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
ENST00000370664 [[99258624, 99259030], [99327670, 99327898], [99329894, 99330966]] [[99258960, 99259030], [99327670, 99327898], [99329894, 99330280]]
NM_024954 [[99258638, 99259030], [99327670, 99327898], [99329894, 99330967]] [[99258960, 99259030], [99327670, 99327898], [99329894, 99330280]]
Promoter
Chrom Start End Description
chr10 99258637 99258751 CAGE_peak_1_at_UBTD1_5end
chr10 99258760 99258810 CAGE_peak_2_at_UBTD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I097444 97444851 97448521 2.04 [{'connected_gene': 'ZDHHC16', 'score': 558.66}, {'connected_gene': 'EXOSC1', 'score': 550.77}, {'connected_gene': 'PGAM1', 'score': 22.08}, {'connected_gene': 'ENSG00000200737', 'score': 12.65}, {'connected_gene': 'RRP12', 'score': 11.61}, {'connected_gene': 'MMS19', 'score': 11.38}, {'connected_gene': 'UBTD1', 'score': 11.38}, {'connected_gene': 'ANKRD2', 'score': 10.31}]
chr10 GH10I097497 97497214 97501108 2.26 [{'connected_gene': 'MMS19', 'score': 550.77}, {'connected_gene': 'UBTD1', 'score': 550.77}, {'connected_gene': 'ZDHHC16', 'score': 8.71}, {'connected_gene': 'ANKRD2', 'score': 5.43}, {'connected_gene': 'MORN4', 'score': 5.37}, {'connected_gene': 'GC10P097506', 'score': 0.44}]
chr10 GH10I097532 97532800 97534264 0.77 [{'connected_gene': 'MMS19', 'score': 11.93}, {'connected_gene': 'UBTD1', 'score': 11.93}, {'connected_gene': 'ANKRD2', 'score': 11.42}, {'connected_gene': 'ENSG00000249967', 'score': 10.9}, {'connected_gene': 'HOGA1', 'score': 10.9}, {'connected_gene': 'C10orf62', 'score': 10.89}, {'connected_gene': 'PI4K2A', 'score': 10.81}, {'connected_gene': 'SLIT1', 'score': 9.43}, {'connected_gene': 'RRP12', 'score': 4.8}, {'connected_gene': 'GC10P097530', 'score': 0.77}, {'connected_gene': 'GC10P097540', 'score': 0.44}]
chr10 GH10I097521 97521084 97521293 0.4 [{'connected_gene': 'MMS19', 'score': 12.55}, {'connected_gene': 'UBTD1', 'score': 12.55}, {'connected_gene': 'ANKRD2', 'score': 11.54}, {'connected_gene': 'ENSG00000249967', 'score': 11.03}, {'connected_gene': 'HOGA1', 'score': 11.03}, {'connected_gene': 'C10orf62', 'score': 11.03}, {'connected_gene': 'PI4K2A', 'score': 10.95}, {'connected_gene': 'GC10P097530', 'score': 0.44}, {'connected_gene': 'GC10P097506', 'score': 0.39}]
chr10 GH10I097534 97534800 97535001 0.76 [{'connected_gene': 'MMS19', 'score': 11.91}, {'connected_gene': 'UBTD1', 'score': 11.91}, {'connected_gene': 'ENSG00000249967', 'score': 10.6}, {'connected_gene': 'HOGA1', 'score': 10.6}, {'connected_gene': 'C10orf62', 'score': 10.59}, {'connected_gene': 'PI4K2A', 'score': 10.5}, {'connected_gene': 'GC10P097530', 'score': 0.77}, {'connected_gene': 'GC10P097540', 'score': 0.44}]
chr10 GH10I097545 97545464 97545800 0.62 [{'connected_gene': 'MMS19', 'score': 11.63}, {'connected_gene': 'UBTD1', 'score': 11.63}, {'connected_gene': 'ENSG00000249967', 'score': 11.53}, {'connected_gene': 'HOGA1', 'score': 11.53}, {'connected_gene': 'C10orf62', 'score': 11.52}, {'connected_gene': 'ANKRD2', 'score': 11.46}, {'connected_gene': 'PI4K2A', 'score': 11.41}, {'connected_gene': 'SFRP5', 'score': 3.94}, {'connected_gene': 'GC10P097540', 'score': 0.44}]
chr10 GH10I097553 97553144 97554237 0.96 [{'connected_gene': 'PI4K2A', 'score': 16.91}, {'connected_gene': 'MMS19', 'score': 12.01}, {'connected_gene': 'UBTD1', 'score': 12.01}, {'connected_gene': 'ENSG00000249967', 'score': 11.82}, {'connected_gene': 'HOGA1', 'score': 11.82}, {'connected_gene': 'C10orf62', 'score': 11.8}, {'connected_gene': 'PGAM1', 'score': 6.88}, {'connected_gene': 'ANKRD2', 'score': 5.33}, {'connected_gene': 'GC10P097540', 'score': 0.39}]
chr10 GH10I097639 97639841 97642491 2.44 [{'connected_gene': 'PI4K2A', 'score': 556.94}, {'connected_gene': 'R3HCC1L', 'score': 28.15}, {'connected_gene': 'MORN4', 'score': 23.89}, {'connected_gene': 'ZFYVE27', 'score': 15.88}, {'connected_gene': 'HPS1', 'score': 12.68}, {'connected_gene': 'ANKRD2', 'score': 11.81}, {'connected_gene': 'AVPI1', 'score': 11.18}, {'connected_gene': 'C10orf62', 'score': 10.96}, {'connected_gene': 'ENSG00000249967', 'score': 10.95}, {'connected_gene': 'HOGA1', 'score': 10.95}, {'connected_gene': 'MMS19', 'score': 10.49}, {'connected_gene': 'UBTD1', 'score': 10.49}, {'connected_gene': 'RRP12', 'score': 3.95}, {'connected_gene': 'PIR48481', 'score': 0.29}, {'connected_gene': 'GC10M097562', 'score': 0.19}]
chr10 GH10I097638 97638325 97639219 0.43 [{'connected_gene': 'PI4K2A', 'score': 550.77}, {'connected_gene': 'MORN4', 'score': 34.45}, {'connected_gene': 'ANKRD2', 'score': 11.81}, {'connected_gene': 'AVPI1', 'score': 11.18}, {'connected_gene': 'C10orf62', 'score': 10.97}, {'connected_gene': 'ENSG00000249967', 'score': 10.96}, {'connected_gene': 'HOGA1', 'score': 10.96}, {'connected_gene': 'ZFYVE27', 'score': 10.81}, {'connected_gene': 'MMS19', 'score': 10.5}, {'connected_gene': 'UBTD1', 'score': 10.5}, {'connected_gene': 'GC10M097562', 'score': 0.18}]
chr10 GH10I097411 97411401 97411800 0.88 [{'connected_gene': 'EXOSC1', 'score': 12.54}, {'connected_gene': 'ZDHHC16', 'score': 12.54}, {'connected_gene': 'MMS19', 'score': 10.38}, {'connected_gene': 'UBTD1', 'score': 10.38}, {'connected_gene': 'GC10M097424', 'score': 0.44}, {'connected_gene': 'ENSG00000200737', 'score': 0.44}, {'connected_gene': 'RRP12', 'score': 0.39}, {'connected_gene': 'ENSG00000231970', 'score': 0.39}, {'connected_gene': 'LOC644215', 'score': 0.39}]
chr10 GH10I097454 97454864 97455013 0.63 [{'connected_gene': 'PGAM1', 'score': 12.39}, {'connected_gene': 'ENSG00000200737', 'score': 12.37}, {'connected_gene': 'MMS19', 'score': 11.93}, {'connected_gene': 'UBTD1', 'score': 11.93}, {'connected_gene': 'SLIT1', 'score': 7.83}, {'connected_gene': 'ZDHHC16', 'score': 0.44}]
chr10 GH10I097548 97548904 97551133 0.91 [{'connected_gene': 'ANKRD2', 'score': 17.46}, {'connected_gene': 'UBTD1', 'score': 17.22}, {'connected_gene': 'MMS19', 'score': 11.73}, {'connected_gene': 'ENSG00000249967', 'score': 11.68}, {'connected_gene': 'HOGA1', 'score': 11.68}, {'connected_gene': 'C10orf62', 'score': 11.66}, {'connected_gene': 'PI4K2A', 'score': 11.54}, {'connected_gene': 'GC10P097540', 'score': 0.44}]
chr10 GH10I097598 97598446 97602705 0.54 [{'connected_gene': 'ANKRD2', 'score': 12.45}, {'connected_gene': 'MMS19', 'score': 10.71}, {'connected_gene': 'UBTD1', 'score': 10.71}, {'connected_gene': 'C10orf62', 'score': 7.42}, {'connected_gene': 'MORN4', 'score': 6.9}, {'connected_gene': 'MARVELD1', 'score': 6.17}, {'connected_gene': 'HOGA1', 'score': 6.0}, {'connected_gene': 'PGAM1', 'score': 4.31}, {'connected_gene': 'ENSG00000249967', 'score': 0.37}, {'connected_gene': 'GC10M097562', 'score': 0.14}]
chr10 GH10I097595 97595280 97598319 1.39 [{'connected_gene': 'ANKRD2', 'score': 12.48}, {'connected_gene': 'MMS19', 'score': 10.65}, {'connected_gene': 'UBTD1', 'score': 10.65}, {'connected_gene': 'C10orf62', 'score': 6.92}, {'connected_gene': 'ENSG00000249967', 'score': 0.39}, {'connected_gene': 'HOGA1', 'score': 0.39}, {'connected_gene': 'MORN4', 'score': 0.28}, {'connected_gene': 'GC10M097562', 'score': 0.13}]
chr10 GH10I097606 97606984 97607687 0.2 [{'connected_gene': 'ANKRD2', 'score': 11.84}, {'connected_gene': 'MMS19', 'score': 10.71}, {'connected_gene': 'UBTD1', 'score': 10.71}, {'connected_gene': 'C10orf62', 'score': 0.37}, {'connected_gene': 'HOGA1', 'score': 0.34}, {'connected_gene': 'ENSG00000249967', 'score': 0.34}, {'connected_gene': 'MORN4', 'score': 0.31}, {'connected_gene': 'GC10M097562', 'score': 0.14}]
chr10 GH10I097569 97569965 97576477 1.86 [{'connected_gene': 'ANKRD2', 'score': 556.73}, {'connected_gene': 'MMS19', 'score': 20.83}, {'connected_gene': 'R3HCC1L', 'score': 15.3}, {'connected_gene': 'HPS1', 'score': 13.67}, {'connected_gene': 'EXOSC1', 'score': 11.56}, {'connected_gene': 'LOXL4', 'score': 11.46}, {'connected_gene': 'LCOR', 'score': 10.93}, {'connected_gene': 'RPL13AP5', 'score': 10.91}, {'connected_gene': 'MARVELD1', 'score': 10.22}, {'connected_gene': 'ENSG00000230928', 'score': 9.74}, {'connected_gene': 'MORN4', 'score': 7.47}, {'connected_gene': 'PI4K2A', 'score': 5.91}, {'connected_gene': 'HOGA1', 'score': 5.09}, {'connected_gene': 'FRAT1', 'score': 5.06}, {'connected_gene': 'SLIT1', 'score': 5.06}, {'connected_gene': 'UBTD1', 'score': 4.93}, {'connected_gene': 'RRP12', 'score': 4.45}, {'connected_gene': 'GC10M097562', 'score': 0.11}]
chr10 GH10I097405 97405602 97409373 1.68 [{'connected_gene': 'FRAT2', 'score': 38.71}, {'connected_gene': 'RRP12', 'score': 38.21}, {'connected_gene': 'FRAT1', 'score': 22.34}, {'connected_gene': 'ARHGAP19', 'score': 21.03}, {'connected_gene': 'ZDHHC16', 'score': 12.56}, {'connected_gene': 'EXOSC1', 'score': 12.56}, {'connected_gene': 'MMS19', 'score': 10.45}, {'connected_gene': 'UBTD1', 'score': 10.45}, {'connected_gene': 'ENSG00000249967', 'score': 10.11}, {'connected_gene': 'HOGA1', 'score': 10.11}, {'connected_gene': 'C10orf62', 'score': 10.1}, {'connected_gene': 'PI4K2A', 'score': 10.09}, {'connected_gene': 'ZFYVE27', 'score': 3.63}, {'connected_gene': 'LCOR', 'score': 1.67}, {'connected_gene': 'ENSG00000231970', 'score': 0.44}, {'connected_gene': 'ENSG00000200737', 'score': 0.39}, {'connected_gene': 'GC10M097424', 'score': 0.39}, {'connected_gene': 'LOC644215', 'score': 0.37}]
chr10 GH10I097389 97389652 97391435 0.31 [{'connected_gene': 'RRP12', 'score': 43.02}, {'connected_gene': 'ARHGAP19', 'score': 22.73}, {'connected_gene': 'PGAM1', 'score': 19.16}, {'connected_gene': 'ENSG00000200737', 'score': 11.94}, {'connected_gene': 'MMS19', 'score': 10.43}, {'connected_gene': 'UBTD1', 'score': 10.43}, {'connected_gene': 'ENSG00000249967', 'score': 10.32}, {'connected_gene': 'HOGA1', 'score': 10.32}, {'connected_gene': 'C10orf62', 'score': 10.31}, {'connected_gene': 'PI4K2A', 'score': 10.3}, {'connected_gene': 'RPL34P20', 'score': 0.77}, {'connected_gene': 'FRAT2', 'score': 0.22}]
chr10 GH10I097368 97368470 97370335 0.2 [{'connected_gene': 'RRP12', 'score': 34.25}, {'connected_gene': 'ARHGAP19', 'score': 18.92}, {'connected_gene': 'ENSG00000200737', 'score': 11.96}, {'connected_gene': 'PGAM1', 'score': 11.95}, {'connected_gene': 'MMS19', 'score': 9.95}, {'connected_gene': 'UBTD1', 'score': 9.95}, {'connected_gene': 'RPL34P20', 'score': 0.34}, {'connected_gene': 'FRAT2', 'score': 0.29}]
chr10 GH10I097412 97412498 97415636 1.54 [{'connected_gene': 'RRP12', 'score': 22.23}, {'connected_gene': 'EXOSC1', 'score': 12.54}, {'connected_gene': 'ZDHHC16', 'score': 12.54}, {'connected_gene': 'MMS19', 'score': 10.39}, {'connected_gene': 'UBTD1', 'score': 10.39}, {'connected_gene': 'PGAM1', 'score': 8.6}, {'connected_gene': 'LCOR', 'score': 7.57}, {'connected_gene': 'ZFYVE27', 'score': 6.77}, {'connected_gene': 'ARHGAP19', 'score': 5.94}, {'connected_gene': 'FRAT1', 'score': 1.62}, {'connected_gene': 'FRAT2', 'score': 1.46}, {'connected_gene': 'PI4K2A', 'score': 1.39}, {'connected_gene': 'GC10M097424', 'score': 0.44}, {'connected_gene': 'ENSG00000200737', 'score': 0.44}, {'connected_gene': 'ENSG00000231970', 'score': 0.39}, {'connected_gene': 'LOC644215', 'score': 0.39}]
chr10 GH10I097387 97387918 97389212 0.31 [{'connected_gene': 'RRP12', 'score': 37.87}, {'connected_gene': 'ENSG00000200737', 'score': 11.94}, {'connected_gene': 'PGAM1', 'score': 11.92}, {'connected_gene': 'ARHGAP19', 'score': 10.69}, {'connected_gene': 'MMS19', 'score': 10.42}, {'connected_gene': 'UBTD1', 'score': 10.42}, {'connected_gene': 'ENSG00000249967', 'score': 10.31}, {'connected_gene': 'HOGA1', 'score': 10.31}, {'connected_gene': 'C10orf62', 'score': 10.31}, {'connected_gene': 'PI4K2A', 'score': 10.3}, {'connected_gene': 'RPL34P20', 'score': 0.77}, {'connected_gene': 'FRAT2', 'score': 0.23}]
chr10 GH10I097399 97399624 97402129 2.01 [{'connected_gene': 'RRP12', 'score': 589.64}, {'connected_gene': 'ENSG00000231970', 'score': 550.77}, {'connected_gene': 'ENSG00000200737', 'score': 12.88}, {'connected_gene': 'PGAM1', 'score': 12.85}, {'connected_gene': 'MMS19', 'score': 10.82}, {'connected_gene': 'UBTD1', 'score': 10.82}, {'connected_gene': 'ARHGAP19', 'score': 10.71}, {'connected_gene': 'RPL34P20', 'score': 0.44}, {'connected_gene': 'LOC644215', 'score': 0.31}]
chr10 GH10I097517 97517215 97519859 0.99 [{'connected_gene': 'HOGA1', 'score': 17.47}, {'connected_gene': 'C10orf62', 'score': 17.23}, {'connected_gene': 'ENSG00000249967', 'score': 11.23}, {'connected_gene': 'PI4K2A', 'score': 11.15}, {'connected_gene': 'ANKRD2', 'score': 11.09}, {'connected_gene': 'ZDHHC16', 'score': 6.26}, {'connected_gene': 'SLIT1', 'score': 5.93}, {'connected_gene': 'GC10P097506', 'score': 0.39}, {'connected_gene': 'GC10P097530', 'score': 0.39}, {'connected_gene': 'UBTD1', 'score': 0.37}]
chr10 GH10I097503 97503400 97503601 0.63 [{'connected_gene': 'GC10P097506', 'score': 0.77}, {'connected_gene': 'UBTD1', 'score': 0.77}]
chr10 GH10I097537 97537941 97544754 1.66 [{'connected_gene': 'GC10P097540', 'score': 550.77}, {'connected_gene': 'PI4K2A', 'score': 19.56}, {'connected_gene': 'ANKRD2', 'score': 16.65}, {'connected_gene': 'MMS19', 'score': 11.65}, {'connected_gene': 'UBTD1', 'score': 11.65}, {'connected_gene': 'ENSG00000249967', 'score': 11.52}, {'connected_gene': 'HOGA1', 'score': 11.52}, {'connected_gene': 'C10orf62', 'score': 11.5}, {'connected_gene': 'RRP12', 'score': 9.75}]
chr10 GH10I097372 97372601 97372800 0.58 [{'connected_gene': 'ENSG00000200737', 'score': 11.98}, {'connected_gene': 'PGAM1', 'score': 11.96}, {'connected_gene': 'ARHGAP19', 'score': 10.95}, {'connected_gene': 'MMS19', 'score': 9.79}, {'connected_gene': 'UBTD1', 'score': 9.79}, {'connected_gene': 'RPL34P20', 'score': 0.34}, {'connected_gene': 'FRAT2', 'score': 0.28}, {'connected_gene': 'RRP12', 'score': 0.23}]
chr10 GH10I097531 97531724 97531893 0.38 [{'connected_gene': 'GC10P097530', 'score': 550.77}, {'connected_gene': 'ANKRD2', 'score': 15.73}, {'connected_gene': 'MMS19', 'score': 11.93}, {'connected_gene': 'UBTD1', 'score': 11.93}, {'connected_gene': 'ENSG00000249967', 'score': 10.9}, {'connected_gene': 'HOGA1', 'score': 10.9}, {'connected_gene': 'C10orf62', 'score': 10.89}, {'connected_gene': 'PI4K2A', 'score': 10.81}, {'connected_gene': 'SLIT1', 'score': 9.43}, {'connected_gene': 'GC10P097540', 'score': 0.44}]
chr10 GH10I097417 97417994 97421214 1.24 [{'connected_gene': 'GC10M097424', 'score': 550.77}, {'connected_gene': 'ENSG00000200737', 'score': 550.77}, {'connected_gene': 'PIR45391', 'score': 550.77}, {'connected_gene': 'GC10M097425', 'score': 550.77}, {'connected_gene': 'RRP12', 'score': 16.28}, {'connected_gene': 'EXOSC1', 'score': 12.56}, {'connected_gene': 'ZDHHC16', 'score': 12.56}, {'connected_gene': 'MMS19', 'score': 11.02}, {'connected_gene': 'UBTD1', 'score': 11.02}, {'connected_gene': 'PGAM1', 'score': 10.16}, {'connected_gene': 'ARHGAP19', 'score': 5.69}, {'connected_gene': 'GC10M097416', 'score': 0.44}, {'connected_gene': 'LOC644215', 'score': 0.44}, {'connected_gene': 'ENSG00000231970', 'score': 0.37}]
chr10 GH10I097513 97513809 97515317 0.2 [{'connected_gene': 'ENSG00000249967', 'score': 10.95}, {'connected_gene': 'HOGA1', 'score': 10.95}, {'connected_gene': 'C10orf62', 'score': 10.93}, {'connected_gene': 'PI4K2A', 'score': 10.87}, {'connected_gene': 'ARHGAP19', 'score': 9.5}, {'connected_gene': 'ZDHHC16', 'score': 6.25}, {'connected_gene': 'RRP12', 'score': 5.2}, {'connected_gene': 'GC10P097506', 'score': 0.44}, {'connected_gene': 'GC10P097530', 'score': 0.37}, {'connected_gene': 'UBTD1', 'score': 0.37}]
chr10 GH10I097508 97508484 97508653 0.31 [{'connected_gene': 'GC10P097506', 'score': 550.77}, {'connected_gene': 'HOGA1', 'score': 10.7}, {'connected_gene': 'ENSG00000249967', 'score': 10.7}, {'connected_gene': 'C10orf62', 'score': 10.69}, {'connected_gene': 'PI4K2A', 'score': 10.63}, {'connected_gene': 'ARHGAP19', 'score': 9.5}, {'connected_gene': 'UBTD1', 'score': 0.44}, {'connected_gene': 'GC10P097530', 'score': 0.34}]
chr10 GH10I097515 97515497 97516538 0.49 [{'connected_gene': 'ENSG00000249967', 'score': 10.95}, {'connected_gene': 'HOGA1', 'score': 10.95}, {'connected_gene': 'C10orf62', 'score': 10.94}, {'connected_gene': 'PI4K2A', 'score': 10.87}, {'connected_gene': 'ZDHHC16', 'score': 6.25}, {'connected_gene': 'RRP12', 'score': 5.66}, {'connected_gene': 'GC10P097506', 'score': 0.44}, {'connected_gene': 'GC10P097530', 'score': 0.39}, {'connected_gene': 'UBTD1', 'score': 0.37}]
chr10 GH10I097560 97560969 97561400 0.66 [{'connected_gene': 'ENSG00000249967', 'score': 12.21}, {'connected_gene': 'HOGA1', 'score': 12.21}, {'connected_gene': 'C10orf62', 'score': 12.18}, {'connected_gene': 'PI4K2A', 'score': 12.05}, {'connected_gene': 'MMS19', 'score': 11.24}, {'connected_gene': 'UBTD1', 'score': 11.24}, {'connected_gene': 'ANKRD2', 'score': 0.39}, {'connected_gene': 'GC10P097540', 'score': 0.34}]

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