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
ENST00000307518 [[99332197, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343616]] [[99332464, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343482]]
ENST00000298808 [[99332197, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343616]] [[99332464, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343482]]
ENST00000370655 [[99332255, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343641]] [[99332545, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343482]]
ENST00000455090 [[99332535, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343641]] [[99332545, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343482]]
NM_001291219 [[99332197, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343641]] [[99332206, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343482]]
NM_001129981 [[99332197, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343641]] [[99332464, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343482]]
NM_001291218 [[99332197, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343641]] [[99332206, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343482]]
NM_020349 [[99332197, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343641]] [[99332464, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343482]]
NM_001346797 [[99332197, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343653]] [[99332545, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342360, 99342459], [99343332, 99343482]]
NM_001346793 [[99332197, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343653]] [[99332545, 99332632], [99337556, 99337658], [99337996, 99338155], [99338254, 99338362], [99340611, 99340710], [99341072, 99341171], [99342071, 99342170], [99342360, 99342459], [99343332, 99343482]]
Promoter
Chrom Start End Description
chr10 99332251 99332281 CAGE_peak_2_at_ANKRD2_5end
chr10 99332290 99332304 CAGE_peak_3_at_ANKRD2_5end
chr10 99332315 99332329 CAGE_peak_4_at_ANKRD2_5end
chr10 99332529 99332543 CAGE_peak_1_at_ANKRD2_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 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 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 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 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 GH10I097583 97583535 97585456 1.78 [{'connected_gene': 'HOGA1', 'score': 588.99}, {'connected_gene': 'ENSG00000249967', 'score': 550.77}, {'connected_gene': 'C10orf62', 'score': 0.44}, {'connected_gene': 'ANKRD2', 'score': 0.39}, {'connected_gene': 'GC10M097562', 'score': 0.12}]
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 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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