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
ENST00000377798 [[37485931, 37486120], [37486699, 37486803], [37487859, 37487936], [37489311, 37489397], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503694]] [[37486044, 37486120], [37486699, 37486803], [37487859, 37487936], [37489311, 37489397], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503199]]
ENST00000442009 [[37485944, 37486120], [37486699, 37486803], [37487859, 37487936], [37489311, 37489397], [37492278, 37492372], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503550]] [[37489358, 37489397], [37492278, 37492372], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503199]]
ENST00000377792 [[37486149, 37486803], [37487859, 37487936], [37489311, 37489397], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503694]] [[37486437, 37486803], [37487859, 37487936], [37489311, 37489397], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503199]]
NM_022490 [[37485931, 37486120], [37486699, 37486803], [37487859, 37487936], [37489311, 37489397], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503694]] [[37486044, 37486120], [37486699, 37486803], [37487859, 37487936], [37489311, 37489397], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503199]]
NM_001282766 [[37485931, 37486120], [37486699, 37486803], [37487859, 37487936], [37489311, 37489397], [37492278, 37492372], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503694]] [[37489358, 37489397], [37492278, 37492372], [37492653, 37492712], [37493555, 37493700], [37495165, 37495273], [37495886, 37495983], [37498087, 37498221], [37500836, 37500918], [37501709, 37501841], [37503039, 37503199]]
Promoter
Chrom Start End Description
chr9 37485936 37485990 CAGE_peak_1_at_POLR1E_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I037408 37408285 37410827 1.34 [{'connected_gene': 'ZBTB5', 'score': 10.43}, {'connected_gene': 'GRHPR', 'score': 7.81}, {'connected_gene': 'PAX5', 'score': 5.14}, {'connected_gene': 'ZCCHC7', 'score': 2.21}, {'connected_gene': 'TOMM5', 'score': 1.61}, {'connected_gene': 'POLR1E', 'score': 1.46}, {'connected_gene': 'LINC01627', 'score': 0.39}, {'connected_gene': 'LOC105376035', 'score': 0.26}]
chr9 GH09I037463 37463345 37469184 2.28 [{'connected_gene': 'ZBTB5', 'score': 574.67}, {'connected_gene': 'DCAF10', 'score': 40.25}, {'connected_gene': 'EXOSC3', 'score': 40.2}, {'connected_gene': 'ZCCHC7', 'score': 31.65}, {'connected_gene': 'RPL21P83', 'score': 15.18}, {'connected_gene': 'RNF38', 'score': 12.37}, {'connected_gene': 'TRMT10B', 'score': 12.04}, {'connected_gene': 'GRHPR', 'score': 11.35}, {'connected_gene': 'TMX2P1', 'score': 11.23}, {'connected_gene': 'POLR1E', 'score': 10.12}, {'connected_gene': 'KCTD9P3', 'score': 0.39}]
chr9 GH09I037902 37902074 37905473 2.31 [{'connected_gene': 'SLC25A51', 'score': 550.77}, {'connected_gene': 'ZCCHC7', 'score': 16.42}, {'connected_gene': 'TRMT10B', 'score': 12.75}, {'connected_gene': 'TMX2P1', 'score': 11.53}, {'connected_gene': 'EXOSC3', 'score': 10.49}, {'connected_gene': 'POLR1E', 'score': 9.95}, {'connected_gene': 'PIR53315', 'score': 0.39}, {'connected_gene': 'PAICSP1', 'score': 0.31}, {'connected_gene': 'GC09M038093', 'score': 0.18}, {'connected_gene': 'ENSG00000255872', 'score': 0.1}]
chr9 GH09I037692 37692244 37693981 0.63 [{'connected_gene': 'ZCCHC7', 'score': 21.53}, {'connected_gene': 'FRMPD1', 'score': 20.43}, {'connected_gene': 'EXOSC3', 'score': 12.33}, {'connected_gene': 'DCAF10', 'score': 12.31}, {'connected_gene': 'ZBTB5', 'score': 10.73}, {'connected_gene': 'POLR1E', 'score': 10.09}, {'connected_gene': 'RPL21P83', 'score': 6.58}, {'connected_gene': 'GC09M037661', 'score': 0.29}, {'connected_gene': 'RN7SKP171', 'score': 0.29}, {'connected_gene': 'TRMT10B', 'score': 0.21}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I038141 38141406 38142824 0.85 [{'connected_gene': 'DCAF10', 'score': 14.1}, {'connected_gene': 'ZBTB5', 'score': 12.57}, {'connected_gene': 'POLR1E', 'score': 11.47}, {'connected_gene': 'SHB', 'score': 8.01}, {'connected_gene': 'GC09P038148', 'score': 0.44}, {'connected_gene': 'PIR39865', 'score': 0.34}]
chr9 GH09I036991 36991303 36998649 1.31 [{'connected_gene': 'DCAF10', 'score': 14.08}, {'connected_gene': 'ZBTB5', 'score': 12.59}, {'connected_gene': 'POLR1E', 'score': 11.48}, {'connected_gene': 'PAX5', 'score': 11.41}, {'connected_gene': 'ZCCHC7', 'score': 10.92}, {'connected_gene': 'RPL21P83', 'score': 4.94}, {'connected_gene': 'LOC105376032', 'score': 0.44}, {'connected_gene': 'MIR4476', 'score': 0.15}]
chr9 GH09I037477 37477175 37477947 0.46 [{'connected_gene': 'KCTD9P3', 'score': 550.77}, {'connected_gene': 'ENSG00000234160', 'score': 11.22}, {'connected_gene': 'GRHPR', 'score': 10.99}, {'connected_gene': 'ZCCHC7', 'score': 10.98}, {'connected_gene': 'RPL21P83', 'score': 7.19}, {'connected_gene': 'POLR1E', 'score': 0.44}]
chr9 GH09I037485 37485062 37488539 2.21 [{'connected_gene': 'POLR1E', 'score': 580.95}, {'connected_gene': 'RPL21P83', 'score': 44.65}, {'connected_gene': 'ZCCHC7', 'score': 27.91}, {'connected_gene': 'EXOSC3', 'score': 23.7}, {'connected_gene': 'ZBTB5', 'score': 16.41}, {'connected_gene': 'FBXO10', 'score': 16.31}, {'connected_gene': 'ENSG00000234160', 'score': 12.54}, {'connected_gene': 'DCAF10', 'score': 11.04}, {'connected_gene': 'TOMM5', 'score': 10.79}, {'connected_gene': 'ENSG00000256966', 'score': 10.79}, {'connected_gene': 'TMX2P1', 'score': 9.83}, {'connected_gene': 'FRMPD1', 'score': 9.74}, {'connected_gene': 'GRHPR', 'score': 8.88}, {'connected_gene': 'GC09M037494', 'score': 0.77}]
chr9 GH09I037617 37617217 37620681 0.66 [{'connected_gene': 'POLR1E', 'score': 14.71}, {'connected_gene': 'RPL21P83', 'score': 10.66}, {'connected_gene': 'GC09M037636', 'score': 0.37}, {'connected_gene': 'FRMPD1', 'score': 0.37}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I038175 38175604 38177083 0.69 [{'connected_gene': 'EXOSC3', 'score': 32.79}, {'connected_gene': 'ZBTB5', 'score': 32.09}, {'connected_gene': 'DCAF10', 'score': 30.13}, {'connected_gene': 'TRMT10B', 'score': 25.31}, {'connected_gene': 'ENSG00000200026', 'score': 11.8}, {'connected_gene': 'TMX2P1', 'score': 11.25}, {'connected_gene': 'RPL21P83', 'score': 10.11}, {'connected_gene': 'POLR1E', 'score': 9.69}, {'connected_gene': 'PIR59956', 'score': 0.77}, {'connected_gene': 'PIR60591', 'score': 0.37}]
chr9 GH09I037799 37799682 37802575 2.14 [{'connected_gene': 'EXOSC3', 'score': 579.34}, {'connected_gene': 'DCAF10', 'score': 561.97}, {'connected_gene': 'TRMT10B', 'score': 34.5}, {'connected_gene': 'ZBTB5', 'score': 30.73}, {'connected_gene': 'ZCCHC7', 'score': 23.66}, {'connected_gene': 'POLR1E', 'score': 20.02}, {'connected_gene': 'SLC25A51', 'score': 13.16}, {'connected_gene': 'TMX2P1', 'score': 11.37}, {'connected_gene': 'RPL21P83', 'score': 10.14}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I037026 37026011 37038375 2.26 [{'connected_gene': 'PAX5', 'score': 573.67}, {'connected_gene': 'DCAF10', 'score': 16.92}, {'connected_gene': 'ZCCHC7', 'score': 16.56}, {'connected_gene': 'EXOSC3', 'score': 10.25}, {'connected_gene': 'POLR1E', 'score': 9.8}, {'connected_gene': 'LOC105376032', 'score': 5.76}, {'connected_gene': 'ZBTB5', 'score': 2.01}, {'connected_gene': 'LOC105376031', 'score': 0.77}]
chr9 GH09I037590 37590671 37593213 2.09 [{'connected_gene': 'TOMM5', 'score': 557.21}, {'connected_gene': 'ENSG00000256966', 'score': 550.77}, {'connected_gene': 'ZCCHC7', 'score': 27.9}, {'connected_gene': 'EXOSC3', 'score': 23.72}, {'connected_gene': 'DCAF10', 'score': 11.06}, {'connected_gene': 'TMX2P1', 'score': 9.84}, {'connected_gene': 'POLR1E', 'score': 9.09}, {'connected_gene': 'GC09P037586', 'score': 0.44}, {'connected_gene': 'ENSG00000255872', 'score': 0.04}]
chr9 GH09I037594 37593324 37593378 0.46 [{'connected_gene': 'TOMM5', 'score': 550.77}, {'connected_gene': 'ENSG00000256966', 'score': 550.77}, {'connected_gene': 'POLR1E', 'score': 9.75}, {'connected_gene': 'FRMPD1', 'score': 0.44}, {'connected_gene': 'ENSG00000255872', 'score': 0.04}]
chr9 GH09I037573 37573954 37577535 1.89 [{'connected_gene': 'FBXO10', 'score': 565.23}, {'connected_gene': 'POLR1E', 'score': 14.7}, {'connected_gene': 'ZBTB5', 'score': 6.11}, {'connected_gene': 'GC09M037564', 'score': 0.44}, {'connected_gene': 'ENSG00000256966', 'score': 0.37}]
chr9 GH09I037550 37550443 37551699 0.38 [{'connected_gene': 'FBXO10', 'score': 20.13}, {'connected_gene': 'ENSG00000234160', 'score': 12.14}, {'connected_gene': 'TOMM5', 'score': 11.43}, {'connected_gene': 'ENSG00000256966', 'score': 11.43}, {'connected_gene': 'POLR1E', 'score': 11.08}, {'connected_gene': 'FRMPD1', 'score': 10.09}, {'connected_gene': 'PIR31436', 'score': 0.39}, {'connected_gene': 'GC09M037564', 'score': 0.37}]
chr9 GH09I037482 37482404 37482593 0.88 [{'connected_gene': 'FRMPD1', 'score': 9.74}, {'connected_gene': 'POLR1E', 'score': 0.77}, {'connected_gene': 'KCTD9P3', 'score': 0.44}]
chr9 GH09I037602 37602464 37603433 0.74 [{'connected_gene': 'FRMPD1', 'score': 550.77}, {'connected_gene': 'POLR1E', 'score': 15.24}, {'connected_gene': 'TOMM5', 'score': 0.39}, {'connected_gene': 'ENSG00000255872', 'score': 0.04}]
chr9 GH09I037753 37753184 37754703 1.93 [{'connected_gene': 'TRMT10B', 'score': 565.4}, {'connected_gene': 'TMX2P1', 'score': 24.65}, {'connected_gene': 'SLC25A51', 'score': 13.1}, {'connected_gene': 'ZCCHC7', 'score': 13.02}, {'connected_gene': 'POLR1E', 'score': 11.34}, {'connected_gene': 'DCAF10', 'score': 10.86}, {'connected_gene': 'ZBTB5', 'score': 10.51}, {'connected_gene': 'EXOSC3', 'score': 10.31}, {'connected_gene': 'GC09M037773', 'score': 0.37}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I038073 38073933 38075274 0.97 [{'connected_gene': 'LOC105376039', 'score': 550.77}, {'connected_gene': 'DCAF10', 'score': 14.11}, {'connected_gene': 'ZBTB5', 'score': 12.57}, {'connected_gene': 'POLR1E', 'score': 11.47}, {'connected_gene': 'ZCCHC7', 'score': 10.82}, {'connected_gene': 'IGFBPL1', 'score': 9.54}, {'connected_gene': 'SHB', 'score': 0.44}]
chr9 GH09I037501 37501564 37505398 0.66 [{'connected_gene': 'PIR55770', 'score': 550.77}, {'connected_gene': 'PIR31469', 'score': 550.77}, {'connected_gene': 'PIR42939', 'score': 550.77}, {'connected_gene': 'RPL21P83', 'score': 44.28}, {'connected_gene': 'POLR1E', 'score': 30.54}, {'connected_gene': 'FBXO10', 'score': 5.9}, {'connected_gene': 'ZBTB5', 'score': 5.85}]
chr9 GH09I037564 37564810 37567238 0.79 [{'connected_gene': 'GC09M037564', 'score': 550.77}, {'connected_gene': 'RPL21P83', 'score': 17.87}, {'connected_gene': 'FRMPD1', 'score': 10.21}, {'connected_gene': 'POLR1E', 'score': 6.9}, {'connected_gene': 'FBXO10', 'score': 4.83}, {'connected_gene': 'PIR31436', 'score': 0.31}, {'connected_gene': 'ENSG00000256966', 'score': 0.31}]