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
ENST00000591247 [[42112002, 42113668], [42114779, 42114906], [42117514, 42117624], [42141168, 42141302], [42143831, 42144101], [42144810, 42144987]] [[42113575, 42113668], [42114779, 42114906], [42117514, 42117624], [42141168, 42141302], [42143831, 42143955]]
ENST00000293406 [[42112003, 42113668], [42114779, 42114906], [42117514, 42117624], [42141168, 42141302], [42143831, 42144103]] [[42113575, 42113668], [42114779, 42114906], [42117514, 42117624], [42141168, 42141302], [42143831, 42143955]]
ENST00000590563 [[42113430, 42113668], [42114779, 42114906], [42117514, 42117708]] None
ENST00000585388 [[42113534, 42113668], [42114229, 42114470], [42114779, 42114906], [42117514, 42117624], [42141168, 42141302], [42143831, 42144027]] [[42114272, 42114470], [42114779, 42114906], [42117514, 42117624], [42141168, 42141302], [42143831, 42143955]]
NM_152344 [[42112002, 42113668], [42114779, 42114906], [42117514, 42117624], [42141168, 42141302], [42143831, 42144101], [42144810, 42144987]] [[42113575, 42113668], [42114779, 42114906], [42117514, 42117624], [42141168, 42141302], [42143831, 42143955]]
Promoter
Chrom Start End Description
chr17 42143963 42144057 CAGE_peak_1_at_LSM12_5end
chr17 42144949 42144956 CAGE_peak_3_at_LSM12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I044094 44094864 44098942 1.73 [{'connected_gene': 'ASB16', 'score': 23.87}, {'connected_gene': 'G6PC3', 'score': 22.82}, {'connected_gene': 'TMEM101', 'score': 21.63}, {'connected_gene': 'ASB16-AS1', 'score': 12.98}, {'connected_gene': 'LSM12', 'score': 12.44}, {'connected_gene': 'RNU6-131P', 'score': 12.16}, {'connected_gene': 'C17orf53', 'score': 12.13}, {'connected_gene': 'HDAC5', 'score': 11.93}, {'connected_gene': 'ENSG00000221044', 'score': 11.02}, {'connected_gene': 'PYY', 'score': 10.67}, {'connected_gene': 'NAGS', 'score': 10.64}, {'connected_gene': 'PIR35706', 'score': 0.77}, {'connected_gene': 'GC17P044094', 'score': 0.77}, {'connected_gene': 'LOC105371789', 'score': 0.39}]
chr17 GH17I044049 44049288 44050522 0.43 [{'connected_gene': 'G6PC3', 'score': 22.55}, {'connected_gene': 'TMEM101', 'score': 17.7}, {'connected_gene': 'ENSG00000221044', 'score': 12.45}, {'connected_gene': 'PPY', 'score': 11.52}, {'connected_gene': 'PYY', 'score': 11.33}, {'connected_gene': 'NAGS', 'score': 11.26}, {'connected_gene': 'ASB16', 'score': 10.54}, {'connected_gene': 'GC17P044038', 'score': 0.39}, {'connected_gene': 'LSM12', 'score': 0.37}]
chr17 GH17I043897 43897122 43897500 0.23 [{'connected_gene': 'TMEM101', 'score': 10.69}, {'connected_gene': 'ENSG00000221044', 'score': 9.73}, {'connected_gene': 'MPP2', 'score': 7.49}, {'connected_gene': 'LSM12', 'score': 2.14}, {'connected_gene': 'GC17P043880', 'score': 0.37}]
chr17 GH17I045059 45059307 45064185 2.3 [{'connected_gene': 'DCAKD', 'score': 574.62}, {'connected_gene': 'PIR53442', 'score': 550.77}, {'connected_gene': 'NMT1', 'score': 550.39}, {'connected_gene': 'ENSG00000262372', 'score': 26.54}, {'connected_gene': 'ASB16-AS1', 'score': 24.33}, {'connected_gene': 'TMUB2', 'score': 20.59}, {'connected_gene': 'UBTF', 'score': 14.83}, {'connected_gene': 'C17orf53', 'score': 12.86}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.08}, {'connected_gene': 'LSM12', 'score': 11.78}, {'connected_gene': 'ENSG00000224505', 'score': 11.4}, {'connected_gene': 'GFAP', 'score': 11.08}, {'connected_gene': 'ENSG00000267344', 'score': 10.95}, {'connected_gene': 'C1QL1', 'score': 10.62}, {'connected_gene': 'EFTUD2', 'score': 10.51}, {'connected_gene': 'HEXIM2', 'score': 9.8}, {'connected_gene': 'PLCD3', 'score': 9.33}, {'connected_gene': 'GC17P045072', 'score': 0.44}]
chr17 GH17I043860 43860931 43861301 0.61 [{'connected_gene': 'MPP2', 'score': 3.07}, {'connected_gene': 'CD300LG', 'score': 1.85}, {'connected_gene': 'MPP3', 'score': 1.66}, {'connected_gene': 'CFAP97D1', 'score': 1.4}, {'connected_gene': 'LSM12', 'score': 1.19}, {'connected_gene': 'GC17P043880', 'score': 0.37}]
chr17 GH17I044039 44039766 44042076 1 [{'connected_gene': 'MPP2', 'score': 5.86}, {'connected_gene': 'GC17P044038', 'score': 0.44}, {'connected_gene': 'LSM12', 'score': 0.31}]
chr17 GH17I043168 43168557 43173575 2.52 [{'connected_gene': 'NBR1', 'score': 572.55}, {'connected_gene': 'ENSG00000267340', 'score': 550.77}, {'connected_gene': 'ENSG00000267002', 'score': 550.77}, {'connected_gene': 'BRCA1P1', 'score': 550.77}, {'connected_gene': 'BRCA1', 'score': 550.77}, {'connected_gene': 'PIR60622', 'score': 550.77}, {'connected_gene': 'LOC101929767', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 82.75}, {'connected_gene': 'TMEM106A', 'score': 22.43}, {'connected_gene': 'C17orf53', 'score': 12.86}, {'connected_gene': 'LSM12', 'score': 11.78}, {'connected_gene': 'LINC00854', 'score': 11.77}, {'connected_gene': 'CNTD1', 'score': 10.29}, {'connected_gene': 'DHX8', 'score': 10.18}, {'connected_gene': 'PLEKHH3', 'score': 10.16}]
chr17 GH17I044101 44101425 44113884 1.98 [{'connected_gene': 'ASB16-AS1', 'score': 28.84}, {'connected_gene': 'ASB16', 'score': 24.11}, {'connected_gene': 'NAGS', 'score': 20.57}, {'connected_gene': 'G6PC3', 'score': 20.48}, {'connected_gene': 'HMGN1P29', 'score': 18.09}, {'connected_gene': 'LINC00910', 'score': 17.36}, {'connected_gene': 'C17orf53', 'score': 16.08}, {'connected_gene': 'ENSG00000267002', 'score': 15.91}, {'connected_gene': 'DHX8', 'score': 15.28}, {'connected_gene': 'TMUB2', 'score': 14.09}, {'connected_gene': 'ENSG00000267340', 'score': 13.58}, {'connected_gene': 'LSM12', 'score': 11.95}, {'connected_gene': 'RNU6-131P', 'score': 11.51}, {'connected_gene': 'TMEM106A', 'score': 10.82}, {'connected_gene': 'PPY', 'score': 10.78}, {'connected_gene': 'PYY', 'score': 10.71}, {'connected_gene': 'ENSG00000221044', 'score': 10.71}, {'connected_gene': 'NBR2', 'score': 9.9}, {'connected_gene': 'RPL29P31', 'score': 5.08}, {'connected_gene': 'LOC105371789', 'score': 0.77}, {'connected_gene': 'PIR35706', 'score': 0.39}, {'connected_gene': 'GC17P044094', 'score': 0.39}, {'connected_gene': 'HDAC5', 'score': 0.37}]
chr17 GH17I044344 44344432 44349883 2.56 [{'connected_gene': 'GRN', 'score': 559.57}, {'connected_gene': 'UBTF', 'score': 25.03}, {'connected_gene': 'SLC25A39', 'score': 15.37}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'C17orf53', 'score': 12.91}, {'connected_gene': 'RUNDC3A-AS1', 'score': 12.72}, {'connected_gene': 'TMUB2', 'score': 12.6}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.02}, {'connected_gene': 'LSM12', 'score': 11.82}, {'connected_gene': 'RUNDC3A', 'score': 11.39}, {'connected_gene': 'ENSG00000221496', 'score': 11.38}, {'connected_gene': 'RNU6-453P', 'score': 11.38}, {'connected_gene': 'ASB16-AS1', 'score': 11.37}, {'connected_gene': 'ITGA2B', 'score': 11.3}, {'connected_gene': 'ENSG00000224505', 'score': 11.27}, {'connected_gene': 'SLC4A1', 'score': 11.03}, {'connected_gene': 'CD300LG', 'score': 10.56}, {'connected_gene': 'EFTUD2', 'score': 10.44}, {'connected_gene': 'DHX8', 'score': 10.15}, {'connected_gene': 'HEXIM2', 'score': 9.68}, {'connected_gene': 'GC17P044353', 'score': 0.44}, {'connected_gene': 'GC17P044352', 'score': 0.44}]
chr17 GH17I044038 44038176 44039257 0.49 [{'connected_gene': 'NAGS', 'score': 11.92}, {'connected_gene': 'ASB16-AS1', 'score': 7.79}, {'connected_gene': 'TMEM101', 'score': 4.35}, {'connected_gene': 'GC17P044038', 'score': 0.77}, {'connected_gene': 'LSM12', 'score': 0.31}]
chr17 GH17I044042 44042895 44044486 0.69 [{'connected_gene': 'LSM12', 'score': 11.5}, {'connected_gene': 'G6PC3', 'score': 11.47}, {'connected_gene': 'PPY', 'score': 10.78}, {'connected_gene': 'GC17P044038', 'score': 0.44}]
chr17 GH17I044065 44065396 44068161 2.04 [{'connected_gene': 'LSM12', 'score': 550.77}, {'connected_gene': 'ASB16-AS1', 'score': 16.17}, {'connected_gene': 'ENSG00000267002', 'score': 15.91}, {'connected_gene': 'UBTF', 'score': 15.25}, {'connected_gene': 'HMGN1P29', 'score': 13.87}, {'connected_gene': 'ENSG00000267340', 'score': 13.59}, {'connected_gene': 'DHX8', 'score': 12.9}, {'connected_gene': 'NAGS', 'score': 11.86}, {'connected_gene': 'TMUB2', 'score': 11.33}, {'connected_gene': 'GC17P044038', 'score': 0.29}]
chr17 GH17I043926 43926831 43929584 1.06 [{'connected_gene': 'LOC105371788', 'score': 550.77}, {'connected_gene': 'LRRC37A10P', 'score': 550.77}, {'connected_gene': 'LOC102724183', 'score': 550.77}, {'connected_gene': 'LSM12', 'score': 24.38}, {'connected_gene': 'CFAP97D1', 'score': 23.78}, {'connected_gene': 'MPP2', 'score': 20.86}, {'connected_gene': 'NAGS', 'score': 11.17}, {'connected_gene': 'PYY', 'score': 11.14}, {'connected_gene': 'ENSG00000221044', 'score': 10.98}, {'connected_gene': 'CD300LG', 'score': 1.81}, {'connected_gene': 'LINC01976', 'score': 0.39}]
chr17 GH17I044092 44092949 44094104 0.31 [{'connected_gene': 'PIR35706', 'score': 550.77}, {'connected_gene': 'GC17P044094', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 21.73}, {'connected_gene': 'TMEM101', 'score': 21.56}, {'connected_gene': 'G6PC3', 'score': 12.47}, {'connected_gene': 'LSM12', 'score': 12.44}, {'connected_gene': 'HDAC5', 'score': 11.89}, {'connected_gene': 'RNU6-131P', 'score': 11.61}, {'connected_gene': 'C17orf53', 'score': 11.59}, {'connected_gene': 'ENSG00000221044', 'score': 10.91}, {'connected_gene': 'LOC105371789', 'score': 0.37}]
chr17 GH17I044053 44053213 44053322 0.38 [{'connected_gene': 'ENSG00000221044', 'score': 11.91}, {'connected_gene': 'ASB16', 'score': 10.54}, {'connected_gene': 'LSM12', 'score': 0.39}, {'connected_gene': 'GC17P044038', 'score': 0.37}]
chr17 GH17I043322 43322342 43323983 1.54 [{'connected_gene': 'ENSG00000267340', 'score': 256.33}, {'connected_gene': 'UBTF', 'score': 244.63}, {'connected_gene': 'ASB16-AS1', 'score': 222.28}, {'connected_gene': 'ENSG00000267002', 'score': 201.04}, {'connected_gene': 'DHX8', 'score': 168.46}, {'connected_gene': 'HMGN1P29', 'score': 157.52}, {'connected_gene': 'TMUB2', 'score': 138.71}, {'connected_gene': 'NBR2', 'score': 107.3}, {'connected_gene': 'LINC00910', 'score': 86.65}, {'connected_gene': 'PLEKHH3', 'score': 86.41}, {'connected_gene': 'CCR10', 'score': 82.17}, {'connected_gene': 'LOC108783654', 'score': 67.26}, {'connected_gene': 'ENSG00000267765', 'score': 62.78}, {'connected_gene': 'RETREG3', 'score': 58.84}, {'connected_gene': 'HSD17B1', 'score': 58.15}, {'connected_gene': 'CNTNAP1', 'score': 43.2}, {'connected_gene': 'RPL27', 'score': 37.87}, {'connected_gene': 'CNTD1', 'score': 33.66}, {'connected_gene': 'CAVIN1', 'score': 31.49}, {'connected_gene': 'HSD17B1P1', 'score': 29.64}, {'connected_gene': 'C17orf53', 'score': 29.35}, {'connected_gene': 'HMGN2P15', 'score': 29.13}, {'connected_gene': 'NAGLU', 'score': 26.69}, {'connected_gene': 'MPP2', 'score': 22.42}, {'connected_gene': 'NBR1', 'score': 21.89}, {'connected_gene': 'TUBG2', 'score': 19.96}, {'connected_gene': 'ENSG00000260793', 'score': 14.42}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RAMP2-AS1', 'score': 12.32}, {'connected_gene': 'LINC00854', 'score': 12.02}, {'connected_gene': 'VAT1', 'score': 11.98}, {'connected_gene': 'LSM12', 'score': 11.78}, {'connected_gene': 'TMEM106A', 'score': 10.93}, {'connected_gene': 'COASY', 'score': 10.47}, {'connected_gene': 'ENSG00000267632', 'score': 10.3}, {'connected_gene': 'RND2', 'score': 9.98}, {'connected_gene': 'AARSD1', 'score': 9.97}, {'connected_gene': 'PSME3', 'score': 9.76}, {'connected_gene': 'GC17P043558', 'score': 0.28}]
chr17 GH17I044024 44024263 44024665 0.39 [{'connected_gene': 'ENSG00000221044', 'score': 550.77}, {'connected_gene': 'PYY', 'score': 550.77}, {'connected_gene': 'TMEM101', 'score': 550.77}, {'connected_gene': 'CFAP97D1', 'score': 25.15}, {'connected_gene': 'LSM12', 'score': 25.14}, {'connected_gene': 'NAGS', 'score': 12.22}, {'connected_gene': 'CD300LG', 'score': 1.85}, {'connected_gene': 'GC17P043983', 'score': 0.26}]

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