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
ENST00000369208 [[100832890, 100838967], [100841362, 100841765], [100868665, 100868834], [100895143, 100895291], [100896021, 100896128], [100896354, 100896554], [100897238, 100897324], [100897466, 100897575], [100898142, 100898232], [100901637, 100901720], [100911169, 100911811], [100912489, 100912805]] [[100838236, 100838967], [100841362, 100841765], [100868665, 100868834], [100895143, 100895291], [100896021, 100896128], [100896354, 100896554], [100897238, 100897324], [100897466, 100897575], [100898142, 100898232], [100901637, 100901720], [100911169, 100911344]]
ENST00000262901 [[100836747, 100838967], [100841362, 100841765], [100868665, 100868834], [100895143, 100895291], [100896021, 100896128], [100896354, 100896554], [100897238, 100897324], [100897466, 100897575], [100898142, 100898232], [100901637, 100901720], [100911169, 100911553]] [[100838236, 100838967], [100841362, 100841765], [100868665, 100868834], [100895143, 100895291], [100896021, 100896128], [100896354, 100896554], [100897238, 100897324], [100897466, 100897575], [100898142, 100898232], [100901637, 100901720], [100911169, 100911344]]
ENST00000505753 [[100838958, 100838967], [100841362, 100841918]] None
ENST00000511871 [[100910478, 100911811], [100912489, 100912765]] None
NM_005068 [[100836749, 100838967], [100841362, 100841765], [100868665, 100868834], [100895143, 100895291], [100896021, 100896128], [100896354, 100896554], [100897238, 100897324], [100897466, 100897575], [100898142, 100898232], [100901637, 100901720], [100911169, 100911551]] [[100838236, 100838967], [100841362, 100841765], [100868665, 100868834], [100895143, 100895291], [100896021, 100896128], [100896354, 100896554], [100897238, 100897324], [100897466, 100897575], [100898142, 100898232], [100901637, 100901720], [100911169, 100911344]]
Promoter
Chrom Start End Description
chr6 100912752 100912778 CAGE_peak_2_at_SIM1_5end
chr6 100912785 100912822 CAGE_peak_1_at_SIM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I100460 100460748 100466158 1.09 [{'connected_gene': 'SIM1', 'score': 550.77}, {'connected_gene': 'ASCC3', 'score': 11.37}, {'connected_gene': 'LOC102724406', 'score': 11.18}, {'connected_gene': 'RPS3P5', 'score': 4.63}, {'connected_gene': 'GC06P100411', 'score': 0.23}]
chr6 GH06I100493 100493365 100493514 0.59 [{'connected_gene': 'SIM1', 'score': 11.27}, {'connected_gene': 'LOC102724406', 'score': 10.77}, {'connected_gene': 'RPS3P5', 'score': 4.63}, {'connected_gene': 'GC06P100503', 'score': 0.39}]
chr6 GH06I100479 100479605 100479714 0.67 [{'connected_gene': 'SIM1', 'score': 0.39}, {'connected_gene': 'GC06P100503', 'score': 0.34}]
chr6 GH06I100466 100466742 100468110 0.46 [{'connected_gene': 'ASCC3', 'score': 16.36}, {'connected_gene': 'LOC102724406', 'score': 10.52}, {'connected_gene': 'RPS3P5', 'score': 4.63}, {'connected_gene': 'SIM1', 'score': 0.77}, {'connected_gene': 'GC06P100503', 'score': 0.28}, {'connected_gene': 'GC06P100411', 'score': 0.22}]
chr6 GH06I100453 100453333 100459683 1.45 [{'connected_gene': 'ASCC3', 'score': 18.84}, {'connected_gene': 'LOC102724406', 'score': 11.49}, {'connected_gene': 'RPS3P5', 'score': 4.63}, {'connected_gene': 'SIM1', 'score': 2.25}, {'connected_gene': 'GC06P100411', 'score': 0.26}]
chr6 GH06I100446 100446358 100449013 0.54 [{'connected_gene': 'LOC102724406', 'score': 11.85}, {'connected_gene': 'ASCC3', 'score': 3.99}, {'connected_gene': 'SIM1', 'score': 0.37}, {'connected_gene': 'GC06P100411', 'score': 0.28}]
chr6 GH06I100420 100420825 100420994 0.2 [{'connected_gene': 'GC06P100411', 'score': 0.44}, {'connected_gene': 'LOC102724406', 'score': 0.31}, {'connected_gene': 'SIM1', 'score': 0.26}]
chr6 GH06I100416 100416747 100417847 0.31 [{'connected_gene': 'GC06P100411', 'score': 0.44}, {'connected_gene': 'LOC102724406', 'score': 0.34}, {'connected_gene': 'SIM1', 'score': 0.25}]