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
ENST00000555577 [[99344130, 99344671], [99361613, 99361747], [99410697, 99410898], [99416041, 99416173], [99416577, 99416731], [99422663, 99422725], [99424641, 99424741], [99426194, 99426328], [99426817, 99426877], [99433337, 99433667]] [[99344460, 99344671], [99361613, 99361747], [99410697, 99410898], [99416041, 99416173], [99416577, 99416731], [99422663, 99422725], [99424641, 99424741], [99426194, 99426328], [99426817, 99426877], [99433337, 99433499]]
ENST00000370631 [[99400442, 99400934], [99410697, 99410898], [99416041, 99416173], [99416577, 99416731], [99422663, 99422725], [99424641, 99424741], [99426194, 99426328], [99426817, 99426877], [99433337, 99436191]] [[99400499, 99400934], [99410697, 99410898], [99416041, 99416173], [99416577, 99416731], [99422663, 99422725], [99424641, 99424741], [99426194, 99426328], [99426817, 99426877], [99433337, 99433499]]
NM_018425 [[99400442, 99400934], [99410697, 99410898], [99416041, 99416173], [99416577, 99416731], [99422663, 99422725], [99424641, 99424741], [99426194, 99426328], [99426817, 99426877], [99433337, 99436191]] [[99400499, 99400934], [99410697, 99410898], [99416041, 99416173], [99416577, 99416731], [99422663, 99422725], [99424641, 99424741], [99426194, 99426328], [99426817, 99426877], [99433337, 99433499]]
Promoter
Chrom Start End Description
chr10 99344104 99344152 CAGE_peak_4_at_PI4K2A_5end
chr10 99344196 99344212 CAGE_peak_8_at_PI4K2A_5end
chr10 99344428 99344441 CAGE_peak_5_at_PI4K2A_5end
chr10 99400425 99400436 CAGE_peak_3_at_PI4K2A_5end
chr10 99400448 99400497 CAGE_peak_1_at_PI4K2A_5end
chr10 99400514 99400525 CAGE_peak_2_at_PI4K2A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I097726 97726260 97727573 1.25 [{'connected_gene': 'MARVELD1', 'score': 18.83}, {'connected_gene': 'AVPI1', 'score': 11.46}, {'connected_gene': 'PI4K2A', 'score': 10.29}, {'connected_gene': 'C10orf62', 'score': 10.24}, {'connected_gene': 'HOGA1', 'score': 10.23}, {'connected_gene': 'ENSG00000249967', 'score': 10.23}, {'connected_gene': 'SFRP5', 'score': 10.14}, {'connected_gene': 'GC10M097717', 'score': 0.44}, {'connected_gene': 'ZFYVE27', 'score': 0.39}]
chr10 GH10I097742 97742851 97744526 0.74 [{'connected_gene': 'MARVELD1', 'score': 15.5}, {'connected_gene': 'HOGA1', 'score': 14.92}, {'connected_gene': 'SFRP5', 'score': 11.69}, {'connected_gene': 'PI4K2A', 'score': 9.73}, {'connected_gene': 'C10orf62', 'score': 9.69}, {'connected_gene': 'ENSG00000249967', 'score': 9.69}, {'connected_gene': 'ZFYVE27', '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 GH10I097681 97681943 97691293 2.62 [{'connected_gene': 'AVPI1', 'score': 550.77}, {'connected_gene': 'MORN4', 'score': 30.88}, {'connected_gene': 'MARVELD1', 'score': 20.88}, {'connected_gene': 'ZFYVE27', 'score': 18.91}, {'connected_gene': 'MMS19', 'score': 11.47}, {'connected_gene': 'RRP12', 'score': 7.45}, {'connected_gene': 'R3HCC1L', 'score': 4.42}, {'connected_gene': 'PI4K2A', 'score': 3.76}, {'connected_gene': 'PIR31130', 'score': 0.77}, {'connected_gene': 'PIR48246', 'score': 0.39}, {'connected_gene': 'GC10M097562', 'score': 0.31}]
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 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 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 GH10I097355 97355202 97357334 0.97 [{'connected_gene': 'RRP12', 'score': 34.14}, {'connected_gene': 'ARHGAP19', 'score': 24.29}, {'connected_gene': 'SLIT1', 'score': 9.92}, {'connected_gene': 'SLIT1-AS1', 'score': 9.89}, {'connected_gene': 'ENSG00000249967', 'score': 9.63}, {'connected_gene': 'HOGA1', 'score': 9.63}, {'connected_gene': 'C10orf62', 'score': 9.63}, {'connected_gene': 'PI4K2A', 'score': 9.62}, {'connected_gene': 'PGAM1', 'score': 7.32}, {'connected_gene': 'FRAT2', 'score': 0.34}, {'connected_gene': 'RPL34P20', 'score': 0.28}]
chr10 GH10I097353 97353402 97354999 0.8 [{'connected_gene': 'RRP12', 'score': 32.82}, {'connected_gene': 'ARHGAP19', 'score': 24.28}, {'connected_gene': 'PI4K2A', 'score': 11.64}, {'connected_gene': 'SLIT1', 'score': 10.08}, {'connected_gene': 'SLIT1-AS1', 'score': 10.05}, {'connected_gene': 'ENSG00000249967', 'score': 9.76}, {'connected_gene': 'HOGA1', 'score': 9.76}, {'connected_gene': 'C10orf62', 'score': 9.75}, {'connected_gene': 'FRAT1', 'score': 8.16}, {'connected_gene': 'FRAT2', 'score': 7.97}, {'connected_gene': 'ZFYVE27', 'score': 4.51}, {'connected_gene': 'LCOR', 'score': 2.75}, {'connected_gene': 'RPL34P20', 'score': 0.28}]
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 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 GH10I097659 97659675 97659985 0.49 [{'connected_gene': 'ZFYVE27', 'score': 7.66}, {'connected_gene': 'PIR48481', 'score': 0.37}, {'connected_gene': 'PI4K2A', 'score': 0.37}, {'connected_gene': 'GC10M097562', 'score': 0.23}, {'connected_gene': 'ENSG00000249967', 'score': 0.18}]
chr10 GH10I097647 97647327 97653371 1.35 [{'connected_gene': 'MORN4', 'score': 31.99}, {'connected_gene': 'MMS19', 'score': 13.71}, {'connected_gene': 'PI4K2A', 'score': 4.87}, {'connected_gene': 'PIR48481', 'score': 0.31}, {'connected_gene': 'GC10M097562', 'score': 0.21}, {'connected_gene': 'ENSG00000249967', 'score': 0.2}]
chr10 GH10I097661 97661421 97670983 1.14 [{'connected_gene': 'MORN4', 'score': 29.27}, {'connected_gene': 'AVPI1', 'score': 13.26}, {'connected_gene': 'ZFYVE27', 'score': 7.66}, {'connected_gene': 'HOGA1', 'score': 5.17}, {'connected_gene': 'PIR48481', 'score': 0.44}, {'connected_gene': 'PI4K2A', 'score': 0.31}, {'connected_gene': 'GC10M097562', 'score': 0.25}, {'connected_gene': 'ENSG00000249967', 'score': 0.18}]
chr10 GH10I097643 97643001 97643600 0.43 [{'connected_gene': 'MORN4', 'score': 23.74}, {'connected_gene': 'PI4K2A', 'score': 0.77}, {'connected_gene': 'PIR48481', 'score': 0.29}, {'connected_gene': 'ENSG00000249967', 'score': 0.22}, {'connected_gene': 'GC10M097562', 'score': 0.19}]
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 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 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 GH10I097676 97676304 97677348 0.92 [{'connected_gene': 'PIR48481', 'score': 550.77}, {'connected_gene': 'PIR48246', 'score': 550.77}, {'connected_gene': 'MORN4', 'score': 24.63}, {'connected_gene': 'LCOR', 'score': 13.07}, {'connected_gene': 'MMS19', 'score': 12.98}, {'connected_gene': 'R3HCC1L', 'score': 12.84}, {'connected_gene': 'ANKRD2', 'score': 7.29}, {'connected_gene': 'AVPI1', 'score': 0.39}, {'connected_gene': 'GC10M097562', 'score': 0.28}, {'connected_gene': 'PI4K2A', 'score': 0.28}]
chr10 GH10I097673 97673572 97675065 0.77 [{'connected_gene': 'PIR48246', 'score': 550.77}, {'connected_gene': 'PIR48481', 'score': 550.77}, {'connected_gene': 'MORN4', 'score': 24.49}, {'connected_gene': 'ZFYVE27', 'score': 6.82}, {'connected_gene': 'PI4K2A', 'score': 0.29}, {'connected_gene': 'GC10M097562', 'score': 0.26}, {'connected_gene': 'ENSG00000249967', 'score': 0.17}]
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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