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
ENST00000307450 [[99374309, 99376168], [99376434, 99376544], [99376964, 99377079], [99379343, 99379440], [99393103, 99393237]] [[99376019, 99376168], [99376434, 99376544], [99376964, 99377079], [99379343, 99379410]]
ENST00000478953 [[99374309, 99376168], [99376964, 99377079], [99379343, 99379440], [99393103, 99393257]] [[99376149, 99376168], [99376964, 99377079], [99379343, 99379410]]
ENST00000335628 [[99374311, 99376168], [99376434, 99376544], [99376964, 99377079], [99393103, 99393344]] [[99376019, 99376168], [99376434, 99376544], [99376964, 99377079], [99393103, 99393344]]
ENST00000370635 [[99379166, 99379440], [99393103, 99393248]] [[99379269, 99379410]]
NM_178832 [[99374309, 99376168], [99376434, 99376544], [99376964, 99377079], [99379343, 99379440], [99393103, 99393344]] [[99376019, 99376168], [99376434, 99376544], [99376964, 99377079], [99379343, 99379410]]
NM_001098831 [[99374309, 99376168], [99376434, 99376544], [99376964, 99377079], [99379343, 99379440], [99393761, 99393913]] [[99376019, 99376168], [99376434, 99376544], [99376964, 99377079], [99379343, 99379410]]
Promoter
Chrom Start End Description
chr10 99393208 99393233 CAGE_peak_2_at_MORN4_5end
chr10 99393242 99393268 CAGE_peak_1_at_MORN4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I097494 97494799 97495999 0.92 [{'connected_gene': 'ZDHHC16', 'score': 11.92}, {'connected_gene': 'RRP12', 'score': 9.92}, {'connected_gene': 'SLIT1', 'score': 7.18}, {'connected_gene': 'MORN4', 'score': 5.37}, {'connected_gene': 'MMS19', 'score': 0.77}]
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 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 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 GH10I097609 97609078 97609230 0.45 [{'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 GH10I097589 97589672 97589731 0.68 [{'connected_gene': 'C10orf62', 'score': 550.77}, {'connected_gene': 'HOGA1', 'score': 0.44}, {'connected_gene': 'ENSG00000249967', 'score': 0.44}, {'connected_gene': 'MORN4', 'score': 0.26}, {'connected_gene': 'GC10M097562', 'score': 0.13}]
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 GH10I097463 97463224 97464973 1.08 [{'connected_gene': 'MORN4', 'score': 6.18}, {'connected_gene': 'ZDHHC16', 'score': 0.37}, {'connected_gene': 'MMS19', 'score': 0.29}]
chr10 GH10I097610 97610716 97612027 0.2 [{'connected_gene': 'MORN4', 'score': 12.9}, {'connected_gene': 'MARVELD1', 'score': 5.53}, {'connected_gene': 'HOGA1', 'score': 4.9}, {'connected_gene': 'C10orf62', 'score': 0.34}, {'connected_gene': 'ENSG00000249967', 'score': 0.31}, {'connected_gene': 'GC10M097562', 'score': 0.15}]
chr10 GH10I097162 97162844 97164147 0.63 [{'connected_gene': 'MORN4', 'score': 4.58}, {'connected_gene': 'GC10M097154', 'score': 0.44}, {'connected_gene': 'SLIT1', 'score': 0.34}, {'connected_gene': 'ARHGAP19-SLIT1', 'score': 0.13}]
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 GH10I097888 97888397 97890471 1.28 [{'connected_gene': 'MORN4', 'score': 13.03}, {'connected_gene': 'CRTAC1', 'score': 4.82}, {'connected_gene': 'PIR47260', 'score': 0.44}, {'connected_gene': 'GC10M097904', 'score': 0.37}]
chr10 GH10I097629 97629731 97629790 0.5 [{'connected_gene': 'MORN4', 'score': 550.77}, {'connected_gene': 'C10orf62', 'score': 11.94}, {'connected_gene': 'HOGA1', 'score': 11.92}, {'connected_gene': 'ENSG00000249967', 'score': 11.92}, {'connected_gene': 'GC10M097562', 'score': 0.18}]
chr10 GH10I097612 97612400 97612801 0.97 [{'connected_gene': 'MORN4', 'score': 0.34}, {'connected_gene': 'C10orf62', 'score': 0.34}, {'connected_gene': 'HOGA1', 'score': 0.31}, {'connected_gene': 'ENSG00000249967', 'score': 0.31}, {'connected_gene': 'GC10M097562', 'score': 0.15}]
chr10 GH10I097632 97632601 97634248 2.01 [{'connected_gene': 'MORN4', 'score': 584.84}, {'connected_gene': 'ANKRD2', 'score': 11.43}, {'connected_gene': 'C10orf62', 'score': 11.29}, {'connected_gene': 'HOGA1', 'score': 11.28}, {'connected_gene': 'ENSG00000249967', 'score': 11.28}, {'connected_gene': 'GC10M097562', 'score': 0.18}]
chr10 GH10I097318 97318158 97322198 2.26 [{'connected_gene': 'FRAT1', 'score': 550.77}, {'connected_gene': 'RPL13AP5', 'score': 15.06}, {'connected_gene': 'ARHGAP19', 'score': 13.82}, {'connected_gene': 'NPM1P26', 'score': 13.46}, {'connected_gene': 'MORN4', 'score': 13.02}, {'connected_gene': 'SLIT1', 'score': 12.68}, {'connected_gene': 'EXOSC1', 'score': 11.57}, {'connected_gene': 'ENSG00000230928', 'score': 10.92}, {'connected_gene': 'LCOR', 'score': 10.68}, {'connected_gene': 'LOXL4', 'score': 10.04}, {'connected_gene': 'R3HCC1L', 'score': 9.98}, {'connected_gene': 'TM9SF3', 'score': 9.95}, {'connected_gene': 'LOC105378448', 'score': 0.39}]
chr10 GH10I096747 96747522 96749125 1.38 [{'connected_gene': 'GC10P096751', 'score': 550.77}, {'connected_gene': 'RPL13AP5', 'score': 550.77}, {'connected_gene': 'PIK3AP1', 'score': 17.81}, {'connected_gene': 'LCOR', 'score': 13.72}, {'connected_gene': 'MIR607', 'score': 11.32}, {'connected_gene': 'MORN4', 'score': 4.49}, {'connected_gene': 'RNU6-1274P', 'score': 0.44}]
chr10 GH10I097421 97421964 97424752 1.08 [{'connected_gene': 'PIR45391', 'score': 550.77}, {'connected_gene': 'GC10M097425', 'score': 550.77}, {'connected_gene': 'MMS19', 'score': 86.49}, {'connected_gene': 'LCOR', 'score': 60.04}, {'connected_gene': 'EXOSC1', 'score': 59.38}, {'connected_gene': 'R3HCC1L', 'score': 45.44}, {'connected_gene': 'NPM1P26', 'score': 31.97}, {'connected_gene': 'TM9SF3', 'score': 23.05}, {'connected_gene': 'RPL13AP5', 'score': 21.76}, {'connected_gene': 'MARVELD1', 'score': 21.58}, {'connected_gene': 'LOXL4', 'score': 20.47}, {'connected_gene': 'ZDHHC16', 'score': 18.47}, {'connected_gene': 'MORN4', 'score': 14.48}, {'connected_gene': 'PYROXD2', 'score': 10.11}, {'connected_gene': 'ENSG00000230928', 'score': 9.74}, {'connected_gene': 'SLIT1', 'score': 7.76}, {'connected_gene': 'RRP12', 'score': 0.77}, {'connected_gene': 'GC10M097416', 'score': 0.77}, {'connected_gene': 'LOC644215', 'score': 0.77}]
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}]