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
ENST00000210444 [[100819020, 100819222], [100823063, 100823279], [100839199, 100839299], [100840474, 100840629], [100843097, 100843364], [100845127, 100845357]] [[100819090, 100819222], [100823063, 100823279], [100839199, 100839299], [100840474, 100840629], [100843097, 100843364], [100845127, 100845337]]
ENST00000495319 [[100819049, 100819222], [100823063, 100823279], [100837851, 100838014], [100839199, 100839299], [100840474, 100840586]] None
ENST00000480925 [[100819051, 100819222], [100823063, 100823541]] None
ENST00000461452 [[100836924, 100839299], [100840474, 100840629], [100843097, 100843364], [100845127, 100845357]] None
ENST00000415280 [[100839110, 100839299], [100840343, 100840629], [100843097, 100843337]] [[100840449, 100840629], [100843097, 100843337]]
ENST00000427646 [[100840602, 100840629], [100843097, 100844448]] [[100840602, 100840629], [100843097, 100843418]]
NM_018946 [[100818958, 100819222], [100823063, 100823279], [100839199, 100839299], [100840474, 100840629], [100843097, 100843364], [100845127, 100845365]] [[100819090, 100819222], [100823063, 100823279], [100839199, 100839299], [100840474, 100840629], [100843097, 100843364], [100845127, 100845337]]
Promoter
Chrom Start End Description
chr9 100807847 100807893 CAGE_peak_2_at_NANS_5end
chr9 100818976 100819033 CAGE_peak_1_at_NANS_5end
chr9 100819048 100819059 CAGE_peak_3_at_NANS_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I098141 98141738 98148136 1.59 [{'connected_gene': 'TRIM14', 'score': 12.04}, {'connected_gene': 'CORO2A', 'score': 11.75}, {'connected_gene': 'TBC1D2', 'score': 10.9}, {'connected_gene': 'NANS', 'score': 4.18}, {'connected_gene': 'PIR60537', 'score': 0.44}]
chr9 GH09I098070 98070871 98076600 1.29 [{'connected_gene': 'TRIM14', 'score': 20.43}, {'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'RNU6-918P', 'score': 11.46}, {'connected_gene': 'CORO2A', 'score': 11.43}, {'connected_gene': 'TSTD2', 'score': 10.7}, {'connected_gene': 'HEMGN', 'score': 10.56}, {'connected_gene': 'NANS', 'score': 9.03}, {'connected_gene': 'PIR35853', 'score': 0.39}, {'connected_gene': 'GC09M098254', 'score': 0.39}, {'connected_gene': 'GC09M098251', 'score': 0.39}]
chr9 GH09I098091 98091801 98093121 0.6 [{'connected_gene': 'TRIM14', 'score': 8.81}, {'connected_gene': 'NANS', 'score': 6.57}, {'connected_gene': 'PIR57415', 'score': 0.44}, {'connected_gene': 'GC09M098247', 'score': 0.44}, {'connected_gene': 'ENSG00000274011', 'score': 0.34}]
chr9 GH09I098061 98061796 98062564 0.2 [{'connected_gene': 'TRIM14', 'score': 8.41}, {'connected_gene': 'NANS', 'score': 6.4}, {'connected_gene': 'GC09M098254', 'score': 0.34}, {'connected_gene': 'GC09M098251', 'score': 0.34}, {'connected_gene': 'PIR35853', 'score': 0.34}]
chr9 GH09I098240 98240298 98242537 1.52 [{'connected_gene': 'TBC1D2', 'score': 41.35}, {'connected_gene': 'TRIM14', 'score': 10.15}, {'connected_gene': 'CORO2A', 'score': 4.52}, {'connected_gene': 'NANS', 'score': 3.34}, {'connected_gene': 'TRMO', 'score': 2.13}, {'connected_gene': 'LOC100131625', 'score': 0.44}]
chr9 GH09I098076 98076619 98076828 0.4 [{'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'TRIM14', 'score': 11.56}, {'connected_gene': 'RNU6-918P', 'score': 11.46}, {'connected_gene': 'CORO2A', 'score': 11.43}, {'connected_gene': 'HEMGN', 'score': 10.55}, {'connected_gene': 'GC09M098254', 'score': 0.44}, {'connected_gene': 'GC09M098251', 'score': 0.44}, {'connected_gene': 'PIR35853', 'score': 0.44}, {'connected_gene': 'NANS', 'score': 0.34}]
chr9 GH09I098078 98078833 98079216 0.75 [{'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'TRIM14', 'score': 11.56}, {'connected_gene': 'RNU6-918P', 'score': 11.45}, {'connected_gene': 'CORO2A', 'score': 11.44}, {'connected_gene': 'HEMGN', 'score': 10.55}, {'connected_gene': 'TRMO', 'score': 1.75}, {'connected_gene': 'PIR35853', 'score': 0.44}, {'connected_gene': 'GC09M098254', 'score': 0.44}, {'connected_gene': 'GC09M098251', 'score': 0.44}, {'connected_gene': 'NANS', 'score': 0.34}]
chr9 GH09I098246 98246325 98257283 2.85 [{'connected_gene': 'TBC1D2', 'score': 593.93}, {'connected_gene': 'CORO2A', 'score': 10.2}, {'connected_gene': 'TGFBR1', 'score': 9.98}, {'connected_gene': 'NANS', 'score': 5.49}, {'connected_gene': 'TRMO', 'score': 3.94}, {'connected_gene': 'LOC100131625', 'score': 0.37}]
chr9 GH09I098065 98065635 98066823 0.69 [{'connected_gene': 'NANS', 'score': 9.18}, {'connected_gene': 'TRIM14', 'score': 8.35}, {'connected_gene': 'GC09M098254', 'score': 0.37}, {'connected_gene': 'GC09M098251', 'score': 0.37}, {'connected_gene': 'PIR35853', 'score': 0.37}]
chr9 GH09I098094 98094017 98095141 0.2 [{'connected_gene': 'NANS', 'score': 14.78}, {'connected_gene': 'PIR57415', 'score': 0.44}, {'connected_gene': 'GC09M098247', 'score': 0.44}, {'connected_gene': 'ENSG00000274011', 'score': 0.34}, {'connected_gene': 'TRIM14', 'score': 0.34}]
chr9 GH09I098018 98018978 98020540 0.38 [{'connected_gene': 'NANS', 'score': 7.28}, {'connected_gene': 'TRMO', 'score': 5.88}, {'connected_gene': 'TRIM14', 'score': 4.62}, {'connected_gene': 'GC09P098033', 'score': 0.39}, {'connected_gene': 'ENSG00000236896', 'score': 0.29}]
chr9 GH09I098034 98034491 98038000 1.01 [{'connected_gene': 'NANS', 'score': 24.64}, {'connected_gene': 'TRMO', 'score': 17.67}, {'connected_gene': 'ENSG00000236896', 'score': 12.07}, {'connected_gene': 'ANP32B', 'score': 12.06}, {'connected_gene': 'ENSG00000201830', 'score': 11.87}, {'connected_gene': 'TBC1D2', 'score': 10.52}, {'connected_gene': 'TSTD2', 'score': 4.6}, {'connected_gene': 'RNU6-918P', 'score': 0.77}]
chr9 GH09I098055 98055850 98058322 2.22 [{'connected_gene': 'NANS', 'score': 559.6}, {'connected_gene': 'NCBP1', 'score': 14.35}, {'connected_gene': 'TSTD2', 'score': 12.89}, {'connected_gene': 'TRIM14', 'score': 7.01}, {'connected_gene': 'GC09M098254', 'score': 0.31}, {'connected_gene': 'GC09M098251', 'score': 0.31}, {'connected_gene': 'PIR35853', 'score': 0.31}]
chr9 GH09I098097 98097374 98110701 1.47 [{'connected_gene': 'NANS', 'score': 14.92}, {'connected_gene': 'ANKS6', 'score': 11.39}, {'connected_gene': 'TBC1D2', 'score': 11.13}, {'connected_gene': 'CCDC180', 'score': 10.6}, {'connected_gene': 'TRIM14', 'score': 9.15}, {'connected_gene': 'TRMO', 'score': 4.56}, {'connected_gene': 'ENSG00000274011', 'score': 0.39}, {'connected_gene': 'PIR57415', 'score': 0.37}, {'connected_gene': 'GC09M098247', 'score': 0.37}]
chr9 GH09I098044 98044674 98046654 1.14 [{'connected_gene': 'NANS', 'score': 6.43}, {'connected_gene': 'RNU6-918P', 'score': 0.39}]
chr9 GH09I098046 98046801 98047000 0.6 [{'connected_gene': 'NANS', 'score': 18.66}, {'connected_gene': 'ENSG00000236896', 'score': 11.65}, {'connected_gene': 'ANP32B', 'score': 11.64}, {'connected_gene': 'TBC1D2', 'score': 10.76}, {'connected_gene': 'TRIM14', 'score': 9.96}, {'connected_gene': 'RNU6-918P', 'score': 0.39}]
chr9 GH09I097990 97989432 97991108 0.85 [{'connected_gene': 'NANS', 'score': 6.01}, {'connected_gene': 'ENSG00000236896', 'score': 0.77}, {'connected_gene': 'ANP32B', 'score': 0.44}, {'connected_gene': 'GC09P098033', 'score': 0.26}]
chr9 GH09I098026 98026104 98026546 0.22 [{'connected_gene': 'NANS', 'score': 26.6}, {'connected_gene': 'GC09P098033', 'score': 0.44}, {'connected_gene': 'ENSG00000236896', 'score': 0.28}]
chr9 GH09I098064 98064497 98065381 0.43 [{'connected_gene': 'NANS', 'score': 0.44}, {'connected_gene': 'GC09M098254', 'score': 0.37}, {'connected_gene': 'GC09M098251', 'score': 0.37}, {'connected_gene': 'PIR35853', 'score': 0.37}]
chr9 GH09I098058 98058426 98059488 0.85 [{'connected_gene': 'NANS', 'score': 9.9}, {'connected_gene': 'GC09M098254', 'score': 0.31}, {'connected_gene': 'GC09M098251', 'score': 0.31}, {'connected_gene': 'PIR35853', 'score': 0.31}]
chr9 GH09I098059 98059741 98060126 0.2 [{'connected_gene': 'NANS', 'score': 0.77}, {'connected_gene': 'GC09M098254', 'score': 0.34}, {'connected_gene': 'GC09M098251', 'score': 0.34}, {'connected_gene': 'PIR35853', 'score': 0.34}]
chr9 GH09I097925 97925324 97926417 0.52 [{'connected_gene': 'TRMO', 'score': 21.42}, {'connected_gene': 'ANP32B', 'score': 12.5}, {'connected_gene': 'ENSG00000236896', 'score': 12.49}, {'connected_gene': 'RNU6-918P', 'score': 12.01}, {'connected_gene': 'TRIM14', 'score': 10.52}, {'connected_gene': 'TBC1D2', 'score': 10.41}, {'connected_gene': 'NANS', 'score': 6.36}, {'connected_gene': 'HEMGN', 'score': 0.37}]
chr9 GH09I097997 97997501 97998493 0.31 [{'connected_gene': 'RNU6-918P', 'score': 12.46}, {'connected_gene': 'NANS', 'score': 7.24}, {'connected_gene': 'ANP32B', 'score': 0.39}, {'connected_gene': 'ENSG00000236896', 'score': 0.39}, {'connected_gene': 'GC09P098033', 'score': 0.29}]
chr9 GH09I097979 97979663 97987948 2.52 [{'connected_gene': 'ANP32B', 'score': 550.77}, {'connected_gene': 'NANS', 'score': 26.5}, {'connected_gene': 'NCBP1', 'score': 23.23}, {'connected_gene': 'MFSD14C', 'score': 22.18}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'TSTD2', 'score': 16.66}, {'connected_gene': 'ZNF322P1', 'score': 13.55}, {'connected_gene': 'ENSG00000254633', 'score': 12.0}, {'connected_gene': 'XPA', 'score': 10.81}, {'connected_gene': 'TRMO', 'score': 6.22}, {'connected_gene': 'TRIM14', 'score': 4.69}, {'connected_gene': 'ENSG00000236896', 'score': 0.77}]
chr9 GH09I098080 98080479 98084008 1.02 [{'connected_gene': 'GC09M098254', 'score': 550.77}, {'connected_gene': 'GC09M098251', 'score': 550.77}, {'connected_gene': 'PIR35853', 'score': 550.77}, {'connected_gene': 'TRIM14', 'score': 20.6}, {'connected_gene': 'TBC1D2', 'score': 11.32}, {'connected_gene': 'NANS', 'score': 9.12}]
chr9 GH09I098087 98087118 98088119 1.16 [{'connected_gene': 'PIR34252', 'score': 550.77}, {'connected_gene': 'GC09M098242', 'score': 550.77}, {'connected_gene': 'PIR62444', 'score': 550.77}, {'connected_gene': 'PIR57415', 'score': 550.77}, {'connected_gene': 'GC09M098247', 'score': 550.77}, {'connected_gene': 'PIR58120', 'score': 550.77}, {'connected_gene': 'GC09M098248', 'score': 550.77}, {'connected_gene': 'PIR55282', 'score': 550.77}, {'connected_gene': 'PIR60387', 'score': 550.77}, {'connected_gene': 'GC09M098249', 'score': 550.77}, {'connected_gene': 'GC09M098241', 'score': 550.77}, {'connected_gene': 'GC09M098237', 'score': 550.77}, {'connected_gene': 'GC09M098238', 'score': 550.77}, {'connected_gene': 'PIR44339', 'score': 550.77}, {'connected_gene': 'GC09M098245', 'score': 550.77}, {'connected_gene': 'GC09M098243', 'score': 550.77}, {'connected_gene': 'GC09M098253', 'score': 550.77}, {'connected_gene': 'PIR53250', 'score': 550.77}, {'connected_gene': 'PIR35660', 'score': 550.77}, {'connected_gene': 'PIR62042', 'score': 550.77}, {'connected_gene': 'GC09M098250', 'score': 550.77}, {'connected_gene': 'GC09M098252', 'score': 550.77}, {'connected_gene': 'PIR55612', 'score': 550.77}, {'connected_gene': 'GC09M098223', 'score': 550.77}, {'connected_gene': 'GC09M098246', 'score': 550.77}, {'connected_gene': 'PIR60855', 'score': 550.77}, {'connected_gene': 'ZNF322P1', 'score': 13.51}, {'connected_gene': 'ENSG00000254633', 'score': 13.17}, {'connected_gene': 'NCBP1', 'score': 12.2}, {'connected_gene': 'TRIM14', 'score': 11.88}, {'connected_gene': 'TBC1D2', 'score': 11.33}, {'connected_gene': 'CCDC180', 'score': 10.63}, {'connected_gene': 'NANS', 'score': 8.36}, {'connected_gene': 'ENSG00000274011', 'score': 0.31}]
chr9 GH09I098031 98031844 98032728 0.38 [{'connected_gene': 'GC09P098033', 'score': 550.77}, {'connected_gene': 'RNU6-918P', 'score': 550.77}, {'connected_gene': 'ENSG00000236896', 'score': 12.09}, {'connected_gene': 'ANP32B', 'score': 12.07}, {'connected_gene': 'TRMO', 'score': 11.88}, {'connected_gene': 'ENSG00000201830', 'score': 11.87}, {'connected_gene': 'TBC1D2', 'score': 10.51}, {'connected_gene': 'NANS', 'score': 0.34}]
chr9 GH09I098047 98047139 98047288 0.72 [{'connected_gene': 'ENSG00000236896', 'score': 11.65}, {'connected_gene': 'ANP32B', 'score': 11.64}, {'connected_gene': 'TBC1D2', 'score': 10.76}, {'connected_gene': 'TRIM14', 'score': 9.96}, {'connected_gene': 'NANS', 'score': 0.44}, {'connected_gene': 'RNU6-918P', 'score': 0.39}]

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