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
ENST00000392894 [[149530494, 149531140], [149563797, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149679926]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678891]]
ENST00000344229 [[149530556, 149531140], [149531711, 149531813], [149563797, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149679909]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678891]]
ENST00000470151 [[149530619, 149530961], [149531711, 149531813], [149563797, 149563927], [149570302, 149570383], [149589815, 149589861]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589861]]
ENST00000466478 [[149530835, 149531140], [149540304, 149540360], [149563797, 149563927], [149570302, 149570383], [149589815, 149589836]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589836]]
ENST00000491086 [[149530990, 149531140], [149570302, 149570383], [149589815, 149589941], [149613259, 149613357], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678803]] [[149613305, 149613357], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678803]]
ENST00000467977 [[149531001, 149531140], [149589815, 149589941], [149613259, 149613357], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678552]] [[149613305, 149613357], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678552]]
ENST00000474348 [[149531014, 149531140], [149563797, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613357], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678620]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613357], [149619858, 149619862]]
ENST00000467996 [[149531051, 149531140], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678537]] [[149613305, 149613347], [149619858, 149619870]]
ENST00000468648 [[149531606, 149531813], [149563797, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613285]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613285]]
ENST00000459632 [[149531623, 149532118], [149563797, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619946]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619946]]
ENST00000466795 [[149535028, 149535108], [149563797, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619939]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619939]]
ENST00000490631 [[149563806, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613357], [149629764, 149629870], [149638920, 149638971]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613357], [149629764, 149629870], [149638920, 149638971]]
ENST00000361785 [[149589859, 149589941], [149613259, 149613357], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149679913]] [[149613305, 149613357], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678891]]
ENST00000482083 [[149613026, 149613061], [149613259, 149613357], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678798]] [[149613305, 149613357], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678798]]
ENST00000468289 [[149629779, 149629870], [149638920, 149639014], [149678526, 149679161]] [[149629779, 149629870], [149638920, 149639014], [149678526, 149678891]]
ENST00000493238 [[149677743, 149677923], [149678526, 149679161]] None
NM_183381 [[149530474, 149531140], [149563797, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149679926]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678891]]
NM_007282 [[149530474, 149531140], [149531711, 149531813], [149563797, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149679926]] [[149563813, 149563927], [149570302, 149570383], [149589815, 149589941], [149613259, 149613347], [149619858, 149619949], [149629764, 149629870], [149638920, 149639014], [149677842, 149677923], [149678526, 149678891]]
Promoter
Chrom Start End Description
chr3 149530431 149530453 CAGE_peak_6_at_RNF13_5end
chr3 149530469 149530547 CAGE_peak_2_at_RNF13_5end
chr3 149530587 149530604 CAGE_peak_5_at_RNF13_5end
chr3 149530983 149531065 CAGE_peak_1_at_RNF13_5end
chr3 149531074 149531086 CAGE_peak_3_at_RNF13_5end
chr3 149531627 149531651 CAGE_peak_7_at_RNF13_5end
chr3 149532072 149532086 CAGE_peak_10_at_RNF13_5end
chr3 149535022 149535031 CAGE_peak_14_at_RNF13_5end
chr3 149535040 149535052 CAGE_peak_11_at_RNF13_5end
chr3 149535068 149535093 CAGE_peak_4_at_RNF13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I150273 150273417 150273791 0.25 [{'connected_gene': 'TSC22D2', 'score': 6.07}, {'connected_gene': 'RNF13', 'score': 2.9}, {'connected_gene': 'SERP1', 'score': 2.15}, {'connected_gene': 'LOC105374154', 'score': 0.77}, {'connected_gene': 'ENSG00000278234', 'score': 0.29}, {'connected_gene': 'LINC01214', 'score': 0.23}]
chr3 GH03I149436 149436212 149436466 0.4 [{'connected_gene': 'TM4SF4', 'score': 11.81}, {'connected_gene': 'RNF13', 'score': 9.63}, {'connected_gene': 'RPL32P8', 'score': 0.77}, {'connected_gene': 'GC03M149445', 'score': 0.44}]
chr3 GH03I149897 149897936 149899649 0.72 [{'connected_gene': 'TMEM183B', 'score': 8.09}, {'connected_gene': 'RNU6-720P', 'score': 0.37}, {'connected_gene': 'ANKUB1', 'score': 0.2}, {'connected_gene': 'RNF13', 'score': 0.17}]
chr3 GH03I149780 149780807 149784832 0.82 [{'connected_gene': 'PFN2', 'score': 14.74}, {'connected_gene': 'RNF13', 'score': 12.93}, {'connected_gene': 'WWTR1', 'score': 10.22}, {'connected_gene': 'WWTR1-AS1', 'score': 9.95}, {'connected_gene': 'TMEM183B', 'score': 5.8}, {'connected_gene': 'RNU6-507P', 'score': 0.77}, {'connected_gene': 'ANKUB1', 'score': 0.09}]
chr3 GH03I149506 149506039 149508799 1.38 [{'connected_gene': 'COMMD2', 'score': 20.54}, {'connected_gene': 'WWTR1', 'score': 19.44}, {'connected_gene': 'TM4SF4', 'score': 11.88}, {'connected_gene': 'WWTR1-AS1', 'score': 10.31}, {'connected_gene': 'RNF13', 'score': 3.91}, {'connected_gene': 'LOC100421817', 'score': 0.39}, {'connected_gene': 'RNU6-1098P', 'score': 0.37}]
chr3 GH03I149947 149947227 149947423 0.26 [{'connected_gene': 'ANKUB1', 'score': 12.02}, {'connected_gene': 'ENSG00000242791', 'score': 12.0}, {'connected_gene': 'PFN2', 'score': 11.83}, {'connected_gene': 'NPM1P29', 'score': 0.44}, {'connected_gene': 'LOC105374152', 'score': 0.39}, {'connected_gene': 'RNF13', 'score': 0.12}]
chr3 GH03I149793 149792544 149792603 0.5 [{'connected_gene': 'ANKUB1', 'score': 550.1}, {'connected_gene': 'COMMD2', 'score': 10.88}, {'connected_gene': 'RNU6-507P', 'score': 0.39}, {'connected_gene': 'RNF13', 'score': 0.37}]
chr3 GH03I149792 149792855 149792914 0.61 [{'connected_gene': 'ANKUB1', 'score': 550.1}, {'connected_gene': 'WWTR1', 'score': 10.65}, {'connected_gene': 'RNU6-507P', 'score': 0.39}, {'connected_gene': 'RNF13', 'score': 0.37}]
chr3 GH03I149811 149811919 149817803 2.33 [{'connected_gene': 'RNF13', 'score': 573.49}, {'connected_gene': 'PFN2', 'score': 25.26}, {'connected_gene': 'COMMD2', 'score': 16.93}, {'connected_gene': 'TSC22D2', 'score': 11.2}, {'connected_gene': 'TMEM183B', 'score': 7.36}, {'connected_gene': 'RNU6-720P', 'score': 0.15}, {'connected_gene': 'ANKUB1', 'score': 0.1}]
chr3 GH03I149808 149808200 149808600 0.88 [{'connected_gene': 'RNF13', 'score': 0.77}, {'connected_gene': 'RNU6-507P', 'score': 0.31}, {'connected_gene': 'ANKUB1', 'score': 0.1}]
chr3 GH03I149809 149809819 149810111 0.53 [{'connected_gene': 'RNF13', 'score': 19.53}, {'connected_gene': 'RNU6-507P', 'score': 0.29}, {'connected_gene': 'ANKUB1', 'score': 0.1}]
chr3 GH03I149874 149874536 149874851 0.22 [{'connected_gene': 'RNF13', 'score': 17.63}, {'connected_gene': 'RNU6-720P', 'score': 0.26}, {'connected_gene': 'ANKUB1', 'score': 0.16}]
chr3 GH03I149848 149848389 149848445 0.25 [{'connected_gene': 'RNF13', 'score': 15.2}, {'connected_gene': 'RNU6-720P', 'score': 0.2}, {'connected_gene': 'ANKUB1', 'score': 0.13}]
chr3 GH03I149845 149845734 149845883 0.74 [{'connected_gene': 'RNF13', 'score': 0.29}, {'connected_gene': 'RNU6-720P', 'score': 0.19}, {'connected_gene': 'ANKUB1', 'score': 0.13}]
chr3 GH03I149958 149958499 149958861 0.4 [{'connected_gene': 'LOC105374152', 'score': 550.77}, {'connected_gene': 'TM4SF4', 'score': 2.5}, {'connected_gene': 'ANKUB1', 'score': 0.44}, {'connected_gene': 'NPM1P29', 'score': 0.37}, {'connected_gene': 'RNF13', 'score': 0.11}]
chr3 GH03I149950 149950526 149950855 0.24 [{'connected_gene': 'LOC105374152', 'score': 0.44}, {'connected_gene': 'NPM1P29', 'score': 0.39}, {'connected_gene': 'ANKUB1', 'score': 0.37}, {'connected_gene': 'RNF13', 'score': 0.12}]
chr3 GH03I149939 149939526 149940063 0.29 [{'connected_gene': 'NPM1P29', 'score': 550.77}, {'connected_gene': 'TSC22D2', 'score': 2.14}, {'connected_gene': 'RNF13', 'score': 1.54}, {'connected_gene': 'RNU6-720P', 'score': 0.34}, {'connected_gene': 'ANKUB1', 'score': 0.31}]
chr3 GH03I149936 149936894 149937200 0.82 [{'connected_gene': 'NPM1P29', 'score': 0.77}, {'connected_gene': 'RNU6-720P', 'score': 0.37}, {'connected_gene': 'ANKUB1', 'score': 0.29}, {'connected_gene': 'RNF13', 'score': 0.13}]
chr3 GH03I149462 149462866 149463049 0.48 [{'connected_gene': 'ENSG00000241929', 'score': 550.77}, {'connected_gene': 'FKBP1AP4', 'score': 550.77}, {'connected_gene': 'TM4SF1-AS1', 'score': 10.51}, {'connected_gene': 'TM4SF1', 'score': 10.51}, {'connected_gene': 'RNF13', 'score': 5.85}, {'connected_gene': 'GC03M149445', 'score': 0.37}]

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