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
ENST00000359429 [[210867288, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210886300]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
ENST00000436630 [[210867307, 210867507], [210874380, 210874460], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210884824]] [[210880698, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
ENST00000408981 [[210867347, 210867507], [210874362, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884509]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884509]]
ENST00000454822 [[210867351, 210867507], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210885950]] [[210880698, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
ENST00000429921 [[210867351, 210867507], [210868161, 210868192], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210886300]] [[210880698, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
ENST00000453724 [[210867357, 210867507], [210868161, 210868192], [210874380, 210874460], [210880696, 210880836], [210880927, 210880981], [210881230, 210881321]] [[210880698, 210880836], [210880927, 210880981], [210881230, 210881321]]
ENST00000540255 [[210867361, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210884392, 210885234]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210884392, 210884515]]
ENST00000438265 [[210867362, 210867507], [210874380, 210874460], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210882513, 210882540]] [[210880698, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210882513, 210882540]]
ENST00000429907 [[210867365, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210882876, 210882945], [210884392, 210884664]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882283], [210882876, 210882942]]
ENST00000441588 [[210867366, 210867507], [210868161, 210868192], [210880696, 210880836], [210881230, 210881365], [210882196, 210882245]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882245]]
ENST00000445268 [[210867366, 210867507], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210882513, 210882611], [210884392, 210884459]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882283], [210882513, 210882611], [210884392, 210884408]]
ENST00000452025 [[210867366, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210882513, 210882611], [210884392, 210884490]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210882513, 210882611], [210884392, 210884408]]
ENST00000438204 [[210867366, 210867507], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884685]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
ENST00000438191 [[210867373, 210867496], [210868161, 210868192], [210874380, 210874460], [210880696, 210880836], [210881230, 210881282]] [[210867385, 210867496], [210868161, 210868192], [210874380, 210874421]]
ENST00000411934 [[210867379, 210867496], [210868161, 210868181], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884685]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
ENST00000435437 [[210867380, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884396, 210884685]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884396, 210884408]]
ENST00000354506 [[210867385, 210867509], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210886267]] [[210867385, 210867509], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
NM_001318930 [[210867288, 210867496], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210886984]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
NM_001278286 [[210867288, 210867496], [210868161, 210868181], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210886984]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
NM_001278288 [[210867288, 210867507], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210886984]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
NM_006916 [[210867288, 210867507], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210886984]] [[210880698, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
NM_001278285 [[210867288, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210884392, 210886984]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210884392, 210884515]]
NM_001318929 [[210867288, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884396, 210886984]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884396, 210884408]]
NM_199229 [[210867288, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210886984]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
NM_001278289 [[210867288, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210882876, 210882945], [210884392, 210886984]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210882876, 210882942]]
NM_001318927 [[210867288, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210882513, 210882611], [210884392, 210886984]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210882513, 210882611], [210884392, 210884408]]
NM_001318928 [[210867288, 210867507], [210874380, 210874460], [210880696, 210880836], [210880927, 210880981], [210881230, 210881260], [210882196, 210882283], [210884392, 210886984]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210880927, 210880981], [210881230, 210881260], [210882196, 210882283], [210884392, 210884515]]
NM_001318926 [[210867288, 210867507], [210874380, 210874460], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210886984]] [[210867385, 210867507], [210874380, 210874460], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
NM_001318931 [[210867288, 210867507], [210868161, 210868192], [210880696, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210886984]] [[210880698, 210880836], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
NM_001278282 [[210867288, 210867507], [210868161, 210868192], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210886984]] [[210880698, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
NM_001278283 [[210867288, 210867507], [210868161, 210868192], [210874380, 210874460], [210880696, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210886984]] [[210880698, 210880836], [210880927, 210880981], [210881230, 210881365], [210882196, 210882283], [210884392, 210884515]]
Promoter
Chrom Start End Description
chr2 210867316 210867339 CAGE_peak_2_at_RPE_5end
chr2 210867341 210867370 CAGE_peak_1_at_RPE_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I210189 210189917 210190026 0.54 [{'connected_gene': 'RPE', 'score': 11.1}, {'connected_gene': 'ENSG00000279317', 'score': 0.37}, {'connected_gene': 'ACADL', 'score': 0.28}]
chr2 GH02I209943 209943401 209943600 0.31 [{'connected_gene': 'RPE', 'score': 0.22}, {'connected_gene': 'GC02M209861', 'score': 0.19}, {'connected_gene': 'UNC80', 'score': 0.09}]
chr2 GH02I209985 209985601 209986400 0.38 [{'connected_gene': 'RPE', 'score': 0.37}, {'connected_gene': 'GC02M209962', 'score': 0.29}, {'connected_gene': 'GC02M209861', 'score': 0.14}, {'connected_gene': 'UNC80', 'score': 0.08}]
chr2 GH02I209938 209938997 209939146 0.2 [{'connected_gene': 'RPE', 'score': 0.21}, {'connected_gene': 'GC02M209861', 'score': 0.2}, {'connected_gene': 'UNC80', 'score': 0.1}]
chr2 GH02I210195 210195201 210195600 0.65 [{'connected_gene': 'RPE', 'score': 15.96}, {'connected_gene': 'KANSL1L', 'score': 11.78}, {'connected_gene': 'ACADL', 'score': 10.75}, {'connected_gene': 'ENSG00000279317', 'score': 0.34}]
chr2 GH02I210001 210001559 210005343 1.98 [{'connected_gene': 'RPE', 'score': 556.15}, {'connected_gene': 'LOC101928020', 'score': 11.43}, {'connected_gene': 'KANSL1L', 'score': 10.41}, {'connected_gene': 'MAP2', 'score': 3.81}, {'connected_gene': 'GC02M209962', 'score': 0.37}]
chr2 GH02I209960 209960052 209961373 0.62 [{'connected_gene': 'ACADL', 'score': 9.86}, {'connected_gene': 'RPE', 'score': 0.26}, {'connected_gene': 'GC02M209861', 'score': 0.17}, {'connected_gene': 'UNC80', 'score': 0.09}]
chr2 GH02I209988 209988201 209988400 0.75 [{'connected_gene': 'ACADL', 'score': 10.46}, {'connected_gene': 'RPE', 'score': 0.39}, {'connected_gene': 'GC02M209962', 'score': 0.29}, {'connected_gene': 'GC02M209861', 'score': 0.13}, {'connected_gene': 'UNC80', 'score': 0.08}]
chr2 GH02I210007 210007930 210008357 0.74 [{'connected_gene': 'KANSL1L', 'score': 14.02}, {'connected_gene': 'RPE', 'score': 0.44}, {'connected_gene': 'GC02M209962', 'score': 0.39}]
chr2 GH02I209933 209933485 209934897 0.51 [{'connected_gene': 'LOC101928020', 'score': 4.48}, {'connected_gene': 'GC02M209861', 'score': 0.21}, {'connected_gene': 'RPE', 'score': 0.2}, {'connected_gene': 'UNC80', 'score': 0.1}]
chr2 GH02I209872 209872757 209872926 0.59 [{'connected_gene': 'GC02M209861', 'score': 550.77}, {'connected_gene': 'UNC80', 'score': 0.15}, {'connected_gene': 'RPE', 'score': 0.13}]

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