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
ENST00000263187 [[76262566, 76262914], [76269415, 76269598], [76272665, 76272826], [76276381, 76276492], [76280705, 76280821], [76282057, 76282231], [76288093, 76288266], [76313893, 76313961], [76333198, 76333273], [76342620, 76342685], [76343833, 76344003], [76344676, 76344813], [76345734, 76345838], [76346930, 76347055], [76349305, 76349506], [76354935, 76355054], [76356380, 76356509], [76363591, 76363766], [76365302, 76365391], [76378380, 76378923]] [[76262670, 76262914], [76269415, 76269598], [76272665, 76272826], [76276381, 76276492], [76280705, 76280821], [76282057, 76282231], [76288093, 76288266], [76313893, 76313961], [76333198, 76333273], [76342620, 76342685], [76343833, 76344003], [76344676, 76344813], [76345734, 76345838], [76346930, 76347055], [76349305, 76349506], [76354935, 76355054], [76356380, 76356509], [76363591, 76363766], [76365302, 76365391], [76378380, 76378572]]
NM_002440 [[76262555, 76262914], [76269415, 76269598], [76272665, 76272826], [76276381, 76276492], [76280705, 76280821], [76282057, 76282231], [76288093, 76288266], [76313893, 76313961], [76333198, 76333273], [76342620, 76342685], [76343833, 76344003], [76344676, 76344813], [76345734, 76345838], [76346930, 76347055], [76349305, 76349506], [76354935, 76355054], [76356380, 76356509], [76363591, 76363766], [76365302, 76365391], [76378380, 76378923]] [[76262670, 76262914], [76269415, 76269598], [76272665, 76272826], [76276381, 76276492], [76280705, 76280821], [76282057, 76282231], [76288093, 76288266], [76313893, 76313961], [76333198, 76333273], [76342620, 76342685], [76343833, 76344003], [76344676, 76344813], [76345734, 76345838], [76346930, 76347055], [76349305, 76349506], [76354935, 76355054], [76356380, 76356509], [76363591, 76363766], [76365302, 76365391], [76378380, 76378572]]
Promoter
Chrom Start End Description
chr1 76262552 76262588 CAGE_peak_1_at_MSH4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I075784 75784084 75791804 2.35 [{'connected_gene': 'RABGGTB', 'score': 559.18}, {'connected_gene': 'SNORD45B', 'score': 550.77}, {'connected_gene': 'GC01P075797', 'score': 550.77}, {'connected_gene': 'GC01P075800', 'score': 550.77}, {'connected_gene': 'GC01P075799', 'score': 550.77}, {'connected_gene': 'SNORD45C', 'score': 550.77}, {'connected_gene': 'SNORD45A', 'score': 550.77}, {'connected_gene': 'MSH4', 'score': 22.49}, {'connected_gene': 'DLSTP1', 'score': 10.1}, {'connected_gene': 'ACADM', 'score': 7.46}]
chr1 GH01I075765 75765070 75766712 0.66 [{'connected_gene': 'MSH4', 'score': 11.63}, {'connected_gene': 'ACADM', 'score': 9.78}, {'connected_gene': 'RABGGTB', 'score': 7.22}, {'connected_gene': 'DLSTP1', 'score': 0.34}]
chr1 GH01I075797 75796769 75796905 1.3 [{'connected_gene': 'MSH4', 'score': 550.77}, {'connected_gene': 'SNORD45B', 'score': 0.44}]
chr1 GH01I075614 75614469 75617019 1.36 [{'connected_gene': 'MSH4', 'score': 8.94}, {'connected_gene': 'GC01M075617', 'score': 0.44}, {'connected_gene': 'GC01M075599', 'score': 0.37}, {'connected_gene': 'SLC44A5', 'score': 0.14}]
chr1 GH01I075796 75796916 75797205 0.78 [{'connected_gene': 'MSH4', 'score': 550.77}, {'connected_gene': 'DLSTP1', 'score': 10.07}, {'connected_gene': 'GC01M075828', 'score': 0.26}]
chr1 GH01I075969 75969696 75969845 0.38 [{'connected_gene': 'MSH4', 'score': 6.6}, {'connected_gene': 'LOC105378806', 'score': 0.29}, {'connected_gene': 'LOC101927342', 'score': 0.28}]
chr1 GH01I075964 75964496 75964645 0.59 [{'connected_gene': 'MSH4', 'score': 9.77}, {'connected_gene': 'LOC101927342', 'score': 0.29}, {'connected_gene': 'LOC105378806', 'score': 0.28}]
chr1 GH01I076267 76267555 76270054 0.72 [{'connected_gene': 'MSH4', 'score': 3.99}, {'connected_gene': 'GC01M076190', 'score': 0.18}, {'connected_gene': 'LOC100418965', 'score': 0.17}, {'connected_gene': 'ST6GALNAC3', 'score': 0.08}]
chr1 GH01I075722 75722101 75728122 2.29 [{'connected_gene': 'ACADM', 'score': 568.97}, {'connected_gene': 'SLC44A5', 'score': 550.77}, {'connected_gene': 'ENSG00000178193', 'score': 550.77}, {'connected_gene': 'RABGGTB', 'score': 18.63}, {'connected_gene': 'SNORD45C', 'score': 12.18}, {'connected_gene': 'SNORD45A', 'score': 12.18}, {'connected_gene': 'MSH4', 'score': 11.61}, {'connected_gene': 'PIR54256', 'score': 0.37}]
chr1 GH01I076002 76002865 76003019 0.22 [{'connected_gene': 'LOC105378806', 'score': 550.77}, {'connected_gene': 'ST6GALNAC3', 'score': 10.51}, {'connected_gene': 'SLC44A5', 'score': 8.75}, {'connected_gene': 'ASB17', 'score': 8.09}, {'connected_gene': 'MSH4', 'score': 7.37}, {'connected_gene': 'ENSG00000230027', 'score': 0.28}, {'connected_gene': 'LOC101927342', 'score': 0.19}]
chr1 GH01I075671 75671945 75673743 0.9 [{'connected_gene': 'PIR63059', 'score': 550.77}, {'connected_gene': 'GC01P075675', 'score': 550.77}, {'connected_gene': 'ACADM', 'score': 17.7}, {'connected_gene': 'DLSTP1', 'score': 10.16}, {'connected_gene': 'MSH4', 'score': 8.4}, {'connected_gene': 'LOC100421536', 'score': 7.99}, {'connected_gene': 'SLC44A5', 'score': 0.23}]
chr1 GH01I076040 76040066 76041629 0.62 [{'connected_gene': 'ENSG00000230027', 'score': 550.77}, {'connected_gene': 'ST6GALNAC3', 'score': 24.87}, {'connected_gene': 'LOC101927342', 'score': 6.4}, {'connected_gene': 'ACADM', 'score': 5.25}, {'connected_gene': 'MSH4', 'score': 5.16}, {'connected_gene': 'LOC105378806', 'score': 0.28}]
chr1 GH01I075909 75908756 75908945 0.56 [{'connected_gene': 'GC01P075906', 'score': 0.77}, {'connected_gene': 'ASB17', 'score': 0.34}, {'connected_gene': 'MSH4', 'score': 0.14}]
chr1 GH01I075908 75908956 75909105 0.49 [{'connected_gene': 'GC01P075906', 'score': 0.77}, {'connected_gene': 'ASB17', 'score': 0.34}, {'connected_gene': 'MSH4', 'score': 0.14}]