112262490 CAGE_peak_5_at_DUSP5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I110555 110555564 110557664 0.63 [{'connected_gene': 'BBIP1', 'score': 11.5}, {'connected_gene': 'DUSP5', 'score': 5.35}, {'connected_gene': 'RPL7P35', 'score': 0.44}, {'connected_gene': 'LOC105378483', 'score': 0.39}]
chr10 GH10I110507 110507897 110509864 0.76 [{'connected_gene': 'SMC3', 'score': 13.31}, {'connected_gene': 'SMNDC1', 'score': 13.0}, {'connected_gene': 'ENSG00000270589', 'score': 11.04}, {'connected_gene': 'XPNPEP1', 'score': 10.33}, {'connected_gene': 'DUSP5', 'score': 0.39}, {'connected_gene': 'GC10P110525', 'score': 0.37}]
chr10 GH10I110448 110448600 110448669 0.2 [{'connected_gene': 'HMGB3P5', 'score': 550.77}, {'connected_gene': 'DUSP5', 'score': 11.27}, {'connected_gene': 'LOC105378482', 'score': 0.39}, {'connected_gene': 'ENSG00000273143', 'score': 0.25}, {'connected_gene': 'GC10P110318', 'score': 0.12}]
chr10 GH10I110280 110279201 110279762 1.19 [{'connected_gene': 'MXI1', 'score': 16.93}, {'connected_gene': 'ENSG00000228417', 'score': 11.67}, {'connected_gene': 'DUSP5', 'score': 10.3}, {'connected_gene': 'ENSG00000214067', 'score': 0.34}, {'connected_gene': 'SMNDC1', 'score': 0.31}]
chr10 GH10I110279 110279767 110280695 0.62 [{'connected_gene': 'MXI1', 'score': 21.67}, {'connected_gene': 'ENSG00000228417', 'score': 11.67}, {'connected_gene': 'DUSP5', 'score': 10.3}, {'connected_gene': 'ENSG00000214067', 'score': 0.34}, {'connected_gene': 'SMNDC1', 'score': 0.34}]
chr10 GH10I110857 110857171 110875168 2.84 [{'connected_gene': 'PDCD4', 'score': 560.9}, {'connected_gene': 'SHOC2', 'score': 22.11}, {'connected_gene': 'SMC3', 'score': 10.6}, {'connected_gene': 'BBIP1', 'score': 8.39}, {'connected_gene': 'ADRA2A', 'score': 5.97}, {'connected_gene': 'ENSG00000270589', 'score': 4.6}, {'connected_gene': 'DUSP5', 'score': 1.95}, {'connected_gene': 'ENSG00000232470', 'score': 0.77}, {'connected_gene': 'PDCD4-AS1', 'score': 0.44}, {'connected_gene': 'RNA5SP327', 'score': 0.14}, {'connected_gene': 'GC10P110732', 'score': 0.12}]
chr10 GH10I110424 110424811 110427736 1.56 [{'connected_gene': 'DUSP5', 'score': 6.76}, {'connected_gene': 'BBIP1', 'score': 3.08}, {'connected_gene': 'SHOC2', 'score': 2.62}, {'connected_gene': 'HMGB3P5', 'score': 0.34}, {'connected_gene': 'GC10P110318', 'score': 0.14}]
chr10 GH10I110423 110423602 110424400 1.25 [{'connected_gene': 'DUSP5', 'score': 3.77}, {'connected_gene': 'BBIP1', 'score': 2.53}, {'connected_gene': 'SHOC2', 'score': 1.85}, {'connected_gene': 'HMGB3P5', 'score': 0.31}, {'connected_gene': 'GC10P110318', 'score': 0.14}]
chr10 GH10I110511 110511083 110514112 1.55 [{'connected_gene': 'DUSP5', 'score': 6.57}, {'connected_gene': 'BBIP1', 'score': 3.11}, {'connected_gene': 'SHOC2', 'score': 2.87}, {'connected_gene': 'GC10P110525', 'score': 0.39}]
chr10 GH10I110495 110495540 110506279 2.57 [{'connected_gene': 'DUSP5', 'score': 556.51}, {'connected_gene': 'SMC3', 'score': 16.01}, {'connected_gene': 'XPNPEP1', 'score': 10.3}, {'connected_gene': 'MXI1', 'score': 3.58}, {'connected_gene': 'BBIP1', 'score': 2.72}, {'connected_gene': 'SHOC2', 'score': 2.35}, {'connected_gene': 'PDCD4', 'score': 1.67}, {'connected_gene': 'ENSG00000273143', 'score': 0.77}, {'connected_gene': 'GC10P110525', 'score': 0.34}]
chr10 GH10I110455 110455223 110461660 1.53 [{'connected_gene': 'DUSP5', 'score': 1.59}, {'connected_gene': 'SMC3', 'score': 1.45}, {'connected_gene': 'LOC105378482', 'score': 0.77}, {'connected_gene': 'HMGB3P5', 'score': 0.44}, {'connected_gene': 'ENSG00000273143', 'score': 0.28}]
chr10 GH10I110535 110535801 110536999 1.51 [{'connected_gene': 'DUSP5', 'score': 17.24}, {'connected_gene': 'SHOC2', 'score': 1.95}, {'connected_gene': 'BBIP1', 'score': 1.37}, {'connected_gene': 'GC10M110551', 'score': 0.39}, {'connected_gene': 'GC10P110525', 'score': 0.39}]
chr10 GH10I110428 110428135 110432346 0.94 [{'connected_gene': 'DUSP5', 'score': 11.41}, {'connected_gene': 'HMGB3P5', 'score': 10.83}, {'connected_gene': 'LOC105378482', 'score': 0.29}, {'connected_gene': 'ENSG00000273143', 'score': 0.2}, {'connected_gene': 'GC10P110318', 'score': 0.14}]
chr10 GH10I110443 110443402 110444234 0.46 [{'connected_gene': 'DUSP5', 'score': 10.97}, {'connected_gene': 'HMGB3P5', 'score': 0.44}, {'connected_gene': 'LOC105378482', 'score': 0.37}, {'connected_gene': 'ENSG00000273143', 'score': 0.23}, {'connected_gene': 'GC10P110318', 'score': 0.13}]
chr10 GH10I110433 110433384 110434313 0.43 [{'connected_gene': 'DUSP5', 'score': 11.16}, {'connected_gene': 'ENSG00000273143', 'score': 5.12}, {'connected_gene': 'HMGB3P5', 'score': 0.37}, {'connected_gene': 'LOC105378482', 'score': 0.31}, {'connected_gene': 'GC10P110318', 'score': 0.13}]
chr10 GH10I110446 110446625 110448416 1.17 [{'connected_gene': 'DUSP5', 'score': 11.26}, {'connected_gene': 'ENSG00000273143', 'score': 6.34}, {'connected_gene': 'HMGB3P5', 'score': 0.77}, {'connected_gene': 'LOC105378482', 'score': 0.39}, {'connected_gene': 'GC10P110318', 'score': 0.13}]
chr10 GH10I110441 110441321 110442412 1.21 [{'connected_gene': 'DUSP5', 'score': 11.15}, {'connected_gene': 'ENSG00000273143', 'score': 4.92}, {'connected_gene': 'HMGB3P5', 'score': 0.44}, {'connected_gene': 'LOC105378482', 'score': 0.37}, {'connected_gene': 'GC10P110318', 'score': 0.13}]
chr10 GH10I110340 110340947 110341091 0.22 [{'connected_gene': 'DUSP5', 'score': 14.22}, {'connected_gene': 'GC10P110318', 'score': 0.34}, {'connected_gene': 'HMGB3P5', 'score': 0.14}]
chr10 GH10I110394 110394726 110402853 1.65 [{'connected_gene': 'DUSP5', 'score': 3.86}, {'connected_gene': 'HMGB3P5', 'score': 0.23}, {'connected_gene': 'GC10P110318', 'score': 0.18}]
chr10 GH10I110335 110335650 110337132 1.12 [{'connected_gene': 'DUSP5', 'score': 10.7}, {'connected_gene': 'MXI1', 'score': 7.55}, {'connected_gene': 'GC10P110318', 'score': 0.37}, {'connected_gene': 'HMGB3P5', 'score': 0.14}]
chr10 GH10I110366 110366276 110368738 0.69 [{'connected_gene': 'DUSP5', 'score': 11.22}, {'connected_gene': 'ENSG00000273143', 'score': 4.91}, {'connected_gene': 'MXI1', 'score': 4.28}, {'connected_gene': 'GC10P110318', 'score': 0.25}, {'connected_gene': 'HMGB3P5', 'score': 0.18}]
chr10 GH10I110406 110406813 110416630 1.69 [{'connected_gene': 'DUSP5', 'score': 15.69}, {'connected_gene': 'SMNDC1', 'score': 10.81}, {'connected_gene': 'SMC3', 'score': 1.33}, {'connected_gene': 'HMGB3P5', 'score': 0.28}, {'connected_gene': 'GC10P110318', 'score': 0.16}]
chr10 GH10I110404 110404237 110406617 0.77 [{'connected_gene': 'DUSP5', 'score': 11.89}, {'connected_gene': 'SMNDC1', 'score': 10.81}, {'connected_gene': 'HMGB3P5', 'score': 0.25}, {'connected_gene': 'GC10P110318', 'score': 0.17}]
chr10 GH10I110362 110362163 110362312 0.31 [{'connected_gene': 'DUSP5', 'score': 11.37}, {'connected_gene': 'SMNDC1', 'score': 10.45}, {'connected_gene': 'GC10P110318', 'score': 0.26}, {'connected_gene': 'HMGB3P5', 'score': 0.17}]
chr10 GH10I110363 110363673 110365230 1.1 [{'connected_gene': 'DUSP5', 'score': 11.36}, {'connected_gene': 'SMNDC1', 'score': 10.45}, {'connected_gene': 'MXI1', 'score': 1.24}, {'connected_gene': 'GC10P110318', 'score': 0.25}, {'connected_gene': 'HMGB3P5', 'score': 0.17}]
chr10 GH10I110349 110349696 110351197 0.31 [{'connected_gene': 'DUSP5', 'score': 11.4}, {'connected_gene': 'SMNDC1', 'score': 11.27}, {'connected_gene': 'MXI1', 'score': 7.8}, {'connected_gene': 'GC10P110318', 'score': 0.29}, {'connected_gene': 'HMGB3P5', 'score': 0.15}]
chr10 GH10I110352 110352494 110359669 1.63 [{'connected_gene': 'DUSP5', 'score': 14.89}, {'connected_gene': 'SMNDC1', 'score': 11.15}, {'connected_gene': 'MXI1', 'score': 8.75}, {'connected_gene': 'GC10P110318', 'score': 0.28}, {'connected_gene': 'HMGB3P5', 'score': 0.16}]
chr10 GH10I110322 110322416 110328128 1.38 [{'connected_gene': 'DUSP5', 'score': 15.1}, {'connected_gene': 'SMNDC1', 'score': 11.31}, {'connected_gene': 'MXI1', 'score': 7.88}, {'connected_gene': 'GC10P110318', 'score': 0.44}, {'connected_gene': 'HMGB3P5', 'score': 0.13}]
chr10 GH10I110544 110544790 110545642 0.46 [{'connected_gene': 'DUSP5', 'score': 16.5}, {'connected_gene': 'SMNDC1', 'score': 11.31}, {'connected_gene': 'GC10M110551', 'score': 0.44}, {'connected_gene': 'GC10P110525', 'score': 0.34}]
chr10 GH10I110547 110547200 110547600 1.09 [{'connected_gene': 'DUSP5', 'score': 16.6}, {'connected_gene': 'SMNDC1', 'score': 11.86}, {'connected_gene': 'GC10M110551', 'score': 0.77}, {'connected_gene': 'GC10P110525', 'score': 0.34}]
chr10 GH10I110553 110553419 110554816 0.31 [{'connected_gene': 'DUSP5', 'score': 5.34}, {'connected_gene': 'RPL7P35', 'score': 0.77}, {'connected_gene': 'LOC105378483', 'score': 0.39}]
chr10 GH10I110506 110506463 110506612 0.51 [{'connected_gene': 'DUSP5', 'score': 0.44}, {'connected_gene': 'GC10P110525', 'score': 0.37}]
chr10 GH10I110510 110510103 110510105 0.4 [{'connected_gene': 'DUSP5', 'score': 0.39}, {'connected_gene': 'GC10P110525', 'score': 0.39}]
chr10 GH10I110509 110506703 110506852 0.51 [{'connected_gene': 'DUSP5', 'score': 0.44}, {'connected_gene': 'GC10P110525', 'score': 0.37}]
chr10 GH10I110508 110507163 110507312 0.51 [{'connected_gene': 'DUSP5', 'score': 0.44}, {'connected_gene': 'GC10P110525', 'score': 0.37}]
chr10 GH10I110275 110275283 110275432 0.74 [{'connected_gene': 'SMNDC1', 'score': 11.74}, {'connected_gene': 'MXI1', 'score': 11.68}, {'connected_gene': 'ENSG00000228417', 'score': 11.68}, {'connected_gene': 'DUSP5', 'score': 10.3}, {'connected_gene': 'ENSG00000214067', 'score': 0.37}]
chr10 GH10I110521 110521952 110523432 0.67 [{'connected_gene': 'GC10P110525', 'score': 0.77}, {'connected_gene': 'DUSP5', 'score': 0.34}]
chr10 GH10I110524 110524256 110525203 0.43 [{'connected_gene': 'GC10P110525', 'score': 550.77}, {'connected_gene': 'DUSP5', 'score': 0.31}]