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
ENST00000394236 [[93591880, 93593249], [93595809, 93596035], [93598006, 93598158], [93603571, 93603740], [93605179, 93605347], [93611776, 93611966], [93615419, 93615535], [93617291, 93617413], [93619647, 93619773], [93624627, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93692517, 93692910]] [[93593088, 93593249], [93595809, 93596035], [93598006, 93598158], [93603571, 93603740], [93605179, 93605347], [93611776, 93611966], [93615419, 93615535], [93617291, 93617413], [93619647, 93619773], [93624627, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93692517, 93692593]]
ENST00000407433 [[93591952, 93593249], [93595809, 93596035], [93598006, 93598158], [93603571, 93603740], [93605179, 93605347], [93611776, 93611966], [93615419, 93615535], [93617291, 93617413], [93619647, 93619773], [93624627, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93677354, 93677598]] [[93593088, 93593249], [93595809, 93596035], [93598006, 93598158], [93603571, 93603740], [93605179, 93605347], [93611776, 93611966], [93615419, 93615535], [93617291, 93617413], [93619647, 93619773], [93624627, 93624759], [93624864, 93624940]]
ENST00000348974 [[93624631, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93647545, 93647641], [93692517, 93692706]] [[93624631, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93647545, 93647641], [93692517, 93692593]]
ENST00000472684 [[93624667, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93692406, 93692483]] [[93624667, 93624759], [93624864, 93624940]]
ENST00000488658 [[93624883, 93624987], [93629462, 93630001]] None
NM_001314077 [[93591880, 93593249], [93595809, 93596035], [93598006, 93598158], [93603571, 93603740], [93605179, 93605347], [93611776, 93611966], [93615419, 93615535], [93617291, 93617413], [93619647, 93619773], [93624627, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93647545, 93647641], [93692517, 93692925]] [[93593088, 93593249], [93595809, 93596035], [93598006, 93598158], [93603571, 93603740], [93605179, 93605347], [93611776, 93611966], [93615419, 93615535], [93617291, 93617413], [93619647, 93619773], [93624627, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93647545, 93647641], [93692517, 93692593]]
NM_000313 [[93591880, 93593249], [93595809, 93596035], [93598006, 93598158], [93603571, 93603740], [93605179, 93605347], [93611776, 93611966], [93615419, 93615535], [93617291, 93617413], [93619647, 93619773], [93624627, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93692517, 93692934]] [[93593088, 93593249], [93595809, 93596035], [93598006, 93598158], [93603571, 93603740], [93605179, 93605347], [93611776, 93611966], [93615419, 93615535], [93617291, 93617413], [93619647, 93619773], [93624627, 93624759], [93624864, 93624987], [93629462, 93629549], [93643083, 93643108], [93646093, 93646251], [93692517, 93692593]]
Promoter
Chrom Start End Description
chr3 93629893 93629924 CAGE_peak_6_at_PROS1_5end
chr3 93692681 93692762 CAGE_peak_1_at_PROS1_5end
chr3 93692781 93692799 CAGE_peak_2_at_PROS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I093877 93877917 93879056 0.2 [{'connected_gene': 'PROS1', 'score': 7.83}, {'connected_gene': 'PIR37198', 'score': 0.44}, {'connected_gene': 'GC03M093906', 'score': 0.31}, {'connected_gene': 'GC03M093874', 'score': 0.23}]
chr3 GH03I094258 94258607 94260177 0.31 [{'connected_gene': 'PROS1', 'score': 4.95}, {'connected_gene': 'GC03M094207', 'score': 0.44}, {'connected_gene': 'GC03P094109', 'score': 0.11}]
chr3 GH03I093972 93972786 93974816 1.99 [{'connected_gene': 'PROS1', 'score': 558.92}, {'connected_gene': 'ENSG00000201339', 'score': 0.44}]
chr3 GH03I094332 94332174 94334985 0.63 [{'connected_gene': 'STX19', 'score': 8.21}, {'connected_gene': 'PROS1', 'score': 3.77}, {'connected_gene': 'GC03P094366', 'score': 0.29}, {'connected_gene': 'GC03M094207', 'score': 0.2}]
chr3 GH03I093843 93843349 93845018 0.79 [{'connected_gene': 'RNU6-488P', 'score': 550.77}, {'connected_gene': 'STX19', 'score': 11.57}, {'connected_gene': 'PROS1', 'score': 4.16}, {'connected_gene': 'PIR37198', 'score': 0.31}]
chr3 GH03I093969 93969517 93969686 0.49 [{'connected_gene': 'GC03P093968', 'score': 550.77}, {'connected_gene': 'ENSG00000201339', 'score': 550.77}, {'connected_gene': 'PROS1', 'score': 9.57}]