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
ENST00000439211 [[79922046, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950802]] [[79924905, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950308]]
ENST00000505337 [[79923835, 79924757], [79924857, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950493]] [[79924905, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950308]]
ENST00000511032 [[79923942, 79924984], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950371]] [[79924963, 79924984], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950308]]
ENST00000504396 [[79924041, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945313], [79950222, 79950377]] [[79924905, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945293]]
ENST00000513048 [[79924356, 79924984], [79929695, 79929811], [79945207, 79945313], [79950222, 79950366]] None
ENST00000508282 [[79924882, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945313], [79949826, 79949920]] None
ENST00000513314 [[79944759, 79945313], [79949826, 79949854]] None
NM_000791 [[79922044, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950800]] [[79924905, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950308]]
NM_001290357 [[79922044, 79924984], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950800]] [[79924963, 79924984], [79933701, 79933828], [79945207, 79945313], [79949826, 79949876], [79950222, 79950308]]
NM_001290354 [[79922044, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945313], [79950222, 79950800]] [[79924905, 79924984], [79929695, 79929811], [79933701, 79933828], [79945207, 79945293]]
NR_110936 [[79922044, 79924984], [79929695, 79929811], [79945207, 79945313], [79950222, 79950800]] None
Promoter
Chrom Start End Description
chr5 79949935 79949949 CAGE_peak_5_at_DHFR_5end
chr5 79950379 79950380 CAGE_peak_3_at_DHFR_5end
chr5 79950775 79950821 CAGE_peak_1_at_DHFR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I080399 80399151 80400778 1.36 [{'connected_gene': 'ZFYVE16', 'score': 27.4}, {'connected_gene': 'RNU6-211P', 'score': 10.92}, {'connected_gene': 'DHFR', 'score': 6.72}, {'connected_gene': 'FAM151B', 'score': 4.18}, {'connected_gene': 'GC05M080366', 'score': 0.29}]
chr5 GH05I080989 80989857 80991605 0.49 [{'connected_gene': 'RASGRF2', 'score': 6.67}, {'connected_gene': 'DHFR', 'score': 5.28}, {'connected_gene': 'ENSG00000251001', 'score': 0.44}, {'connected_gene': 'RASGRF2-AS1', 'score': 0.31}]
chr5 GH05I080959 80959121 80962239 1.92 [{'connected_gene': 'RASGRF2', 'score': 559.29}, {'connected_gene': 'RASGRF2-AS1', 'score': 550.77}, {'connected_gene': 'CKMT2-AS1', 'score': 11.9}, {'connected_gene': 'ENSG00000248794', 'score': 9.79}, {'connected_gene': 'MTX3', 'score': 9.72}, {'connected_gene': 'DHFR', 'score': 4.94}]
chr5 GH05I080569 80569882 80570627 1.31 [{'connected_gene': 'ANKRD34B', 'score': 550.77}, {'connected_gene': 'DHFR', 'score': 9.72}, {'connected_gene': 'RPL7P24', 'score': 0.2}]
chr5 GH05I080162 80162432 80162797 0.36 [{'connected_gene': 'SERINC5', 'score': 13.92}, {'connected_gene': 'ENSG00000251675', 'score': 11.74}, {'connected_gene': 'DHFR', 'score': 4.62}, {'connected_gene': 'MSH3', 'score': 1.77}, {'connected_gene': 'GC05P080147', 'score': 0.37}]
chr5 GH05I080251 80251315 80259062 2.46 [{'connected_gene': 'SERINC5', 'score': 550.77}, {'connected_gene': 'GC05P080257', 'score': 550.77}, {'connected_gene': 'PAPD4', 'score': 56.54}, {'connected_gene': 'RPS3AP20', 'score': 22.04}, {'connected_gene': 'MTX3', 'score': 12.0}, {'connected_gene': 'ENSG00000251675', 'score': 10.99}, {'connected_gene': 'CTD-2201I18.1', 'score': 10.3}, {'connected_gene': 'THBS4', 'score': 10.28}, {'connected_gene': 'DHFR', 'score': 5.27}, {'connected_gene': 'GC05P080258', 'score': 0.77}, {'connected_gene': 'GC05P080147', 'score': 0.14}]
chr5 GH05I080179 80179262 80196449 1.69 [{'connected_gene': 'SERINC5', 'score': 18.81}, {'connected_gene': 'ENSG00000251675', 'score': 11.2}, {'connected_gene': 'CTD-2201I18.1', 'score': 10.05}, {'connected_gene': 'THBS4', 'score': 9.98}, {'connected_gene': 'DHFR', 'score': 5.98}, {'connected_gene': 'LINC01337', 'score': 4.71}, {'connected_gene': 'GC05P080147', 'score': 0.26}]
chr5 GH05I080157 80157505 80160591 0.43 [{'connected_gene': 'SERINC5', 'score': 21.29}, {'connected_gene': 'ENSG00000251675', 'score': 12.18}, {'connected_gene': 'CTD-2201I18.1', 'score': 10.13}, {'connected_gene': 'THBS4', 'score': 10.05}, {'connected_gene': 'DHFR', 'score': 4.77}, {'connected_gene': 'GC05P080147', 'score': 0.39}]
chr5 GH05I080411 80411401 80412000 0.63 [{'connected_gene': 'DHFR', 'score': 6.57}, {'connected_gene': 'ZFYVE16', 'score': 0.77}, {'connected_gene': 'FAM151B', 'score': 0.18}]
chr5 GH05I080941 80941302 80942607 0.31 [{'connected_gene': 'DHFR', 'score': 5.25}, {'connected_gene': 'RASGRF2', 'score': 0.37}, {'connected_gene': 'RPS26P27', 'score': 0.17}]
chr5 GH05I080860 80860436 80862170 0.2 [{'connected_gene': 'DHFR', 'score': 22.66}, {'connected_gene': 'MSH3', 'score': 14.62}, {'connected_gene': 'RPS26P27', 'score': 0.44}, {'connected_gene': 'RASGRF2', 'score': 0.15}]
chr5 GH05I080654 80652842 80656635 2.02 [{'connected_gene': 'DHFR', 'score': 618.66}, {'connected_gene': 'MSH3', 'score': 580.73}, {'connected_gene': 'GC05P080655', 'score': 550.77}, {'connected_gene': 'CKMT2-AS1', 'score': 12.75}, {'connected_gene': 'ZCCHC9', 'score': 10.63}]
chr5 GH05I080754 80754772 80758519 0.91 [{'connected_gene': 'DHFR', 'score': 45.45}, {'connected_gene': 'MSH3', 'score': 17.13}, {'connected_gene': 'ENSG00000248967', 'score': 0.44}, {'connected_gene': 'GC05P080808', 'score': 0.23}]
chr5 GH05I080672 80672262 80672431 0.65 [{'connected_gene': 'DHFR', 'score': 0.37}, {'connected_gene': 'MSH3', 'score': 0.37}, {'connected_gene': 'ENSG00000248967', 'score': 0.19}]
chr5 GH05I080759 80759875 80760253 0.45 [{'connected_gene': 'DHFR', 'score': 8.17}, {'connected_gene': 'ENSG00000248967', 'score': 0.39}, {'connected_gene': 'GC05P080808', 'score': 0.25}, {'connected_gene': 'MSH3', 'score': 0.14}]
chr5 GH05I080667 80667853 80669044 0.7 [{'connected_gene': 'DHFR', 'score': 62.28}, {'connected_gene': 'MSH3', 'score': 33.16}, {'connected_gene': 'ENSG00000248967', 'score': 0.18}]
chr5 GH05I080269 80269905 80271456 1.26 [{'connected_gene': 'DHFR', 'score': 5.06}, {'connected_gene': 'GC05P080258', 'score': 0.39}, {'connected_gene': 'KRT18P45', 'score': 0.37}]
chr5 GH05I080607 80607904 80608197 0.74 [{'connected_gene': 'DHFR', 'score': 21.77}, {'connected_gene': 'ANKRD34B', 'score': 11.89}, {'connected_gene': 'GC05M080611', 'score': 0.77}, {'connected_gene': 'DBIP2', 'score': 0.77}]
chr5 GH05I080487 80487108 80490800 2.01 [{'connected_gene': 'LOC105379049', 'score': 550.77}, {'connected_gene': 'FAM151B', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 25.34}, {'connected_gene': 'PAPD4', 'score': 15.85}, {'connected_gene': 'CKMT2-AS1', 'score': 15.85}, {'connected_gene': 'MTX3', 'score': 10.47}, {'connected_gene': 'ZFYVE16', 'score': 6.07}, {'connected_gene': 'DHFR', 'score': 5.33}, {'connected_gene': 'RPS27AP9', 'score': 0.39}]
chr5 GH05I080466 80466530 80468236 0.67 [{'connected_gene': 'CTD-2201I18.1', 'score': 9.69}, {'connected_gene': 'THBS4', 'score': 9.68}, {'connected_gene': 'DHFR', 'score': 5.35}, {'connected_gene': 'ZFYVE16', 'score': 4.97}, {'connected_gene': 'FAM151B', 'score': 0.34}]
chr5 GH05I080155 80155617 80157099 0.2 [{'connected_gene': 'ENSG00000251675', 'score': 12.2}, {'connected_gene': 'SERINC5', 'score': 10.27}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.74}, {'connected_gene': 'THBS4', 'score': 9.65}, {'connected_gene': 'DHFR', 'score': 4.74}, {'connected_gene': 'GC05P080147', 'score': 0.44}]
chr5 GH05I080730 80730685 80730855 0.22 [{'connected_gene': 'ENSG00000248967', 'score': 0.37}, {'connected_gene': 'DHFR', 'score': 0.18}, {'connected_gene': 'MSH3', 'score': 0.18}]
chr5 GH05I080801 80801182 80801343 0.22 [{'connected_gene': 'ENSG00000249772', 'score': 9.52}, {'connected_gene': 'DHFR', 'score': 4.16}, {'connected_gene': 'GC05P080808', 'score': 0.44}, {'connected_gene': 'ENSG00000248967', 'score': 0.23}, {'connected_gene': 'MSH3', 'score': 0.11}]
chr5 GH05I080629 80629601 80630000 0.31 [{'connected_gene': 'ENSG00000249655', 'score': 550.77}, {'connected_gene': 'DHFR', 'score': 66.63}, {'connected_gene': 'LINC01337', 'score': 0.44}]
chr5 GH05I080651 80651663 80651722 0.5 [{'connected_gene': 'GC05M080652', 'score': 550.77}, {'connected_gene': 'DHFR', 'score': 550.77}, {'connected_gene': 'MTRNR2L2', 'score': 550.77}, {'connected_gene': 'GC05P080651', 'score': 550.77}, {'connected_gene': 'GC05M080651', 'score': 550.77}]
chr5 GH05I080885 80885145 80886173 0.72 [{'connected_gene': 'ENSG00000249772', 'score': 9.78}, {'connected_gene': 'DHFR', 'score': 8.92}, {'connected_gene': 'RPS26P27', 'score': 0.31}, {'connected_gene': 'RASGRF2', 'score': 0.18}]
chr5 GH05I080656 80652162 80652311 0.2 [{'connected_gene': 'GC05M080652', 'score': 550.77}, {'connected_gene': 'MTRNR2L2', 'score': 550.77}, {'connected_gene': 'GC05P080651', 'score': 550.77}, {'connected_gene': 'GC05M080651', 'score': 550.77}, {'connected_gene': 'DHFR', 'score': 68.5}, {'connected_gene': 'GC05P080655', 'score': 0.77}]
chr5 GH05I080655 80651782 80651951 0.2 [{'connected_gene': 'GC05M080652', 'score': 550.77}, {'connected_gene': 'MTRNR2L2', 'score': 550.77}, {'connected_gene': 'GC05P080651', 'score': 550.77}, {'connected_gene': 'GC05M080651', 'score': 550.77}, {'connected_gene': 'DHFR', 'score': 0.77}]
chr5 GH05I080652 80651162 80651311 0.2 [{'connected_gene': 'GC05M080652', 'score': 550.77}, {'connected_gene': 'MTRNR2L2', 'score': 550.77}, {'connected_gene': 'GC05P080651', 'score': 550.77}, {'connected_gene': 'GC05M080651', 'score': 550.77}, {'connected_gene': 'DHFR', 'score': 0.77}]
chr5 GH05I080650 80650642 80650911 0.2 [{'connected_gene': 'GC05M080652', 'score': 550.77}, {'connected_gene': 'MTRNR2L2', 'score': 550.77}, {'connected_gene': 'GC05P080651', 'score': 550.77}, {'connected_gene': 'GC05M080651', 'score': 550.77}, {'connected_gene': 'DHFR', 'score': 0.77}, {'connected_gene': 'ENSG00000249655', 'score': 0.37}]
chr5 GH05I080653 80651322 80651471 0.2 [{'connected_gene': 'GC05M080652', 'score': 550.77}, {'connected_gene': 'MTRNR2L2', 'score': 550.77}, {'connected_gene': 'GC05P080651', 'score': 550.77}, {'connected_gene': 'GC05M080651', 'score': 550.77}, {'connected_gene': 'DHFR', 'score': 52.63}]